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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut DNAJC13 23317 broad.mit.edu 37 3 132222072 132222072 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:132222072C>T uc003eor.3 + 40 4796 c.4731C>T c.(4729-4731)agC>agT p.S1577S NM_015268 NP_056083 O75165 DJC13_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA. 1577 heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TAGCAAACAGCCTTGCCAAAC 0.373000 27 8 0 0 0.004482 0 0 ACE 1636 broad.mit.edu 37 17 61571793 61571793 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:61571793G>A uc002jau.2 + 21 3376 c.3342G>A c.(3340-3342)ggG>ggA p.G1114G ACE_uc010wpj.2_Silent_p.G540G|ACE_uc010ddv.2_Silent_p.G341G|ACE_uc002jav.2_Silent_p.G540G|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Silent_p.G360G NM_000789 NP_000780 P12821 ACE_HUMAN Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA. 1114 Peptidase M2 2. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) TTGACCCAGGGGCCAAGTTCC 0.542000 48 11 0 0 0.001368 0 0 HDAC5 10014 broad.mit.edu 37 17 42170121 42170121 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:42170121G>A uc002iff.1 - 6 1030 c.698C>T c.(697-699)cCt>cTt p.P233L HDAC5_uc002ifd.1_Missense_Mutation_p.P232L|HDAC5_uc002ife.1_Missense_Mutation_p.P232L|HDAC5_uc010czp.1_Missense_Mutation_p.P232L|HDAC5_uc002ifh.2_Missense_Mutation_p.P232L NM_001015053 NP_001015053 Q9UQL6 HDAC5_HUMAN Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA. 232 B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent cytoplasm|histone deacetylase complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 21 Breast(137;0.00637)|Prostate(33;0.0313) BRCA - Breast invasive adenocarcinoma(366;0.118) AGGCGTCCCAGGGGGGCCGCT 0.647000 26 12 0 0 0.000978 0 0 abParts 0 broad.mit.edu 37 2 89161525 89161525 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:89161525C>T uc021vkt.1 - 256 c.9771_splice c.e256-1 abParts_uc002sti.1_5'Flank|abParts_uc002stj.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. AAGCTCAACTCCCTTTTCGAG 0.463000 6 5 0 0 0.000602 0 0 ZNF429 353088 broad.mit.edu 37 19 21720869 21720869 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:21720869C>T uc002nqd.1 + 3 2151 c.2014C>T c.(2014-2016)Cgt>Tgt p.R672C ZNF429_uc010ecu.2_Intron NM_001001415 NP_001001415 Q86V71 ZN429_HUMAN Homo sapiens zinc finger protein 429 (ZNF429), mRNA. 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 agatcgagaccgtcctggcta 0.478000 2 3 0 0 0.004672 0 0 GIPC1 10755 broad.mit.edu 37 19 14591154 14591154 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:14591154G>A uc002myt.3 - 5 888 c.618C>T c.(616-618)acC>acT p.T206T GIPC1_uc002myv.3_Silent_p.T109T|GIPC1_uc002myu.3_Silent_p.T206T|GIPC1_uc002myw.3_Silent_p.T109T|GIPC1_uc002myx.3_Silent_p.T206T|GIPC1_uc002myy.3_Silent_p.T109T NM_005716 NP_974223 O14908 GIPC1_HUMAN Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA. 206 PDZ. G-protein coupled receptor protein signaling pathway|endothelial cell migration|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane actin binding|myosin binding|protein homodimerization activity|receptor binding endometrium(1)|lung(4)|upper_aerodigestive_tract(1) 6 TCAGCGTGAAGGTACGGCCTC 0.701000 OREG0025316 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 12 0 0 0.002450 0 0 WDR90 197335 broad.mit.edu 37 16 708548 708548 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:708548C>T uc002cii.1 + 22 2844 c.2790C>T c.(2788-2790)ccC>ccT p.P930P WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Silent_p.P457P|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Silent_p.P104P|WDR90_uc002cin.1_5'Flank NM_145294 NP_660337 Q96KV7 WDR90_HUMAN Homo sapiens WD repeat domain 90 (WDR90), mRNA. 930 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) ACCCTGAGCCCTGCCCCTCCT 0.662000 29 14 0 0 0.001216 0 0 CECR1 51816 broad.mit.edu 37 22 17684453 17684453 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:17684453C>T uc002zmk.1 - 3 965 c.753_splice c.e3+1 p.P251_splice CECR1_uc010gqu.1_Splice_Site_p.P251_splice|CECR1_uc011agi.1_Splice_Site_p.P209_splice|CECR1_uc011agj.1_Splice_Site_p.P209_splice NM_017424 NP_059120 Q9NZK5 CECR1_HUMAN Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA. 251 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process Golgi apparatus|extracellular space adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) CTGGGCTCACCGGCAGCAGCC 0.532000 20 5 0 0 0.001168 0 0 SAMD9 54809 broad.mit.edu 37 7 92730882 92730882 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:92730882G>A uc003umf.3 - 2 4799 c.4529C>T c.(4528-4530)tCc>tTc p.S1510F SAMD9_uc003umg.3_Missense_Mutation_p.S1510F|SAMD9_uc022ahg.1_Missense_Mutation_p.S1510F NM_017654 NP_060124 Q5K651 SAMD9_HUMAN Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA. 1510 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGCCACAAGGAATTAATATC 0.358000 25 5 0 0 0.000602 0 0 TRAK1 22906 broad.mit.edu 37 3 42265111 42265111 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:42265111G>A uc003cky.3 + 15 2960 c.2744G>A c.(2743-2745)cGg>cAg p.R915Q TRAK1_uc011azi.2_Missense_Mutation_p.R894Q NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 915 endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 AGTGGCATCCGGCGGAATCGC 0.597000 21 21 0 0 0.001216 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786753 19786753 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:19786753G>A uc003zoa.2 - 0 265 c.112C>T c.(112-114)Cga>Tga p.R38* SLC24A2_uc003zob.2_Nonsense_Mutation_p.R38* NM_020344 NP_065077 Q9UI40 NCKX2_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA. 38 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) CCTAAGACTCGAATTAACTTC 0.443000 35 33 0 0 0.002445 0 0 CCDC117 150275 broad.mit.edu 37 22 29182126 29182126 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:29182126C>T uc003aeb.3 + 4 828 c.652C>T c.(652-654)Ctt>Ttt p.L218F CCDC117_uc011aki.2_Missense_Mutation_p.L200F|CCDC117_uc011akj.2_Missense_Mutation_p.L143F|CCDC117_uc011akk.2_Missense_Mutation_p.L86F NM_173510 NP_775781 Q8IWD4 CC117_HUMAN Homo sapiens coiled-coil domain containing 117 (CCDC117), mRNA. 218 breast(1)|kidney(1)|large_intestine(4)|upper_aerodigestive_tract(1) 7 CCCTGAACTCCTTTCTGATAA 0.433000 40 24 0 0 0.004656 0 0 WIZ 58525 broad.mit.edu 37 19 15558987 15558987 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15558987G>A uc002nbb.4 - 1 346 c.132C>T c.(130-132)ttC>ttT p.F44F MIR1470_uc021upx.1_5'Flank NM_021241 NP_067064 O95785 WIZ_HUMAN Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA. 1117 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 GGGTGGACCGGAAGATGCCAC 0.647000 41 46 0 0 0.003610 0 0 SLC9A2 6549 broad.mit.edu 37 2 103300793 103300793 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:103300793C>T uc002tca.3 + 4 1565 c.1423C>T c.(1423-1425)Ctg>Ttg p.L475L NM_003048 NP_003039 Q9UBY0 SL9A2_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA. 475 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TGTCTTCATTCTGGTAAGTAG 0.388000 51 18 0 0 0.007413 0 0 TBC1D2B 23102 broad.mit.edu 37 15 78316504 78316504 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:78316504C>T uc002bcy.4 - 5 1464 c.1464G>A c.(1462-1464)agG>agA p.R488R TBC1D2B_uc010bla.3_Silent_p.R488R NM_144572 NP_653173 Q9UPU7 TBD2B_HUMAN Homo sapiens TBC1 domain family, member 2B (TBC1D2B), transcript variant 1, mRNA. 488 intracellular Rab GTPase activator activity|protein binding breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 TTACTTTCAGCCTGTCCAGTT 0.642000 17 9 0 0 0.006214 0 0 ARID5B 84159 broad.mit.edu 37 10 63852268 63852268 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:63852268C>T uc001jlt.2 + 9 3502 c.3046C>T c.(3046-3048)Ctg>Ttg p.L1016L ARID5B_uc001jlu.2_Silent_p.L773L NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 1016 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) CAAGCGCAGCCTGGAGGATTT 0.577000 64 15 0 0 0.004007 0 0 TCTE1 202500 broad.mit.edu 37 6 44255329 44255329 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:44255329G>A uc003oxi.2 - 1 390 c.234C>T c.(232-234)ctC>ctT p.L78L TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron NM_182539 NP_872345 Q5JU00 TCTE1_HUMAN Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA. 78 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCTCTGTGAGGAGGGGCACGA 0.582000 12 6 0 0 0.001168 0 0 TPO 7173 broad.mit.edu 37 2 1418267 1418268 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:1418267_1418268CC>TT uc002qwr.3 + 1 173_174 c.87_88CC>TT c.(85-90)ctcctt>ctTTtt p.L30F TPO_uc010ewj.3_Intron|TPO_uc010yin.1_Missense_Mutation_p.L30F|TPO_uc002qww.3_Missense_Mutation_p.L30F|TPO_uc002qwx.3_Missense_Mutation_p.L30F|TPO_uc002qwu.3_Missense_Mutation_p.L30F|TPO_uc010yio.2_Missense_Mutation_p.L30F|TPO_uc010yip.2_Missense_Mutation_p.L30F NM_001206744 NP_001193673 P07202 PERT_HUMAN Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA. 30 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) GGAAAGAACTCCTTTGGGGTAA 0.460000 13 10 0 0 0.004672 0 0 DBX2 440097 broad.mit.edu 37 12 45410375 45410375 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:45410375C>T uc001rok.1 - 3 886 c.714G>A c.(712-714)agG>agA p.R238R NM_001004329 NP_001004329 Q6ZNG2 DBX2_HUMAN Homo sapiens developing brain homeobox 2 (DBX2), mRNA. 238 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 22 Lung SC(27;0.192) Lung NSC(34;0.142) GBM - Glioblastoma multiforme(48;0.0515) GCCATTTCATCCTCCTGTTCT 0.388000 54 17 0 0 0.007413 0 0 DDX50 79009 broad.mit.edu 37 10 70670979 70670979 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70670979A>G uc001jou.3 + 3 723 c.616A>G c.(616-618)Att>Gtt p.I206V DDX50_uc001jot.3_Missense_Mutation_p.I206V NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA. 206 Helicase ATP-binding. nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 TCAAGAAACAATTAAAAAAAG 0.373000 56 27 0 0 0.001512 0 0 C1orf150 148823 broad.mit.edu 37 1 247737453 247737453 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:247737453G>A uc001idf.3 + 4 324 c.177G>A c.(175-177)gaG>gaA p.E59E C1orf150_uc009xgw.3_Non-coding_Transcript|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Non-coding_Transcript NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 59 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 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;0.0241) AGGAAAACGAGAATGGCAGTG 0.433000 58 38 0 0 0.003214 0 0 OR4D6 219983 broad.mit.edu 37 11 59224926 59224926 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59224926C>T uc010rku.2 + 0 493 c.493C>T c.(493-495)Cca>Tca p.P165S NM_001004708 NP_001004708 Q8NGJ1 OR4D6_HUMAN Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA. 165 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 34 TCTGATGCTTCCATTCCCCTT 0.502000 64 33 0 0 0.002836 0 0 ZBTB26 57684 broad.mit.edu 37 9 125681566 125681566 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:125681566G>A uc004bnk.3 - 1 722 c.648C>T c.(646-648)ccC>ccT p.P216P ZBTB26_uc004bnj.3_Silent_p.P216P|ZBTB26_uc022bnc.1_Silent_p.P216P NM_020924 NP_065975 Q9HCK0 ZBT26_HUMAN Homo sapiens zinc finger and BTB domain containing 26 (ZBTB26), mRNA. 216 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1) 11 GGGAGTGCTGGGGCTCTGATG 0.378000 33 11 0 0 0.000673 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921316 12921316 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:12921316C>T uc001aum.1 + 3 1194 c.1107C>T c.(1105-1107)atC>atT p.I369I NM_023014 NP_075390 O60811 PRAM2_HUMAN Homo sapiens PRAME family member 2 (PRAMEF2), mRNA. 369 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TCAGTGCCATCCTGCCTGGCC 0.562000 64 38 0 0 0.003755 0 0 C10orf137 26098 broad.mit.edu 37 10 127431743 127431743 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:127431743C>T uc001liq.1 + 17 2781 c.2488C>T c.(2488-2490)Cca>Tca p.P830S C10orf137_uc001lin.3_Missense_Mutation_p.P796S|C10orf137_uc001lip.1_Missense_Mutation_p.P534S|C10orf137_uc001lio.1_Missense_Mutation_p.P796S|C10orf137_uc001lis.1_Missense_Mutation_p.P156S NM_001202438 NP_001189367 Q3B7T1 EDRF1_HUMAN Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA. 830 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) AAGCCAAAATCCAGAACACTA 0.353000 21 15 0 0 0.002450 0 0 SLITRK1 114798 broad.mit.edu 37 13 84453655 84453655 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:84453655G>A uc001vlk.3 - 0 2874 c.1988C>T c.(1987-1989)tCc>tTc p.S663F NM_052910 NP_443142 Q96PX8 SLIK1_HUMAN Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA. 663 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) TGTCTGTAGGGAATTAATCTC 0.557000 18 13 0 0 0.001855 0 0 PLCL1 5334 broad.mit.edu 37 2 198948626 198948626 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:198948626C>T uc010fsp.3 + 1 783 c.385C>T c.(385-387)Cgc>Tgc p.R129C PLCL1_uc002uuv.4_Missense_Mutation_p.R50C NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 129 Interaction with PPP1C.|PH. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) GCCAAATTCTCGCATTTACAA 0.453000 21 8 0 0 0.004482 0 0 COL11A1 1301 broad.mit.edu 37 1 103412448 103412449 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:103412448_103412449CC>TT uc001dum.3 - 41 3586_3587 c.3268_3269GG>AA c.(3268-3270)gga>AAa p.G1090K COL11A1_uc001duk.3_Missense_Mutation_p.G274K|COL11A1_uc001dul.3_Missense_Mutation_p.G1078K|COL11A1_uc001dun.3_Missense_Mutation_p.G1039K|COL11A1_uc009weh.3_Missense_Mutation_p.G962K NM_080629 NP_542196 P12107 COBA1_HUMAN Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA. 1078 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging p.P1089L(1) NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACCCTGAGGTCCCGGGCGCCCT 0.475000 22 6 0 0 0.004672 0 0 LARP4B 23185 broad.mit.edu 37 10 888923 888923 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:888923G>A uc001ifs.1 - 5 636 c.595C>T c.(595-597)Cac>Tac p.H199Y NM_015155 NP_055970 Q92615 LAR4B_HUMAN Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA. 199 HTH La-type RNA-binding. RNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TTCTTGATGTGGTCGAGGTTA 0.388000 22 10 0 0 0.006214 0 0 ATP2A2 488 broad.mit.edu 37 12 110719652 110719652 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:110719652G>A uc001tqk.4 + 0 621 c.58G>A c.(58-60)Gag>Aag p.E20K ATP2A2_uc001tql.4_Missense_Mutation_p.E20K|JA611269_uc021rds.1_5'Flank NM_170665 NP_733765 P16615 AT2A2_HUMAN Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA. 20 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CGGCGTCAACGAGAGTACGGG 0.706000 6 4 0 0 0.000248 0 0 SLX4 84464 broad.mit.edu 37 16 3641088 3641088 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:3641088T>C uc002cvp.2 - 11 3178 c.2551A>G c.(2551-2553)Atg>Gtg p.M851V NM_032444 NP_115820 Q8IY92 SLX4_HUMAN Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA. 851 Glu-rich.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 ATTTCTTCCATTTCTGCTTCA 0.502000 Direct reversal of damage 51 30 0 0 0.006320 0 0 NLRP4 147945 broad.mit.edu 37 19 56369793 56369793 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56369793G>A uc002qmd.4 + 2 1456 c.1034G>A c.(1033-1035)tGg>tAg p.W345* NLRP4_uc002qmf.3_Nonsense_Mutation_p.W270*|NLRP4_uc010etf.3_Nonsense_Mutation_p.W176* NM_134444 NP_604393 Q96MN2 NALP4_HUMAN Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA. 345 NACHT. ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CTCCTCTGCTGGATCCTGTGT 0.478000 28 19 0 0 0.001216 0 0 FAM83G 644815 broad.mit.edu 37 17 18907103 18907103 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:18907103C>T uc002guw.3 - 1 419 c.252G>A c.(250-252)acG>acA p.T84T SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA. 84 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 GAGAGGGGCCCGTGCCCCGAG 0.701000 4 6 0 0 0.001168 0 0 FLG 2312 broad.mit.edu 37 1 152284875 152284875 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:152284875G>A uc001ezu.1 - 2 2523 c.2487C>T c.(2485-2487)tcC>tcT p.S829S AK056431_uc001ezv.3_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 829 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTGAGTGCCTGGAGTTGTCTC 0.567000 Ichthyosis 135 63 0 0 0.003610 0 0 S1PR3 1903 broad.mit.edu 37 9 91616748 91616748 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:91616748C>T uc022bjm.1 + 0 633 c.633C>T c.(631-633)atC>atT p.I211I S1PR3_uc004aqe.3_Silent_p.I211I NM_005226 NP_005217 Q99500 S1PR3_HUMAN Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA. 211 anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation integral to plasma membrane lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1) 34 TGGTGACCATCGTGATCCTCT 0.572000 OREG0019291 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 34 0 0 0.007835 0 0 SLC8A2 6543 broad.mit.edu 37 19 47969428 47969428 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47969428G>A uc010ele.3 - 0 249 c.233C>T c.(232-234)gCc>gTc p.A78V SLC8A2_uc002pgx.3_Missense_Mutation_p.A78V|SLC8A2_uc010xyq.2_Intron|SLC8A2_uc010xyr.2_Intron Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 78 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) GTAGACCATGGCCACAAAGTA 0.617000 17 9 0 0 0.004482 0 0 ADD2 119 broad.mit.edu 37 2 70890603 70890603 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:70890603G>A uc021vjc.1 - 15 2400 c.2135C>T c.(2134-2136)cCc>cTc p.P712L ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.P712L NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 712 Interaction with calmodulin (Potential). actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CAGGAAGGAGGGGGTTCGGAA 0.537000 89 39 0 0 0.003610 0 0 OR10G7 390265 broad.mit.edu 37 11 123909529 123909529 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:123909529G>A uc001pzq.1 - 0 180 c.180C>T c.(178-180)ttC>ttT p.F60F NM_001004463 NP_001004463 Q8NGN6 O10G7_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA. 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1) 47 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GGTTGGTGAGGAAGTAGTACA 0.542000 33 9 0 0 0.001855 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140207808 140207808 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140207808C>T uc003lho.2 + 0 159 c.132C>T c.(130-132)ttC>ttT p.F44F PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Silent_p.F44F|PCDHAC2_uc011dab.2_Silent_p.F44F NM_018909 NP_061732 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA. 57 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.L44Q(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCACCTTCGTGGGCCGGA 0.662000 26 26 0 0 0.004656 0 0 OSCP1 127700 broad.mit.edu 37 1 36884634 36884634 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:36884634T>C uc001caq.3 - 8 1097 c.981A>G c.(979-981)ccA>ccG p.P327P NM_145047 NP_659484 Q8WVF1 OSCP1_HUMAN Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA. 337 transport basal plasma membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 22 ATAACTCTTCTGGCCTGGTTA 0.453000 116 62 0 0 0.003610 0 0 CHRD 8646 broad.mit.edu 37 3 184106458 184106458 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:184106458C>T uc003fov.3 + 20 2884 c.2638C>T c.(2638-2640)Cca>Tca p.P880S CHRD_uc003fow.3_Missense_Mutation_p.P510S|CHRD_uc003fox.3_Missense_Mutation_p.P880S|CHRD_uc003foy.3_Missense_Mutation_p.P510S|CHRD_uc010hyc.3_Missense_Mutation_p.P470S|CHRD_uc011brr.2_Missense_Mutation_p.P422S NM_003741 NP_003732 Q9H2X0 CHRD_HUMAN Homo sapiens chordin (CHRD), mRNA. 880 VWFC 4. BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development extracellular space cytokine binding NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 all_cancers(143;6.33e-11)|Ovarian(172;0.0339) Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GCAGTGGTTCCCAGAGAGTCA 0.637000 54 20 0 0 0.002299 0 0 SELO 83642 broad.mit.edu 37 22 50644880 50644880 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50644880T>C uc021wry.1 + 1 747 c.689T>C c.(688-690)gTg>gCg p.V230A SELO_uc010hap.3_Missense_Mutation_p.V25A|SELO_uc003bjy.3_5'Flank NM_031454 Q9BVL4 SELO_HUMAN Homo sapiens selenoprotein O (SELO), mRNA. 230 all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.105) GTGCGCGACGTGTTCTATGAT 0.567000 OREG0026675 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 7 0 0 0.003080 0 0 OR4K5 79317 broad.mit.edu 37 14 20388826 20388826 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20388826C>T uc010tkw.2 + 0 61 c.61C>T c.(61-63)Caa>Taa p.Q21* NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CTGTAGTTCTCAAAAACTCCA 0.393000 26 17 0 0 0.006122 0 0 PROX1 5629 broad.mit.edu 37 1 214170566 214170566 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:214170566G>A uc001hkh.3 + 1 960 c.688G>A c.(688-690)Gaa>Aaa p.E230K PROX1_uc001hkg.1_Missense_Mutation_p.E230K NM_002763 NP_002754 Q92786 PROX1_HUMAN Homo sapiens prospero homeobox 1 (PROX1), mRNA. 230 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) AGCCCGAAAAGAACAGAAGCG 0.517000 21 11 0 0 0.001368 0 0 MPDZ 8777 broad.mit.edu 37 9 13119590 13119590 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:13119590C>T uc010mia.1 - 37 5347 c.5290G>A c.(5290-5292)Gga>Aga p.G1764R MPDZ_uc003zkx.4_Missense_Mutation_p.G29R|MPDZ_uc003zky.4_Missense_Mutation_p.G298R|MPDZ_uc010mib.3_Missense_Mutation_p.G469R|MPDZ_uc010mhx.3_Missense_Mutation_p.G586R|MPDZ_uc011lmm.2_Missense_Mutation_p.G623R|MPDZ_uc003zkz.4_Missense_Mutation_p.G457R|MPDZ_uc010mhz.3_Missense_Mutation_p.G1731R|MPDZ_uc011lmn.2_Missense_Mutation_p.G1731R|MPDZ_uc010mhy.3_Missense_Mutation_p.G1764R|MPDZ_uc003zlb.4_Missense_Mutation_p.G1764R NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1764 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) ATCAGTCTTCCATCGGCATCT 0.418000 26 31 0 0 0.002445 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140255750 140255750 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140255750C>T uc003lic.2 + 0 820 c.693C>T c.(691-693)acC>acT p.T231T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.T231T NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 246 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAAATAACCGTCCTGGATG 0.423000 15 19 0 0 0.001216 0 0 FCF1 51077 broad.mit.edu 37 14 75201622 75201622 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:75201622C>T uc001xqh.3 + 7 637 c.586C>T c.(586-588)Cct>Tct p.P196S FCF1_uc001xqf.1_Missense_Mutation_p.P181S|FCF1_uc001xqi.3_Non-coding_Transcript NM_015962 NP_057046 Q9Y324 FCF1_HUMAN Homo sapiens FCF1 small subunit (SSU) processome component homolog (S. cerevisiae) (FCF1), mRNA. 196 rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) TTATGGAGCCCCTCGATTCTA 0.413000 28 38 0 0 0.007835 0 0 GLYATL2 219970 broad.mit.edu 37 11 58605776 58605776 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:58605776G>A uc001nnd.4 - 2 275 c.144C>T c.(142-144)gcC>gcT p.A48A GLYATL2_uc009ymq.3_Silent_p.A48A NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 48 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) AATCTGGCCAGGCATCTACCA 0.458000 35 14 0 0 0.002450 0 0 DDX50 79009 broad.mit.edu 37 10 70670845 70670845 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70670845T>A uc001jou.3 + 3 589 c.482T>A c.(481-483)tTt>tAt p.F161Y DDX50_uc001jot.3_Missense_Mutation_p.F161Y NM_024045 NP_076950 Q9BQ39 DDX50_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 50 (DDX50), mRNA. 161 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 29 ACATATCTCTTTCCTATTCAA 0.343000 57 48 0 0 0.003610 0 0 RP1L1 94137 broad.mit.edu 37 8 10465899 10465899 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:10465899T>C uc003wtc.3 - 3 5938 c.5709A>G c.(5707-5709)tcA>tcG p.S1903S NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1903 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CTGCACCTTCTGACTCTGGCT 0.587000 36 48 0 0 0.003610 0 0 SHROOM3 57619 broad.mit.edu 37 4 77675821 77675821 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:77675821C>T uc011cbx.2 + 6 5138 c.4185C>T c.(4183-4185)acC>acT p.T1395T SHROOM3_uc003hkg.3_Silent_p.T1173T NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 1395 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) ACACCCTGACCCAGCCTCCCG 0.627000 12 4 0 0 0.000248 0 0 PTCHD1 139411 broad.mit.edu 37 X 23398131 23398131 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:23398131G>A uc004dal.4 + 1 783 c.775G>A c.(775-777)Gaa>Aaa p.E259K PTCHD1_uc010nfu.2_Missense_Mutation_p.E259K NM_173495 NP_775766 Q96NR3 PTHD1_HUMAN Homo sapiens patched domain containing 1 (PTCHD1), mRNA. 259 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 CTCACTGAGGGAAGATTTCCA 0.517000 9 40 0 0 0.006230 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917245 48917245 + Missense_Mutation SNP C T T rs142981915 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48917245C>T uc002isv.4 + 1 1290 c.596C>T c.(595-597)tCc>tTc p.S199F WFIKKN2_uc010dbu.3_Missense_Mutation_p.S106F NM_175575 NP_783165 Q8TEU8 WFKN2_HUMAN Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA. 199 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) ACCACAGCCTCCCCAGAGACC 0.617000 15 16 0 0 0.006122 0 0 MYO5B 4645 broad.mit.edu 37 18 47527636 47527636 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:47527636G>A uc002leb.2 - 4 889 c.601C>T c.(601-603)Ccc>Tcc p.P201S MYO5B_uc021ukb.1_Missense_Mutation_p.P200S NM_001080467 NP_001073936 Q9ULV0 MYO5B_HUMAN Homo sapiens myosin VB (MYO5B), mRNA. 201 Myosin head-like. protein transport myosin complex ATP binding|actin 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) TCCATGATGGGACTGGATGCC 0.592000 24 17 0 0 0.004990 0 0 CD22 933 broad.mit.edu 37 19 35829139 35829139 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:35829139C>T uc010edt.3 + 5 1138 c.1054C>T c.(1054-1056)Ctt>Ttt p.L352F CD22_uc010edu.3_Intron|CD22_uc010edv.3_Missense_Mutation_p.L352F|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.L180F|CD22_uc010edx.3_Non-coding_Transcript NM_001771 NP_001762 P20273 CD22_HUMAN Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA. 352 Ig-like C2-type 3. cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) AGTCGAGTTTCTTTGCATGTC 0.537000 30 21 0 0 0.003954 0 0 TDRD6 221400 broad.mit.edu 37 6 46660898 46660898 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:46660898C>T uc003oyj.3 + 0 5287 c.5033C>T c.(5032-5034)cCt>cTt p.P1678L TDRD6_uc010jze.3_Missense_Mutation_p.P1678L NM_001010870 NP_001010870 O60522 TDRD6_HUMAN Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA. 1678 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGTGATATCCCTTTAGCAATT 0.303000 9 11 0 0 0.001368 0 0 NLRP13 126204 broad.mit.edu 37 19 56423937 56423937 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56423937C>T uc010ygg.2 - 4 1271 c.1246G>A c.(1246-1248)Gaa>Aaa p.E416K NM_176810 NP_789780 Q86W25 NAL13_HUMAN Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA. 416 NACHT. ATP binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AAGAGAGTTTCGTTTTTTCTT 0.463000 30 18 0 0 0.007413 0 0 ZNF99 7652 broad.mit.edu 37 19 22941130 22941130 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:22941130A>T uc021urt.1 - 3 1736 c.1581T>A c.(1579-1581)caT>caA p.H527Q NM_001080409 NP_001073878 Homo sapiens zinc finger protein 99 (ZNF99), mRNA. p.H436Q(1) 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) GAATTATCTTATGTTTTCTAA 0.333000 7 7 0 0 0.006214 0 0 PMFBP1 83449 broad.mit.edu 37 16 72174409 72174409 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:72174409C>T uc002fcc.4 - 5 881 c.709G>A c.(709-711)Gag>Aag p.E237K PMFBP1_uc002fcd.3_Missense_Mutation_p.E237K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.E92K NM_031293 NP_112583 Q8TBY8 PMFBP_HUMAN Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA. 237 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) TTCTGAGTCTCCTGATGCTCT 0.428000 133 50 0 0 0.003610 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85450714 85450714 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:85450714T>G uc001tac.3 + 7 2254 c.2143T>G c.(2143-2145)Tgc>Ggc p.C715G LRRIQ1_uc021rbo.1_Missense_Mutation_p.C593G|LRRIQ1_uc001taa.1_Missense_Mutation_p.C690G NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 715 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TTCAGAAAAATGCCATGAAAA 0.383000 152 72 0 0 0.003610 0 0 GALNT13 114805 broad.mit.edu 37 2 155158006 155158006 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:155158006C>T uc002tyt.4 + 6 1164 c.1060C>T c.(1060-1062)Cct>Tct p.P354S GALNT13_uc002tyr.4_Missense_Mutation_p.P354S|GALNT13_uc010foc.1_Missense_Mutation_p.P173S|GALNT13_uc010fod.3_Missense_Mutation_p.P107S NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA. 354 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 ATACACTTTTCCTGGTGGCAC 0.438000 88 51 0 0 0.003610 0 0 FN1 2335 broad.mit.edu 37 2 216283967 216283967 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:216283967G>A uc002vfa.3 - 11 2083 c.1817C>T c.(1816-1818)cCa>cTa p.P606L FN1_uc002vfc.3_Missense_Mutation_p.P606L|FN1_uc002vfe.3_Missense_Mutation_p.P606L|FN1_uc002vff.3_Missense_Mutation_p.P606L|FN1_uc002vfg.3_Missense_Mutation_p.P606L|FN1_uc002vfh.3_Missense_Mutation_p.P606L|FN1_uc002vfi.3_Missense_Mutation_p.P606L|FN1_uc002vfj.3_Missense_Mutation_p.P606L|FN1_uc002vfb.3_Missense_Mutation_p.P606L|FN1_uc002vfl.3_Missense_Mutation_p.P606L NM_212482 NP_997647 P02751 FINC_HUMAN Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA. 606 Collagen-binding. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTACTTACTTGGATAGGTCTG 0.473000 24 13 0 0 0.003163 0 0 USP54 159195 broad.mit.edu 37 10 75258871 75258871 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75258871C>T uc001juo.3 - 21 4588 c.4571G>A c.(4570-4572)gGa>gAa p.G1524E USP54_uc010qkk.2_Missense_Mutation_p.G659E|USP54_uc001juk.3_Missense_Mutation_p.G612E|USP54_uc001jul.3_Missense_Mutation_p.G565E|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript NM_152586 NP_689799 Q70EL1 UBP54_HUMAN Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA. 1524 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) CAAAGTCCTTCCTGTGTACTT 0.527000 112 57 0 0 0.003610 0 0 SCN9A 6335 broad.mit.edu 37 2 167060887 167060887 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:167060887G>A uc010fpl.3 - 24 4794 c.4453C>T c.(4453-4455)Cca>Tca p.P1485S BC051759_uc002udp.3_Intron NM_002977 NP_002968 Q15858 SCN9A_HUMAN Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA. 1496 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) CGAGGAATTGGCTTTTGTGGC 0.313000 25 23 0 0 0.003330 0 0 FRY 10129 broad.mit.edu 37 13 32841345 32841345 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:32841345C>T uc001utx.3 + 54 8481 c.7985C>T c.(7984-7986)tCg>tTg p.S2662L FRY_uc010tdw.2_Non-coding_Transcript|FRY_uc001utz.3_Missense_Mutation_p.S187L|FRY_uc010tdx.2_Missense_Mutation_p.S32L NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 2662 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CCCCCTCCCTCGCCCTTCTTC 0.537000 58 33 0 0 0.003271 0 0 PPP1R10 5514 broad.mit.edu 37 6 30572209 30572209 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:30572209C>T uc003nqn.1 - 12 1734 c.1182G>A c.(1180-1182)agG>agA p.R394R PPP1R10_uc010jsc.1_Silent_p.R48R NM_002714 NP_002705 Q96QC0 PP1RA_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA. 394 Essential for PPP1CA inhibition (By similarity).|Necessary for interaction with PPP1CA (By similarity).|Necessary for interaction with PPP1CC. protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TTTTCCTCTTCCTGCCTTTCC 0.483000 22 56 0 0 0.003610 0 0 CLN6 54982 broad.mit.edu 37 15 68504096 68504096 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:68504096G>A uc010ujz.2 - 3 737 c.499C>T c.(499-501)Cac>Tac p.H167Y CLN6_uc002arf.3_Missense_Mutation_p.H135Y|CLN6_uc010ujy.2_Intron NM_017882 NP_060352 Q9NWW5 CLN6_HUMAN Homo sapiens ceroid-lipofuscinosis, neuronal 6, late infantile, variant (CLN6), mRNA. 135 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 AGCAGGCGGTGGTTGACAGAG 0.607000 61 30 0 0 0.002096 0 0 CDH16 1014 broad.mit.edu 37 16 66945820 66945820 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:66945820G>A uc002eql.3 - 12 1966 c.1772C>T c.(1771-1773)cCc>cTc p.P591L CDH16_uc010cdy.3_Missense_Mutation_p.P591L|CDH16_uc021tjx.1_Missense_Mutation_p.P591L|CDH16_uc002eqm.3_Missense_Mutation_p.P494L NM_004062 NP_004053 O75309 CAD16_HUMAN Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA. 591 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D590E(1) endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203) TCGGCTGATGGGGTCGGAGGG 0.637000 27 14 0 0 0.002450 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73022807 73022807 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:73022807C>T uc001otu.3 + 0 3145 c.3124C>T c.(3124-3126)Ccc>Tcc p.P1042S NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 1042 Pro-rich. actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGAGGCCAAGCCCCCTGAGGC 0.642000 19 5 0 0 0.001168 0 0 NLRP8 126205 broad.mit.edu 37 19 56473470 56473470 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56473470G>A uc002qmh.3 + 3 2151 c.2080G>A c.(2080-2082)Gac>Aac p.D694N NLRP8_uc010etg.3_Missense_Mutation_p.D694N NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 694 cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) TTGGTGGCAAGACTTATGCTC 0.483000 62 29 0 0 0.003755 0 0 PTPRB 5787 broad.mit.edu 37 12 70949670 70949670 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:70949670C>T uc001swb.4 - 16 4349 c.4319G>A c.(4318-4320)aGc>aAc p.S1440N PTPRB_uc010sto.2_Missense_Mutation_p.S1350N|PTPRB_uc010stp.2_Missense_Mutation_p.S1350N|PTPRB_uc001swc.4_Missense_Mutation_p.S1658N|PTPRB_uc001swa.4_Missense_Mutation_p.S1570N NM_002837 NP_002828 P23467 PTPRB_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA. 1440 Fibronectin type-III 16. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TGTGATAGTGCTGTCTTCAAC 0.522000 12 7 0 0 0.004482 0 0 KANSL1L 151050 broad.mit.edu 37 2 211018925 211018925 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:211018925G>A uc002vds.3 - 1 590 c.382C>T c.(382-384)Cat>Tat p.H128Y KANSL1L_uc002vdt.3_Missense_Mutation_p.H128Y|KANSL1L_uc002vdw.3_Missense_Mutation_p.H128Y|KANSL1L_uc002vdy.1_Missense_Mutation_p.H128Y|KANSL1L_uc002vdv.3_Missense_Mutation_p.H128Y|KANSL1L_uc002vdx.1_Missense_Mutation_p.H128Y NM_152519 NP_689732 A0AUZ9 CB067_HUMAN Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA. 128 TCTTCAGAATGAGAAAGACAG 0.363000 28 13 0 0 0.004007 0 0 CEP164 22897 broad.mit.edu 37 11 117251344 117251344 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:117251344G>A uc001prc.3 + 11 1479 c.1332G>A c.(1330-1332)ctG>ctA p.L444L CEP164_uc001prb.3_Silent_p.L444L|CEP164_uc010rxk.1_Silent_p.L418L|CEP164_uc001prf.3_Non-coding_Transcript|CEP164_uc009yzp.1_Non-coding_Transcript NM_014956 NP_055771 Q9UPV0 CE164_HUMAN Homo sapiens centrosomal protein 164kDa (CEP164), mRNA. 444 DNA repair|G2/M transition of mitotic cell cycle|cell division|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AGCAACCACTGGGAATAGAAG 0.537000 6 5 0 0 0.001168 0 0 CCDC80 151887 broad.mit.edu 37 3 112324500 112324500 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:112324500C>T uc003dzf.3 - 7 2835 c.2617G>A c.(2617-2619)Gga>Aga p.G873R CCDC80_uc011bhv.2_Missense_Mutation_p.G846R|CCDC80_uc003dzg.3_Missense_Mutation_p.G873R NM_199512 NP_955806 Q76M96 CCD80_HUMAN Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA. 873 p.D872D(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 TTGACATTTCCGTCTTTTCCG 0.448000 29 11 0 0 0.000673 0 0 MYO7A 4647 broad.mit.edu 37 11 76910695 76910695 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76910695G>A uc001oyb.2 + 34 4956 c.4684G>A c.(4684-4686)Gga>Aga p.G1562R MYO7A_uc010rsm.1_Splice_Site_p.R1512_splice|MYO7A_uc001oyc.2_Splice_Site_p.R1523_splice|MYO7A_uc009yus.1_Splice_Site|MYO7A_uc009yut.1_Splice_Site_p.R734_splice NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1562 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 GTCCTGCAGGGGAGCGAAAAC 0.632000 6 6 0 0 0.001984 0 0 CTAG2 30848 broad.mit.edu 37 X 153880851 153880851 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:153880851G>A uc004fmi.2 - 1 388 c.324C>T c.(322-324)atC>atT p.I108I CTAG2_uc004fmh.2_Silent_p.I108I NM_020994 NP_066274 O75638 CTAG2_HUMAN Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA. 108 centrosome p.I108I(4)|p.I108S(1) central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1) 10 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CCCGGGACAGGATCCTGCGGA 0.612000 7 22 0 0 0.003330 0 0 PADI1 29943 broad.mit.edu 37 1 17531800 17531800 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:17531800C>T uc001bah.1 + 0 180 c.88C>T c.(88-90)Cac>Tac p.H30Y NM_013358 NP_037490 Q9ULC6 PADI1_HUMAN Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA. 30 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGTGGACATTCACAGGTAAGA 0.577000 19 4 0 0 0.000602 0 0 LILRB4 11006 broad.mit.edu 37 19 55177763 55177763 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55177763G>A uc002qgp.3 + 7 1309 c.947G>A c.(946-948)aGg>aAg p.R316K LILRB4_uc002qgq.3_Missense_Mutation_p.R316K|LILRB4_uc010ert.3_Missense_Mutation_p.R357K|LILRB4_uc010eru.3_Missense_Mutation_p.R345K NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 316 integral to membrane|plasma membrane antigen binding|receptor activity p.R316K(2) breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GGCCTACAGAGGAGGTAATTC 0.617000 29 10 0 0 0.000978 0 0 CD276 80381 broad.mit.edu 37 15 73996205 73996205 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:73996205C>T uc002avv.1 + 4 1173 c.939C>T c.(937-939)ctC>ctT p.L313L CD276_uc010bjd.1_Silent_p.L167L|CD276_uc002avu.1_Silent_p.L313L|CD276_uc002avw.1_Intron|CD276_uc010ulb.1_Silent_p.L259L NM_001024736 NP_001019907 Q5ZPR3 CD276_HUMAN Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA. 313 Ig-like V-type 2. T cell activation|cell proliferation|immune response|positive regulation of T cell proliferation|positive regulation of interferon-gamma biosynthetic process|regulation of immune response external side of plasma membrane|integral to membrane receptor binding endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 13 GCACGGCCCTCTTCCCGGACC 0.632000 12 5 0 0 0.000602 0 0 SLC25A51P1 442229 broad.mit.edu 37 6 66498550 66498550 + RNA SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:66498550C>T uc011dxw.2 + 0 c.779C>T Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA. AAACTTGTATCCTGGAATCCT 0.458000 5 12 0 0 0.001368 0 0 LRRC7 57554 broad.mit.edu 37 1 70452014 70452014 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:70452014C>T uc001dep.3 + 7 792 c.762C>T c.(760-762)gcC>gcT p.A254A LRRC7_uc009wbg.3_5'UTR NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 254 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GATGTGAAGCCCTTGAGGACC 0.338000 12 11 0 0 0.000978 0 0 KCNB2 9312 broad.mit.edu 37 8 73850049 73850049 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:73850049G>A uc003xzb.3 + 2 3047 c.2459G>A c.(2458-2460)gGg>gAg p.G820E NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 820 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding p.P819S(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) GAGCTCCCAGGGGCAAGGGAG 0.507000 66 13 0 0 0.001855 0 0 SLC12A8 84561 broad.mit.edu 37 3 124826509 124826509 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124826509C>T uc003ehw.4 - 9 1678 c.1608G>A c.(1606-1608)ttG>ttA p.L536L SLC12A8_uc003ehv.4_Silent_p.L507L|SLC12A8_uc003eht.4_Silent_p.L308L|SLC12A8_uc010hry.3_Silent_p.L260L NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 507 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 ATTTGAGGTCCAAGAGGAAGC 0.562000 52 34 0 0 0.003271 0 0 KLRK1 22914 broad.mit.edu 37 12 10539580 10539580 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:10539580C>T uc009zhj.3 - 2 247 c.70G>A c.(70-72)Gat>Aat p.D24N AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Missense_Mutation_p.D24N|KLRK1_uc009zhk.3_Missense_Mutation_p.D24N|KLRK1_uc001qyd.3_Missense_Mutation_p.D24N NM_007360 NP_001186734 P26718 NKG2D_HUMAN Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA. 24 T cell costimulation|natural killer cell activation integral to plasma membrane sugar binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1) 9 TTCTTCAGATCCAAGTTATAA 0.338000 5 8 0 0 0.006214 0 0 PPARG 5468 broad.mit.edu 37 3 12421418 12421418 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:12421418C>T uc003bwx.3 + 1 389 c.298C>T c.(298-300)Caa>Taa p.Q100* PPARG_uc003bwr.3_Nonsense_Mutation_p.Q72*|PPARG_uc003bws.3_Nonsense_Mutation_p.Q72*|PPARG_uc003bwu.3_Nonsense_Mutation_p.Q72*|PPARG_uc003bwv.3_Nonsense_Mutation_p.Q72*|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc010hdz.1_Non-coding_Transcript|PPARG_uc003bwt.1_Nonsense_Mutation_p.Q72*|PPARG_uc003bww.1_Nonsense_Mutation_p.Q100* NM_015869 NP_619726 P37231 PPARG_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA. 100 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) CCTGAAACTTCAAGAGTACCA 0.378000 T PAX8 follicular thyroid """Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension""" 60 75 0 0 0.003610 0 0 PHKA2 5256 broad.mit.edu 37 X 18963270 18963270 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:18963270C>T uc004cyv.4 - 5 974 c.544G>A c.(544-546)Gga>Aga p.G182R PHKA2_uc010nfh.1_Non-coding_Transcript|PHKA2_uc010nfi.1_Missense_Mutation_p.G124R NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 182 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) TCCCACATTCCATAATCCTGG 0.473000 5 15 0 0 0.002450 0 0 OR9A2 135924 broad.mit.edu 37 7 142723527 142723527 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:142723527C>T uc003wcc.1 - 0 693 c.693G>A c.(691-693)agG>agA p.R231R NM_001001658 NP_001001658 Q8NGT5 OR9A2_HUMAN Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA. 231 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) AGAAGGCTTTCCTCCGGCCAG 0.488000 37 21 0 0 0.002780 0 0 KRT83 3889 broad.mit.edu 37 12 52708528 52708528 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:52708528C>T uc001saf.2 - 8 1432 c.1369G>A c.(1369-1371)Gtc>Atc p.V457I NM_002282 NP_002273 P78385 KRT83_HUMAN Homo sapiens keratin 83 (KRT83), mRNA. 457 Tail. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCACTGCAGACGCTGCCCGTC 0.672000 8 5 0 0 0.000602 0 0 KIF21B 23046 broad.mit.edu 37 1 200978053 200978053 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:200978053C>T uc001gvs.2 - 2 608 c.291G>A c.(289-291)atG>atA p.M97I KIF21B_uc009wzl.2_Missense_Mutation_p.M97I|KIF21B_uc001gvr.2_Missense_Mutation_p.M97I|KIF21B_uc010ppn.2_Missense_Mutation_p.M97I NM_001252100 NP_001239029 O75037 KI21B_HUMAN Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA. 97 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 AGCCAGTGCCCATGGTGTACG 0.632000 48 28 0 0 0.006320 0 0 MAPK1 5594 broad.mit.edu 37 22 22142678 22142678 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:22142678C>T uc002zvn.3 - 6 965 c.725_splice c.e6-1 p.G242_splice MAPK1_uc002zvo.3_Splice_Site_p.G242_splice|MAPK1_uc010gtk.1_Intron NM_002745 NP_620407 P28482 MK01_HUMAN Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA. 242 Protein kinase. ERK1 and ERK2 cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|nerve growth factor receptor signaling pathway|platelet activation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleoplasm ATP binding|DNA binding|MAP kinase activity|RNA polymerase II carboxy-terminal domain kinase activity|phosphatase binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Colorectal(54;0.105) all_lung(157;3.89e-05) READ - Rectum adenocarcinoma(21;0.0689) Arsenic trioxide(DB01169) CCAAGAATACCTATCAGATAA 0.358000 54 21 0 0 0.002780 0 0 ASB15 142685 broad.mit.edu 37 7 123257671 123257671 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:123257671G>A uc003vku.1 + 6 623 c.331G>A c.(331-333)Gga>Aga p.G111R ASB15_uc003vkv.1_Missense_Mutation_p.G111R|ASB15_uc003vkw.1_Missense_Mutation_p.G111R NM_080928 NP_563616 Q8WXK1 ASB15_HUMAN Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA. 111 intracellular signal transduction breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3) 12 GACCTGTGATGGAGAAACACC 0.378000 50 22 0 0 0.005443 0 0 GNB4 59345 broad.mit.edu 37 3 179123136 179123136 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:179123136A>C uc003fjv.4 - 8 1038 c.758T>G c.(757-759)tTt>tGt p.F253C GNB4_uc003fju.4_Intron NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA. 253 cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 16 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) ACGAAGGTCAAAGAGCCGGCA 0.418000 18 6 0 0 0.001168 0 0 USP40 55230 broad.mit.edu 37 2 234442328 234442328 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234442328T>A uc010zmr.2 - 9 1301 c.1301A>T c.(1300-1302)cAa>cTa p.Q434L USP40_uc010zmt.1_Missense_Mutation_p.Q78L NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 422 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) GTCATTCCTTTGGAAATCAGA 0.393000 19 15 0 0 0.003163 0 0 HLA-A 3105 broad.mit.edu 37 6 29910668 29910668 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:29910668G>A uc003nol.3 + 1 292 c.208G>A c.(208-210)Gag>Aag p.E70K HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Intron|AK097625_uc003nog.1_Intron|HLA-A_uc021ytz.1_Missense_Mutation_p.E70K|HLA-A_uc010jrq.3_5'UTR|HLA-A_uc003nok.3_5'UTR|HLA-A_uc021yua.1_Missense_Mutation_p.G113E|HLA-A_uc010klp.2_Missense_Mutation_p.E42K|HLA-A_uc011dmc.2_5'UTR|HLA-A_uc011dmd.2_5'Flank|HLA-A_uc021yub.1_5'Flank NM_002116 NP_002107 P30443 1A01_HUMAN Homo sapiens major histocompatibility complex, class I, A (HLA-A), transcript variant 1, mRNA. 70 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway MHC class I protein complex|integral to plasma membrane MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 CCAGAGGATGGAGCCGCGGGC 0.692000 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 7 9 0 0 0.000673 0 0 ANK3 288 broad.mit.edu 37 10 61834849 61834849 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:61834849T>C uc001jky.3 - 36 6128 c.5790A>G c.(5788-5790)caA>caG p.Q1930Q ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1930 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 GGAGTTCAGGTTGGAATGGCT 0.403000 25 10 0 0 0.000673 0 0 EDAR 10913 broad.mit.edu 37 2 109522810 109522810 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:109522810C>T uc010fjn.3 - 10 1621 c.1074G>A c.(1072-1074)agG>agA p.R358R EDAR_uc010yws.2_Silent_p.R358R|EDAR_uc002teq.4_Silent_p.R326R NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN Homo sapiens ectodysplasin A receptor (EDAR), mRNA. 326 Death. R -> Q (in EDA). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1) 16 GGATCTTTTTCCTCCGGCTTT 0.507000 41 7 0 0 0.003080 0 0 USP34 9736 broad.mit.edu 37 2 61493252 61493252 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:61493252C>T uc002sbe.3 - 41 5506 c.5484G>A c.(5482-5484)aaG>aaA p.K1828K USP34_uc002sbf.3_5'UTR NM_014709 NP_055524 Q70CQ2 UBP34_HUMAN Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA. 1828 Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) GTTGTCGGTCCTTTAGACTTG 0.383000 23 15 0 0 0.003163 0 0 COL6A2 1292 broad.mit.edu 37 21 47545180 47545180 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:47545180G>A uc002zia.1 + 24 1853 c.1771_splice c.e24-1 p.E591_splice COL6A2_uc002zhz.1_Splice_Site_p.E591_splice|COL6A2_uc002zhy.1_Splice_Site_p.E591_splice NM_001849 NP_001840 P12110 CO6A2_HUMAN Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA. 591 Nonhelical region. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) TGCATTGCAGGAGTGTGACGT 0.687000 43 30 0 0 0.001951 0 0 HKDC1 80201 broad.mit.edu 37 10 71020984 71020985 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:71020984_71020985GG>AA uc001jpf.4 + 15 2439_2440 c.2306_2307GG>AA c.(2305-2307)ggg>gAA p.G769E HKDC1_uc010qje.2_Missense_Mutation_p.G632E|HKDC1_uc009xqb.3_Non-coding_Transcript NM_025130 NP_079406 Q2TB90 HKDC1_HUMAN Homo sapiens hexokinase domain containing 1 (HKDC1), mRNA. 769 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CTCTTCCGAGGGCAGATTTCAG 0.530000 24 13 0 0 0.004672 0 0 PRAMEF13 400736 broad.mit.edu 37 1 13448286 13448286 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:13448286G>A uc009vnt.1 - 3 1228 c.1045C>T c.(1045-1047)Ctg>Ttg p.L349L PRAMEF13_uc010obi.1_Silent_p.L397L NM_001099854 NP_001093324 Q5VWM6 PRA13_HUMAN Homo sapiens PRAME family member 14 (PRAMEF14), mRNA. 397 breast(1)|large_intestine(1)|lung(3)|skin(2) 7 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGCGCAACAGGTCCTTCAGG 0.547000 42 22 0 0 0.001512 0 0 VWF 7450 broad.mit.edu 37 12 6125316 6125316 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:6125316G>A uc001qnn.1 - 30 5644 c.5394C>T c.(5392-5394)atC>atT p.I1798I VWF_uc010set.1_Intron NM_000552 NP_000543 P04275 VWF_HUMAN Homo sapiens von Willebrand factor (VWF), mRNA. 1798 VWFA 3; main binding site for collagens type I and III. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CCGTGACCAGGATGACCACCG 0.552000 15 13 0 0 0.001855 0 0 L1CAM 3897 broad.mit.edu 37 X 153134070 153134071 + Silent DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:153134070_153134071GG>AA uc004fjb.3 - 11 1599_1600 c.1491_1492CC>TT c.(1489-1494)tgcctg>tgTTtg p.497_498CL>CL L1CAM_uc004fjc.3_Silent_p.497_498CL>CL|L1CAM_uc010nuo.3_Silent_p.492_493CL>CL|L1CAM_uc004fjd.1_Silent_p.311_312CL>CL NM_000425 NP_000416 P32004 L1CAM_HUMAN Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA. 497 Ig-like C2-type 5. C -> Y (in HSAS). axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGGCAGCCAGGCAGAAGTAGC 0.554000 4 20 0 0 0.004672 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125204409 125204409 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:125204409G>A uc010flu.3 + 5 1177 c.813G>A c.(811-813)tcG>tcA p.S271S CNTNAP5_uc002tno.3_Silent_p.S271S NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 271 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding p.H270N(1) NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ACTGGCACTCGGTCCTCATTG 0.612000 27 11 0 0 0.000978 0 0 HIP1 3092 broad.mit.edu 37 7 75221720 75221720 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:75221720G>A uc003uds.2 - 2 342 c.297C>T c.(295-297)ttC>ttT p.F99F HIP1_uc011kfz.2_Silent_p.F99F NM_005338 NP_005329 O00291 HIP1_HUMAN Homo sapiens huntingtin interacting protein 1 (HIP1), transcript variant 1, mRNA. 99 ENTH. activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|clathrin coated vesicle membrane|cytoskeleton|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 GGAGTTTGTGGAACACATGGC 0.592000 T PDGFRB CMML 6 7 0 0 0.001984 0 0 HAO1 54363 broad.mit.edu 37 20 7895057 7895057 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:7895057G>A uc002wmw.1 - 2 323 c.299C>T c.(298-300)tCc>tTc p.S100F HAO1_uc010gbu.3_Missense_Mutation_p.S100F NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA. 100 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 CGTTCCCAGGGACTGACAGGC 0.502000 15 12 0 0 0.002450 0 0 PRB1 5542 broad.mit.edu 37 12 11506501 11506501 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:11506501G>A uc001qzw.1 - 3 570 c.533C>T c.(532-534)cCa>cTa p.P178L PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron NM_005039 NP_005030 P04280 PRP1_HUMAN Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA. 199 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGTCCTTGTGGCTTTCCTGG 0.602000 29 50 0 0 0.003610 0 0 UGT2B11 10720 broad.mit.edu 37 4 70074168 70074168 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:70074168T>G uc003heh.3 - 2 912 c.903A>C c.(901-903)gaA>gaC p.E301D AK124272_uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA. 301 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 42 CAACACCATTTTCTCCAGAGC 0.423000 72 30 0 0 0.003755 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54905578 54905578 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:54905578A>G uc003dhf.3 + 17 1687 c.1639A>G c.(1639-1641)Aaa>Gaa p.K547E CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.K453E|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.K281E NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA. 547 Cache. 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) CGAAGAAGGAAAAAAGCGAAG 0.448000 23 18 0 0 0.001216 0 0 SULT2A1 6822 broad.mit.edu 37 19 48386976 48386976 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:48386976G>A uc002phr.2 - 1 343 c.203C>T c.(202-204)tCt>tTt p.S68F NM_003167 NP_003158 Q06520 ST2A1_HUMAN Homo sapiens sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1 (SULT2A1), mRNA. 68 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) GATGGGCACAGATTGGATCCA 0.483000 24 13 0 0 0.006122 0 0 RP1 6101 broad.mit.edu 37 8 55540583 55540583 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:55540583A>C uc003xsd.1 + 3 4289 c.4141A>C c.(4141-4143)Aaa>Caa p.K1381Q RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 1381 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCCTGAATATAAAAATGGATT 0.328000 48 25 0 0 0.003330 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50466841 50466841 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:50466841G>A uc001vdk.2 + 0 2297 c.2115G>A c.(2113-2115)gtG>gtA p.V705V Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. TGTTTCCAGTGGATACGAGGG 0.522000 83 29 0 0 0.001512 0 0 RYR3 6263 broad.mit.edu 37 15 33831581 33831581 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:33831581C>T uc001zhi.3 + 5 534 c.464C>T c.(463-465)gCt>gTt p.A155V RYR3_uc010bar.3_Missense_Mutation_p.A155V NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 155 MIR 1. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) ATACATCCTGCTTCCAAACAG 0.458000 5 7 0 0 0.004482 0 0 PCLO 27445 broad.mit.edu 37 7 82584294 82584294 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82584294T>A uc003uhx.2 - 4 6264 c.5975A>T c.(5974-5976)aAg>aTg p.K1992M PCLO_uc003uhv.2_Missense_Mutation_p.K1992M NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 1923 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AAGTCTTATCTTTTGCTCTCT 0.378000 101 50 0 0 0.003610 0 0 MYO1H 283446 broad.mit.edu 37 12 109853352 109853353 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:109853352_109853353GG>AA uc010sxn.1 + 13 1476_1477 c.1476_1477GG>AA c.(1474-1479)aagggc>aaAAgc p.G493S NM_001101421 NP_001094891 B4DNW6 B4DNW6_HUMAN Homo sapiens myosin IH (MYO1H), mRNA. 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 CTGGTCCAAAGGGCCGAAAGAG 0.520000 2 3 0 0 0.004672 0 0 CACNA1G 8913 broad.mit.edu 37 17 48701351 48701351 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48701351C>T uc002irk.1 + 35 6516 c.6144C>T c.(6142-6144)ccC>ccT p.P2048P CACNA1G_uc002irj.1_Silent_p.P1921P|CACNA1G_uc002irl.1_Silent_p.P1932P|CACNA1G_uc002irm.1_Silent_p.P1969P|CACNA1G_uc002irn.1_Silent_p.P1914P|CACNA1G_uc002iro.1_Silent_p.P1921P|CACNA1G_uc002irp.1_Silent_p.P2003P|CACNA1G_uc002irq.1_Silent_p.P2025P|CACNA1G_uc002irr.1_Silent_p.P1955P|CACNA1G_uc002irs.1_Silent_p.P1992P|CACNA1G_uc002irt.1_Silent_p.P1937P|CACNA1G_uc002iru.1_Silent_p.P2014P|CACNA1G_uc002irv.1_Silent_p.P1944P|CACNA1G_uc002irw.1_Silent_p.P1977P|CACNA1G_uc002irx.1_Silent_p.P1868P|CACNA1G_uc002iry.1_Silent_p.P1857P|CACNA1G_uc002isg.1_Silent_p.P1816P|CACNA1G_uc002ish.1_Silent_p.P1823P|CACNA1G_uc002isi.1_Silent_p.P1811P|CACNA1G_uc002irz.1_Silent_p.P1861P|CACNA1G_uc002isa.1_Silent_p.P1834P|CACNA1G_uc002isd.1_Silent_p.P1843P|CACNA1G_uc002isb.1_Silent_p.P1875P|CACNA1G_uc002isc.1_Silent_p.P1950P|CACNA1G_uc002ise.1_Silent_p.P1871P|CACNA1G_uc002isf.1_Silent_p.P1898P NM_018896 NP_061496 O43497 CAC1G_HUMAN Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA. 2048 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) ACTCTCTGCCCAATGACAGCT 0.632000 24 44 0 0 0.002522 0 0 FAM47A 158724 broad.mit.edu 37 X 34148540 34148540 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:34148540C>T uc004ddg.3 - 0 1908 c.1856G>A c.(1855-1857)gGa>gAa p.G619E NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA. 619 NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TTCATCAGCTCCCAGGTCTCC 0.433000 8 21 0 0 0.003954 0 0 ANK2 287 broad.mit.edu 37 4 114279687 114279687 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:114279687C>T uc003ibe.4 + 37 10013 c.9913C>T c.(9913-9915)Cct>Tct p.P3305S ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P3320S NM_001148 NP_001139 Q01484 ANK2_HUMAN Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA. 3272 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCCAAAATTCCTGTAAGGAC 0.428000 60 23 0 0 0.006320 0 0 DSG2 1829 broad.mit.edu 37 18 29101149 29101149 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:29101149G>A uc002kwu.4 + 4 654 c.466G>A c.(466-468)Gaa>Aaa p.E156K NM_001943 NP_001934 Q14126 DSG2_HUMAN Homo sapiens desmoglein 2 (DSG2), mRNA. 156 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) CAATGACAACGAACCAGTGTT 0.373000 26 27 0 0 0.001786 0 0 TEX11 56159 broad.mit.edu 37 X 69774522 69774522 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:69774522T>C uc004dyl.3 - 26 2476 c.2314A>G c.(2314-2316)Aaa>Gaa p.K772E TEX11_uc004dyk.3_Missense_Mutation_p.K447E|TEX11_uc004dym.3_Missense_Mutation_p.K757E NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA. 772 protein binding p.H772Q(1) breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCAAAAGTTTTAGTTTCTAAA 0.363000 5 8 0 0 0.004482 0 0 RFX6 222546 broad.mit.edu 37 6 117248234 117248234 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:117248234C>T uc003pxm.3 + 16 1993 c.1930C>T c.(1930-1932)Ccc>Tcc p.P644S NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 644 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 GATGACACCACCCATTTCTCC 0.488000 21 27 0 0 0.006320 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846785 47846785 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:47846785C>T uc011dwm.2 - 2 1829 c.1795G>A c.(1795-1797)Gat>Aat p.D599N PTCHD4_uc011dwn.2_Missense_Mutation_p.D346N NM_001013732 NP_001013754 Q6ZW05 CF138_HUMAN Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA. 599 integral to membrane hedgehog receptor activity TTGCTTTCATCCCCTGCCTTG 0.423000 18 12 0 0 0.001368 0 0 SLC6A7 6534 broad.mit.edu 37 5 149574312 149574312 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:149574312A>C uc003lrr.3 + 1 426 c.55A>C c.(55-57)Atg>Ctg p.M19L NM_014228 NP_055043 Q99884 SC6A7_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA. 19 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) AGACCTGCTGATGACCCCCAG 0.582000 4 6 0 0 0.001168 0 0 CTAGE10P 220429 broad.mit.edu 37 13 50466161 50466161 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:50466161G>A uc001vdk.2 + 0 1617 c.1435G>A c.(1435-1437)Gaa>Aaa p.E479K Homo sapiens CTAGE family, member 10, pseudogene (CTAGE10P), non-coding RNA. TTTAAGGAAAGAAAATGCTCA 0.313000 9 6 0 0 0.001168 0 0 HERC5 51191 broad.mit.edu 37 4 89390350 89390350 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:89390350G>A uc003hrt.3 + 8 1330 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K HERC5_uc011cdm.2_Missense_Mutation_p.E31K NM_016323 NP_057407 Q9UII4 HERC5_HUMAN Homo sapiens hect domain and RLD 5 (HERC5), mRNA. 393 ISG15-protein conjugation|innate immune response|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus cytosol|perinuclear region of cytoplasm ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4) 53 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000209) TACTCTGAATGAAGGGACTGT 0.398000 13 6 0 0 0.001984 0 0 ANKFN1 162282 broad.mit.edu 37 17 54428197 54428197 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:54428197C>T uc002iun.1 + 3 303 c.268C>T c.(268-270)Ccc>Tcc p.P90S NM_153228 NP_694960 Q8N957 ANKF1_HUMAN Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA. 90 NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1) 53 ACATAGTGCTCCCTCATCTCC 0.433000 41 17 0 0 0.004007 0 0 OR5D13 390142 broad.mit.edu 37 11 55541213 55541213 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55541213C>T uc010ril.2 + 0 300 c.300C>T c.(298-300)atC>atT p.I100I NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA. 100 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1) 40 all_epithelial(135;0.196) CTGGTTGCATCATGCAATTTT 0.408000 64 24 0 0 0.003330 0 0 DLEC1 9940 broad.mit.edu 37 3 38104199 38104199 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:38104199C>T uc003chp.1 + 4 1022 c.1001C>T c.(1000-1002)cCt>cTt p.P334L DLEC1_uc003cho.1_Missense_Mutation_p.P334L|DLEC1_uc010hgv.1_Missense_Mutation_p.P334L|DLEC1_uc010hgw.1_Missense_Mutation_p.P33L|DLEC1_uc003chq.1_Non-coding_Transcript NM_007337 NP_031363 Q9Y238 DLEC1_HUMAN Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA. 334 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CGTTTTTTTCCTCCTAACACT 0.473000 29 25 0 0 0.003330 0 0 MCM5 4174 broad.mit.edu 37 22 35815966 35815967 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:35815966_35815967GG>AA uc003anu.4 + 13 1887_1888 c.1793_1794GG>AA c.(1792-1794)agg>aAA p.R598K MCM5_uc003anv.4_Missense_Mutation_p.R555K|MCM5_uc003anw.1_Missense_Mutation_p.R382K NM_006739 NP_006730 P33992 MCM5_HUMAN Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA. 598 ARQHERDSDRR -> PVSTRGTVTA (in Ref. 3; BAA12176). DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint MCM complex ATP binding|DNA binding|helicase activity|protein binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 CAGCACGAGAGGGACAGTGACC 0.644000 50 22 0 0 0.004672 0 0 UBIAD1 29914 broad.mit.edu 37 1 11346122 11346122 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:11346122C>T uc001asg.3 + 1 1285 c.951C>T c.(949-951)ctC>ctT p.L317L NM_013319 NP_037451 Q9Y5Z9 UBIA1_HUMAN Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA. 317 menaquinone biosynthetic process endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus prenyltransferase activity endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3) 12 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487) AGCTCAACCTCCTGCTGGGAC 0.547000 34 18 0 0 0.006122 0 0 ZNF792 126375 broad.mit.edu 37 19 35449162 35449162 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:35449162G>A uc002nxh.1 - 3 1984 c.1597C>T c.(1597-1599)Cct>Tct p.P533S NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN Homo sapiens zinc finger protein 792 (ZNF792), mRNA. 533 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CACTCATAAGGCCGCTCGCCG 0.522000 12 12 0 0 0.000978 0 0 SLC44A5 204962 broad.mit.edu 37 1 75679471 75679471 + Silent SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:75679471C>G uc010oqz.1 - 20 2064 c.1998G>C c.(1996-1998)ctG>ctC p.L666L SLC44A5_uc001dgt.2_Silent_p.L627L|SLC44A5_uc001dgs.2_Silent_p.L585L|SLC44A5_uc001dgr.2_Silent_p.L585L|SLC44A5_uc001dgu.3_Silent_p.L627L|SLC44A5_uc010ora.2_Silent_p.L621L|SLC44A5_uc010orb.2_Silent_p.L497L NM_001130058 NP_001123530 Q8NCS7 CTL5_HUMAN Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA. 627 integral to membrane|plasma membrane choline transmembrane transporter activity kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 ATAGGAAGGCCAGAACACCTA 0.368000 53 28 0 0 0.007291 0 0 JHDM1D 80853 broad.mit.edu 37 7 139791834 139791834 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:139791834G>A uc003vvm.3 - 18 2505 c.2501C>T c.(2500-2502)tCa>tTa p.S834L JHDM1D_uc010lng.3_Non-coding_Transcript NM_030647 NP_085150 Q6ZMT4 KDM7_HUMAN Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA. 834 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) ACTAATTTCTGATGAACCTTC 0.418000 15 9 0 0 0.004482 0 0 CCDC109B 55013 broad.mit.edu 37 4 110585478 110585478 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:110585478G>A uc011cfs.2 + 3 518 c.379G>A c.(379-381)Gat>Aat p.D127N CCDC109B_uc010imf.2_Missense_Mutation_p.D127N NM_017918 NP_060388 Q9NWR8 C109B_HUMAN Homo sapiens coiled-coil domain containing 109B (CCDC109B), mRNA. 127 integral to membrane breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1) 9 OV - Ovarian serous cystadenocarcinoma(123;6.65e-06) TACCTTGATGGATATTTTGCT 0.333000 13 4 0 0 0.000602 0 0 NPTXR 23467 broad.mit.edu 37 22 39222537 39222537 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:39222537G>A uc003awk.3 - 2 1220 c.1066C>T c.(1066-1068)Cat>Tat p.H356Y NM_014293 NP_055108 O95502 NPTXR_HUMAN Homo sapiens neuronal pentraxin receptor (NPTXR), mRNA. 356 Pentaxin. integral to membrane metal ion binding central_nervous_system(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 Melanoma(58;0.04) ATGGGCTCATGGCCCGCCTCT 0.662000 37 29 0 0 0.002445 0 0 TPH1 7166 broad.mit.edu 37 11 18047183 18047183 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:18047183G>A uc001mnp.2 - 6 895 c.869C>T c.(868-870)tCc>tTc p.S290F TPH1_uc009yhe.2_Non-coding_Transcript NM_004179 NP_004170 P17752 TPH1_HUMAN Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA. 290 aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) AATTTCTTGGGAGAATTGGGC 0.463000 19 27 0 0 0.006320 0 0 PPIP5K1 9677 broad.mit.edu 37 15 43827034 43827034 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43827034G>A uc001zrw.3 - 30 4344 c.4140C>T c.(4138-4140)atC>atT p.I1380I PPIP5K1_uc021sjw.1_Silent_p.I1355I|PPIP5K1_uc001zrx.2_Silent_p.I1353I|PPIP5K1_uc001zry.4_Silent_p.I1355I|PPIP5K1_uc021sjx.1_Silent_p.I309I NM_001130858 NP_001124330 Q6PFW1 VIP1_HUMAN Homo sapiens diphosphoinositol pentakisphosphate kinase 1 (PPIP5K1), transcript variant 5, mRNA. 1380 inositol metabolic process cytosol ATP binding|acid phosphatase activity|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity large_intestine(1) 1 GGTATGGCTGGATGACCTCCT 0.527000 62 32 0 0 0.003271 0 0 ADAR 103 broad.mit.edu 37 1 154574584 154574585 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:154574584_154574585GG>AA uc001ffh.3 - 1 775_776 c.533_534CC>TT c.(532-534)tcc>tTT p.S178F ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.S178F|ADAR_uc001ffi.3_Missense_Mutation_p.S178F|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR NM_001111 NP_001180424 P55265 DSRAD_HUMAN Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA. 178 adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway cytoplasm|nucleolus|nucleoplasm DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2) 51 all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997) LUSC - Lung squamous cell carcinoma(543;0.185) Colorectal(1306;0.115) TCTTTGCCAGGGAGTATAAAAC 0.515000 95 42 0 0 0.004672 0 0 SRGAP1 57522 broad.mit.edu 37 12 64491137 64491137 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:64491137G>A uc010ssp.1 + 14 1851 c.1795G>A c.(1795-1797)Gat>Aat p.D599N SRGAP1_uc001srv.2_Missense_Mutation_p.D536N NM_020762 NP_065813 Q7Z6B7 SRGP1_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA. 599 Rho-GAP. axon guidance cytosol breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 65 GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225) GBM - Glioblastoma multiforme(28;0.0608) AAGATTTAACGATCTGATTTC 0.423000 20 15 0 0 0.006122 0 0 ETV5 2119 broad.mit.edu 37 3 185823650 185823650 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:185823650C>T uc003fpy.3 - 1 199 c.134G>A c.(133-135)gGg>gAg p.G45E ETV5_uc003fpz.3_Missense_Mutation_p.G3E NM_004454 NP_004445 P41161 ETV5_HUMAN Homo sapiens ets variant 5 (ETV5), mRNA. 3 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) ATCATAAAACCCGTCCATGGT 0.448000 T """TMPRSS2, SCL45A3""" Prostate 26 9 0 0 0.000673 0 0 SYT16 83851 broad.mit.edu 37 14 62462984 62462984 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:62462984T>C uc001xfu.1 + 0 444 c.247T>C c.(247-249)Tcc>Ccc p.S83P SYT16_uc010tsd.1_Missense_Mutation_p.S83P NM_031914 NP_114120 Q17RD7 SYT16_HUMAN Homo sapiens synaptotagmin XVI (SYT16), mRNA. 83 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GGATGCAAATTCCTTGTTTCT 0.393000 76 21 0 0 0.001882 0 0 EPX 8288 broad.mit.edu 37 17 56271413 56271413 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:56271413G>A uc002ivq.3 + 4 673 c.554G>A c.(553-555)tGg>tAg p.W185* NM_000502 NP_000493 P11678 PERE_HUMAN Homo sapiens eosinophil peroxidase (EPX), mRNA. 185 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CCCTTCGGCTGGACCCCCAGC 0.612000 23 14 0 0 0.002450 0 0 MAN1C1 57134 broad.mit.edu 37 1 26085109 26085109 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:26085109G>A uc001bkm.2 + 5 1286 c.956G>A c.(955-957)gGc>gAc p.G319D MAN1C1_uc009vry.1_Missense_Mutation_p.G139D NM_020379 NP_065112 Q9NR34 MA1C1_HUMAN Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA. 319 post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2) 25 Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232) UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803) GCCACAGCCGGCAGCAGCAGC 0.577000 21 8 0 0 0.004482 0 0 MACF1 23499 broad.mit.edu 37 1 39945528 39945529 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:39945528_39945529CC>TT uc021olw.1 + 61 17277_17278 c.17277_17278CC>TT c.(17275-17280)tcccag>tcTTag p.Q5760* MACF1_uc021ols.1_Nonsense_Mutation_p.Q5249*|MACF1_uc021olt.1_Nonsense_Mutation_p.Q5252*|MACF1_uc001cde.2_Nonsense_Mutation_p.Q129*|MACF1_uc001cdg.3_Nonsense_Mutation_p.Q43*|MACF1_uc001cdh.3_Nonsense_Mutation_p.Q43* NM_012090 NP_036222 Q9UPN3 MACF1_HUMAN Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA. 7210 Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing Golgi apparatus|microtubule|ruffle membrane ATPase activity|actin filament binding|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) AGGGAGCATCCCAGGGAATGAC 0.490000 26 13 0 0 0.004672 0 0 abParts 0 broad.mit.edu 37 22 22664606 22664606 + RNA SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:22664606A>G uc021wml.1 + 32 c.2706A>G abParts_uc011aiq.1_Non-coding_Transcript Parts of antibodies, mostly variable regions. GTCTTCATGCAAACTTGGTAT 0.398000 12 3 0 0 0.004672 0 0 ZNF750 79755 broad.mit.edu 37 17 80788671 80788671 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:80788671C>T uc002kga.3 - 2 1830 c.1519G>A c.(1519-1521)Gac>Aac p.D507N TBCD_uc002kfx.1_Intron|TBCD_uc002kfy.1_Intron|TBCD_uc002kfz.3_Intron NM_024702 NP_078978 Q32MQ0 ZN750_HUMAN Homo sapiens zinc finger protein 750 (ZNF750), mRNA. 507 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) CCGGAGCTGTCGTCCGGACTG 0.612000 26 14 0 0 0.004007 0 0 LILRA1 11024 broad.mit.edu 37 19 55087361 55087361 + Missense_Mutation SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55087361G>T uc010ern.3 + 6 1509 c.1040G>T c.(1039-1041)cGg>cTg p.R347L LILRA1_uc002qgg.4_Missense_Mutation_p.R347L|LILRA1_uc002qgf.3_Missense_Mutation_p.R347L|LILRA1_uc010yfe.1_Missense_Mutation_p.R347L|LILRA1_uc010yff.1_Missense_Mutation_p.R335L|LILRA1_uc010ero.3_Missense_Mutation_p.R335L|LILRA1_uc010yfg.1_Intron O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA. 349 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) TGTCAGTCACGGGGGCAGTTC 0.572000 20 16 3.32936e-07 4.14981e-07 0.006122 1 0 PCDH15 65217 broad.mit.edu 37 10 55839163 55839163 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:55839163C>T uc010qhy.1 - 17 2429 c.2034G>A c.(2032-2034)ggG>ggA p.G678G PCDH15_uc010qhq.2_Silent_p.G678G|PCDH15_uc010qhr.2_Silent_p.G673G|PCDH15_uc021pqv.1_Silent_p.G673G|PCDH15_uc021pqw.1_Silent_p.G685G|PCDH15_uc010qht.2_Silent_p.G680G|PCDH15_uc021pqx.1_Silent_p.G673G|PCDH15_uc001jjv.1_Silent_p.G651G|PCDH15_uc021pqy.1_Silent_p.G673G|PCDH15_uc021pqz.1_Silent_p.G651G|PCDH15_uc010qhv.1_Silent_p.G673G|PCDH15_uc010qhw.1_Silent_p.G636G|PCDH15_uc010qhx.1_Silent_p.G602G|PCDH15_uc010qhz.1_Silent_p.G673G|PCDH15_uc010qia.1_Silent_p.G651G|PCDH15_uc001jju.1_Silent_p.G673G|PCDH15_uc010qib.1_Silent_p.G651G|PCDH15_uc001jjw.3_Silent_p.G673G NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 673 Cadherin 6. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) CCAGTGCTTTCCCTAAGGTTA 0.428000 HNSCC(58;0.16) 131 63 0 0 0.003610 0 0 TRIOBP 11078 broad.mit.edu 37 22 38120377 38120377 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:38120377G>C uc003atr.3 + 6 2085 c.1814G>C c.(1813-1815)cGg>cCg p.R605P TRIOBP_uc003atu.3_Missense_Mutation_p.R433P|TRIOBP_uc003atq.1_Missense_Mutation_p.R605P|TRIOBP_uc003ats.1_Missense_Mutation_p.R433P NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA. 605 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 Melanoma(58;0.0574) TGTGCCCAGCGGGACAATCCC 0.587000 61 11 0 0 0.000673 0 0 TTN 7273 broad.mit.edu 37 2 179395008 179395008 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179395008C>T uc021vsy.1 - 306 98855 c.98630G>A c.(98629-98631)gGa>gAa p.G32877E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26572E|TTN_uc021vta.1_Missense_Mutation_p.G26505E|TTN_uc021vtb.1_Missense_Mutation_p.G26380E|TTN_uc002umq.3_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 33804 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) CCGGGGTTCTCCAGTAGCCTT 0.383000 84 32 0 0 0.003755 0 0 TTN 7273 broad.mit.edu 37 2 179477694 179477694 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179477694G>A uc021vsy.1 - 213 42275 c.42050C>T c.(42049-42051)tCt>tTt p.S14017F MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S7712F|TTN_uc021vta.1_Missense_Mutation_p.S7645F|TTN_uc021vtb.1_Missense_Mutation_p.S7520F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14944 Fibronectin type-III 1. 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) AATGACATAAGACTCAATCTT 0.483000 27 11 0 0 0.000673 0 0 SORT1 6272 broad.mit.edu 37 1 109869750 109869750 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:109869750G>A uc001dxm.2 - 12 1556 c.1507C>T c.(1507-1509)Cca>Tca p.P503S SORT1_uc010ovi.2_Missense_Mutation_p.P366S NM_002959 NP_002950 Q99523 SORT_HUMAN Homo sapiens sortilin 1 (SORT1), transcript variant 1, mRNA. 503 Golgi to endosome transport|endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization Golgi cisterna membrane|cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) TACACATCTGGAACCATCACT 0.478000 191 91 0 0 0.003610 0 0 SETD1A 9739 broad.mit.edu 37 16 30976009 30976009 + Missense_Mutation SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30976009G>T uc002ead.1 + 6 1632 c.946G>T c.(946-948)Gca>Tca p.A316S NM_014712 NP_055527 O15047 SET1A_HUMAN Homo sapiens SET domain containing 1A (SETD1A), mRNA. 316 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent Set1C/COMPASS complex|chromosome|nuclear speck RNA binding|histone-lysine N-methyltransferase activity|nucleotide binding|protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CCACTTCTCTGCATCTTCAGC 0.607000 42 23 5.49717e-05 6.82744e-05 0.003330 1 0 NWD1 284434 broad.mit.edu 37 19 16918482 16918482 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:16918482C>T uc002neu.4 + 17 4244 c.3822C>T c.(3820-3822)ctC>ctT p.L1274L NWD1_uc002net.4_Silent_p.L1139L|NWD1_uc002nev.4_Silent_p.L1068L|NWD1_uc021uqg.1_Silent_p.L1139L NM_001007525 NP_001007526 Q149M9 NWD1_HUMAN Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA. 1274 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 TTACGGGCCTCGTGTCGGGGG 0.577000 25 32 0 0 0.002836 0 0 FAM102A 399665 broad.mit.edu 37 9 130710456 130710457 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:130710456_130710457GG>AA uc004bsx.2 - 5 905_906 c.509_510CC>TT c.(508-510)tcc>tTT p.S170F FAM102A_uc004bsw.1_Missense_Mutation_p.S28F|FAM102A_uc004bsy.1_5'UTR NM_001035254 NP_976050 Q5T9C2 F102A_HUMAN Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA. 170 Ser-rich. breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4) 10 TCAGCTGCAGGGAGGAATCCTG 0.619000 29 12 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82545811 82545811 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82545811G>A uc003uhx.2 - 6 11780 c.11491C>T c.(11491-11493)Cgt>Tgt p.R3831C PCLO_uc003uhv.2_Missense_Mutation_p.R3831C|PCLO_uc010lec.3_Missense_Mutation_p.R796C NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3762 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity p.R3831C(1) breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ATGTAATCACGATCCTCAGCT 0.473000 39 24 0 0 0.003954 0 0 TGM3 7053 broad.mit.edu 37 20 2312718 2312718 + Silent SNP G A A rs45594433 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:2312718G>A uc002wfx.4 + 9 1501 c.1404G>A c.(1402-1404)gcG>gcA p.A468A NM_003245 NP_003236 Q08188 TGM3_HUMAN Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA. 468 Cleavage; by CTSL. cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) CATTTGCCGCGACGTCTTCAA 0.522000 23 13 0 0 0.001855 0 0 PFKFB3 5209 broad.mit.edu 37 10 6255623 6255623 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:6255623C>T uc001ije.3 + 1 498 c.114C>T c.(112-114)atC>atT p.I38I PFKFB3_uc001ijd.3_Silent_p.I18I|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.I52I|PFKFB3_uc001ijf.3_Silent_p.I38I NM_004566 NP_004557 Q16875 F263_HUMAN Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA. 38 6-phosphofructo-2-kinase. fructose 2,6-bisphosphate metabolic process|glycolysis cytosol 6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding p.I38I(3) central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1) 22 CCACCGTCATCGTCATGGTGG 0.582000 55 26 0 0 0.005443 0 0 SERPINA7 6906 broad.mit.edu 37 X 105278308 105278308 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105278308A>C uc010npd.3 - 2 1197 c.962T>G c.(961-963)tTg>tGg p.L321W SERPINA7_uc004eme.2_Missense_Mutation_p.L321W NM_000354 NP_000345 P05543 THBG_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA. 321 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) GCCCATCTTCAAAAGTGTGGC 0.413000 14 27 0 0 0.006320 0 0 ZNF167 55888 broad.mit.edu 37 3 44607118 44607118 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:44607118G>A uc003cnj.3 + 2 979 c.563G>A c.(562-564)gGg>gAg p.G188E ZNF167_uc003cnk.3_Missense_Mutation_p.G188E|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.G188E|ZNF167_uc003cni.3_Missense_Mutation_p.G188E|ZNF167_uc010hio.3_Missense_Mutation_p.G38E NM_018651 NP_061121 Q9P0L1 ZN167_HUMAN Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA. 188 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609) TATGACCCAGGGACACACCAC 0.572000 27 17 0 0 0.004990 0 0 TJP2 9414 broad.mit.edu 37 9 71861675 71861675 + Missense_Mutation SNP A T T rs75450131 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:71861675A>T uc004ahe.3 + 17 2954 c.2636A>T c.(2635-2637)cAa>cTa p.Q879L TJP2_uc011lrs.2_Missense_Mutation_p.Q856L|TJP2_uc011lrt.1_Missense_Mutation_p.Q856L|TJP2_uc004ahd.3_Missense_Mutation_p.Q879L|TJP2_uc004ahf.3_Missense_Mutation_p.Q879L|TJP2_uc011lru.2_Missense_Mutation_p.Q883L|TJP2_uc011lrv.2_Missense_Mutation_p.Q910L|TJP2_uc010mom.1_Missense_Mutation_p.Q39L NM_004817 NP_004808 Q9UDY2 ZO2_HUMAN Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA. 879 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CAGCATCAGCAAGGAGAAGCG 0.423000 54 13 0 0 0.001855 0 0 CACNB2 783 broad.mit.edu 37 10 18828384 18828384 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:18828384G>A uc001ipr.2 + 13 1774 c.1714G>A c.(1714-1716)Gaa>Aaa p.E572K CACNB2_uc001ipt.2_Missense_Mutation_p.E534K|CACNB2_uc009xjz.1_Missense_Mutation_p.E322K|CACNB2_uc001ips.2_Missense_Mutation_p.E548K|CACNB2_uc001ipu.3_Missense_Mutation_p.E544K|CACNB2_uc001ipv.3_Missense_Mutation_p.E520K|CACNB2_uc009xka.2_Missense_Mutation_p.E506K|CACNB2_uc001ipw.2_Missense_Mutation_p.E479K|CACNB2_uc001ipx.2_Missense_Mutation_p.E517K|CACNB2_uc001ipz.2_Missense_Mutation_p.E494K|CACNB2_uc001ipy.2_Missense_Mutation_p.E518K|CACNB2_uc010qco.1_Missense_Mutation_p.E486K|CACNB2_uc001iqa.2_Missense_Mutation_p.E524K|NSUN6_uc001iqb.3_Intron NM_201596 NP_963890 Q08289 CACB2_HUMAN Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA. 572 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity p.R572H(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGAGCCAAAGGAAGATTATTC 0.567000 9 6 0 0 0.001168 0 0 OR10G2 26534 broad.mit.edu 37 14 22102462 22102462 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:22102462C>T uc010tmc.2 - 0 537 c.537G>A c.(535-537)gtG>gtA p.V179V NM_001005466 NP_001005466 Q8NGC3 O10G2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA. 179 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TAAAGTAATCCACCTGATTGG 0.572000 37 18 0 0 0.007413 0 0 LPAR1 1902 broad.mit.edu 37 9 113703904 113703904 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:113703904T>C uc011lwo.2 - 1 595 c.593A>G c.(592-594)aAc>aGc p.N198S LPAR1_uc004bfa.3_Missense_Mutation_p.N197S|LPAR1_uc011lwm.2_Missense_Mutation_p.N198S|LPAR1_uc004bfc.3_Missense_Mutation_p.N197S|LPAR1_uc011lwn.2_Missense_Mutation_p.N179S|LPAR1_uc004bfb.3_Missense_Mutation_p.N197S|LPAR1_uc010mub.3_Missense_Mutation_p.N197S NM_057159 NP_476500 Q92633 LPAR1_HUMAN Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA. 197 positive regulation of I-kappaB kinase/NF-kappaB cascade cell surface|integral to plasma membrane breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1) 21 GGGTGCCATGTTGGAACAATT 0.463000 40 18 0 0 0.001523 0 0 TAT 6898 broad.mit.edu 37 16 71610304 71610304 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:71610304C>T uc002fap.2 - 1 114 c.15G>A c.(13-15)atG>atA p.M5I TAT_uc002faq.3_Missense_Mutation_p.M5I|TAT_uc002far.3_Missense_Mutation_p.M5I NM_000353 NP_000344 P17735 ATTY_HUMAN Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA. 5 2-oxoglutarate metabolic process|L-phenylalanine catabolic process|glutamate metabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) TCATCTGAATCATGTATGGGT 0.512000 41 16 0 0 0.007413 0 0 NLRP7 199713 broad.mit.edu 37 19 55451794 55451794 + Silent SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55451794A>T uc002qih.4 - 3 469 c.393T>A c.(391-393)tcT>tcA p.S131S NLRP7_uc010esk.3_Silent_p.S131S|NLRP7_uc002qig.4_Silent_p.S131S|NLRP7_uc002qii.4_Silent_p.S131S|NLRP7_uc010esl.3_Silent_p.S159S NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 131 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) TCCAGACCAAAGACTGTTTCT 0.418000 205 110 0 0 0.003610 0 0 ADCK1 57143 broad.mit.edu 37 14 78397985 78397985 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:78397985C>T uc001xui.3 + 9 1430 c.1331C>T c.(1330-1332)gCc>gTc p.A444V ADCK1_uc001xuj.3_Missense_Mutation_p.A376V|ADCK1_uc001xul.3_Missense_Mutation_p.A151V NM_020421 NP_065154 Q86TW2 ADCK1_HUMAN Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA. 451 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) ATTGAGGCCGCCCTGGGCACC 0.627000 13 14 0 0 0.002450 0 0 HMGCL 3155 broad.mit.edu 37 1 24147083 24147083 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:24147083C>T uc001bib.3 - 2 105 c.61_splice c.e2-1 p.V21_splice HMGCL_uc010oec.2_Splice_Site_p.V21_splice|HMGCL_uc001bic.3_Splice_Site|HMGCL_uc009vqs.1_Splice_Site_p.V21_splice NM_000191 NP_000182 P35914 HMGCL_HUMAN Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase (HMGCL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 21 acetoacetic acid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA lyase activity|metal ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.0044)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.38e-24)|Colorectal(126;5.58e-08)|COAD - Colon adenocarcinoma(152;3.12e-06)|GBM - Glioblastoma multiforme(114;4.9e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000982)|KIRC - Kidney renal clear cell carcinoma(1967;0.0034)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0856)|LUSC - Lung squamous cell carcinoma(448;0.188) GAGGTGCTGACCTTTGGTTTA 0.403000 54 23 0 0 0.003954 0 0 COL6A3 1293 broad.mit.edu 37 2 238290009 238290009 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:238290009G>A uc002vwl.2 - 4 1731 c.1446C>T c.(1444-1446)atC>atT p.I482I COL6A3_uc002vwo.2_Silent_p.I276I|COL6A3_uc010znj.1_Silent_p.I75I|COL6A3_uc002vwq.3_Silent_p.I276I|COL6A3_uc002vwr.3_Silent_p.I75I|COL6A3_uc010znk.1_Silent_p.I482I NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 482 Nonhelical region.|VWFA 3. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CTGCCACCTGGATAAGATCCT 0.488000 37 17 0 0 0.004990 0 0 SCN4A 6329 broad.mit.edu 37 17 62050004 62050004 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:62050004C>T uc002jds.1 - 0 275 c.198G>A c.(196-198)atG>atA p.M66I NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 66 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CTCCGTAGATCATGGGTAGGT 0.602000 6 9 0 0 0.004482 0 0 KCNJ15 3772 broad.mit.edu 37 21 39671360 39671360 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:39671360C>T uc021wjc.1 + 0 177 c.177C>T c.(175-177)atC>atT p.I59I KCNJ15_uc002ywv.3_Silent_p.I59I|KCNJ15_uc002yww.3_Silent_p.I59I|KCNJ15_uc002ywx.3_Silent_p.I59I NM_170737 NP_733933 Q99712 IRK15_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA. 59 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 24 CCACAGTTATCGACATGAAGT 0.483000 33 18 0 0 0.004990 0 0 ARRDC4 91947 broad.mit.edu 37 15 98512492 98512492 + Silent SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:98512492A>G uc010bom.3 + 4 924 c.765A>G c.(763-765)cgA>cgG p.R255R ARRDC4_uc002bui.4_Silent_p.R168R NM_183376 NP_899232 Q8NCT1 ARRD4_HUMAN Homo sapiens arrestin domain containing 4 (ARRDC4), mRNA. 255 signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3) 16 Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222) OV - Ovarian serous cystadenocarcinoma(32;0.0417) CCAATGTGCGAGGAAACCACA 0.468000 20 13 0 0 0.002450 0 0 OR8B12 219858 broad.mit.edu 37 11 124413323 124413323 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:124413323G>A uc010sam.2 - 0 228 c.228C>T c.(226-228)atC>atT p.I76I NM_001005195 NP_001005195 Q8NGG6 OR8BC_HUMAN Homo sapiens olfactory receptor, family 8, subfamily B, member 12 (OR8B12), mRNA. 76 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0213) TTTTGGGAGTGATGGTAGTGG 0.428000 14 10 0 0 0.006214 0 0 DRD3 1814 broad.mit.edu 37 3 113850117 113850117 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113850117G>A uc003ebd.2 - 6 1277 c.854C>T c.(853-855)tCc>tTc p.S285F DRD3_uc010hqn.1_Missense_Mutation_p.S285F|DRD3_uc003ebb.1_Missense_Mutation_p.S285F|DRD3_uc003ebc.1_Missense_Mutation_p.S285F NM_000796 NP_000787 P35462 DRD3_HUMAN Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA. 285 G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GGGACTCAGGGAATTCCGAGT 0.527000 97 53 0 0 0.003610 0 0 PCDH10 57575 broad.mit.edu 37 4 134071348 134071348 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:134071348C>T uc003iha.3 + 0 879 c.53C>T c.(52-54)tCc>tTc p.S18F BC040219_uc003igy.3_5'Flank|PCDH10_uc003igz.3_Missense_Mutation_p.S18F NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 18 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GGAGTCTTTTCCCAGCTTCAC 0.498000 61 34 0 0 0.004878 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146829419 146829419 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:146829419G>A uc003weu.2 + 7 1682 c.1166G>A c.(1165-1167)cGg>cAg p.R389Q NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 389 behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.R389Q(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GTGCCCGGACGGCTTAACCAG 0.468000 HNSCC(39;0.1) 39 22 0 0 0.002299 0 0 PRAMEF4 400735 broad.mit.edu 37 1 12943141 12943141 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:12943141C>T uc001aun.2 - 1 146 c.75G>A c.(73-75)ttG>ttA p.L25L NM_001009611 NP_001009611 O60810 PRAM4_HUMAN Homo sapiens PRAME family member 4 (PRAMEF4), mRNA. 25 breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1) 24 Ovarian(185;0.249) Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGGACATGGCCAAAGCTTGGT 0.582000 91 49 0 0 0.003610 0 0 TECTB 6975 broad.mit.edu 37 10 114044382 114044382 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:114044382G>A uc001kzr.1 + 1 166 c.166G>A c.(166-168)Gga>Aga p.G56R NM_058222 NP_478129 Q96PL2 TECTB_HUMAN Homo sapiens tectorin beta (TECTB), mRNA. 56 ZP. anchored to membrane|plasma membrane|proteinaceous extracellular matrix kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.198) Epithelial(162;0.0143)|all cancers(201;0.0242) GCTGGCCCTCGGAGGGCTGTG 0.468000 25 15 0 0 0.003163 0 0 PRCC 5546 broad.mit.edu 37 1 156752097 156752097 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:156752097C>T uc001fqa.3 + 1 782 c.492C>T c.(490-492)ccC>ccT p.P164P NM_005973 NP_005964 Q92733 PRCC_HUMAN Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA. 164 cell cycle|mitotic cell cycle checkpoint nucleus protein binding PRCC/TFE3(25) breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1) 15 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) AAGATGAACCCACAAAGAAGA 0.348000 T TFE3 papillary renal 29 5 0 0 0.001984 0 0 DBX1 120237 broad.mit.edu 37 11 20177857 20177857 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:20177857G>A uc021qez.1 - 3 1052 c.1049C>T c.(1048-1050)tCg>tTg p.S350L DBX1_uc021qey.1_Missense_Mutation_p.S312L NM_001029865 NP_001025036 A6NMT0 DBX1_HUMAN Homo sapiens developing brain homeobox 1 (DBX1), mRNA. 312 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2) 21 GTGCGCGGGCGAGGGGGGCAG 0.701000 11 13 0 0 0.001368 0 0 MASP1 5648 broad.mit.edu 37 3 186940961 186940961 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:186940961C>T uc003frh.2 - 13 2153 c.1763G>A c.(1762-1764)gGc>gAc p.G588D NM_001879 NP_001870 P48740 MASP1_HUMAN Homo sapiens mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) (MASP1), transcript variant 1, mRNA. 588 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) CTTCCCCCAGCCGCTGACGAT 0.537000 41 16 0 0 0.001216 0 0 AKAP6 9472 broad.mit.edu 37 14 33014688 33014688 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:33014688G>A uc001wrq.3 + 3 999 c.829G>A c.(829-831)Gta>Ata p.V277I AKAP6_uc010aml.3_Missense_Mutation_p.V274I NM_004274 NP_004265 Q13023 AKAP6_HUMAN Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA. 277 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) TTTACTTACGGTAGCTGCTGA 0.458000 83 37 0 0 0.001951 0 0 TNFSF14 8740 broad.mit.edu 37 19 6665026 6665026 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:6665026C>T uc002mfk.2 - 4 1016 c.634G>A c.(634-636)Ggg>Agg p.G212R TNFSF14_uc002mfj.2_Missense_Mutation_p.G176R NM_003807 NP_003798 O43557 TNF14_HUMAN Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA. 212 T cell homeostasis|T cell proliferation|cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB cytoplasm|extracellular space|integral to membrane|plasma membrane caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 ACCTTCTCCCCAGCCTCCAGG 0.632000 12 9 0 0 0.004482 0 0 C9orf50 375759 broad.mit.edu 37 9 132377835 132377835 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:132377835G>A uc004byc.4 - 3 1010 c.808C>T c.(808-810)Cct>Tct p.P270S C9orf50_uc022boo.1_Missense_Mutation_p.P269S NM_199350 NP_955382 Q5SZB4 CI050_HUMAN Homo sapiens chromosome 9 open reading frame 50 (C9orf50), mRNA. 270 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) ACCCGGAAAGGGCAACGCTGC 0.662000 42 16 0 0 0.006122 0 0 MLIP 90523 broad.mit.edu 37 6 54066921 54066921 + Missense_Mutation SNP C T T rs138048655 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:54066921C>T uc011dxa.2 + 10 2641 c.2608C>T c.(2608-2610)Cgc>Tgc p.R870C MLIP_uc003pcf.2_Missense_Mutation_p.R859C|MLIP_uc003pcg.4_Missense_Mutation_p.R335C|MLIP_uc003pch.4_Missense_Mutation_p.R179C NM_138569 NP_612636 Q5VWP3 MLIP_HUMAN Homo sapiens muscular LMNA-interacting protein (MLIP), mRNA. 335 PML body|nuclear envelope protein binding p.R335C(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1) 34 TGGAGTAATTCGCCCAGTACC 0.313000 7 24 0 0 0.003954 0 0 PRB2 653247 broad.mit.edu 37 12 11546356 11546356 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:11546356C>T uc010shk.1 - 2 691 c.656G>A c.(655-657)gGa>gAa p.G219E NM_006248 NP_006239 Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA. NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) TTGTGGCTTTCCTGGAGGTGG 0.607000 52 46 0 0 0.003610 0 0 OR2T4 127074 broad.mit.edu 37 1 248525508 248525508 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:248525508T>G uc001ieh.1 + 0 626 c.626T>G c.(625-627)tTc>tGc p.F209C NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 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) ATTCATCATTTCTTCTGTGAA 0.502000 78 41 0 0 0.001951 0 0 MSH4 4438 broad.mit.edu 37 1 76262711 76262711 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:76262711C>T uc001dhd.2 + 0 156 c.41C>T c.(40-42)cCg>cTg p.P14L NM_002440 NP_002431 O15457 MSH4_HUMAN Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA. 14 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 CCTTCTGCCCCGGCGGTTTCC 0.617000 Mismatch excision repair (MMR) 15 13 0 0 0.001855 0 0 RYR3 6263 broad.mit.edu 37 15 33842363 33842363 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:33842363G>A uc001zhi.3 + 9 888 c.818G>A c.(817-819)tGg>tAg p.W273* RYR3_uc010bar.3_Nonsense_Mutation_p.W273* NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 273 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGCCCAGCTGGAGTGGCAGT 0.448000 14 7 0 0 0.006214 0 0 LRRC30 339291 broad.mit.edu 37 18 7231230 7231230 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:7231230G>A uc010wzk.2 + 0 94 c.94G>A c.(94-96)Gat>Aat p.D32N NM_001105581 NP_001099051 A6NM36 LRC30_HUMAN Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA. 32 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TCCGTGGGACGATGCCCTGCT 0.617000 32 20 0 0 0.001523 0 0 PVRL3 25945 broad.mit.edu 37 3 110852746 110852746 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:110852746C>T uc003dxt.2 + 5 1593 c.1334C>T c.(1333-1335)cCa>cTa p.P445L PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA. 445 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 AACTACATTCCACCATCAGAT 0.388000 33 23 0 0 0.002299 0 0 GPR78 27201 broad.mit.edu 37 4 8584315 8584315 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:8584315G>A uc003glk.3 + 1 1219 c.726G>A c.(724-726)aaG>aaA p.K242K GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Non-coding_Transcript NM_080819 NP_543009 Q96P69 GPR78_HUMAN Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA. 242 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.K242N(2) central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 CCACCAGGAAGATTGGCATTG 0.627000 51 22 0 0 0.005443 0 0 IRS4 8471 broad.mit.edu 37 X 107979390 107979390 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:107979390G>A uc004eoc.2 - 0 218 c.185C>T c.(184-186)tCc>tTc p.S62F NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 62 plasma membrane SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 GTCTGACCGGGAGCCAGTGGC 0.652000 4 12 0 0 0.002450 0 0 RNPEPL1 57140 broad.mit.edu 37 2 241517032 241517032 + Missense_Mutation SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:241517032C>A uc002vzi.3 + 10 1901 c.1208C>A c.(1207-1209)aCc>aAc p.T403N RNPEPL1_uc002vzj.3_Missense_Mutation_p.T51N NM_018226 NP_060696 Q9HAU8 RNPL1_HUMAN Homo sapiens arginyl aminopeptidase (aminopeptidase B)-like 1 (RNPEPL1), mRNA. 403 leukotriene biosynthetic process|proteolysis aminopeptidase activity|metallopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 13 all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238) Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322) CGCATGTACACCATCCCGCTG 0.687000 23 7 1.12685e-05 1.40054e-05 0.004482 1 0 NMS 129521 broad.mit.edu 37 2 101086967 101086967 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:101086967C>T uc002tan.1 + 0 24 c.17C>T c.(16-18)cCc>cTc p.P6L NM_001011717 NP_001011717 Q5H8A3 NMS_HUMAN Homo sapiens neuromedin S (NMS), mRNA. 6 P -> S (in dbSNP:rs13411940). neuropeptide signaling pathway|regulation of smooth muscle contraction extracellular region p.R5H(1)|p.P6S(1) breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1) 14 CATCTTCGTCCCCAGTTCCCT 0.547000 74 30 0 0 0.001786 0 0 CHRNA9 55584 broad.mit.edu 37 4 40351209 40351209 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:40351209G>A uc003gva.1 + 3 692 c.676G>A c.(676-678)Gat>Aat p.D226N NM_017581 NP_060051 Q9UGM1 ACHA9_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA. 226 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity p.P225P(1) 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) GCCTTACCCGGATGTCACATT 0.502000 174 101 0 0 0.003610 0 0 KCNH3 23416 broad.mit.edu 37 12 49948157 49948157 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:49948157G>A uc001ruh.1 + 10 2216 c.1956G>A c.(1954-1956)cgG>cgA p.R652R KCNH3_uc010smj.1_Silent_p.R592R NM_012284 NP_036416 Q9ULD8 KCNH3_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA. 652 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity p.R652L(1) NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 TGCCCCGGCGGGAGCAGGTGG 0.637000 80 35 0 0 0.005524 0 0 MGAM 8972 broad.mit.edu 37 7 141762467 141762467 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:141762467C>T uc003vwy.3 + 34 4276 c.4222C>T c.(4222-4224)Cca>Tca p.P1408S NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 1408 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCCACAGAATCCAGAGAGGAG 0.433000 16 10 0 0 0.002450 0 0 RERGL 79785 broad.mit.edu 37 12 18234224 18234224 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:18234224C>T uc001rdq.3 - 5 713 c.519G>A c.(517-519)ctG>ctA p.L173L NM_024730 NP_079006 Q9H628 RERGL_HUMAN Homo sapiens RERG/RAS-like (RERGL), mRNA. 173 Small GTPase-like. signal transduction membrane GTP binding|GTPase activity p.I172T(1) endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 17 TGAAGTTTATCAGGATGTCCT 0.398000 20 16 0 0 0.003163 0 0 SLC17A6 57084 broad.mit.edu 37 11 22396394 22396394 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:22396394C>T uc001mqk.3 + 8 1548 c.1135C>T c.(1135-1137)Ctt>Ttt p.L379F NM_020346 NP_065079 Q9P2U8 VGLU2_HUMAN Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA. 379 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 CAAGCAGATTCTTTCAACTAC 0.383000 44 44 0 0 0.002222 0 0 SYT12 91683 broad.mit.edu 37 11 66813297 66813298 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:66813297_66813298CC>TT uc009yrl.3 + 6 1271_1272 c.1041_1042CC>TT c.(1039-1044)aacccg>aaTTcg p.P348S SYT12_uc001oju.3_Missense_Mutation_p.P348S NM_001177880 NP_808878 Q8IV01 SYT12_HUMAN Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA. 348 C2 2. cell junction|integral to membrane|synaptic vesicle membrane NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1) 20 ATGACCCCAACCCGGTGTTCAA 0.614000 21 18 0 0 0.004672 0 0 PCM1 5108 broad.mit.edu 37 8 17883059 17883059 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:17883059C>T uc022asj.1 + 36 6080 c.6058C>T c.(6058-6060)Cta>Tta p.L2020L PCM1_uc003wyi.4_Silent_p.L1981L|PCM1_uc011kyh.2_Silent_p.L1973L|PCM1_uc003wyj.4_Silent_p.L1817L|PCM1_uc011kyi.2_Silent_p.L780L|PCM1_uc011kyj.2_Silent_p.L737L|PCM1_uc003wyk.4_Silent_p.L663L|PCM1_uc011kyk.2_Silent_p.L597L NM_006197 NP_006188 Q15154 PCM1_HUMAN Homo sapiens pericentriolar material 1 (PCM1), mRNA. 1981 Interaction with BBS4. G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome centriolar satellite|cytosol|nuclear membrane|pericentriolar material identical protein binding PCM1/JAK2(30) breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 48 Colorectal(111;0.0789) AAAGGCAGATCTAAGAAAGAA 0.289000 T """RET, JAK2""" """papillary thyroid, CML, MPD""" 3 5 0 0 0.000602 0 0 OR10Z1 128368 broad.mit.edu 37 1 158577044 158577044 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158577044G>A uc010pio.2 + 0 816 c.816G>A c.(814-816)caG>caA p.Q272Q NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 272 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) AGAGAGATCAGCTTATTGCCA 0.468000 113 73 0 0 0.003610 0 0 RPTOR 57521 broad.mit.edu 37 17 78919516 78919516 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:78919516C>T uc002jyt.1 + 25 3880 c.3075C>T c.(3073-3075)gtC>gtT p.V1025V RPTOR_uc010wug.1_Silent_p.V867V NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 1025 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 ACCCCGGCGTCCCCTCTGTGG 0.562000 13 45 0 0 0.003610 0 0 C12orf51 283450 broad.mit.edu 37 12 112673402 112673402 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:112673402G>A uc021reb.1 - 35 5625 c.5229C>T c.(5227-5229)gtC>gtT p.V1743V NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TTAAGGAGGGGACAGAGTAGC 0.567000 23 15 0 0 0.003163 0 0 DRD3 1814 broad.mit.edu 37 3 113890711 113890711 + Silent SNP G A A rs143953030 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113890711G>A uc003ebd.2 - 2 552 c.129C>T c.(127-129)atC>atT p.I43I DRD3_uc010hqn.1_Silent_p.I43I|DRD3_uc003ebb.1_Silent_p.I43I|DRD3_uc003ebc.1_Silent_p.I43I NM_000796 NP_000787 P35462 DRD3_HUMAN Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA. 43 G-protein coupled receptor internalization|activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) TGCCGAAGACGATGGCCAGGA 0.607000 24 9 0 0 0.004482 0 0 RAPH1 65059 broad.mit.edu 37 2 204304926 204304926 + Missense_Mutation SNP G A A rs147887694 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:204304926G>A uc002vad.3 - 13 3212 c.2987C>T c.(2986-2988)tCg>tTg p.S996L NM_213589 NP_998754 Q70E73 RAPH1_HUMAN Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA. 996 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTGTCCACCGAGGGTCTCTT 0.597000 59 26 0 0 0.007291 0 0 PZP 5858 broad.mit.edu 37 12 9356430 9356430 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:9356430C>T uc001qvl.3 - 1 230 c.201G>A c.(199-201)agG>agA p.R67R PZP_uc009zgl.3_5'UTR NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 TCCTGTTTTCCCTGCCAGACT 0.562000 13 25 0 0 0.005443 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713797 19713797 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:19713797G>A uc004czm.3 - 4 769 c.453C>T c.(451-453)ttC>ttT p.F151F SH3KBP1_uc004czl.3_Silent_p.F114F NM_031892 NP_114098 Q96B97 SH3K1_HUMAN Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA. 151 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 GCTCCTTGATGAAGTTGGAAG 0.498000 14 26 0 0 0.004656 0 0 KIF26B 55083 broad.mit.edu 37 1 245530263 245530263 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:245530263C>T uc001ibf.1 + 2 1033 c.593C>T c.(592-594)gCc>gTc p.A198V KIF26B_uc010pyq.1_Missense_Mutation_p.A198V|KIF26B_uc010pyr.2_5'UTR NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 198 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) AAGCAGGAGGCCATCCAGATG 0.627000 15 7 0 0 0.006214 0 0 TTN 7273 broad.mit.edu 37 2 179582901 179582901 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179582901C>T uc021vsy.1 - 82 21325 c.21100G>A c.(21100-21102)Gga>Aga p.G7034R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G3695R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7961 Ig-like 52. 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) GCAGGTTCTCCAATGACTGCT 0.408000 16 20 0 0 0.001216 0 0 SLC25A11 8402 broad.mit.edu 37 17 4842173 4842173 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:4842173G>A uc002fzo.2 - 2 603 c.346C>T c.(346-348)Ccc>Tcc p.P116S SLC25A11_uc002fzp.2_Missense_Mutation_p.P112S|SLC25A11_uc021tod.1_Missense_Mutation_p.P105S|SLC25A11_uc021toe.1_Missense_Mutation_p.P65S|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank NM_003562 NP_003553 Q02978 M2OM_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 116 gluconeogenesis integral to plasma membrane|mitochondrial inner membrane oxoglutarate:malate antiporter activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5) 10 AAGCCAGGGGGAGTACCATCA 0.607000 8 14 0 0 0.001855 0 0 OMA1 115209 broad.mit.edu 37 1 58946769 58946769 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:58946769C>T uc001cyy.3 - 8 1531 c.1443G>A c.(1441-1443)acG>acA p.T481T DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron NM_145243 NP_660286 Q96E52 OMA1_HUMAN Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA. 481 proteolysis integral to membrane|mitochondrial membrane metal ion binding|metalloendopeptidase activity p.T481T(2) NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1) 18 all_cancers(7;6.54e-05) GAAAATGCTTCGTGCTGAGTT 0.333000 30 25 0 0 0.003954 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44986749 44986749 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:44986749G>A uc003cod.3 - 2 616 c.342C>T c.(340-342)ttC>ttT p.F114F ZDHHC3_uc003cog.3_Silent_p.F114F|ZDHHC3_uc021wws.1_5'UTR NM_016598 NP_057682 Q9NYG2 ZDHC3_HUMAN Homo sapiens zinc finger, DHHC-type containing 3 (ZDHHC3), transcript variant 2, mRNA. 114 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) AACTCTCGATGAATTCTTTAG 0.517000 80 34 0 0 0.006230 0 0 MGP 4256 broad.mit.edu 37 12 15035186 15035186 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:15035186C>T uc021qvr.1 - 4 402 c.274G>A c.(274-276)Gag>Aag p.E92K MGP_uc001rcn.2_Missense_Mutation_p.E67K NM_001190839 NP_001177768 P08493 MGP_HUMAN Homo sapiens matrix Gla protein (MGP), transcript variant 1, mRNA. 67 Gla. cartilage condensation|cell differentiation|ossification|regulation of bone mineralization proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent|structural constituent of bone p.A91V(1)|p.E67K(1) large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 7 CTATTGAGCTCGTGGACAGGC 0.448000 70 94 0 0 0.003610 0 0 C4B 721 broad.mit.edu 37 6 31995183 31995183 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:31995183C>T uc011dpd.2 + 20 2814 c.2763C>T c.(2761-2763)ttC>ttT p.F921F C4B_uc011dpe.2_Silent_p.F921F NM_001242823 NP_001229752 P0C0L5 CO4B_HUMAN Homo sapiens complement C4-B-like (LOC100293534), mRNA. 921 complement activation, classical pathway|inflammatory response|innate immune response extracellular space endopeptidase inhibitor activity CCTTCGAATTCCCTGTGGGAG 0.622000 5 10 0 0 0.003163 0 0 VASP 7408 broad.mit.edu 37 19 46027396 46027396 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:46027396C>T uc002pcg.3 + 9 1294 c.952C>T c.(952-954)Cca>Tca p.P318S VASP_uc002pci.3_Missense_Mutation_p.P304S NM_003370 NP_003361 P50552 VASP_HUMAN Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA. 318 EVH2. T cell receptor signaling pathway|axon guidance|cell junction assembly actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane SH3 domain binding|actin binding|profilin binding endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2) 18 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154) CACAACCTTGCCAAGGTAGGC 0.577000 OREG0025556 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 10 0 0 0.001368 0 0 TET1 80312 broad.mit.edu 37 10 70450796 70450796 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70450796C>T uc001jok.4 + 11 6141 c.5636C>T c.(5635-5637)cCc>cTc p.P1879L NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1879 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 AGCAGCACTCCCCACTGTACG 0.582000 23 21 0 0 0.001882 0 0 EPHB4 2050 broad.mit.edu 37 7 100416162 100416162 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100416162C>T uc003uwn.1 - 6 1893 c.1402G>A c.(1402-1404)Gag>Aag p.E468K EPHB4_uc003uwm.1_Missense_Mutation_p.E375K|EPHB4_uc010lhj.1_Missense_Mutation_p.E468K|EPHB4_uc011kkf.1_Missense_Mutation_p.E468K|EPHB4_uc011kkg.1_Intron|EPHB4_uc011kkh.1_3'UTR NM_004444 NP_004435 P54760 EPHB4_HUMAN Homo sapiens EPH receptor B4 (EPHB4), mRNA. 468 Fibronectin type-III 2. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) TATTTGACCTCGTAGTCCAGC 0.642000 15 5 0 0 0.001168 0 0 ANAPC4 29945 broad.mit.edu 37 4 25398357 25398357 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:25398357C>T uc003gro.3 + 14 1262 c.1133C>T c.(1132-1134)cCt>cTt p.P378L ANAPC4_uc003grp.3_Missense_Mutation_p.P263L|ANAPC4_uc010ieu.1_Missense_Mutation_p.P147L|ANAPC4_uc010iet.1_Missense_Mutation_p.P158L NM_013367 NP_037499 Q9UJX5 APC4_HUMAN Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA. 378 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|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 anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) AAATATGAACCTCTTGGACTA 0.333000 34 14 0 0 0.001855 0 0 SCN10A 6336 broad.mit.edu 37 3 38743502 38743502 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:38743502C>T uc003ciq.3 - 25 4485 c.4485G>A c.(4483-4485)gtG>gtA p.V1495V NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA. 1495 sensory perception voltage-gated sodium channel complex p.V1495V(2) NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CATCAGTCTCCACCATCATGG 0.448000 33 18 0 0 0.001216 0 0 ZBED4 9889 broad.mit.edu 37 22 50278162 50278162 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50278162C>T uc003bix.2 + 1 1322 c.852C>T c.(850-852)tcC>tcT p.S284S ZBED4_uc021wrx.1_Silent_p.S284S NM_014838 NP_055653 O75132 ZBED4_HUMAN Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA. 284 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity p.G283R(1) breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) CCTCTGGGTCCAGGAGAAGGT 0.562000 50 18 0 0 0.007413 0 0 DUSP22 56940 broad.mit.edu 37 6 350831 350831 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:350831G>A uc003msx.3 + 7 957 c.518G>A c.(517-519)gGa>gAa p.G173E DUSP22_uc003msy.1_3'UTR NM_020185 NP_064570 Q9NRW4 DUS22_HUMAN Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA. 173 apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.P172Q(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2) 26 all_hematologic(77;0.228) Breast(5;0.0249)|all_hematologic(90;0.0489) OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669) GCCGCTCCGGGAATTCTGAAG 0.403000 115 31 0 0 0.003271 0 0 KIAA1009 22832 broad.mit.edu 37 6 84859352 84859352 + Missense_Mutation SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:84859352G>T uc010kbp.3 - 23 3797 c.3700C>A c.(3700-3702)Ctt>Att p.L1234I KIAA1009_uc003pkj.4_Missense_Mutation_p.L1158I|KIAA1009_uc003pki.4_Missense_Mutation_p.L620I NM_014895 NP_055710 Q5TB80 QN1_HUMAN Homo sapiens KIAA1009 (KIAA1009), mRNA. 1234 cell division|mitosis centrosome|nucleus|plasma membrane|spindle protein binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258) BRCA - Breast invasive adenocarcinoma(397;0.089) TTTTGGCAAAGGAGTTTCTCT 0.373000 14 29 5.77227e-19 7.2674e-19 0.001512 1 0 OR1F1 4992 broad.mit.edu 37 16 3254873 3254873 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:3254873C>T uc010uwu.2 + 0 627 c.627C>T c.(625-627)acC>acT p.T209T NM_012360 NP_036492 O43749 OR1F1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TCATGATCACCCCATTTCTTT 0.502000 42 25 0 0 0.004656 0 0 VPS18 57617 broad.mit.edu 37 15 41192210 41192210 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:41192210C>T uc001zne.3 + 3 1533 c.1194C>T c.(1192-1194)gtC>gtT p.V398V NM_020857 NP_065908 Q9P253 VPS18_HUMAN Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA. 398 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) CCCGAGATGTCTGGCGCACCT 0.627000 61 19 0 0 0.002780 0 0 PIBF1 10464 broad.mit.edu 37 13 73409470 73409470 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:73409470G>C uc001vjc.3 + 8 1492 c.1187G>C c.(1186-1188)cGa>cCa p.R396P PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.R396P|PIBF1_uc010aep.3_5'UTR NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA. 396 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) GATCAACTTCGAAATGCCTCT 0.303000 49 28 0 0 0.006320 0 0 KIAA1549 57670 broad.mit.edu 37 7 138545892 138545892 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:138545892G>A uc011kql.2 - 15 5289 c.5240C>T c.(5239-5241)cCc>cTc p.P1747L KIAA1549_uc011kqi.2_Missense_Mutation_p.P531L|KIAA1549_uc011kqk.2_Missense_Mutation_p.P531L|KIAA1549_uc011kqj.2_Missense_Mutation_p.P1747L NM_001164665 NP_001158137 Q9HCM3 K1549_HUMAN Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA. 1747 integral to membrane KIAA1549/BRAF(703) large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2) 7 TACACTGCAGGGATTGTTGGC 0.587000 O BRAF pilocytic astrocytoma 43 16 0 0 0.007413 0 0 PCSK5 5125 broad.mit.edu 37 9 78842419 78842419 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:78842419G>A uc004akc.2 + 21 3165 c.2627_splice c.e21-1 p.G876_splice NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 876 PLAC. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TGTTCCCCAGGAGAATATGTT 0.527000 10 3 0 0 0.004672 0 0 SNCA 6622 broad.mit.edu 37 4 90647782 90647783 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:90647782_90647783GG>AA uc003hsq.3 - 5 678_679 c.419_420CC>TT c.(418-420)gcc>gTT p.A140V SNCA_uc010ikt.3_Missense_Mutation_p.A126V|SNCA_uc003hso.3_Missense_Mutation_p.A112V|SNCA_uc003hsp.3_Missense_Mutation_p.A140V|SNCA_uc003hsr.3_Missense_Mutation_p.A140V NM_001146054 NP_001139527 P37840 SYUA_HUMAN Homo sapiens synuclein, alpha (non A4 component of amyloid precursor) (SNCA), transcript variant 2, mRNA. 140 activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse Hsp70 protein binding|alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|ovary(1) 8 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;7.42e-05) Melatonin(DB01065) ATATTTCTTAGGCTTCAGGTTC 0.401000 41 15 0 0 0.004672 0 0 SCN7A 6332 broad.mit.edu 37 2 167328867 167328867 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:167328867C>T uc002udu.2 - 4 662 c.532G>A c.(532-534)Gat>Aat p.D178N SCN7A_uc010fpm.2_Non-coding_Transcript NM_002976 NP_002967 Q01118 SCN7A_HUMAN Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA. 178 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity p.D178V(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 TTCCATGGATCACCGAGGAAG 0.353000 12 8 0 0 0.003080 0 0 CSMD3 114788 broad.mit.edu 37 8 113358332 113358332 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:113358332C>T uc003ynu.3 - 40 6595 c.6436G>A c.(6436-6438)Ggt>Agt p.G2146S CSMD3_uc003yns.3_Missense_Mutation_p.G1348S|CSMD3_uc003ynt.3_Missense_Mutation_p.G2106S|CSMD3_uc011lhx.2_Missense_Mutation_p.G2042S NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 2146 CUB 12. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 ATACCAAAACCTATGGGTAGA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 44 0 0 0.003610 0 0 MGAM 8972 broad.mit.edu 37 7 141750661 141750661 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:141750661G>A uc003vwy.3 + 23 2856 c.2802G>A c.(2800-2802)ctG>ctA p.L934L NM_004668 NP_004659 O43451 MGA_HUMAN Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA. 934 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ATTCTAACCTGAAGGTAAAAA 0.428000 41 20 0 0 0.001882 0 0 TMC4 147798 broad.mit.edu 37 19 54675684 54675684 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:54675684G>A uc010erf.3 - 1 398 c.266C>T c.(265-267)cCt>cTt p.P89L TMC4_uc002qdo.3_Missense_Mutation_p.P83L NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA. 89 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TTCCCGGGAAGGGTGAGGGTC 0.677000 42 15 0 0 0.006122 0 0 LZTR1 8216 broad.mit.edu 37 22 21332232 21332233 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:21332232_21332233CC>TT uc002ztj.2 + 15 1633_1634 c.1415_1416CC>TT c.(1414-1416)ccc>cTT p.P472L LZTR1_uc002ztk.2_Missense_Mutation_p.P472L|LZTR1_uc002ztl.2_Missense_Mutation_p.P478L|LZTR1_uc011ahx.1_Missense_Mutation_p.P460L|LZTR1_uc002ztn.3_5'Flank NM_144704 NP_653305 Q8N653 LZTR1_HUMAN Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 BTB 1. anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GTCACCTTCCCCCTTGCCTGGA 0.594000 14 9 0 0 0.004672 0 0 RTN2 6253 broad.mit.edu 37 19 45996558 45996558 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:45996558G>A uc002pcb.3 - 4 1123 c.893C>T c.(892-894)cCt>cTt p.P298L RTN2_uc002pcc.3_Intron|RTN2_uc002pcd.3_Intron NM_005619 NP_005610 O75298 RTN2_HUMAN Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA. 298 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) TGTCCACAGAGGTGGGGACAA 0.522000 33 23 0 0 0.002299 0 0 CACNA1C 775 broad.mit.edu 37 12 2224674 2224674 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:2224674C>T uc009zdu.1 + 1 647 c.334C>T c.(334-336)Ccc>Tcc p.P112S CACNA1C_uc001qkc.2_Missense_Mutation_p.P112S|CACNA1C_uc001qjz.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkd.2_Missense_Mutation_p.P112S|CACNA1C_uc001qke.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkf.2_Missense_Mutation_p.P112S|CACNA1C_uc009zdw.1_Missense_Mutation_p.P112S|CACNA1C_uc001qkg.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkh.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkl.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkj.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkk.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkn.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkm.2_Missense_Mutation_p.P112S|CACNA1C_uc001qko.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkp.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkq.2_Missense_Mutation_p.P112S|CACNA1C_uc001qku.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkr.2_Missense_Mutation_p.P112S|CACNA1C_uc001qks.2_Missense_Mutation_p.P112S|CACNA1C_uc001qkt.2_Missense_Mutation_p.P112S|CACNA1C_uc009zdv.1_Missense_Mutation_p.P112S|CACNA1C_uc001qkb.2_Missense_Mutation_p.P112S NM_199460 NP_955630 Q13936 CAC1C_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA. 112 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CCTGAAGAACCCCATCCGGAG 0.637000 31 8 0 0 0.006214 0 0 COL22A1 169044 broad.mit.edu 37 8 139715590 139715590 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:139715590C>T uc003yvd.3 - 31 2965 c.2518_splice c.e31-1 p.G840_splice COL22A1_uc011ljo.2_Splice_Site_p.G140_splice NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 840 Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCAGCTTCACCCTAGATGGAG 0.458000 HNSCC(7;0.00092) 46 14 0 0 0.003163 0 0 EPHA7 2045 broad.mit.edu 37 6 93964457 93964457 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:93964457T>G uc003poe.3 - 13 2681 c.2440A>C c.(2440-2442)Aca>Cca p.T814P EPHA7_uc003pof.3_Missense_Mutation_p.T809P|EPHA7_uc011eac.2_Missense_Mutation_p.T810P NM_004440 NP_004431 Q15375 EPHA7_HUMAN Homo sapiens EPH receptor A7 (EPHA7), mRNA. 814 Protein kinase. integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1) 112 all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142) BRCA - Breast invasive adenocarcinoma(108;0.0847) CTGGCTGATGTGAATTTCCGG 0.383000 13 13 0 0 0.001368 0 0 SYDE2 84144 broad.mit.edu 37 1 85624759 85624759 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:85624759G>C uc009wcm.3 - 6 3308 c.3259C>G c.(3259-3261)Cgt>Ggt p.R1087G NM_032184 NP_115560 Q5VT97 SYDE2_HUMAN Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA. 1087 activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1) 20 all cancers(265;0.0126)|Epithelial(280;0.0336) CCTGCATAACGATTGCTAAGT 0.388000 89 50 0 0 0.003610 0 0 C12orf50 160419 broad.mit.edu 37 12 88390262 88390262 + Missense_Mutation SNP C T T rs146964348 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:88390262C>T uc001tam.1 - 5 538 c.370G>A c.(370-372)Gaa>Aaa p.E124K C12orf50_uc001tan.3_Missense_Mutation_p.E178K NM_152589 NP_689802 Q8NA57 CL050_HUMAN Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA. 124 NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2) 34 CTGTAGTATTCCCCTAATCAA 0.313000 19 16 0 0 0.004007 0 0 GPER 2852 broad.mit.edu 37 7 1131498 1131498 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:1131498G>A uc010ksd.1 + 1 523 c.134G>A c.(133-135)gGg>gAg p.G45E C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPER_uc003sjz.1_Missense_Mutation_p.G45E|GPER_uc003ska.1_Missense_Mutation_p.G45E|GPER_uc003skb.2_Missense_Mutation_p.G45E|GPER_uc021zyo.1_Missense_Mutation_p.G45E NM_001098201 NP_001091671 Q99527 GPER_HUMAN Homo sapiens G protein-coupled estrogen receptor 1 (GPER), transcript variant 4, mRNA. 45 Missing (in Ref. 7; AAB02736). Golgi membrane|endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 13 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16) CTGGCCAATGGGACAGGTGAG 0.647000 15 8 0 0 0.004482 0 0 FHDC1 85462 broad.mit.edu 37 4 153896077 153896077 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:153896077C>T uc003inf.2 + 10 1709 c.1634C>T c.(1633-1635)cCc>cTc p.P545L NM_033393 NP_203751 Q9C0D6 FHDC1_HUMAN Homo sapiens FH2 domain containing 1 (FHDC1), mRNA. 545 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) TCCCTGGGTCCCTCTGCTGAC 0.706000 13 5 0 0 0.001168 0 0 MLL 4297 broad.mit.edu 37 11 118373665 118373665 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:118373665C>T uc001pta.3 + 26 7072 c.7049C>T c.(7048-7050)tCc>tTc p.S2350F MLL_uc001ptb.3_Missense_Mutation_p.S2353F NM_005933 NP_005924 Q03164 MLL1_HUMAN Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA. 2350 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding p.S2350S(1) breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19) 131 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) AAAATCGGCTCCTTTGCTGAA 0.468000 """T, O""" """MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB""" """AML, ALL""" 19 22 0 0 0.005443 0 0 EIF4B 1975 broad.mit.edu 37 12 53427604 53427604 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:53427604C>T uc001sbh.4 + 8 1200 c.994C>T c.(994-996)Ccc>Tcc p.P332S EIF4B_uc010snu.2_Missense_Mutation_p.P332S|EIF4B_uc010snv.2_Missense_Mutation_p.P293S NM_001417 NP_001408 P23588 IF4B_HUMAN Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA. 332 insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CCCCCAAAGACCCAAACTGAA 0.438000 36 17 0 0 0.001523 0 0 BAI3 577 broad.mit.edu 37 6 69944926 69944926 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:69944926C>T uc010kak.3 + 17 2886 c.2610C>T c.(2608-2610)atC>atT p.I870I BAI3_uc003pev.4_Silent_p.I870I|BAI3_uc011dxx.2_Silent_p.I76I NM_001704 NP_001695 O60242 BAI3_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA. 870 negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.I869T(1) NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ATTCACAGATCATGGAATCCT 0.363000 34 34 0 0 0.002445 0 0 GTF3C5 9328 broad.mit.edu 37 9 135919197 135919197 + Silent SNP C T T rs151291681 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:135919197C>T uc004ccj.4 + 2 793 c.456C>T c.(454-456)ctC>ctT p.L152L GTF3C5_uc010mzz.2_Silent_p.L27L|GTF3C5_uc004cci.4_Silent_p.L152L NM_001122823 NP_001116295 Q9Y5Q8 TF3C5_HUMAN Homo sapiens general transcription factor IIIC, polypeptide 5, 63kDa (GTF3C5), transcript variant 1, mRNA. 152 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) TGCTCATGCTCCGGCCCGAGA 0.587000 43 18 0 0 0.001216 0 0 PRNP 5621 broad.mit.edu 37 20 4680141 4680141 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:4680141G>A uc021wae.1 + 0 275 c.275G>A c.(274-276)gGa>gAa p.G92E PRNP_uc002wkt.1_Intron|PRNP_uc002wku.3_Missense_Mutation_p.G92E|PRNP_uc002wkv.3_Missense_Mutation_p.G92E|PRNP_uc002wkw.3_Missense_Mutation_p.G92E|PRNP_uc002wkx.3_Missense_Mutation_p.G92E|PRNP_uc002wky.3_Missense_Mutation_p.G92E|PRNP_uc010gbe.1_Missense_Mutation_p.G92E NM_183079 NP_898902 P04156 PRIO_HUMAN Homo sapiens prion protein (PRNP), transcript variant 2, mRNA. 92 Interaction with GRB2, ERI3 and SYN1 (By similarity). axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of T cell receptor signaling pathway|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|protein homooligomerization|response to oxidative stress Golgi apparatus|anchored to membrane|endoplasmic reticulum|extrinsic to membrane|membrane raft|nucleus|plasma membrane copper ion binding|identical protein binding|microtubule binding central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 14 Tetracycline(DB00759) TGGGGTCAAGGAGGTGGCACC 0.642000 18 13 0 0 0.001368 0 0 NBEA 26960 broad.mit.edu 37 13 36125086 36125086 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:36125086C>T uc021rid.1 + 42 7257 c.6723C>T c.(6721-6723)ttC>ttT p.F2241F NBEA_uc021ric.1_Silent_p.F2238F|NBEA_uc010abi.3_Silent_p.F897F|NBEA_uc010tee.1_Silent_p.F34F|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Silent_p.F34F|NBEA_uc010teg.1_Silent_p.F34F NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2241 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) TGTTTAATTTCCCTGATCAAG 0.388000 22 6 0 0 0.001984 0 0 CYP17A1 1586 broad.mit.edu 37 10 104597026 104597026 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104597026G>A uc001kwg.3 - 0 265 c.93C>T c.(91-93)ctC>ctT p.L31L NM_000102 NP_000093 P05093 CP17A_HUMAN Homo sapiens cytochrome P450, family 17, subfamily A, polypeptide 1 (CYP17A1), mRNA. 31 androgen biosynthetic process|glucocorticoid biosynthetic process|sex differentiation|xenobiotic metabolic process endoplasmic reticulum membrane electron carrier activity|heme binding|oxygen binding|steroid 17-alpha-monooxygenase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) NADH(DB00157)|Progesterone(DB00396) GCAGGGACAGGAGGCTCTTGG 0.547000 58 21 0 0 0.002299 0 0 DLGAP1 9229 broad.mit.edu 37 18 3729134 3729134 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:3729134C>T uc002kmf.3 - 7 2118 c.1591_splice c.e7+1 p.V531_splice DLGAP1_uc010wyz.2_Splice_Site_p.V531_splice|DLGAP1_uc010dkn.3_Splice_Site_p.G229_splice|DLGAP1_uc002kme.2_Splice_Site_p.V229_splice|DLGAP1_uc010wyw.2_Splice_Site_p.V237_splice|DLGAP1_uc010wyx.2_Splice_Site_p.G243_splice|DLGAP1_uc010wyy.2_Splice_Site_p.A243_splice|DLGAP1_uc002kmg.3_Splice_Site_p.V229_splice|DLGAP1_uc002kmk.2_Splice_Site_p.G531_splice NM_004746 NP_004737 O14490 DLGP1_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA. 531 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.?(2) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CGCGCACTCACCCGTGCTGCT 0.637000 11 8 0 0 0.006214 0 0 PSMB8 5696 broad.mit.edu 37 6 32810460 32810461 + Missense_Mutation DNP GG TA TA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:32810460_32810461GG>TA uc003oce.3 - 2 438_439 c.395_396CC>TA c.(394-396)gcc>gTA p.A132V PSMB8_uc003ocf.3_Missense_Mutation_p.A128V|PSMB8_uc011dqh.2_3'UTR|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank NM_148919 NP_683720 P28062 PSB8_HUMAN Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA. 132 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|interspecies interaction between organisms|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|type I interferon-mediated signaling pathway|viral reproduction cytoplasm|nucleus|proteasome core complex protein binding|threonine-type endopeptidase activity NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 11 TGCATTCCTTGGCCAGCAGGCG 0.520000 7 10 0 0 0.004672 0 0 RSL1D1 26156 broad.mit.edu 37 16 11931870 11931870 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:11931870G>A uc002dbp.1 - 8 1320 c.1247C>T c.(1246-1248)cCa>cTa p.P416L RSL1D1_uc010buv.1_Missense_Mutation_p.P415L|RSL1D1_uc010uyw.1_Missense_Mutation_p.P196L NM_015659 NP_056474 O76021 RL1D1_HUMAN Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA. 416 regulation of protein localization|translation large ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2) 15 tgcagcttttggggtctcaga 0.473000 176 95 0 0 0.003610 0 0 HTR5A 3361 broad.mit.edu 37 7 154876129 154876129 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:154876129C>T uc003wlu.1 + 1 1070 c.1006C>T c.(1006-1008)Ctg>Ttg p.L336L NM_024012 NP_076917 P47898 5HT5A_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA. 336 integral to plasma membrane serotonin receptor activity NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1) 48 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.0238) UCEC - Uterine corpus endometrioid carcinoma (81;0.171) CTTTAACCCCCTGATCTATAC 0.488000 72 32 0 0 0.003755 0 0 ME1 4199 broad.mit.edu 37 6 84025120 84025120 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:84025120C>T uc003pjy.3 - 5 878 c.613G>A c.(613-615)Gat>Aat p.D205N ME1_uc011dzb.2_Missense_Mutation_p.D130N|ME1_uc011dzc.2_Missense_Mutation_p.D39N NM_002395 NP_002386 P48163 MAOX_HUMAN Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA. 205 NADP biosynthetic process|carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|response to carbohydrate stimulus|response to hormone stimulus cytosol ADP binding|NAD binding|NADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218) BRCA - Breast invasive adenocarcinoma(397;0.0641) NADH(DB00157) TAGAGTGGATCTTTAAGTAAC 0.333000 14 23 0 0 0.003330 0 0 NCAM2 4685 broad.mit.edu 37 21 22881216 22881216 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:22881216G>A uc002yld.2 + 15 2371 c.2122G>A c.(2122-2124)Gga>Aga p.G708R NCAM2_uc011acb.2_Missense_Mutation_p.G566R NM_004540 NP_004531 O15394 NCAM2_HUMAN Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA. 708 neuron cell-cell adhesion integral to membrane|plasma membrane breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 108 Lung NSC(9;0.195) all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174) AATTGGCCTGGGAGTTGCTGC 0.378000 20 18 0 0 0.007413 0 0 NAA11 84779 broad.mit.edu 37 4 80246948 80246948 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:80246948C>T uc003hlt.4 - 0 224 c.84G>A c.(82-84)atG>atA p.M28I NAA11_uc021xpl.1_Missense_Mutation_p.M28I NM_032693 NP_116082 Q9BSU3 NAA11_HUMAN Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA. 28 Interaction with NAA15 (By similarity).|N-acetyltransferase. cytoplasm|nucleus peptide alpha-N-acetyltransferase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2) 23 AATAGTATTTCATCTGGTAGT 0.493000 31 19 0 0 0.001523 0 0 CTCF 10664 broad.mit.edu 37 16 67650756 67650756 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67650756C>T uc002etl.3 + 4 1505 c.1061C>T c.(1060-1062)tCc>tTc p.S354F CTCF_uc010cek.3_Missense_Mutation_p.S26F NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 354 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.S354F(2) breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TTCAAGTGTTCCATGTGCGAT 0.453000 106 57 0 0 0.003610 0 0 TCR-alpha 0 broad.mit.edu 37 14 22337432 22337432 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:22337432G>A uc021rpg.1 + 1 286 c.223G>A c.(223-225)Gaa>Aaa p.E75K TRA_uc021rpa.1_Intron|TCRA_uc001wbw.2_Intron|TCRA_uc021rpe.1_Intron Homo sapiens mRNA for T cell receptor alpha variable 13, partial cds, clone: SEB 85. AAATGTGGGCGAAAAGAAAGA 0.428000 97 65 0 0 0.003610 0 0 EPHA3 2042 broad.mit.edu 37 3 89480431 89480431 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:89480431T>C uc003dqy.3 + 12 2493 c.2268T>C c.(2266-2268)agT>agC p.S756S EPHA3_uc021xbf.1_Silent_p.S756S NM_005233 NP_005224 P29320 EPHA3_HUMAN Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA. 756 Protein kinase. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) TGATCAACAGTAACTTGGTGT 0.478000 TSP Lung(6;0.00050) 22 13 0 0 0.004007 0 0 JAK1 3716 broad.mit.edu 37 1 65301108 65301109 + Silent DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:65301108_65301109GG>AA uc001dbu.1 - 23 3588_3589 c.3339_3340CC>TT c.(3337-3342)cgcctg>cgTTtg p.1113_1114RL>RL JAK1_uc009wam.1_Silent_p.1113_1114RL>RL|JAK1_uc009wal.1_Silent_p.290_291RL>RL NM_002227 NP_002218 P23458 JAK1_HUMAN Homo sapiens Janus kinase 1 (JAK1), mRNA. 1113 Protein kinase 2. interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) GGGCACGGCAGGCGTTTTCCTT 0.421000 Mis ALL 67 19 0 0 0.004672 0 0 NCOA5 57727 broad.mit.edu 37 20 44692186 44692186 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:44692186G>A uc002xrd.3 - 5 1491 c.963C>T c.(961-963)atC>atT p.I321I NCOA5_uc002xrc.3_Silent_p.I209I|NCOA5_uc002xre.3_Silent_p.I321I NM_020967 NP_066018 Q9HCD5 NCOA5_HUMAN Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA. 321 regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus ATP binding|aminoacyl-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) TTTCCTGCAGGATGGCTTCAT 0.582000 26 17 0 0 0.004990 0 0 FAM57B 83723 broad.mit.edu 37 16 30040777 30040777 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30040777G>A uc002dvt.3 - 1 523 c.185C>T c.(184-186)tCc>tTc p.S62F BOLA2_uc010bzb.1_Intron NM_031478 NP_113666 Q71RH2 FA57B_HUMAN Homo sapiens family with sequence similarity 57, member B (FAM57B), mRNA. 62 TLC. endoplasmic reticulum|integral to membrane central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1) 14 GTGCTTGCAGGAGGTGGAGAC 0.607000 11 9 0 0 0.006214 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953375 8953375 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8953375G>A uc002mko.2 + 0 107 c.21G>A c.(19-21)agG>agA p.R7R NM_145208 NP_660209 Q8WWY6 MB3L1_HUMAN Homo sapiens methyl-CpG binding domain protein 3-like 1 (MBD3L1), mRNA. 7 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 GTTCACAGAGGAAGCAACGTG 0.423000 16 6 0 0 0.004482 0 0 IQCH 64799 broad.mit.edu 37 15 67664852 67664852 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:67664852G>A uc002aqo.2 + 8 1254 c.1157G>A c.(1156-1158)aGa>aAa p.R386K IQCH_uc010ujv.2_Missense_Mutation_p.R205K|IQCH_uc002aqn.2_Missense_Mutation_p.R213K|IQCH_uc002aqp.2_Missense_Mutation_p.R138K|IQCH_uc002aqq.2_Missense_Mutation_p.R134K NM_001031715 NP_001026885 Q86VS3 IQCH_HUMAN Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA. 386 IQ. NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TACAAAGCAAGAAAATTCTTC 0.443000 48 23 0 0 0.002780 0 0 FAM5C 339479 broad.mit.edu 37 1 190067482 190067482 + Missense_Mutation SNP C T T rs149389696 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:190067482C>T uc001gse.1 - 7 2199 c.1967G>A c.(1966-1968)cGg>cAg p.R656Q FAM5C_uc010pot.1_Missense_Mutation_p.R554Q NM_199051 NP_950252 Q76B58 FAM5C_HUMAN Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA. 656 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GCCCAGGTTCCGGGAAGGGTC 0.448000 55 30 0 0 0.001786 0 0 VPS39 23339 broad.mit.edu 37 15 42458375 42458375 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:42458375G>A uc001zpd.3 - 16 1846 c.1695C>T c.(1693-1695)ttC>ttT p.F565F VPS39_uc001zpc.3_Silent_p.F554F|VPS39_uc001zpb.3_5'UTR NM_015289 NP_056104 Q96JC1 VPS39_HUMAN Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA. 565 protein transport HOPS complex|late endosome membrane|lysosomal membrane small GTPase regulator activity breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;3.05e-06) CATCTTCTGGGAAGTCTCTCA 0.498000 38 22 0 0 0.003954 0 0 DMBT1 1755 broad.mit.edu 37 10 124377706 124377706 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:124377706G>A uc001lgk.1 + 37 4784 c.4678G>A c.(4678-4680)Gga>Aga p.G1560R DMBT1_uc001lgl.1_Missense_Mutation_p.G1550R|DMBT1_uc001lgm.1_Missense_Mutation_p.G932R|DMBT1_uc021qaf.1_Missense_Mutation_p.G1560R|DMBT1_uc021qag.1_Missense_Mutation_p.G1550R|DMBT1_uc021qah.1_Missense_Mutation_p.G932R|DMBT1_uc009xzz.1_Missense_Mutation_p.G1560R|DMBT1_uc010qtx.1_Missense_Mutation_p.G411R|DMBT1_uc009yab.1_Missense_Mutation_p.G263R|DMBT1_uc009yac.1_5'Flank NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA. 1560 SRCR 12. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) GTCAGCCCCAGGAAATGCCCA 0.612000 118 65 0 0 0.003610 0 0 GAD1 2571 broad.mit.edu 37 2 171678638 171678638 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:171678638A>G uc002ugi.3 + 2 546 c.124A>G c.(124-126)Aaa>Gaa p.K42E GAD1_uc002ugh.3_Missense_Mutation_p.K42E NM_000817 NP_000808 Q99259 DCE1_HUMAN Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA. 42 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) ATGCACCAGAAAACTGGGGCT 0.647000 7 6 0 0 0.003080 0 0 ZNF518A 9849 broad.mit.edu 37 10 97916114 97916114 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:97916114A>G uc001klp.3 + 5 892 c.35A>G c.(34-36)gAa>gGa p.E12G ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.E12G|ZNF518A_uc001klr.3_Missense_Mutation_p.E12G NM_014803 NP_055618 Q6AHZ1 Z518A_HUMAN Homo sapiens zinc finger protein 518A (ZNF518A), mRNA. 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 24 Colorectal(252;0.0815) Epithelial(162;4.23e-08)|all cancers(201;1.85e-06) TTTTGTGATGAAAAACAAACT 0.289000 38 17 0 0 0.006122 0 0 MUC16 94025 broad.mit.edu 37 19 9048354 9048354 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9048354C>T uc002mkp.3 - 4 33481 c.33277G>A c.(33277-33279)Ggg>Agg p.G11093R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 11095 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 CCTGATACCCCAGGTGAAACA 0.502000 25 13 0 0 0.001368 0 0 ACSM2B 348158 broad.mit.edu 37 16 20548594 20548594 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:20548594C>T uc002dhj.4 - 14 1930 c.1720G>A c.(1720-1722)Gcc>Acc p.A574T ACSM2B_uc002dhk.4_Missense_Mutation_p.A574T NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 574 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|CoA-ligase activity|butyrate-CoA ligase activity|metal ion binding breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 TGCGCACGGGCTTTTCCGGAC 0.463000 134 64 0 0 0.003610 0 0 BCL2A1 597 broad.mit.edu 37 15 80263401 80263402 + Missense_Mutation DNP GG TA TA rs147300718 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:80263401_80263402GG>TA uc002bfc.4 - 0 242_243 c.60_61CC>TA c.(58-63)gtccta>gtTAta p.L21I BCL2A1_uc002bfd.4_Missense_Mutation_p.L21I NM_004049 NP_004040 Q16548 B2LA1_HUMAN Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA. 21 anti-apoptosis|apoptosis cytoplasm protein binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1) 12 GGTATCTGTAGGACGCACTGCA 0.465000 38 7 0 0 0.004672 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43822444 43822444 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:43822444C>T uc010skx.2 - 24 3648 c.3648G>A c.(3646-3648)tgG>tgA p.W1216* ADAMTS20_uc001rno.1_Nonsense_Mutation_p.W334*|ADAMTS20_uc001rnp.1_Nonsense_Mutation_p.W370* NM_025003 NP_079279 P59510 ATS20_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA. 1216 TSP type-1 8. proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TTACGGGTGACCAATCCCCTG 0.333000 10 7 0 0 0.001984 0 0 ACOXL 55289 broad.mit.edu 37 2 111556243 111556243 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:111556243C>T uc010yxk.1 + 5 626 c.402C>T c.(400-402)gcC>gcT p.A134A ACOXL_uc021vmm.1_5'Flank|ACOXL_uc021vmn.1_5'Flank NM_001142807 NP_001136279 Q9NUZ1 ACOXL_HUMAN Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA. 134 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1) 21 TTGGAAATGCCATGTACGGGA 0.413000 38 22 0 0 0.002780 0 0 KIF2B 84643 broad.mit.edu 37 17 51901259 51901259 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:51901259G>A uc002iua.2 + 0 1021 c.865G>A c.(865-867)Gag>Aag p.E289K KIF2B_uc010wna.1_Non-coding_Transcript NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN Homo sapiens kinesin family member 2B (KIF2B), mRNA. 289 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 GCCACTGGTGGAGTCCATCTT 0.577000 22 26 0 0 0.004656 0 0 DQ586822 0 broad.mit.edu 37 15 84945439 84945439 + RNA SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:84945439C>T uc002bke.2 - 0 c.1811G>A Homo sapiens cDNA FLJ34196 fis, clone FCBBF3019437. TAGCAGTGGCCCTGGATTCAA 0.502000 23 11 0 0 0.000978 0 0 DAOA 267012 broad.mit.edu 37 13 106124916 106124916 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:106124916G>A uc001vqb.3 + 2 437 c.163G>A c.(163-165)Gta>Ata p.V55I DAOA-AS1_uc021rmh.1_Intron|DAOA_uc010tjf.2_5'UTR|DAOA_uc001vpz.3_Non-coding_Transcript|DAOA_uc010agd.3_Non-coding_Transcript|DAOA_uc010tjg.2_5'UTR|DAOA_uc001vqc.3_Non-coding_Transcript|DAOA_uc001vqe.3_Non-coding_Transcript NM_172370 NP_001155286 P59103 DAOA_HUMAN Homo sapiens D-amino acid oxidase activator (DAOA), transcript variant 1, mRNA. 55 Golgi apparatus endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1) 13 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) AAGAGAGACGGTAACAAGGAA 0.388000 10 8 0 0 0.004482 0 0 GPR77 27202 broad.mit.edu 37 19 47844877 47844877 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47844877C>T uc002pgk.1 + 1 892 c.821C>T c.(820-822)cCc>cTc p.P274L GPR77_uc010ela.1_Missense_Mutation_p.P274L|GPR77_uc021uwn.1_Missense_Mutation_p.P274L NM_018485 NP_060955 Q9P296 C5ARL_HUMAN Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA. 274 chemotaxis integral to membrane|plasma membrane C5a anaphylatoxin receptor activity NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086) all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138) CGGGCTGAACCCCTCATCGTG 0.647000 29 13 0 0 0.001855 0 0 GABPB2 126626 broad.mit.edu 37 1 151090593 151090593 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:151090593C>T uc001ewr.2 + 8 1539 c.1208C>T c.(1207-1209)aCc>aTc p.T403I GABPB2_uc001ewt.2_3'UTR NM_144618 NP_653219 Q8TAK5 GABP2_HUMAN Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA. 403 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus protein heterodimerization activity|transcription regulatory region DNA binding breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7) 15 all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662) GTTGATTTCACCATGGTTGAA 0.522000 21 21 0 0 0.001882 0 0 UNC13D 201294 broad.mit.edu 37 17 73839597 73839598 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:73839597_73839598GG>AA uc002jpp.3 - 1 500_501 c.120_121CC>TT c.(118-123)atccag>atTTag p.Q41* UNC13D_uc010wsk.1_Nonsense_Mutation_p.Q41*|UNC13D_uc002jpq.1_5'UTR|UNC13D_uc010dgq.1_5'Flank NM_199242 NP_954712 Q70J99 UN13D_HUMAN Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA. 41 positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) GATGGAGGCTGGATCTGCAGAG 0.639000 Familial Hemophagocytic Lymphohistiocytosis 15 10 0 0 0.004672 0 0 EML3 256364 broad.mit.edu 37 11 62378444 62378444 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62378444G>A uc010rly.1 - 3 781 c.473C>T c.(472-474)tCc>tTc p.S158F EML3_uc001ntr.1_Missense_Mutation_p.S130F|EML3_uc001nts.1_Missense_Mutation_p.S130F|EML3_uc001ntt.1_Intron|EML3_uc001ntu.1_Missense_Mutation_p.S158F|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank Q32P44 EMAL3_HUMAN Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA. 158 Poly-Ser. cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGATGAGGAGGAGGAAGAATT 0.612000 17 10 0 0 0.000673 0 0 APOL5 80831 broad.mit.edu 37 22 36123135 36123135 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:36123135G>A uc003aof.3 + 2 1020 c.1020G>A c.(1018-1020)ctG>ctA p.L340L NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 340 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGCAGGAGCTGGACCGGCTCA 0.627000 16 17 0 0 0.004007 0 0 SCAF1 58506 broad.mit.edu 37 19 50150025 50150026 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50150025_50150026CC>TT uc002poq.3 + 5 540_541 c.416_417CC>TT c.(415-417)ccc>cTT p.P139L NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 139 RNA splicing|mRNA processing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GACAGAGATCCCATCCCTCTGC 0.663000 5 8 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179440199 179440199 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179440199G>A uc021vsy.1 - 274 63181 c.62956C>T c.(62956-62958)Cct>Tct p.P20986S MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P14681S|TTN_uc021vta.1_Missense_Mutation_p.P14614S|TTN_uc021vtb.1_Missense_Mutation_p.P14489S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 21913 Ig-like 112. 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) TTGGGCTTAGGCCATGCCAGG 0.507000 119 63 0 0 0.003610 0 0 KIAA1704 55425 broad.mit.edu 37 13 45594490 45594490 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:45594490C>T uc001uzq.3 + 6 834 c.731C>T c.(730-732)tCc>tTc p.S244F KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_Missense_Mutation_p.S244F|KIAA1704_uc001uzs.3_Missense_Mutation_p.S121F|KIAA1704_uc001uzt.3_Missense_Mutation_p.S95F NM_018559 NP_061029 Q8IXQ4 K1704_HUMAN Homo sapiens KIAA1704 (KIAA1704), mRNA. 244 breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1) 12 Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126) AGGAAGTCATCCAGTAAGAAA 0.299000 54 35 0 0 0.002222 0 0 HAO2 51179 broad.mit.edu 37 1 119925619 119925619 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:119925619C>T uc001ehr.1 + 2 345 c.213C>T c.(211-213)gcC>gcT p.A71A HAO2_uc001ehq.1_Silent_p.A71A NM_016527 NP_057611 Q9NYQ3 HAOX2_HUMAN Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA. 71 FMN hydroxy acid dehydrogenase. fatty acid alpha-oxidation peroxisome (S)-2-hydroxy-acid oxidase activity breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856) AGATCAGTGCCCCTATTTGTA 0.557000 28 17 0 0 0.004990 0 0 CCDC61 729440 broad.mit.edu 37 19 46511477 46511477 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:46511477G>A uc002pdw.3 + 5 640 c.640G>A c.(640-642)Gag>Aag p.E214K CCDC61_uc021uwd.1_Missense_Mutation_p.E157K NM_001080402 NP_001073871 Homo sapiens coiled-coil domain containing 61 (CCDC61), mRNA. endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1) 13 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164) GTCACTGAAGGAGGAACTGGG 0.617000 11 6 0 0 0.004482 0 0 GPSM2 29899 broad.mit.edu 37 1 109472379 109472379 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:109472379G>A uc010ovc.2 + 14 2368 c.1872G>A c.(1870-1872)ccG>ccA p.P624P AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Silent_p.P624P|GPSM2_uc010ove.1_Silent_p.P624P|CLCC1_uc001dwg.1_3'UTR|CLCC1_uc001dwf.1_3'UTR NM_013296 NP_037428 P81274 GPSM2_HUMAN Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA. 624 G-protein coupled receptor protein signaling pathway cell cortex|nucleus GTPase activator activity|identical protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3) 14 all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209) CAAAGGGTCCGACAGTACCAG 0.413000 161 106 0 0 0.003610 0 0 F13B 2165 broad.mit.edu 37 1 197032154 197032154 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197032154C>T uc001gtt.1 - 1 142 c.98G>A c.(97-99)gGa>gAa p.G33E NM_001994 NP_001985 P05160 F13B_HUMAN Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA. 33 Sushi 1. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 GGCAATTCTTCCATTTTCCAC 0.318000 106 61 0 0 0.003610 0 0 CYP4F11 57834 broad.mit.edu 37 19 16032847 16032847 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:16032847C>T uc002nbu.2 - 9 1151 c.1115_splice c.e9+1 p.W372_splice CYP4F11_uc010eab.1_Splice_Site_p.W372_splice|CYP4F11_uc002nbt.2_Splice_Site_p.W372_splice NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 372 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 CTGCACTCACCATTCAATCTC 0.498000 35 8 0 0 0.004482 0 0 OR1S2 219958 broad.mit.edu 37 11 57971029 57971029 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:57971029C>T uc010rkb.2 - 0 625 c.625G>A c.(625-627)Gag>Aag p.E209K NM_001004459 NP_001004459 Q8NGQ3 OR1S2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) AACACAAGCTCATTGATCATT 0.443000 46 23 0 0 0.002780 0 0 APC2 10297 broad.mit.edu 37 19 1465626 1465626 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1465626G>A uc002lsr.1 + 14 2534 c.2326G>A c.(2326-2328)Ggc>Agc p.G776S APC2_uc002lss.1_Missense_Mutation_p.G358S|APC2_uc002lst.1_Missense_Mutation_p.G776S|APC2_uc002lsu.1_Missense_Mutation_p.G775S|C19orf25_uc010xgn.1_Intron NM_005883 NP_005874 O95996 APC2_HUMAN Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA. 776 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus Golgi membrane|actin filament|catenin complex|cytoplasmic microtubule|lamellipodium membrane|perinuclear region of cytoplasm beta-catenin binding|microtubule binding breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2) 18 Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|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) TTCCGATTCGGGCTGCTTTGA 0.716000 6 4 0 0 0.001984 0 0 PTCH2 8643 broad.mit.edu 37 1 45293690 45293690 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:45293690G>A uc010olf.2 - 13 1895 c.1883C>T c.(1882-1884)tCt>tTt p.S628F PTCH2_uc021omv.1_Missense_Mutation_p.S628F|PTCH2_uc010olg.2_Missense_Mutation_p.S326F NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA. 628 protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 50 Acute lymphoblastic leukemia(166;0.155) CAGTGGGTCAGAAGGTGGGGG 0.622000 Basal Cell Nevus syndrome 26 24 0 0 0.002299 0 0 RYR2 6262 broad.mit.edu 37 1 237758937 237758937 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237758937G>A uc001hyl.1 + 33 4696 c.4576G>A c.(4576-4578)Gaa>Aaa p.E1526K NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1526 4 X approximate repeats.|B30.2/SPRY 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAATGGCAAGGAACTGAGCAC 0.498000 11 8 0 0 0.000978 0 0 KIF26B 55083 broad.mit.edu 37 1 245704184 245704184 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:245704184C>T uc001ibf.1 + 4 1722 c.1282C>T c.(1282-1284)Cct>Tct p.P428S KIF26B_uc010pyq.1_Missense_Mutation_p.P428S|KIF26B_uc001ibg.1_Missense_Mutation_p.P46S NM_018012 NP_060482 Q2KJY2 KI26B_HUMAN Homo sapiens kinesin family member 26B (KIF26B), mRNA. 428 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) GCAGACCTCCCCTCCCCCAGC 0.592000 32 17 0 0 0.004007 0 0 ZFHX4 79776 broad.mit.edu 37 8 77768148 77768148 + Missense_Mutation SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:77768148C>G uc003yau.2 + 9 9378 c.8991C>G c.(8989-8991)atC>atG p.I2997M ZFHX4_uc003yaw.1_Missense_Mutation_p.I2952M NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 2952 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G2997R(2)|p.C2996C(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTTTCATGATCAATCAAGGCG 0.473000 HNSCC(33;0.089) 23 6 0 0 0.003080 0 0 SERPINB9 5272 broad.mit.edu 37 6 2890648 2890648 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:2890648G>A uc003mug.3 - 6 1001 c.880C>T c.(880-882)Caa>Taa p.Q294* AY927512_uc003mue.3_Intron|SERPINB9_uc003muf.3_Nonsense_Mutation_p.Q97* NM_004155 NP_004146 P50453 SPB9_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 9 (SERPINB9), mRNA. 294 anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis cytosol|extracellular space|nucleus caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 15 Ovarian(93;0.0412) all_hematologic(90;0.108) TTGCCCTGTTGGAAGGCATCA 0.463000 88 28 0 0 0.001512 0 0 POFUT1 23509 broad.mit.edu 37 20 30816216 30816216 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:30816216C>T uc002wxp.3 + 4 742 c.693C>T c.(691-693)gtC>gtT p.V231V POFUT1_uc010ztt.2_Silent_p.V123V|POFUT1_uc010ztu.2_Silent_p.V20V NM_015352 NP_056167 Q9H488 OFUT1_HUMAN Homo sapiens protein O-fucosyltransferase 1 (POFUT1), transcript variant 1, mRNA. 231 Notch signaling pathway|O-glycan processing|fucose metabolic process|regulation of transcription, DNA-dependent endoplasmic reticulum|membrane peptide-O-fucosyltransferase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1) 6 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) CCCACCTTGTCCGGCCCTATG 0.552000 22 11 0 0 0.000978 0 0 XPO4 64328 broad.mit.edu 37 13 21382643 21382643 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:21382643G>A uc001unq.4 - 11 1607 c.1571C>T c.(1570-1572)tCa>tTa p.S524L NM_022459 NP_071904 Q9C0E2 XPO4_HUMAN Homo sapiens exportin 4 (XPO4), mRNA. 524 protein transport cytoplasm|nucleus protein binding breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 41 all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548) AACAGTGCTTGAACCCGGTGA 0.358000 29 12 0 0 0.001368 0 0 TLE6 79816 broad.mit.edu 37 19 2987014 2987015 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:2987014_2987015CC>TT uc002lwt.2 + 6 428_429 c.319_320CC>TT c.(319-321)ccc>TTc p.P107F TLE6_uc002lwu.2_5'UTR NM_001143986 NP_079036 Q9H808 TLE6_HUMAN Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA. 0 regulation of transcription, DNA-dependent nucleus breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1) 10 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) CCCTGGGACGCCCCAGCAGGTG 0.634000 6 9 0 0 0.004672 0 0 TAOK2 9344 broad.mit.edu 37 16 29998361 29998361 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:29998361C>T uc010bzm.2 + 14 2824 c.2789C>T c.(2788-2790)tCc>tTc p.S930F BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Intron|TAOK2_uc021tgf.1_Missense_Mutation_p.S810F|TAOK2_uc002dva.2_Missense_Mutation_p.S923F|TAOK2_uc002dvc.2_Intron|TAOK2_uc002dvd.2_Missense_Mutation_p.S750F NM_016151 NP_057235 Q9UL54 TAOK2_HUMAN Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA. 923 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGTTGTCCTTCCCCCGACATC 0.662000 57 32 0 0 0.003755 0 0 MAB21L1 4081 broad.mit.edu 37 13 36049943 36049943 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:36049943G>A uc001uvc.3 - 1 915 c.333C>T c.(331-333)tcC>tcT p.S111S NBEA_uc021ric.1_Intron|NBEA_uc021rid.1_Intron|NBEA_uc010abi.3_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.2_5'Flank|NBEA_uc010teg.1_5'Flank NM_005584 NP_005575 Q13394 MB211_HUMAN Homo sapiens mab-21-like 1 (C. elegans) (MAB21L1), mRNA. 111 anatomical structure morphogenesis nucleus breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 20 Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202) all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115) CCACCCAGAGGGACATGCTCC 0.577000 24 12 0 0 0.000978 0 0 TTN 7273 broad.mit.edu 37 2 179481736 179481736 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179481736T>C uc021vsy.1 - 204 40401 c.40176A>G c.(40174-40176)gaA>gaG p.E13392E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.E7087E|TTN_uc021vta.1_Silent_p.E7020E|TTN_uc021vtb.1_Silent_p.E6895E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14319 Ig-like 90. 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) CCATTGTTGGTTCAACTACAA 0.393000 85 37 0 0 0.006230 0 0 PCLO 27445 broad.mit.edu 37 7 82474693 82474694 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82474693_82474694CC>TT uc003uhx.2 - 12 14228_14229 c.13939_13940GG>AA c.(13939-13941)gga>AAa p.G4647K PCLO_uc003uhv.2_Missense_Mutation_p.G4647K|PCLO_uc003uht.1_Missense_Mutation_p.G98K|PCLO_uc003uhu.1_Missense_Mutation_p.G77K NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 4535 C2 1. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 AACATGAGATCCTTTTTCAACA 0.535000 20 9 0 0 0.004672 0 0 OR2M3 127062 broad.mit.edu 37 1 248366576 248366576 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:248366576G>A uc010pzg.2 + 0 207 c.207G>A c.(205-207)atG>atA p.M69I NM_001004689 NP_001004689 Q8NG83 OR2M3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA. 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L68L(1) endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TGTCCCTCATGGACCTCATGC 0.532000 156 66 0 0 0.003610 0 0 UNC13A 23025 broad.mit.edu 37 19 17783268 17783268 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:17783268C>T uc021uqk.1 - 3 231 c.189G>A c.(187-189)gaG>gaA p.E63E NM_001080421 NP_001073890 Q9UPW8 UN13A_HUMAN Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA. 63 C2 1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TATTCCACACCTCCACCGTCA 0.597000 8 14 0 0 0.004007 0 0 LRP1B 53353 broad.mit.edu 37 2 141625795 141625795 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:141625795G>A uc002tvj.1 - 25 5179 c.4207C>T c.(4207-4209)Cgc>Tgc p.R1403C LRP1B_uc010fnl.1_Missense_Mutation_p.R585C NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 1403 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GATTCAATGCGAGGAAAATTT 0.353000 TSP Lung(27;0.18) 26 20 0 0 0.007413 0 0 SIGLEC6 946 broad.mit.edu 37 19 52033135 52033135 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:52033135G>A uc002pwy.3 - 4 1063 c.855C>T c.(853-855)agC>agT p.S285S SIGLEC6_uc002pwz.3_Silent_p.S269S|SIGLEC6_uc010ydb.2_Silent_p.S233S|SIGLEC6_uc010ydc.2_Silent_p.S296S|SIGLEC6_uc002pxa.3_Silent_p.S285S|SIGLEC6_uc010eoz.2_Silent_p.S274S|SIGLEC6_uc010epa.2_Silent_p.S274S|SIGLEC6_uc010epb.2_Silent_p.S238S NM_001245 NP_001236 O43699 SIGL6_HUMAN Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA. 285 Ig-like C2-type 2. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) CCTGGAACCAGCTCAGGTGTG 0.612000 34 25 0 0 0.004656 0 0 CLCN7 1186 broad.mit.edu 37 16 1505732 1505732 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:1505732G>A uc002clv.2 - 11 1091 c.981_splice c.e11+1 p.I327_splice CLCN7_uc002clw.2_Splice_Site_p.I303_splice NM_001287 NP_001278 P51798 CLCN7_HUMAN Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA. 327 integral to membrane|lysosomal membrane ATP binding|antiporter activity|voltage-gated chloride channel activity breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2) 24 Hepatocellular(780;0.0893) AGGAACTTACGATCCTCCAGG 0.637000 33 13 0 0 0.003163 0 0 DPY19L4 286148 broad.mit.edu 37 8 95802125 95802125 + Missense_Mutation SNP C T T rs140198354 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:95802125C>T uc003ygx.2 + 18 2283 c.2159C>T c.(2158-2160)tCc>tTc p.S720F NM_181787 NP_861452 Q7Z388 D19L4_HUMAN Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA. 720 integral to membrane breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 21 Breast(36;3.85e-06) ACTGTGATATCCTTCCAGTCT 0.343000 181 87 0 0 0.003610 0 0 RFT1 91869 broad.mit.edu 37 3 53133502 53133503 + Splice_Site DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:53133502_53133503CC>TT uc003dgj.3 - 11 1157 c.1103_splice c.e11-1 p.G368_splice NM_052859 NP_443091 Q96AA3 RFT1_HUMAN Homo sapiens RFT1 homolog (S. cerevisiae) (RFT1), mRNA. 368 carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane lipid transporter activity NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2) 12 BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104) CAAAACAGGACCTACAAGGAAA 0.500000 18 7 0 0 0.004672 0 0 EMR1 2015 broad.mit.edu 37 19 6926573 6926573 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:6926573C>T uc002mfw.3 + 15 2221 c.2183C>T c.(2182-2184)tCt>tTt p.S728F EMR1_uc010dvc.3_Missense_Mutation_p.S663F|EMR1_uc010dvb.3_Missense_Mutation_p.S676F|EMR1_uc010xji.2_Missense_Mutation_p.S587F|EMR1_uc010xjj.2_Missense_Mutation_p.S551F NM_001974 NP_001965 Q14246 EMR1_HUMAN Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA. 728 cell adhesion|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity|calcium ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) GTGGTGATCTCTGCCAGTGTG 0.512000 20 27 0 0 0.001512 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139777 55139777 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:55139777G>A uc003han.4 + 9 1769 c.1438G>A c.(1438-1440)Gac>Aac p.D480N PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.D374N|PDGFRA_uc003ham.2_Non-coding_Transcript NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 480 Ig-like C2-type 5. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.D480E(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) CCACTCCCGAGACAGGAGTAC 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 34 23 0 0 0.004656 0 0 FUT2 2524 broad.mit.edu 37 19 49206302 49206302 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49206302A>T uc002pke.4 + 1 200 c.89A>T c.(88-90)cAg>cTg p.Q30L FUT2_uc010emc.3_Missense_Mutation_p.Q30L|FUT2_uc021uwx.1_Missense_Mutation_p.Q30L NM_001097638 NP_001091107 Q10981 FUT2_HUMAN Homo sapiens fucosyltransferase 2 (secretor status included) (FUT2), transcript variant 2, mRNA. 30 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) CACGTTCAGCAGCGGCTAGCG 0.537000 96 39 0 0 0.006230 0 0 SEPHS2 22928 broad.mit.edu 37 16 30455791 30455791 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30455791G>A uc021tgl.1 - 0 1434 c.1258C>T c.(1258-1260)Ccg>Tcg p.P420S SEPHS2_uc002dyh.1_Missense_Mutation_p.P363S NM_012248 Q99611 SPS2_HUMAN Homo sapiens selenophosphate synthetase 2 (SEPHS2), mRNA. 420 selenocysteine biosynthetic process ATP binding|selenide, water dikinase activity breast(3)|cervix(1)|kidney(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 10 ATAACTCGCGGCTTGTCAATG 0.522000 28 29 0 0 0.001512 0 0 TMEM246 84302 broad.mit.edu 37 9 104238586 104238586 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:104238586C>T uc004bbm.3 - 1 1111 c.789G>A c.(787-789)ctG>ctA p.L263L AK094413_uc004bbl.1_5'Flank|TMEM246_uc022blf.1_Silent_p.L263L NM_032342 NP_115718 Q9BRR3 CI125_HUMAN Homo sapiens chromosome 9 open reading frame 125 (C9orf125), mRNA. 263 integral to membrane CAACCCATTCCAGGATCCGCA 0.537000 37 29 0 0 0.007291 0 0 OR2A2 442361 broad.mit.edu 37 7 143807181 143807181 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143807181G>A uc011ktz.2 + 0 506 c.506G>A c.(505-507)gGg>gAg p.G169E NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA. 169 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) CCCTTCTGTGGGCCCCGGGAT 0.527000 42 31 0 0 0.001512 0 0 EVI5L 115704 broad.mit.edu 37 19 7911451 7911451 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:7911451C>T uc010xjz.2 + 0 70 c.23C>T c.(22-24)cCc>cTc p.P8L EVI5L_uc002min.3_Missense_Mutation_p.P8L NM_001159944 NP_001153416 Q96CN4 EVI5L_HUMAN Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA. 8 intracellular Rab GTPase activator activity|protein binding breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 ACTCTGAGCCCCGACTCCTCA 0.657000 8 6 0 0 0.001984 0 0 DIDO1 11083 broad.mit.edu 37 20 61513394 61513394 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:61513394G>A uc002ydr.2 - 15 4226 c.3914C>T c.(3913-3915)tCg>tTg p.S1305L DIDO1_uc002yds.2_Missense_Mutation_p.S1305L NM_001193369 NP_149072 Q9BTC0 DIDO1_HUMAN Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA. 1305 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GGAAGCAGACGAAGCGGTGGA 0.597000 79 34 0 0 0.005524 0 0 ELL 8178 broad.mit.edu 37 19 18556038 18556038 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:18556038T>C uc002njh.3 - 10 1817 c.1745A>G c.(1744-1746)aAa>aGa p.K582R ELL_uc010ebq.3_Missense_Mutation_p.K525R|ELL_uc002njg.3_Missense_Mutation_p.K449R NM_006532 NP_006523 P55199 ELL_HUMAN Homo sapiens elongation factor RNA polymerase II (ELL), mRNA. 582 positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction Cajal body|nuclear speck|transcription elongation factor complex protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1) 19 GBM - Glioblastoma multiforme(1328;7.81e-07) ACTCACCTTTTTGATTTTTCG 0.517000 T MLL AL 53 76 0 0 0.003610 0 0 ANKZF1 55139 broad.mit.edu 37 2 220097914 220097914 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:220097914G>A uc002vkg.3 + 6 845 c.671_splice c.e6+1 p.G224_splice ANKZF1_uc010zkv.1_Splice_Site_p.G168_splice|ANKZF1_uc010zkw.1_Splice_Site_p.G14_splice|ANKZF1_uc002vkh.3_Splice_Site_p.G14_splice|ANKZF1_uc002vki.3_Splice_Site_p.G224_splice|ANKZF1_uc002vkj.1_Splice_Site_p.G212_splice NM_018089 NP_060559 Q9H8Y5 ANKZ1_HUMAN Homo sapiens ankyrin repeat and zinc finger domain containing 1 (ANKZF1), transcript variant 1, mRNA. 224 intracellular zinc ion binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 23 Renal(207;0.0474) Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TATTTCAAGGGTGAGAGGGTG 0.547000 71 36 0 0 0.003755 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19285377 19285377 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:19285377T>C uc001reb.3 + 2 328 c.220T>C c.(220-222)Tat>Cat p.Y74H PLEKHA5_uc010sie.2_Missense_Mutation_p.Y74H|PLEKHA5_uc001rea.3_Missense_Mutation_p.Y74H|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc001rdz.4_Missense_Mutation_p.Y74H NM_019012 NP_061885 Q9HAU0 PKHA5_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA. 74 WW 2. 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) TGCAAGATACTATATAAAGTG 0.313000 40 40 0 0 0.001951 0 0 TKTL2 84076 broad.mit.edu 37 4 164393683 164393683 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:164393683C>T uc003iqp.4 - 0 1365 c.1204G>A c.(1204-1206)Gat>Aat p.D402N NM_032136 NP_115512 Q9H0I9 TKTL2_HUMAN Homo sapiens transketolase-like 2 (TKTL2), mRNA. 402 cytoplasm metal ion binding|transketolase activity p.F401F(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 70 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CGGAGCTGATCGAATGCTCTA 0.488000 21 12 0 0 0.000978 0 0 STEAP1 26872 broad.mit.edu 37 7 89791250 89791250 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:89791250C>T uc003ujx.3 + 3 820 c.620C>T c.(619-621)gCc>gTc p.A207V STEAP1_uc010lem.3_Missense_Mutation_p.A207V NM_012449 NP_036581 Q9UHE8 STEA1_HUMAN Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA. 207 Ferric oxidoreductase. electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) AAAGAAGATGCCTGGATTGAG 0.393000 33 10 0 0 0.003954 0 0 TAAR2 9287 broad.mit.edu 37 6 132938531 132938531 + Silent SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:132938531A>G uc003qdl.1 - 1 814 c.814T>C c.(814-816)Tta>Cta p.L272L TAAR2_uc010kfr.1_Silent_p.L227L NM_001033080 NP_055441 Q9P1P5 TAAR2_HUMAN Homo sapiens trace amine associated receptor 2 (TAAR2), transcript variant 1, mRNA. 272 plasma membrane G-protein coupled receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1) 23 Breast(56;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151) CAACATAATAAGAAAACTCCT 0.343000 7 8 0 0 0.000978 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74506976 74506976 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:74506976C>T uc001dfy.4 - 6 1831 c.1639G>A c.(1639-1641)Gag>Aag p.E547K LRRIQ3_uc001dfz.4_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 547 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGGCTTTTCTCTTTTAGGACA 0.308000 46 34 0 0 0.002836 0 0 POU2F3 25833 broad.mit.edu 37 11 120187960 120187960 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:120187960G>A uc021qrk.1 + 11 1198 c.1164G>A c.(1162-1164)ggG>ggA p.G388G POU2F3_uc001pxc.3_Silent_p.G386G|POU2F3_uc010rzk.2_Silent_p.G340G|POU2F3_uc010rzl.2_Silent_p.G316G|POU2F3_uc001pxe.1_Silent_p.G171G NM_001244682 NP_001231611 Q9UKI9 PO2F3_HUMAN Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA. 386 Ser-rich. negative regulation by host of viral transcription cytoplasm sequence-specific DNA binding large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1) 17 Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;6.85e-06) GTTCCCCTGGGAACAACAGCA 0.547000 27 16 0 0 0.006122 0 0 TMEM168 64418 broad.mit.edu 37 7 112423923 112423923 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:112423923G>A uc003vgn.3 - 1 1350 c.958C>T c.(958-960)Cat>Tat p.H320Y TMEM168_uc010lju.3_Missense_Mutation_p.H320Y|TMEM168_uc011kmr.2_Intron NM_022484 NP_071929 Q9H0V1 TM168_HUMAN Homo sapiens transmembrane protein 168 (TMEM168), mRNA. 320 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 AATTTGGTATGGAATCCCCAA 0.348000 93 42 0 0 0.007835 0 0 STK11 6794 broad.mit.edu 37 19 1220485 1220485 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1220485C>T uc002lrl.1 + 3 1693 c.578C>T c.(577-579)tCc>tTc p.S193F NM_000455 NP_000446 Q15831 STK11_HUMAN Homo sapiens serine/threonine kinase 11 (STK11), mRNA. 193 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.Y156fs*87(4)|p.?(3) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) CTCAAAATCTCCGACCTGGGC 0.677000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 4 6 0 0 0.001984 0 0 OPRK1 4986 broad.mit.edu 37 8 54142187 54142187 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:54142187C>T uc003xrh.1 - 2 1188 c.813G>A c.(811-813)agG>agA p.R271R OPRK1_uc022aup.1_Silent_p.R151R|OPRK1_uc003xri.1_Silent_p.R271R|OPRK1_uc010lyc.1_Silent_p.R182R NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 271 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GTCTGGTGATCCTACGCAGGT 0.572000 38 13 0 0 0.002450 0 0 DROSHA 29102 broad.mit.edu 37 5 31405818 31405818 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:31405818C>T uc003jhg.2 - 33 4319 c.3960G>A c.(3958-3960)gcG>gcA p.A1320A DROSHA_uc003jhh.2_Silent_p.A1283A NM_013235 NP_037367 Q9NRR4 RNC_HUMAN Homo sapiens drosha, ribonuclease type III (DROSHA), transcript variant 1, mRNA. 1320 DRBM.|Necessary for interaction with DGCR8 and pri-miRNA processing activity. RNA processing|gene silencing by RNA|ribosome biogenesis nucleolus|nucleoplasm double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(19)|lung(33)|ovary(2)|skin(1) 66 CTCCCATTTCCGCTTGCTGAA 0.269000 2 4 0 0 0.001168 0 0 LRP1B 53353 broad.mit.edu 37 2 141032011 141032011 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:141032011C>T uc002tvj.1 - 84 14096 c.13124G>A c.(13123-13125)aGt>aAt p.S4375N NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 4375 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TATATCTTCACTGTCTTTATT 0.383000 TSP Lung(27;0.18) 24 10 0 0 0.000978 0 0 CTNNA2 1496 broad.mit.edu 37 2 80816453 80816453 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:80816453G>A uc010ysh.2 + 13 2037 c.2032G>A c.(2032-2034)Gag>Aag p.E678K CTNNA2_uc010yse.2_Missense_Mutation_p.E678K|CTNNA2_uc010ysf.2_Missense_Mutation_p.E678K|CTNNA2_uc010ysg.2_Missense_Mutation_p.E678K|CTNNA2_uc010ysi.2_Missense_Mutation_p.E310K|CTNNA2_uc010ysj.2_Missense_Mutation_p.E7K NM_004389 NP_004380 P26232 CTNA2_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA. 678 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 ACTACCGCAGGAGGAGAAGGC 0.507000 8 10 0 0 0.000673 0 0 FMNL2 114793 broad.mit.edu 37 2 153417498 153417498 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:153417498C>T uc002tye.3 + 5 912 c.545C>T c.(544-546)cCc>cTc p.P182L NM_052905 NP_443137 Q96PY5 FMNL2_HUMAN Homo sapiens formin-like 2 (FMNL2), mRNA. 182 GBD/FH3. actin cytoskeleton organization cytoplasm Rho GTPase binding|actin binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 AGCAACCTGCCCTCACCTGTG 0.542000 5 3 0 0 0.000602 0 0 UBR1 197131 broad.mit.edu 37 15 43367225 43367225 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43367225G>A uc001zqq.3 - 3 546 c.480C>T c.(478-480)ggC>ggT p.G160G UBR1_uc010udk.1_Silent_p.G160G NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA. 160 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) CACAAAAAGGGCCAGTTTTCC 0.363000 146 76 0 0 0.003610 0 0 PCDH15 65217 broad.mit.edu 37 10 55582303 55582303 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:55582303C>T uc010qhy.1 - 34 5599 c.5204G>A c.(5203-5205)aGa>aAa p.R1735K PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.R1730K|PCDH15_uc021pqz.1_Missense_Mutation_p.R1705K|PCDH15_uc010qhv.1_Missense_Mutation_p.R1725K|PCDH15_uc010qhw.1_Missense_Mutation_p.R1688K|PCDH15_uc010qhx.1_Missense_Mutation_p.R1659K|PCDH15_uc010qhz.1_Missense_Mutation_p.R1730K|PCDH15_uc010qia.1_Missense_Mutation_p.R1708K|PCDH15_uc001jju.1_Missense_Mutation_p.R1728K|PCDH15_uc010qib.1_Missense_Mutation_p.R1705K NM_001142763 NP_001136235 Q96QU1 PCD15_HUMAN Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA. 1728 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding p.A1735A(2) NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) AAAAATATTTCTTTCGGTTTC 0.443000 HNSCC(58;0.16) 17 8 0 0 0.003080 0 0 SMC6 79677 broad.mit.edu 37 2 17860180 17860180 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:17860180C>T uc002rco.3 - 24 3152 c.2856G>A c.(2854-2856)cgG>cgA p.R952R SMC6_uc010exo.3_Silent_p.R952R|SMC6_uc002rcn.3_Silent_p.R952R NM_001142286 NP_078900 Q96SB8 SMC6_HUMAN Homo sapiens structural maintenance of chromosomes 6 (SMC6), transcript variant 1, mRNA. 952 DNA recombination|DNA repair chromosome|nucleus ATP binding p.R952W(1) NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CACAATAGGCCCGCTGAGATA 0.303000 37 10 0 0 0.001368 0 0 TTLL11 158135 broad.mit.edu 37 9 124794087 124794087 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:124794087G>A uc011lyl.2 - 2 1066 c.878C>T c.(877-879)aCc>aTc p.T293I TTLL11_uc004blr.3_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blt.1_Missense_Mutation_p.T293I|TTLL11_uc004blu.1_Intron NM_001139442 NP_001132914 Q8NHH1 TTL11_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA. 293 TTL. protein modification process cilium|microtubule basal body tubulin-tyrosine ligase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1) 18 ATTCTGCATGGTTCTCACTGC 0.498000 48 20 0 0 0.001882 0 0 ANKRD45 339416 broad.mit.edu 37 1 173596232 173596233 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:173596232_173596233CC>TT uc001gja.1 - 3 623_624 c.562_563GG>AA c.(562-564)gga>AAa p.G188K NM_198493 NP_940895 Q5TZF3 ANR45_HUMAN Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA. 204 NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1) 12 TTTCCCTGATCCCTTTTCTGTG 0.356000 52 15 0 0 0.004672 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8654159 8654159 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8654159C>T uc002mkj.1 - 17 2399 c.2125G>A c.(2125-2127)Gag>Aag p.E709K ADAMTS10_uc002mki.1_Missense_Mutation_p.E196K|ADAMTS10_uc002mkk.1_Missense_Mutation_p.E341K NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 709 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 AAGACGCCCTCGATGGTCTCG 0.672000 15 13 0 0 0.002450 0 0 OTOF 9381 broad.mit.edu 37 2 26702454 26702454 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:26702454C>T uc002rhk.3 - 16 2107 c.1980G>A c.(1978-1980)ggG>ggA p.G660G OTOF_uc002rhh.3_5'Flank|OTOF_uc002rhi.3_5'Flank|OTOF_uc002rhj.3_5'Flank NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 660 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTTCCTCATCCCCCGGCTCCT 0.637000 25 11 0 0 0.000978 0 0 TMEM131 23505 broad.mit.edu 37 2 98453576 98453576 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:98453576G>A uc002syh.4 - 7 997 c.768C>T c.(766-768)ctC>ctT p.L256L TMEM131_uc010yvg.1_Non-coding_Transcript NM_015348 NP_056163 Q92545 TM131_HUMAN Homo sapiens transmembrane protein 131 (TMEM131), mRNA. 256 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 GACCCGTTGGGAGTTCTAGGT 0.438000 41 13 0 0 0.001855 0 0 DNAH11 8701 broad.mit.edu 37 7 21781647 21781647 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:21781647C>T uc003svc.3 + 49 8069 c.8038C>T c.(8038-8040)Cca>Tca p.P2680S NM_003777 NP_003768 Q96DT5 DYH11_HUMAN Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA. 2680 AAA 3 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGCATTTGCTCCATCAATTCT 0.403000 Kartagener syndrome 74 24 0 0 0.003954 0 0 SYNJ1 8867 broad.mit.edu 37 21 34030093 34030093 + Missense_Mutation SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:34030093C>G uc002yqh.2 - 18 2511 c.2511G>C c.(2509-2511)aaG>aaC p.K837N SYNJ1_uc011ads.1_Missense_Mutation_p.K793N|SYNJ1_uc002yqf.2_Missense_Mutation_p.K798N|SYNJ1_uc002yqg.2_Missense_Mutation_p.K793N|SYNJ1_uc002yqi.2_Missense_Mutation_p.K837N NM_003895 NP_003886 O43426 SYNJ1_HUMAN Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA. 798 Catalytic (Potential). RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 GGGTGCGGCACTTTTCACTGG 0.413000 39 9 0 0 0.004482 0 0 OR9G9 390174 broad.mit.edu 37 11 56468463 56468463 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56468463C>T uc010rjn.2 + 0 600 c.600C>T c.(598-600)ttC>ttT p.F200F OR8U8_uc001nit.2_Intron NM_001013358 NP_001013376 Q8NH87 OR9G1_HUMAN Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA. 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity TGATGTACTTCCTGCTGGCCT 0.512000 83 14 0 0 0.002450 0 0 PSD 5662 broad.mit.edu 37 10 104165107 104165107 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104165107C>T uc001kvg.1 - 11 2849 c.2322G>A c.(2320-2322)agG>agA p.R774R PSD_uc001kvh.1_Silent_p.R395R|PSD_uc009xxd.1_Silent_p.R774R NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 774 PH. regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) ACATACTCTTCCTGCAGTCAG 0.672000 82 34 0 0 0.002852 0 0 RREB1 6239 broad.mit.edu 37 6 7231372 7231372 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:7231372C>T uc003mxb.3 + 9 3532 c.3040C>T c.(3040-3042)Ctg>Ttg p.L1014L RREB1_uc021yky.1_Silent_p.L1014L|RREB1_uc003mxc.3_Silent_p.L1014L|RREB1_uc010jnx.3_Silent_p.L1014L|RREB1_uc021ykz.1_Silent_p.L1014L|RREB1_uc021yla.1_Intron NM_001003699 NP_001003699 Q92766 RREB1_HUMAN Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA. 1014 Pro-rich. Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CCCTGTTCAGCTGGCGGTCCC 0.682000 22 9 0 0 0.004482 0 0 OR5D14 219436 broad.mit.edu 37 11 55563136 55563136 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55563136C>T uc010rim.2 + 0 105 c.105C>T c.(103-105)ctC>ctT p.L35L NM_001004735 NP_001004735 Q8NGL3 OR5DE_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA. 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) TGTTTCTGCTCATGTATGTTA 0.403000 50 29 0 0 0.007291 0 0 HMCN1 83872 broad.mit.edu 37 1 186017936 186017936 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:186017936G>A uc001grq.1 + 41 6771 c.6542G>A c.(6541-6543)gGa>gAa p.G2181E NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 2181 Ig-like C2-type 19. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AATGTTGCTGGAAAAACTGAA 0.353000 36 14 0 0 0.006122 0 0 FCRL5 83416 broad.mit.edu 37 1 157512802 157512802 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:157512802C>T uc009wsm.3 - 5 1128 c.970G>A c.(970-972)Gag>Aag p.E324K FCRL5_uc001fqu.3_Missense_Mutation_p.E324K|FCRL5_uc010phv.1_Missense_Mutation_p.E324K|FCRL5_uc010phw.1_Missense_Mutation_p.E239K|FCRL5_uc001fqv.1_Missense_Mutation_p.E324K|FCRL5_uc010phx.2_Missense_Mutation_p.E75K NM_001195388 NP_001182317 Q96RD9 FCRL5_HUMAN Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA. 324 Ig-like C2-type 3. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) GGGACACCCTCATGATAAAAC 0.498000 44 23 0 0 0.001882 0 0 TSHZ3 57616 broad.mit.edu 37 19 31767601 31767601 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:31767601G>A uc002nsy.4 - 1 3163 c.3098C>T c.(3097-3099)cCc>cTc p.P1033L NM_020856 NP_065907 Q63HK5 TSH3_HUMAN Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA. 1033 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) GTCTTCCTCGGGGGAGGACGT 0.498000 20 4 0 0 0.000602 0 0 SLC25A21 89874 broad.mit.edu 37 14 37153057 37153057 + Missense_Mutation SNP G A A rs149535012 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:37153057G>A uc001wtz.2 - 8 1124 c.814C>T c.(814-816)Ccc>Tcc p.P272S SLC25A21_uc021rsf.1_Missense_Mutation_p.P272S NM_030631 NP_085134 Q9BQT8 ODC_HUMAN Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 272 lysine catabolic process integral to membrane|mitochondrial inner membrane alpha-ketoglutarate transmembrane transporter activity|binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1) 9 Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213) Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149) GBM - Glioblastoma multiforme(112;0.00204) ATAATCTTGGGAAGCAGGCCT 0.343000 32 7 0 0 0.003080 0 0 RPS6KA1 6195 broad.mit.edu 37 1 26887601 26887601 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:26887601C>T uc001bmr.1 + 15 1570 c.1407C>T c.(1405-1407)caC>caT p.H469H RPS6KA1_uc010ofe.1_Silent_p.H377H|RPS6KA1_uc010off.1_Silent_p.H453H|RPS6KA1_uc001bms.1_Silent_p.H478H|RPS6KA1_uc009vsl.1_Silent_p.H312H NM_002953 NP_002944 Q15418 KS6A1_HUMAN Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA. 469 Protein kinase 2. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity lung(1) 1 all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234) ATGGCCAGCACCCCAACATCA 0.512000 20 14 0 0 0.003163 0 0 SLC26A11 284129 broad.mit.edu 37 17 78195515 78195515 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:78195515C>T uc002jyb.2 + 2 462 c.156C>T c.(154-156)ttC>ttT p.F52F SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Silent_p.F52F|SLC26A11_uc002jyd.2_Silent_p.F52F|SLC26A11_uc010dhv.2_Silent_p.F52F NM_173626 NP_775897 Q86WA9 S2611_HUMAN Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA. 52 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) AGATGGATTTCGTCGCCGGCC 0.682000 23 20 0 0 0.001882 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325393 47325393 + RNA SNP C T T rs61741514 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:47325393C>T uc001cqo.1 - 8 c.1175G>A Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA. TGTTTACTACCGGTGCGTAGA 0.473000 53 13 0 0 0.001368 0 0 COL6A6 131873 broad.mit.edu 37 3 130354588 130354588 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:130354588G>A uc010htl.3 + 26 5105 c.5074G>A c.(5074-5076)Gga>Aga p.G1692R COL6A6_uc003eni.4_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 1692 Triple-helical region. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGGGCTGAAGGGAGCTAGAGG 0.383000 14 9 0 0 0.000978 0 0 MYO7A 4647 broad.mit.edu 37 11 76910664 76910665 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76910664_76910665GG>AA uc001oyb.2 + 34 4925_4926 c.4653_4654GG>AA c.(4651-4656)gcgggg>gcAAgg p.G1552R MYO7A_uc010rsm.1_Intron|MYO7A_uc001oyc.2_Intron|MYO7A_uc009yus.1_Intron|MYO7A_uc009yut.1_Intron NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 1552 FERM 1. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGACCCCGGCGGGGCCCTGTTC 0.639000 5 4 0 0 0.004672 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147030090 147030090 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:147030090C>T uc010jgo.1 - 2 796 c.648G>A c.(646-648)aaG>aaA p.K216K JAKMIP2_uc003loq.1_Silent_p.K216K|JAKMIP2_uc011dbx.1_Silent_p.K174K|JAKMIP2_uc003lor.1_Silent_p.K216K|LOC153469_uc003lop.1_Intron NM_014790 NP_055605 Q96AA8 JKIP2_HUMAN Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA. 216 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGATCCTGTCCTTGGCTTTGA 0.388000 18 18 0 0 0.001216 0 0 CDH20 28316 broad.mit.edu 37 18 59166487 59166487 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:59166487C>T uc010dps.1 + 1 467 c.315C>T c.(313-315)atC>atT p.I105I CDH20_uc002lif.2_Silent_p.I99I NM_031891 NP_114097 Q9HBT6 CAD20_HUMAN Homo sapiens cadherin 20, type 2 (CDH20), mRNA. 105 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) GTGCTGGCATCGTGTTTACCA 0.517000 8 8 0 0 0.000673 0 0 ACRC 93953 broad.mit.edu 37 X 70817802 70817803 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70817802_70817803CC>TT uc004eae.2 + 6 725_726 c.224_225CC>TT c.(223-225)tcc>tTT p.S75F BCYRN1_uc011mpt.1_Intron NM_052957 NP_443189 Q96QF7 ACRC_HUMAN Homo sapiens acidic repeat containing (ACRC), mRNA. 75 nucleus autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1) 54 Renal(35;0.156) TCACTCAGCTCCGTGGTAGTGA 0.401000 10 4 0 0 0.004672 0 0 CSMD2 114784 broad.mit.edu 37 1 34035068 34035068 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:34035068G>A uc001bxm.1 - 51 8214 c.8037C>T c.(8035-8037)atC>atT p.I2679I CSMD2_uc001bxn.1_Silent_p.I2681I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2681 Sushi 17. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGCAGGAGAAGATGGCTGTTG 0.562000 35 12 0 0 0.001368 0 0 TSC2 7249 broad.mit.edu 37 16 2125886 2125887 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:2125886_2125887CC>TT uc002con.3 + 22 2738_2739 c.2632_2633CC>TT c.(2632-2634)ccc>TTc p.P878F TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.P878F|TSC2_uc002coo.3_Missense_Mutation_p.P878F|TSC2_uc010uvv.2_Missense_Mutation_p.P841F|TSC2_uc010uvw.2_Missense_Mutation_p.P829F|TSC2_uc002cop.3_Missense_Mutation_p.P678F NM_000548 NP_000539 P49815 TSC2_HUMAN Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA. 878 cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm GTPase activator activity|protein homodimerization activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1) 56 Hepatocellular(780;0.0202) GTACACCAACCCCTCCAAGTGA 0.658000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 17 15 0 0 0.004672 0 0 C12orf42 374470 broad.mit.edu 37 12 103700110 103700110 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:103700110C>T uc001tjt.2 - 4 361 c.273G>A c.(271-273)agG>agA p.R91R C12orf42_uc001tjs.3_Intron|C12orf42_uc009zuf.1_Silent_p.R91R|C12orf42_uc001tju.2_5'UTR NM_198521 NP_940923 Q96LP6 CL042_HUMAN Homo sapiens chromosome 12 open reading frame 42 (C12orf42), transcript variant 1, mRNA. 91 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 AATTTTGAGTCCTTTCTGGAA 0.373000 7 7 0 0 0.003080 0 0 TMEM57 55219 broad.mit.edu 37 1 25812149 25812149 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:25812149C>T uc001bkk.3 + 7 1561 c.1359C>T c.(1357-1359)atC>atT p.I453I TMEM57_uc009vru.3_Silent_p.I226I|TMEM57_uc009vrv.3_Silent_p.I95I NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN Homo sapiens transmembrane protein 57 (TMEM57), mRNA. 453 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) AGCAGAATATCAGCCAGTTGG 0.353000 50 21 0 0 0.001882 0 0 CLASP1 23332 broad.mit.edu 37 2 122122776 122122776 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:122122776G>A uc002tnc.3 - 34 4358 c.3968C>T c.(3967-3969)gCc>gTc p.A1323V CLASP1_uc010yyv.2_Missense_Mutation_p.A370V|CLASP1_uc002tmz.3_Missense_Mutation_p.A409V|CLASP1_uc002tna.3_Missense_Mutation_p.A370V|CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.A1264V|CLASP1_uc010yza.2_Missense_Mutation_p.A1256V|CLASP1_uc021vnl.1_Missense_Mutation_p.A1262V|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tmy.3_Missense_Mutation_p.A160V|CLASP1_uc002tnf.3_Missense_Mutation_p.A226V NM_015282 NP_056097 Q7Z460 CLAP1_HUMAN Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA. 1324 Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores. G2/M transition of mitotic cell cycle|axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization Golgi apparatus|centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) CTCCAGCAGGGCTCCCTTCCG 0.572000 9 6 0 0 0.001984 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138406667 138406667 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:138406667C>T uc003vuf.3 - 17 2352 c.2114G>A c.(2113-2115)gGg>gAg p.G705E ATP6V0A4_uc003vug.3_Missense_Mutation_p.G705E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.G705E NM_130841 NP_570856 Q9HBG4 VPP4_HUMAN Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA. 705 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 GTCCAGAGCCCCGTGGGTATC 0.532000 25 11 0 0 0.001368 0 0 C15orf2 23742 broad.mit.edu 37 15 24921244 24921244 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:24921244C>T uc001ywo.3 + 0 704 c.230C>T c.(229-231)gCt>gTt p.A77V NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 77 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CTCCCTCGGGCTGCGGCCGCC 0.706000 21 12 0 0 0.001368 0 0 LIPI 149998 broad.mit.edu 37 21 15561692 15561692 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:15561692G>A uc002yjm.3 - 1 168 c.158C>T c.(157-159)tCc>tTc p.S53F LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.S32F|LIPI_uc021whh.1_Missense_Mutation_p.S32F|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.S32F|LIPI_uc021whe.1_Missense_Mutation_p.S32F|LIPI_uc021whf.1_Missense_Mutation_p.S32F NM_198996 NP_945347 Q6XZB0 LIPI_HUMAN Homo sapiens lipase, member I (LIPI), mRNA. 32 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) ATCTCTGAAGGAATCCTTTAC 0.353000 24 10 0 0 0.000673 0 0 ATXN3L 92552 broad.mit.edu 37 X 13337352 13337352 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:13337352T>C uc010ned.3 - 0 1167 c.702A>G c.(700-702)gaA>gaG p.E234E NM_001135995 NP_001129467 Q9H3M9 ATX3L_HUMAN Homo sapiens ataxin 3-like (ATXN3L), mRNA. 234 protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ubiquitin-specific protease activity p.L233I(1) endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 28 GGCGGCTTAGTTCAAGGGCCC 0.423000 51 123 0 0 0.003610 0 0 DTNBP1 84062 broad.mit.edu 37 6 15615601 15615601 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:15615601C>T uc003nbm.3 - 5 574 c.385G>A c.(385-387)Gag>Aag p.E129K DTNBP1_uc003nbl.3_Missense_Mutation_p.E48K|DTNBP1_uc010jph.3_Missense_Mutation_p.E116K|DTNBP1_uc003nbp.3_Missense_Mutation_p.E129K NM_032122 NP_115498 Q96EV8 DTBP1_HUMAN Homo sapiens dystrobrevin binding protein 1 (DTNBP1), transcript variant 1, mRNA. 129 actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway BLOC-1 complex|axon part|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome identical protein binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2) 14 Breast(50;0.0289)|Ovarian(93;0.103) all_hematologic(90;0.0895) Epithelial(50;0.211) AGGTTGTTCTCTACCTCCTCA 0.368000 Hermansky-Pudlak syndrome 57 17 0 0 0.007413 0 0 ZNF525 170958 broad.mit.edu 37 19 53884421 53884421 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:53884421C>T uc010eqn.3 + 3 674 c.481C>T c.(481-483)Ctg>Ttg p.L161L ZNF525_uc002qbl.2_Intron|ZNF765_uc010ydx.2_Intron Homo sapiens zinc finger protein 525 (ZNF525), non-coding RNA. endometrium(3)|kidney(3)|lung(3) 9 GGATAATTTTCTGAATTATTC 0.373000 37 17 0 0 0.004007 0 0 NFATC4 4776 broad.mit.edu 37 14 24841745 24841745 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:24841745A>G uc001wpc.3 + 2 1616 c.1295A>G c.(1294-1296)cAc>cGc p.H432R NFATC4_uc010alr.3_Missense_Mutation_p.H495R|NFATC4_uc010tok.2_Missense_Mutation_p.H495R|NFATC4_uc010tol.2_Missense_Mutation_p.H495R|NFATC4_uc010als.2_Missense_Mutation_p.H445R|NFATC4_uc010too.2_Missense_Mutation_p.H445R|NFATC4_uc010tom.2_Missense_Mutation_p.H445R|NFATC4_uc010ton.2_Missense_Mutation_p.H445R|NFATC4_uc010toq.2_Missense_Mutation_p.H464R|NFATC4_uc010alt.3_Missense_Mutation_p.H464R|NFATC4_uc010top.2_Missense_Mutation_p.H464R|NFATC4_uc010alu.3_Missense_Mutation_p.H124R|NFATC4_uc010tor.2_Missense_Mutation_p.H432R|NFATC4_uc010tos.2_Missense_Mutation_p.H362R|NFATC4_uc010tot.2_Missense_Mutation_p.H420R|NFATC4_uc010tou.2_Missense_Mutation_p.H362R|NFATC4_uc010tov.2_Missense_Mutation_p.H420R|NFATC4_uc010tow.2_Missense_Mutation_p.H362R|NFATC4_uc010alv.3_Missense_Mutation_p.H420R|NFATC4_uc010tox.2_Missense_Mutation_p.H362R|NFATC4_uc001wpd.3_5'Flank|NFATC4_uc010toy.2_5'Flank|NFATC4_uc010toz.2_5'Flank|NFATC4_uc010tpa.2_5'Flank|NFATC4_uc010tpb.2_5'Flank NM_004554 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA. 432 RHD. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) CACCGGGCCCACTATGAGACA 0.612000 30 8 0 0 0.004482 0 0 CFH 3075 broad.mit.edu 37 1 196659222 196659222 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:196659222G>A uc001gtj.4 + 8 1429 c.1189G>A c.(1189-1191)Gga>Aga p.G397R CFH_uc021pgt.1_5'UTR|CFH_uc001gti.4_Missense_Mutation_p.G397R|CFH_uc009wyw.3_Missense_Mutation_p.G372R|CFH_uc009wyx.3_Missense_Mutation_p.G333R NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 397 Sushi 7. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTTGGAAAATGGATATAATCA 0.328000 14 4 0 0 0.000248 0 0 POLR3A 11128 broad.mit.edu 37 10 79785850 79785850 + Splice_Site SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:79785850A>C uc001jzn.3 - 2 313 c.180_splice c.e2+1 p.M60_splice NM_007055 NP_008986 O14802 RPC1_HUMAN Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA. 60 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 DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095) Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646) AGGGGGCCTTACCATCCTATG 0.537000 40 17 0 0 0.001882 0 0 ZNF470 388566 broad.mit.edu 37 19 57089815 57089815 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:57089815G>A uc002qnl.4 + 5 2694 c.2018G>A c.(2017-2019)gGa>gAa p.G673E ZNF470_uc010etn.3_Intron NM_001001668 NP_001001668 Q6ECI4 ZN470_HUMAN Homo sapiens zinc finger protein 470 (ZNF470), mRNA. 673 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 41 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0294) ATTCATACTGGAGAAAGGCCC 0.423000 31 10 0 0 0.000978 0 0 COL5A3 50509 broad.mit.edu 37 19 10084245 10084245 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:10084245C>T uc002mmq.1 - 50 3752 c.3666_splice c.e50+1 p.P1222_splice NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1222 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.?(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) CAGTCACTCACCGGGATGCCT 0.622000 24 17 0 0 0.001216 0 0 TRPM3 80036 broad.mit.edu 37 9 73150892 73150892 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:73150892T>C uc004aid.3 - 24 5345 c.5101A>G c.(5101-5103)Agc>Ggc p.S1701G TRPM3_uc004ahu.3_Missense_Mutation_p.S1543G|TRPM3_uc004ahv.3_Missense_Mutation_p.S1503G|TRPM3_uc004ahw.3_Missense_Mutation_p.S1573G|TRPM3_uc004ahx.3_Missense_Mutation_p.S1560G|TRPM3_uc004ahy.3_Missense_Mutation_p.S1563G|TRPM3_uc004ahz.3_Missense_Mutation_p.S1550G|TRPM3_uc004aia.3_Missense_Mutation_p.S1548G|TRPM3_uc004aib.3_Missense_Mutation_p.S1538G|TRPM3_uc004aic.3_Intron NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 1726 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 CTTTCAAAGCTTTGGAAAGCC 0.507000 74 26 0 0 0.004656 0 0 MAMDC2 256691 broad.mit.edu 37 9 72840934 72840934 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:72840934G>A uc004ahm.2 + 13 2664 c.2047G>A c.(2047-2049)Gaa>Aaa p.E683K MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507299_uc004ahq.1_Intron|LOC100507299_uc022bhz.1_Intron NM_153267 NP_694999 Q7Z304 MAMC2_HUMAN Homo sapiens MAM domain containing 2 (MAMDC2), mRNA. 683 endoplasmic reticulum|membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 14 GGACTTAAATGAAATTGAGTA 0.299000 50 12 0 0 0.003163 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724037 7724037 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:7724037C>T uc001aoi.3 + 8 1637 c.1430C>T c.(1429-1431)cCa>cTa p.P477L NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) CGGAAGATTCCAGAAACCACC 0.597000 T WWTR1 epitheliod hemangioendothelioma 38 14 0 0 0.004007 0 0 PITPNM1 9600 broad.mit.edu 37 11 67262362 67262362 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:67262362G>A uc001olx.3 - 16 2886 c.2697C>T c.(2695-2697)ttC>ttT p.F899F PITPNM1_uc001olw.3_Silent_p.F181F|PITPNM1_uc001oly.3_Silent_p.F899F|PITPNM1_uc001olz.3_Silent_p.F898F NM_004910 NP_004901 O00562 PITM1_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA. 899 brain development|lipid metabolic process|phototransduction|protein transport Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 TCTCCCTGGGGAAGGCCGGGC 0.672000 54 39 0 0 0.002522 0 0 GYS1 2997 broad.mit.edu 37 19 49473059 49473059 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49473059G>A uc002plp.3 - 14 2104 c.1863C>T c.(1861-1863)ttC>ttT p.F621F GYS1_uc010emm.3_Silent_p.F557F|GYS1_uc010xzz.2_Silent_p.F541F NM_002103 NP_002094 P13807 GYS1_HUMAN Homo sapiens glycogen synthase 1 (muscle) (GYS1), transcript variant 1, mRNA. 621 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) GCTCGTAGGTGAAGTGCTCTG 0.622000 23 15 0 0 0.004990 0 0 FPR3 2359 broad.mit.edu 37 19 52327119 52327119 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:52327119G>A uc002pxt.1 + 1 302 c.118G>A c.(118-120)Ggg>Agg p.G40R FPR3_uc021uyq.1_Missense_Mutation_p.G40R NM_002030 NP_002021 P25089 FPR3_HUMAN Homo sapiens formyl peptide receptor 3 (FPR3), mRNA. 40 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity p.F39F(1) NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 CTTTGTCTTCGGGGTCCTGGG 0.552000 51 22 0 0 0.002299 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64627614 64627614 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:64627614C>T uc003dmg.3 - 11 1798 c.1766G>A c.(1765-1767)gGa>gAa p.G589E ADAMTS9_uc011bfo.2_Missense_Mutation_p.G561E|ADAMTS9_uc003dmh.1_Missense_Mutation_p.G418E|ADAMTS9_uc003dmk.1_Missense_Mutation_p.G589E NM_182920 NP_891550 Q9P2N4 ATS9_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA. 589 TSP type-1 1. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TCCCCAGGATCCATCTGTCAC 0.493000 266 92 0 0 0.003610 0 0 RYR2 6262 broad.mit.edu 37 1 237947468 237947468 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237947468C>T uc001hyl.1 + 89 12576 c.12456C>T c.(12454-12456)atC>atT p.I4152I RYR2_uc010pya.2_Silent_p.I567I NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 4152 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATTTTGAAATCAGTGAGTCCA 0.502000 39 26 0 0 0.002445 0 0 SLC9A4 389015 broad.mit.edu 37 2 103120161 103120161 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:103120161C>T uc002tbz.4 + 2 1432 c.975C>T c.(973-975)atC>atT p.I325I NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 325 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 TCTCCGGCATCCTGGCGTGAG 0.433000 44 19 0 0 0.001882 0 0 SAMD12 401474 broad.mit.edu 37 8 119391936 119391936 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:119391936C>T uc003yom.2 - 3 455 c.326G>A c.(325-327)cGa>cAa p.R109Q SAMD12_uc010mda.1_Missense_Mutation_p.R109Q|SAMD12_uc010mdb.1_Non-coding_Transcript NM_207506 NP_997389 Q8N8I0 SAM12_HUMAN Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA. 109 SAM. endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2) 9 all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249) STAD - Stomach adenocarcinoma(47;0.00391) CAGCAGGGCTCGCCCTGCAGG 0.478000 43 23 0 0 0.006320 0 0 OR4A15 81328 broad.mit.edu 37 11 55135918 55135918 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55135918C>T uc010rif.2 + 0 559 c.559C>T c.(559-561)Caa>Taa p.Q187* NM_001005275 NP_001005275 Q8NGL6 O4A15_HUMAN Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA. 187 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 CTCATTGGTTCAATTTCTCTT 0.423000 79 35 0 0 0.004289 0 0 OR6C2 341416 broad.mit.edu 37 12 55846588 55846588 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:55846588T>C uc001sgz.1 + 0 591 c.591T>C c.(589-591)gtT>gtC p.V197V NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AACAGATGGTTATACTTATGG 0.403000 61 34 0 0 0.004289 0 0 C1orf94 84970 broad.mit.edu 37 1 34677852 34677852 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:34677852C>T uc001bxt.3 + 5 2404 c.1566C>T c.(1564-1566)ttC>ttT p.F522F C1orf94_uc001bxs.4_Silent_p.F332F NM_001134734 NP_116273 Q6P1W5 CA094_HUMAN Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA. 332 protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2) 32 Myeloproliferative disorder(586;0.0393) AGCAGATCTTCCGCTCTTCCT 0.557000 31 16 0 0 0.001216 0 0 PLRG1 5356 broad.mit.edu 37 4 155467365 155467365 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:155467365C>T uc003iny.3 - 5 439 c.314_splice c.e5-1 p.G105_splice PLRG1_uc003inz.3_Splice_Site_p.G96_splice|PLRG1_uc011cil.2_Intron NM_002669 NP_002660 O43660 PLRG1_HUMAN Homo sapiens pleiotropic regulator 1 (PLRG1), transcript variant 1, mRNA. 105 catalytic step 2 spliceosome|nuclear speck protein binding|signal transducer activity|transcription corepressor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1) 22 all_hematologic(180;0.215) Renal(120;0.0854) CAAAGCAACCCCTATTAAAAT 0.348000 15 7 0 0 0.003080 0 0 PSKH2 85481 broad.mit.edu 37 8 87076519 87076519 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:87076519G>A uc011lfy.2 - 1 527 c.527C>T c.(526-528)gCg>gTg p.A176V NM_033126 NP_149117 Q96QS6 KPSH2_HUMAN Homo sapiens protein serine kinase H2 (PSKH2), mRNA. 176 Protein kinase. A -> S (in dbSNP:rs6998760). ATP binding|protein serine/threonine kinase activity p.A176S(1) NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1) 47 STAD - Stomach adenocarcinoma(118;0.129) TATCTGCAGCGCATGCAAATA 0.443000 34 21 0 0 0.002299 0 0 IL17RD 54756 broad.mit.edu 37 3 57131690 57131690 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:57131690C>T uc003dil.3 - 11 2130 c.2041G>A c.(2041-2043)Gga>Aga p.G681R IL17RD_uc003dik.3_Missense_Mutation_p.G657R|IL17RD_uc010hna.3_Missense_Mutation_p.G537R|IL17RD_uc011bex.1_Missense_Mutation_p.G537R NM_017563 NP_060033 Q8NFM7 I17RD_HUMAN Homo sapiens interleukin 17 receptor D (IL17RD), mRNA. 681 Golgi membrane|integral to membrane|plasma membrane receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1) 16 KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204) GTCGAGAGTCCTTCCATCAGT 0.622000 2 5 0 0 0.001984 0 0 SEMA5B 54437 broad.mit.edu 37 3 122645474 122645475 + Silent DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:122645474_122645475GG>AA uc003efz.1 - 8 1204_1205 c.900_901CC>TT c.(898-903)ttcctg>ttTTtg p.300_301FL>FL SEMA5B_uc011bju.1_Silent_p.242_243FL>FL|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Silent_p.300_301FL>FL|SEMA5B_uc010hro.1_Silent_p.242_243FL>FL|SEMA5B_uc010hrp.1_Non-coding_Transcript NM_001031702 NP_001026872 Q9P283 SEM5B_HUMAN Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA. 300 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) TTCTCCCGCAGGAAGAAGTATG 0.609000 12 4 0 0 0.004672 0 0 CHIA 27159 broad.mit.edu 37 1 111854318 111854318 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:111854318C>T uc001eas.3 + 2 190 c.33C>T c.(31-33)gtC>gtT p.V11V CHIA_uc001ear.3_Intron|CHIA_uc001eaq.3_5'UTR|CHIA_uc009wgc.3_5'UTR|CHIA_uc001eat.3_Intron|CHIA_uc001eav.3_5'UTR|CHIA_uc001eau.3_5'UTR|CHIA_uc009wgd.3_5'UTR NM_201653 NP_068569 Q9BZP6 CHIA_HUMAN Homo sapiens chitinase, acidic (CHIA), transcript variant 4, mRNA. 11 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding p.T10I(1)|p.F11S(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) CAGGTCTTGTCCTTATACTGA 0.383000 78 36 0 0 0.007835 0 0 SLC5A5 6528 broad.mit.edu 37 19 18004596 18004596 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:18004596C>T uc002nhr.4 + 14 2189 c.1842C>T c.(1840-1842)ttC>ttT p.F614F NM_000453 NP_000444 Q92911 SC5A5_HUMAN Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA. 614 cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process integral to membrane|nucleus|plasma membrane iodide transmembrane transporter activity|sodium:iodide symporter activity NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 GTCTGTTTTTCTTGGGGCAGA 0.577000 2 7 0 0 0.003080 0 0 ROBO1 6091 broad.mit.edu 37 3 78667166 78667166 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:78667166G>A uc003dqe.2 - 26 4109 c.3901C>T c.(3901-3903)Cca>Tca p.P1301S ROBO1_uc003dqc.2_Missense_Mutation_p.P1201S|ROBO1_uc003dqd.2_Missense_Mutation_p.P1256S|ROBO1_uc003dqb.2_Missense_Mutation_p.P1262S|ROBO1_uc010hoh.2_Missense_Mutation_p.P493S|ROBO1_uc011bgl.1_Missense_Mutation_p.P873S NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA. 1301 Roundabout signaling pathway|activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis cell surface|cytoplasm|integral to plasma membrane LRR domain binding|axon guidance receptor activity|identical protein binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) GGCCGTGGTGGTGGAGGAGGA 0.478000 25 8 0 0 0.006214 0 0 DENND1B 163486 broad.mit.edu 37 1 197522237 197522237 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197522237G>A uc021pgu.1 - 15 1493 c.1155C>T c.(1153-1155)atC>atT p.I385I DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Silent_p.I385I|DENND1B_uc001gue.3_Silent_p.I355I NM_001195215 NP_001182144 Q6P3S1 DEN1B_HUMAN Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA. 385 dDENN. clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 22 GTCGACCATCGATAAACTAGA 0.303000 24 9 0 0 0.006214 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117789427 117789427 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:117789427G>A uc001prs.2 - 1 294 c.148C>T c.(148-150)Cct>Tct p.P50S TMPRSS13_uc009yzr.2_Missense_Mutation_p.P50S|TMPRSS13_uc021qrc.1_Missense_Mutation_p.P50S|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.P50S NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA. 50 12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CGGCCCGGAGGTGTCCCAGCT 0.682000 14 11 0 0 0.000673 0 0 SIGLEC14 100049587 broad.mit.edu 37 19 52149079 52149079 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:52149079C>T uc002pxf.4 - 2 776 c.656G>A c.(655-657)gGa>gAa p.G219E NM_001098612 NP_001092082 Q08ET2 SIG14_HUMAN Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA. 219 Ig-like C2-type 1. cell adhesion integral to membrane|plasma membrane protein binding|sugar binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195) CACCTGAGCTCCTTGGCGTTT 0.647000 17 16 0 0 0.002299 0 0 CDC42BPB 9578 broad.mit.edu 37 14 103465993 103465993 + Nonsense_Mutation SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:103465993C>A uc001ymi.1 - 4 737 c.505G>T c.(505-507)Gaa>Taa p.E169* NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA. 169 Protein kinase. actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1) 49 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) AGCTTGTCTTCAAATTTGCTG 0.453000 13 18 6.49762e-13 8.13368e-13 0.006122 1 0 LPHN3 23284 broad.mit.edu 37 4 62897274 62897274 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:62897274C>T uc010ihh.3 + 19 3506 c.3333C>T c.(3331-3333)ttC>ttT p.F1111F LPHN3_uc003hcq.4_Silent_p.F1111F|LPHN3_uc003hct.3_Silent_p.F495F NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 1089 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TCACCATTTTCAATTCTCTAC 0.348000 40 25 0 0 0.003954 0 0 CUEDC2 79004 broad.mit.edu 37 10 104183554 104183554 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104183554C>T uc001kvn.2 - 7 807 c.656_splice c.e7+1 p.K219_splice CUEDC2_uc001kvm.2_5'Flank NM_024040 NP_076945 Q9H467 CUED2_HUMAN Homo sapiens CUE domain containing 2 (CUEDC2), mRNA. 219 cytoplasm|nucleus protein binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.122) Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215) cccagACTCACTTCTGCAGGA 0.612000 21 17 0 0 0.004007 0 0 ARID5A 10865 broad.mit.edu 37 2 97215195 97215195 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:97215195G>A uc002swe.3 + 3 359 c.259_splice c.e3+1 p.I87_splice ARID5A_uc010yuq.2_Splice_Site|ARID5A_uc002swf.3_Intron|ARID5A_uc002swg.3_Intron NM_212481 NP_997646 Q03989 ARI5A_HUMAN Homo sapiens AT rich interactive domain 5A (MRF1-like) (ARID5A), mRNA. 87 ARID. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 GCTTCAAGCAGAGTGCGTCCC 0.677000 40 14 0 0 0.004007 0 0 ZNF14 7561 broad.mit.edu 37 19 19822381 19822381 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:19822381G>A uc002nnk.1 - 3 1863 c.1709C>T c.(1708-1710)tCt>tTt p.S570F NM_021030 NP_066358 P17017 ZNF14_HUMAN Homo sapiens zinc finger protein 14 (ZNF14), mRNA. 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 32 Renal(1328;0.0474) TTTACTGGAAGAAATGAAGGC 0.418000 16 16 0 0 0.003163 0 0 DOCK2 1794 broad.mit.edu 37 5 169494601 169494601 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:169494601G>A uc003maf.3 + 44 4635 c.4555G>A c.(4555-4557)Gat>Aat p.D1519N DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.D1011N|DOCK2_uc003mah.3_Missense_Mutation_p.D75N NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1519 DHR-2. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTACCAGAGTGATGAGACCCT 0.493000 14 26 0 0 0.005443 0 0 MCTP1 79772 broad.mit.edu 37 5 94230531 94230531 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:94230531G>A uc003kkx.2 - 10 1662 c.1662C>T c.(1660-1662)gtC>gtT p.V554V MCTP1_uc003kkv.2_Silent_p.V333V|MCTP1_uc003kkw.2_Silent_p.V287V|MCTP1_uc003kkz.2_Silent_p.V215V|MCTP1_uc003kku.2_Silent_p.V70V NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 554 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTGACAGGTCGACCTGGCACC 0.468000 5 12 0 0 0.001368 0 0 BC063132 0 broad.mit.edu 37 GL000241.1 25498 25498 + RNA SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrGL000241.1:25498G>A uc011mgv.2 - 3 c.494C>T Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors. GGAGCTCCCAGGGTAAAAAGA 0.423000 181 26 0 0 0.007291 0 0 LRP1B 53353 broad.mit.edu 37 2 141108405 141108405 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:141108405G>A uc002tvj.1 - 76 12825 c.11853C>T c.(11851-11853)atC>atT p.I3951I NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA. 3951 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.R3950M(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CTCTGCCATGGATCCTTTTGT 0.343000 TSP Lung(27;0.18) 28 9 0 0 0.004482 0 0 CRB1 23418 broad.mit.edu 37 1 197297627 197297627 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197297627C>T uc001gtz.3 + 1 355 c.146C>T c.(145-147)tCa>tTa p.S49L CRB1_uc010poz.2_5'UTR|CRB1_uc001gty.2_Missense_Mutation_p.S49L|CRB1_uc009wza.3_Missense_Mutation_p.S49L|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.S49L NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 49 EGF-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 AAAGATTTTTCAAAAGACAAT 0.363000 19 15 0 0 0.002450 0 0 PCCB 5096 broad.mit.edu 37 3 136048787 136048787 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:136048787C>T uc011bmc.2 + 15 1650 c.1599C>T c.(1597-1599)gcC>gcT p.A533A PCCB_uc003eqz.1_Silent_p.A513A|PCCB_uc003eqy.2_Silent_p.A513A NM_001178014 NP_001171485 P05166 PCCB_HUMAN Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. 513 fatty acid beta-oxidation mitochondrial matrix ATP binding|propionyl-CoA carboxylase activity p.R529_K533delRPWRK(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 25 Biotin(DB00121)|L-Valine(DB00161) CCACACGTGCCCGAATCTGCT 0.468000 44 19 0 0 0.001882 0 0 TMTC3 160418 broad.mit.edu 37 12 88589038 88589038 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:88589038A>G uc001tau.3 + 13 2577 c.2357A>G c.(2356-2358)gAc>gGc p.D786G NM_181783 NP_861448 Q6ZXV5 TMTC3_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA. 787 integral to membrane binding NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1) 31 GAAGAAAAAGACTTATTAAAA 0.343000 36 24 0 0 0.003330 0 0 KIAA1653 0 broad.mit.edu 37 22 20294298 20294298 + RNA SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:20294298T>C uc002zrw.1 + 0 c.2738T>C Homo sapiens mRNA for KIAA1653 protein, partial cds. GCAGCGGAAGTTCAATGTGGA 0.607000 34 18 0 0 0.007413 0 0 THBS3 7059 broad.mit.edu 37 1 155166889 155166889 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:155166889C>T uc001fix.3 - 20 2720 c.2615G>A c.(2614-2616)cGg>cAg p.R872Q THBS3_uc021pat.1_Missense_Mutation_p.R269Q|THBS3_uc010pfu.2_Missense_Mutation_p.R752Q|THBS3_uc009wqi.3_Missense_Mutation_p.R863Q|THBS3_uc001fiy.3_Missense_Mutation_p.R401Q NM_007112 NP_009043 P49746 TSP3_HUMAN Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA. 872 TSP C-terminal. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) GGTCTTGTCCCGCCAGCCCAC 0.622000 31 24 0 0 0.003330 0 0 EIF4ENIF1 56478 broad.mit.edu 37 22 31851278 31851278 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:31851278G>A uc003akz.2 - 8 1321 c.1123C>T c.(1123-1125)Cct>Tct p.P375S EIF4ENIF1_uc003akx.2_Missense_Mutation_p.P54S|EIF4ENIF1_uc003aky.2_Missense_Mutation_p.P54S|EIF4ENIF1_uc003ala.2_Missense_Mutation_p.P375S|EIF4ENIF1_uc003alb.2_Missense_Mutation_p.P212S NM_001164501 NP_062817 Q9NRA8 4ET_HUMAN Homo sapiens eukaryotic translation initiation factor 4E nuclear import factor 1 (EIF4ENIF1), transcript variant 2, mRNA. 375 nucleus protein binding|protein transporter activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTCTGTCCAGGAGAGAGGATG 0.383000 29 10 0 0 0.001855 0 0 PTPRD 5789 broad.mit.edu 37 9 8375969 8375969 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:8375969G>A uc003zkk.3 - 38 5371 c.4628C>T c.(4627-4629)cCt>cTt p.P1543L PTPRD_uc003zkp.3_Missense_Mutation_p.P1137L|PTPRD_uc003zkq.3_Missense_Mutation_p.P1136L|PTPRD_uc003zkr.3_Missense_Mutation_p.P1127L|PTPRD_uc003zks.3_Missense_Mutation_p.P1136L|PTPRD_uc022bdj.1_Missense_Mutation_p.P1133L NM_002839 NP_002830 P23468 PTPRD_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA. 1543 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) AGCATCGGGAGGGTTACAGGT 0.468000 TSP Lung(15;0.13) 18 22 0 0 0.002780 0 0 TMCO4 255104 broad.mit.edu 37 1 20066335 20066335 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:20066335G>A uc001bcn.3 - 11 1403 c.1161C>T c.(1159-1161)atC>atT p.I387I TMCO4_uc001bco.1_Silent_p.I387I|TMCO4_uc001bcp.1_Silent_p.I347I NM_181719 NP_859070 Q5TGY1 TMCO4_HUMAN Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA. 387 integral to membrane biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1) 19 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223) GGGAGAGCAGGATGTGGGCCA 0.592000 31 15 0 0 0.002450 0 0 GPATCH3 63906 broad.mit.edu 37 1 27223982 27223982 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:27223982G>A uc001bne.3 - 1 715 c.686C>T c.(685-687)tCc>tTc p.S229F BC016143_uc021ojq.1_Intron|GPATCH3_uc009vsp.2_Missense_Mutation_p.S40F NM_022078 NP_071361 Q96I76 GPTC3_HUMAN Homo sapiens G patch domain containing 3 (GPATCH3), mRNA. 229 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GTAGCGCCGGGAGGAACCTGT 0.577000 69 31 0 0 0.002096 0 0 TUBAL3 79861 broad.mit.edu 37 10 5436106 5436106 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:5436106C>T uc001ihy.3 - 3 753 c.715G>A c.(715-717)Gtt>Att p.V239I TUBAL3_uc001ihz.3_Missense_Mutation_p.V199I NM_024803 NP_079079 A6NHL2 TBAL3_HUMAN Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA. 239 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 ACCACCTGAACCACCAATCTA 0.488000 33 24 0 0 0.002299 0 0 CRB1 23418 broad.mit.edu 37 1 197396999 197396999 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197396999C>T uc001gtz.3 + 6 2753 c.2544C>T c.(2542-2544)ttC>ttT p.F848F CRB1_uc010poz.2_Silent_p.F779F|CRB1_uc009wza.3_Silent_p.F736F|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.F329F|CRB1_uc001gub.1_Silent_p.F497F NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 848 Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 GTGGATTCTTCAAAGGCTGTA 0.383000 23 11 0 0 0.001855 0 0 MAEL 84944 broad.mit.edu 37 1 166959060 166959060 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:166959060G>A uc001gdy.1 + 1 290 c.219G>A c.(217-219)gaG>gaA p.E73E MAEL_uc021peh.1_Silent_p.E17E|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank NM_032858 NP_116247 Q96JY0 MAEL_HUMAN Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA. 73 DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis piP-body DNA binding breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4) 28 GGCCCTCAGAGAAGCAGGTAA 0.512000 35 8 0 0 0.003080 0 0 CCDC13 152206 broad.mit.edu 37 3 42781285 42781285 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:42781285C>T uc003cly.4 - 8 1089 c.1005G>A c.(1003-1005)cgG>cgA p.R335R NM_144719 NP_653320 Q8IYE1 CCD13_HUMAN Homo sapiens coiled-coil domain containing 13 (CCDC13), mRNA. 335 endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 25 GGAGGACATCCCGTTCACTGG 0.522000 39 21 0 0 0.001882 0 0 ERAL1 26284 broad.mit.edu 37 17 27182104 27182104 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:27182104G>A uc002hcy.1 + 0 62 c.52G>A c.(52-54)Gtc>Atc p.V18I ERAL1_uc002hcx.1_Missense_Mutation_p.V18I|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank NM_005702 NP_005693 O75616 ERAL1_HUMAN Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA. 18 RV -> KI (in Ref. 3; AAG12978). ribosomal small subunit assembly mitochondrial inner membrane|mitochondrial matrix GTP binding|rRNA binding|ribosomal small subunit binding endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2) 11 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105) GGTGTTAAGAGTCTGGCAGGT 0.637000 11 13 0 0 0.001855 0 0 KIAA1274 27143 broad.mit.edu 37 10 72298880 72298880 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:72298880C>T uc001jrd.4 + 13 1883 c.1602C>T c.(1600-1602)gaC>gaT p.D534D KIAA1274_uc001jre.4_5'Flank NM_014431 NP_055246 Q9ULE6 PALD_HUMAN Homo sapiens KIAA1274 (KIAA1274), mRNA. 534 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1) 36 ACCTGACGGACGCCAAGAGGA 0.697000 11 9 0 0 0.004482 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536663 90536663 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:90536663C>T uc010mqi.3 + 3 1870 c.1841C>T c.(1840-1842)cCc>cTc p.P614L FAM75C1_uc004apq.4_Missense_Mutation_p.P597L NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. CAGGCTTTTCCCGTATCCAAC 0.542000 69 47 0 0 0.003610 0 0 ATP8A1 10396 broad.mit.edu 37 4 42558049 42558049 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:42558049G>A uc003gwr.2 - 15 1581 c.1349C>T c.(1348-1350)tCa>tTa p.S450L ATP8A1_uc003gws.2_Missense_Mutation_p.S435L|ATP8A1_uc011byz.1_Missense_Mutation_p.S435L NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA. 450 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TCCAAACTGTGAGTTCTGCCT 0.328000 12 7 0 0 0.001984 0 0 FAM9C 171484 broad.mit.edu 37 X 13061897 13061897 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:13061897C>T uc004cvh.2 - 1 339 c.12G>A c.(10-12)aaG>aaA p.K4K FAM9C_uc004cvg.3_Silent_p.K4K NM_174901 NP_777561 Q8IZT9 FAM9C_HUMAN Homo sapiens family with sequence similarity 9, member C (FAM9C), mRNA. 4 nucleus NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1) 5 CCAACTGGTCCTTGGCAGCCA 0.592000 2 7 0 0 0.003080 0 0 GEM 2669 broad.mit.edu 37 8 95264276 95264276 + Nonsense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:95264276A>C uc003ygi.3 - 3 708 c.584T>G c.(583-585)tTa>tGa p.L195* GEM_uc003ygj.3_Nonsense_Mutation_p.L195* NM_181702 NP_859053 P55040 GEM_HUMAN Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA. 195 cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction internal side of plasma membrane GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 22 Breast(36;4.65e-06) Myeloproliferative disorder(644;0.204) BRCA - Breast invasive adenocarcinoma(8;0.00691) GCACCGCACTAAGTCACTTTT 0.517000 16 32 0 0 0.006999 0 0 PRSS1 5644 broad.mit.edu 37 7 142459670 142459670 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:142459670G>A uc003wak.2 + 2 263 c.246G>A c.(244-246)gaG>gaA p.E82E TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.E22E NM_002769 NP_002760 P07477 TRY1_HUMAN Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA. 82 Peptidase S1. digestion|proteolysis extracellular space metal ion binding|protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2) 38 Melanoma(164;0.047) all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165) all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189) AAGTCCTGGAGGGGAATGAGC 0.542000 122 8 0 0 0.006214 0 0 USP40 55230 broad.mit.edu 37 2 234460057 234460057 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234460057G>A uc010zmr.2 - 5 838 c.838C>T c.(838-840)Cct>Tct p.P280S USP40_uc010zmt.1_5'Flank|USP40_uc010zmu.1_Missense_Mutation_p.P268S NM_018218 NP_060688 Q9NVE5 UBP40_HUMAN Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA. 268 CEQSELDDLEYIYDLFSVIIHKGGCYGGHYHVYIKDVDHLG N -> FFSFNQKMHNVCVNRRYGGSGMPLLRCGRCVGSAQP LSSVFR (in Ref. 4; AAH67300). ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) ATCCGGAGAGGGAATGTATAA 0.338000 13 7 0 0 0.004482 0 0 TLL1 7092 broad.mit.edu 37 4 166963230 166963230 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:166963230G>A uc003irh.2 + 10 1960 c.1313G>A c.(1312-1314)aGa>aAa p.R438K TLL1_uc011cjn.2_Missense_Mutation_p.R438K|TLL1_uc011cjo.2_Missense_Mutation_p.R262K NM_012464 NP_036596 O43897 TLL1_HUMAN Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA. 438 CUB 1. cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding p.S437_R438delSR(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) ACAGACAGCAGAATGTGGATT 0.368000 56 12 0 0 0.004007 0 0 MPDZ 8777 broad.mit.edu 37 9 13119586 13119586 + Missense_Mutation SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:13119586C>G uc010mia.1 - 37 5351 c.5294G>C c.(5293-5295)aGa>aCa p.R1765T MPDZ_uc003zkx.4_Missense_Mutation_p.R30T|MPDZ_uc003zky.4_Missense_Mutation_p.R299T|MPDZ_uc010mib.3_Missense_Mutation_p.R470T|MPDZ_uc010mhx.3_Missense_Mutation_p.R587T|MPDZ_uc011lmm.2_Missense_Mutation_p.R624T|MPDZ_uc003zkz.4_Missense_Mutation_p.R458T|MPDZ_uc010mhz.3_Missense_Mutation_p.R1732T|MPDZ_uc011lmn.2_Missense_Mutation_p.R1732T|MPDZ_uc010mhy.3_Missense_Mutation_p.R1765T|MPDZ_uc003zlb.4_Missense_Mutation_p.R1765T NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1765 PDZ 11. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) CTGCATCAGTCTTCCATCGGC 0.413000 26 29 0 0 0.001786 0 0 SLC9B1 150159 broad.mit.edu 37 4 103822358 103822358 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:103822358C>T uc003hww.3 - 11 1606 c.1464G>A c.(1462-1464)atG>atA p.M488I SLC9B1_uc003hwu.3_Intron|SLC9B1_uc010ilm.3_Intron|SLC9B1_uc003hwv.3_Intron|SLC9B1_uc011cev.2_Missense_Mutation_p.M261I NM_139173 NP_631912 Q4ZJI4 NHDC1_HUMAN Homo sapiens solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 (SLC9B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 488 integral to membrane solute:hydrogen antiporter activity CCAGAATGCCCATAAGTAGAG 0.418000 152 6 0 0 0.003080 0 0 DYSF 8291 broad.mit.edu 37 2 71730418 71730418 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:71730418C>T uc010fen.3 + 3 455 c.314C>T c.(313-315)cCc>cTc p.P105L DYSF_uc010fei.3_Missense_Mutation_p.P104L|DYSF_uc010feh.3_Missense_Mutation_p.P104L|DYSF_uc002sig.4_Missense_Mutation_p.P104L|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P104L|DYSF_uc010fee.3_Missense_Mutation_p.P104L|DYSF_uc010fef.3_Missense_Mutation_p.P104L|DYSF_uc002sie.3_Missense_Mutation_p.P104L|DYSF_uc010feo.3_Missense_Mutation_p.P105L|DYSF_uc010fej.3_Missense_Mutation_p.P105L|DYSF_uc010fel.3_Missense_Mutation_p.P105L|DYSF_uc010fem.3_Missense_Mutation_p.P105L|DYSF_uc002sif.3_Missense_Mutation_p.P105L|DYSF_uc010fek.3_Missense_Mutation_p.P105L NM_001130987 NP_001124459 O75923 DYSF_HUMAN Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA. 104 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding p.L105fs*43(1) autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 TTCAATGCCCCCCTGCTGGAC 0.592000 49 21 0 0 0.001523 0 0 TP53BP1 7158 broad.mit.edu 37 15 43720298 43720298 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43720298G>A uc001zrs.3 - 17 3877 c.3729C>T c.(3727-3729)atC>atT p.I1243I TP53BP1_uc010udp.2_Silent_p.I1243I|TP53BP1_uc001zrq.4_Silent_p.I1248I|TP53BP1_uc001zrr.4_Silent_p.I1248I|TP53BP1_uc010udq.1_Silent_p.I1248I NM_005657 NP_005648 Q12888 TP53B_HUMAN Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA. 1243 double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter condensed chromosome kinetochore|cytoplasm|nucleoplasm RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity|p53 binding breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3) 72 all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;1.59e-06) GTACTTCCCGGATTGTTCTCA 0.423000 Other conserved DNA damage response genes 70 37 0 0 0.004878 0 0 GPR162 27239 broad.mit.edu 37 12 6933459 6933459 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:6933459A>G uc001qqw.1 + 1 930 c.395A>G c.(394-396)aAg>aGg p.K132R GPR162_uc010sfn.1_Missense_Mutation_p.K132R|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank NM_019858 NP_062832 Q16538 GP162_HUMAN Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA. 132 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 AACGCCAAGAAGCAGGCACTG 0.622000 9 12 0 0 0.001368 0 0 MINK1 50488 broad.mit.edu 37 17 4789256 4789256 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:4789256C>T uc010vsl.2 + 7 934 c.690C>T c.(688-690)gcC>gcT p.A230A MINK1_uc010vsk.2_Silent_p.A230A|MINK1_uc010vsm.2_Silent_p.A230A|MINK1_uc010vsn.2_Silent_p.A230A|MINK1_uc010vso.2_Silent_p.A175A|MINK1_uc010vsp.2_5'UTR NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 230 Protein kinase. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 CAGAGGGAGCCCCCCGTAAGT 0.567000 7 9 0 0 0.000673 0 0 BCL2L13 23786 broad.mit.edu 37 22 18209980 18209980 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:18209980C>T uc002zmw.3 + 6 1356 c.1138C>T c.(1138-1140)Ctt>Ttt p.L380F BCL2L13_uc002zmx.3_Missense_Mutation_p.L218F|BCL2L13_uc002zmy.3_3'UTR|BCL2L13_uc010gqy.3_Missense_Mutation_p.L218F|BCL2L13_uc011agk.2_Missense_Mutation_p.L256F|BCL2L13_uc010gqz.3_Missense_Mutation_p.L100F|BCL2L13_uc002zmz.3_Missense_Mutation_p.L218F|BCL2L13_uc002zna.3_Missense_Mutation_p.L100F NM_015367 NP_056182 Q9BXK5 B2L13_HUMAN Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA. 380 Glu-rich. induction of apoptosis integral to membrane|mitochondrial membrane|nucleus caspase activator activity breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2) 15 all_epithelial(15;0.123) Lung(27;0.199) GTTTGTAGAACTTGATGAAGA 0.512000 41 24 0 0 0.002299 0 0 ZNF19 7567 broad.mit.edu 37 16 71509998 71509998 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:71509998A>G uc010cgc.1 - 5 958 c.452T>C c.(451-453)gTt>gCt p.V151A ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Missense_Mutation_p.V139A|ZNF19_uc002fal.1_Missense_Mutation_p.V139A|ZNF19_uc002fam.1_Missense_Mutation_p.V151A NM_006961 NP_008892 P17023 ZNF19_HUMAN Homo sapiens zinc finger protein 19 (ZNF19), mRNA. 151 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1) 22 Ovarian(137;0.00965) BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598) GATTCTTGGAACCTTTCCTTG 0.458000 16 12 0 0 0.001368 0 0 SI 6476 broad.mit.edu 37 3 164786619 164786619 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:164786619C>T uc003fei.3 - 5 437 c.374_splice c.e5-1 p.G125_splice NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 125 Isomaltase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) GGCTTCAACTCCTTAAAGAAT 0.303000 HNSCC(35;0.089) 34 23 0 0 0.003330 0 0 NIPBL 25836 broad.mit.edu 37 5 36976077 36976077 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:36976077T>C uc003jkl.4 + 8 1567 c.1068T>C c.(1066-1068)acT>acC p.T356T NIPBL_uc003jkk.4_Silent_p.T356T|NIPBL_uc003jkm.1_Silent_p.T235T NM_133433 NP_597677 Q6KC79 NIPBL_HUMAN Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA. 356 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding p.T356I(1) autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGGACTCTACTAAACTTACAT 0.363000 17 16 0 0 0.006122 0 0 EIF5B 9669 broad.mit.edu 37 2 100010788 100010788 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:100010788G>A uc002tab.3 + 18 3123 c.2939G>A c.(2938-2940)gGa>gAa p.G980E EIF5B_uc010yvq.2_5'UTR NM_015904 NP_056988 O60841 IF2P_HUMAN Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA. 980 regulation of translational initiation cytosol GTP binding|GTPase activity|protein binding|translation initiation factor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GAAGAAAAAGGAGTCTATGTC 0.393000 44 30 0 0 0.006320 0 0 ITPR1 3708 broad.mit.edu 37 3 4725191 4725191 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:4725191C>T uc003bqc.3 + 25 3588 c.3238C>T c.(3238-3240)Cgg>Tgg p.R1080W ITPR1_uc021wsi.1_Missense_Mutation_p.R1086W|ITPR1_uc021wsj.1_Missense_Mutation_p.R1071W|ITPR1_uc011asu.2_Intron NM_001168272 NP_001161744 Q14643 ITPR1_HUMAN Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA. 1095 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GCTCCTCTTCCGGCACTTCAG 0.592000 12 23 0 0 0.002780 0 0 HNF1A 6927 broad.mit.edu 37 12 121431395 121431395 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:121431395G>A uc001tzg.3 + 2 622 c.599G>A c.(598-600)cGg>cAg p.R200Q HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.R200Q|HNF1A_uc001tzf.3_Missense_Mutation_p.R200Q|HNF1A_uc010szn.2_Missense_Mutation_p.R200Q|HNF1A_uc021rfa.1_Missense_Mutation_p.R200Q|HNF1A_uc021rfb.1_Missense_Mutation_p.R72Q|HNF1A_uc021rfc.1_Non-coding_Transcript NM_000545 NP_000536 P20823 HNF1A_HUMAN Homo sapiens HNF1 homeobox A (HNF1A), mRNA. 200 R -> W (in MODY3; expected to interfere with nuclear localization). 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|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|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) AAGAAGGGGCGGAGGAACCGT 0.592000 Hepatic Adenoma, Familial Clustering of 214 103 0 0 0.003610 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377919 60377919 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:60377919C>T uc001czq.3 - 2 443 c.438G>A c.(436-438)agG>agA p.R146R NM_000775 NP_000766 P51589 CP2J2_HUMAN Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA. 146 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity p.L145L(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) AACCAAAGTTCCTTAGTGCTG 0.438000 57 21 0 0 0.001523 0 0 OR5D18 219438 broad.mit.edu 37 11 55587751 55587751 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55587751C>T uc010rin.2 + 0 646 c.646C>T c.(646-648)Ctc>Ttc p.L216F NM_001001952 NP_001001952 Q8NGL1 OR5DI_HUMAN Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA. 216 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_epithelial(135;0.208) ACTCATCGTTCTCACATCTTA 0.483000 42 21 0 0 0.003330 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32498788 32498788 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:32498788G>A uc001bub.3 + 4 731 c.625_splice c.e4-1 p.E209_splice KHDRBS1_uc001bua.1_Splice_Site_p.E170_splice|KHDRBS1_uc001buc.1_Splice_Site NM_006559 NP_006550 Q07666 KHDR1_HUMAN Homo sapiens KH domain containing, RNA binding, signal transduction associated 1 (KHDRBS1), mRNA. 209 G2/M transition of mitotic cell cycle|cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) TTTTTCCATAGGAGGAAGAGC 0.458000 21 16 0 0 0.003163 0 0 OR51I1 390063 broad.mit.edu 37 11 5462626 5462626 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:5462626G>A uc010qze.2 - 0 158 c.119C>T c.(118-120)tCc>tTc p.S40F HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005288 NP_001005288 Q9H343 O51I1_HUMAN Homo sapiens olfactory receptor, family 51, subfamily I, member 1 (OR51I1), mRNA. 40 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCTACAATGGAGATCATGTA 0.517000 14 22 0 0 0.003954 0 0 NOTCH3 4854 broad.mit.edu 37 19 15273333 15273333 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15273333C>T uc002nan.3 - 31 5932 c.5856G>A c.(5854-5856)gtG>gtA p.V1952V NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 1952 Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.V1952V(3) breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) AAGTGGCTTCCACGTTGTTCA 0.587000 47 10 0 0 0.001855 0 0 SHROOM3 57619 broad.mit.edu 37 4 77660467 77660467 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:77660467G>A uc011cbx.2 + 4 2094 c.1141G>A c.(1141-1143)Ggt>Agt p.G381S SHROOM3_uc011cbz.1_Missense_Mutation_p.G205S|SHROOM3_uc003hkf.1_Missense_Mutation_p.G256S|SHROOM3_uc003hkg.3_Missense_Mutation_p.G159S NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 381 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) TCCTAAGGTGGGTGCACCCCT 0.617000 22 20 0 0 0.007413 0 0 BCORL1 63035 broad.mit.edu 37 X 129147484 129147484 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:129147484C>T uc022cdu.1 + 2 780 c.736C>T c.(736-738)Cca>Tca p.P246S BCORL1_uc010nrd.1_Missense_Mutation_p.P148S NM_021946 NP_068765 Q5H9F3 BCORL_HUMAN Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA. 246 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 CACTTCGGTTCCAGCTCCTTC 0.617000 13 42 0 0 0.003610 0 0 LRWD1 222229 broad.mit.edu 37 7 102106642 102106642 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:102106642C>T uc003uzn.3 + 2 495 c.357C>T c.(355-357)ctC>ctT p.L119L ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank NM_152892 NP_690852 Q9UFC0 LRWD1_HUMAN Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA. 119 DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin chromatin binding|methyl-CpG binding|methylated histone residue binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2) 20 TGCCCACGCTCCGTAAGGTCA 0.542000 33 24 0 0 0.003954 0 0 DBC1 1620 broad.mit.edu 37 9 122011343 122011343 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:122011343G>A uc004bkc.2 - 2 760 c.304C>T c.(304-306)Caa>Taa p.Q102* DBC1_uc004bkd.2_Nonsense_Mutation_p.Q102* NM_014618 NP_055433 O60477 DBC1_HUMAN Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA. 102 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 ATGCTCCTTTGAAACTCCGGC 0.552000 23 18 0 0 0.006122 0 0 KRTAP13-3 337960 broad.mit.edu 37 21 31797904 31797904 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:31797904G>A uc002yob.1 - 0 327 c.327C>T c.(325-327)tcC>tcT p.S109S NM_181622 NP_853653 Q3SY46 KR133_HUMAN Homo sapiens keratin associated protein 13-3 (KRTAP13-3), mRNA. 109 intermediate filament endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 14 CACAGCTCAGGGAGCAGCAGC 0.517000 16 9 0 0 0.006214 0 0 ATR 545 broad.mit.edu 37 3 142217461 142217461 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:142217461G>A uc003eux.4 - 31 5658 c.5536C>T c.(5536-5538)Cga>Tga p.R1846* NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 1846 FAT. DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TCATATCCTCGTTGGTAGGAG 0.343000 Other conserved DNA damage response genes 20 6 0 0 0.001984 0 0 REG4 83998 broad.mit.edu 37 1 120337285 120337285 + Missense_Mutation SNP C T T rs150927973 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:120337285C>T uc001eig.3 - 6 873 c.433G>A c.(433-435)Gaa>Aaa p.E145K REG4_uc001eif.3_Missense_Mutation_p.E145K NM_001159352 NP_114433 Q9BYZ8 REG4_HUMAN Homo sapiens regenerating islet-derived family, member 4 (REG4), transcript variant 1, mRNA. 145 C-type lectin. extracellular region sugar binding p.E145K(4) central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2) 15 all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959) Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588) TTGTTGCATTCGTTGCTGCTC 0.423000 238 508 0 0 0.003610 0 0 APOBEC3B 9582 broad.mit.edu 37 22 39387460 39387461 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:39387460_39387461CC>TT uc003awo.1 + 5 901_902 c.847_848CC>TT c.(847-849)ccc>TTc p.P283F APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.P258F|APOBEC3B_uc003awq.1_Non-coding_Transcript NM_004900 NP_004891 Q9UH17 ABC3B_HUMAN Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA. 283 negative regulation of transposition RNA binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 13 Melanoma(58;0.04) CTCCTGGAGCCCCTGCTTCTCC 0.594000 42 25 0 0 0.004672 0 0 NXF3 56000 broad.mit.edu 37 X 102338552 102338552 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:102338552G>A uc004eju.3 - 3 491 c.420C>T c.(418-420)ccC>ccT p.P140P NXF3_uc010noi.1_5'UTR|NXF3_uc011mrw.1_Silent_p.P140P|NXF3_uc011mrx.1_Silent_p.P51P NM_022052 NP_071335 Q9H4D5 NXF3_HUMAN Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA. 140 RRM. cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding p.P140T(1) NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 CTGGGACGAAGGGTACACTGC 0.453000 22 50 0 0 0.003610 0 0 QTRTD1 79691 broad.mit.edu 37 3 113795776 113795776 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113795776G>A uc003eaz.3 + 5 855 c.769G>A c.(769-771)Gag>Aag p.E257K QTRTD1_uc003eay.3_Missense_Mutation_p.E245K|QTRTD1_uc011biq.2_Missense_Mutation_p.E122K|QTRTD1_uc011bir.2_Missense_Mutation_p.E139K|QTRTD1_uc003eba.3_Missense_Mutation_p.E122K NM_024638 NP_078914 Q9H974 QTRD1_HUMAN Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA. 245 queuosine biosynthetic process mitochondrion metal ion binding|queuine tRNA-ribosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2) 10 AGAGCTGCCGGAGGACAAGCC 0.542000 21 8 0 0 0.003080 0 0 PCDHB3 56132 broad.mit.edu 37 5 140482336 140482336 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140482336C>T uc003lio.3 + 0 2103 c.2103C>T c.(2101-2103)ttC>ttT p.F701F BC016751_uc003lin.3_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN Homo sapiens protocadherin beta 3 (PCDHB3), mRNA. 701 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTCGCTCTTCCTCTTTTCGG 0.697000 36 56 0 0 0.003610 0 0 C2CD3 26005 broad.mit.edu 37 11 73789508 73789508 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:73789508G>A uc001ouu.2 - 22 4482 c.4255C>T c.(4255-4257)Cat>Tat p.H1419Y C2CD3_uc001out.3_Non-coding_Transcript NM_015531 NP_056346 Q4AC94 C2CD3_HUMAN Homo sapiens C2 calcium-dependent domain containing 3 (C2CD3), mRNA. 1419 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) AGCACACAATGGATGGGCAGC 0.498000 25 11 0 0 0.000978 0 0 PIF1 80119 broad.mit.edu 37 15 65110166 65110166 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:65110166C>T uc002ant.2 - 10 1719 c.1653G>A c.(1651-1653)gcG>gcA p.A551A PIF1_uc002anr.2_Silent_p.A99A|PIF1_uc002ans.2_Silent_p.A242A|PIF1_uc010uiq.1_Silent_p.A551A NM_025049 NP_079325 Q9H611 PIF1_HUMAN Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA. 551 Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity. negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication nuclear chromosome, telomeric region ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding kidney(1)|lung(1) 2 GGATGGACATCGCCCAGGCCA 0.632000 8 4 0 0 0.000602 0 0 ODZ2 57451 broad.mit.edu 37 5 167489216 167489217 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:167489216_167489217GG>AA uc010jjd.3 + 6 1461_1462 c.1461_1462GG>AA c.(1459-1464)aaggac>aaAAac p.D488N ODZ2_uc003lzq.2_Missense_Mutation_p.D367N|ODZ2_uc003lzr.4_Missense_Mutation_p.D256N NM_001122679 NP_001116151 Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA. NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2) 122 Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242) Medulloblastoma(196;0.0241)|all_neural(177;0.026) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124) CCCTCGGGAAGGACGCTCTCTT 0.446000 25 15 0 0 0.004672 0 0 ERO1LB 56605 broad.mit.edu 37 1 236399106 236399106 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:236399106G>A uc001hxt.3 - 7 912 c.656C>T c.(655-657)cCt>cTt p.P219L NM_019891 NP_063944 Q86YB8 ERO1B_HUMAN Homo sapiens ERO1-like beta (S. cerevisiae) (ERO1LB), mRNA. 219 electron transport chain|protein thiol-disulfide exchange|transport endoplasmic reticulum membrane flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1) 23 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219) OV - Ovarian serous cystadenocarcinoma(106;0.00162) AGGCGCCAGAGGATTTAAAGG 0.299000 15 13 0 0 0.006122 0 0 ANKRD11 29123 broad.mit.edu 37 16 89345503 89345503 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:89345503G>A uc002fmx.1 - 8 7908 c.7447C>T c.(7447-7449)Ctc>Ttc p.L2483F ANKRD11_uc002fmy.1_Missense_Mutation_p.L2483F|ANKRD11_uc002fnc.1_Missense_Mutation_p.L2483F|ANKRD11_uc002fna.1_Missense_Mutation_p.L148F|ANKRD11_uc002fnb.1_Missense_Mutation_p.L2440F NM_013275 NP_037407 Q6UB99 ANR11_HUMAN Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA. 2483 nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) AGCTTGCTGAGCGGCTTGCCG 0.657000 11 6 0 0 0.001168 0 0 INMT 11185 broad.mit.edu 37 7 30795310 30795310 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:30795310C>T uc003tbs.1 + 2 651 c.635C>T c.(634-636)tCc>tTc p.S212F FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Missense_Mutation_p.S211F NM_006774 NP_006765 O95050 INMT_HUMAN Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA. 212 cytoplasm amine N-methyltransferase activity kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1) 23 CGTGAATTTTCCTGCGTGGCC 0.597000 16 10 0 0 0.001368 0 0 PLCB4 5332 broad.mit.edu 37 20 9388564 9388564 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:9388564G>A uc021wam.1 + 18 1627 c.1612_splice c.e18-1 p.G538_splice PLCB4_uc010gbw.1_Splice_Site_p.G538_splice|PLCB4_uc010gbx.3_Splice_Site_p.G550_splice|PLCB4_uc021wal.1_Splice_Site_p.G538_splice|PLCB4_uc002wnh.3_Splice_Site_p.G385_splice NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 538 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 GTGCTTGTAGGGCCTGGTCAC 0.408000 46 23 0 0 0.005443 0 0 SDK2 54549 broad.mit.edu 37 17 71431638 71431638 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:71431638G>A uc010dfm.3 - 8 1146 c.1146C>T c.(1144-1146)gcC>gcT p.A382A SDK2_uc010dfn.2_Silent_p.A61A NM_001144952 NP_001138424 Q58EX2 SDK2_HUMAN Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA. 382 Ig-like C2-type 4. cell adhesion integral to membrane breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 86 CTGCATTGCGGGCGAAGCACT 0.642000 7 4 0 0 0.001168 0 0 ZNF425 155054 broad.mit.edu 37 7 148801972 148801972 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:148801972G>A uc003wfj.3 - 3 1124 c.991C>T c.(991-993)Cag>Tag p.Q331* NM_001001661 NP_001001661 Q6IV72 ZN425_HUMAN Homo sapiens zinc finger protein 425 (ZNF425), mRNA. 331 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) TGCGGACACTGGAAGGGCTTC 0.672000 15 8 0 0 0.003080 0 0 EPPK1 83481 broad.mit.edu 37 8 144945157 144945157 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:144945157C>T uc003zaa.1 - 0 2278 c.2265G>A c.(2263-2265)ttG>ttA p.L755L NM_031308 NP_112598 P58107 EPIPL_HUMAN Homo sapiens epiplakin 1 (EPPK1), mRNA. 755 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCAACAGGATCAAGTTCAGCA 0.637000 99 26 0 0 0.001786 0 0 CDKN2A 1029 broad.mit.edu 37 9 21974679 21974680 + Nonsense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:21974679_21974680GG>AA uc003zpk.3 - 0 453_454 c.147_148CC>TT c.(145-150)atccag>atTTag p.Q50* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc010miu.3_Nonsense_Mutation_p.Q50*|CDKN2A_uc003zpl.3_Intron NM_000077 NP_000068 P42771 CD2A1_HUMAN Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA. 50 Q -> R (in CMM2). G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence cytosol|nucleus NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding p.0?(1315)|p.?(25)|p.Q50*(11)|p.I49M(3)|p.V28_V51del(2)|p.I49I(2)|p.I49T(1)|p.0(1)|p.I49S(1)|p.Q50R(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CTACCCACCTGGATCGGCCTCC 0.678000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 81 91 0 0 0.004672 0 0 PLEKHG3 26030 broad.mit.edu 37 14 65209040 65209040 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:65209040C>T uc001xhp.2 + 15 3207 c.3168C>T c.(3166-3168)ctC>ctT p.L1056L PLEKHG3_uc001xhn.1_Silent_p.L879L|PLEKHG3_uc001xho.1_Silent_p.L935L|PLEKHG3_uc010aqh.1_Silent_p.L477L|PLEKHG3_uc001xhq.1_Silent_p.L440L NM_015549 NP_056364 A1L390 PKHG3_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA. 935 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2) 29 all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485) AGTACAGCCTCCGGATCAAGA 0.622000 9 4 0 0 0.001168 0 0 PSD 5662 broad.mit.edu 37 10 104174892 104174893 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:104174892_104174893GG>AA uc001kvg.1 - 3 1378_1379 c.851_852CC>TT c.(850-852)tcc>tTT p.S284F PSD_uc001kvh.1_5'UTR|PSD_uc009xxd.1_Missense_Mutation_p.S284F NM_002779 NP_002770 A5PKW4 PSD1_HUMAN Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA. 284 regulation of ARF protein signal transduction cytoplasm|plasma membrane|ruffle ARF guanyl-nucleotide exchange factor activity|signal transducer activity breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Epithelial(162;1.27e-08)|all cancers(201;2.85e-07) GGTCTGTCTCGGAGTACTTGGC 0.658000 19 7 0 0 0.004672 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661507 77661507 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:77661507G>A uc011cbx.2 + 4 3134 c.2181G>A c.(2179-2181)ggG>ggA p.G727G SHROOM3_uc011cbz.1_Silent_p.G551G|SHROOM3_uc003hkf.1_Silent_p.G602G|SHROOM3_uc003hkg.3_Silent_p.G505G NM_020859 NP_065910 Q8TF72 SHRM3_HUMAN Homo sapiens shroom family member 3 (SHROOM3), mRNA. 727 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) GGCCCGAGGGGAGGACCGGTG 0.672000 38 12 0 0 0.002450 0 0 OR52H1 390067 broad.mit.edu 37 11 5566730 5566730 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:5566730G>A uc010qzh.2 - 0 24 c.24C>T c.(22-24)atC>atT p.I8I HBG1_uc001mak.1_Intron NM_001005289 NP_001005289 Q8NGJ2 O52H1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA. 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGTTGAAAATGATCATGGCAG 0.433000 22 27 0 0 0.001512 0 0 HFE2 148738 broad.mit.edu 37 1 145416753 145416753 + Silent SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:145416753A>G uc001eni.2 + 3 1423 c.1098A>G c.(1096-1098)ttA>ttG p.L366L HFE2_uc001enk.2_Silent_p.L253L|HFE2_uc001enj.2_Silent_p.L140L|HFE2_uc001enl.2_Silent_p.L140L|HFE2_uc021oux.1_Silent_p.L140L NM_213653 NP_660320 Q6ZVN8 RGMC_HUMAN Homo sapiens hemochromatosis type 2 (juvenile) (HFE2), transcript variant a, mRNA. 366 axon guidance anchored to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 14 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TTGATGTTTTAATTTCTGGTG 0.517000 20 14 0 0 0.002450 0 0 PARM1 25849 broad.mit.edu 37 4 75971446 75971446 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:75971446G>A uc003hih.2 + 3 1175 c.922G>A c.(922-924)Gat>Aat p.D308N NM_015393 NP_056208 Q6UWI2 PARM1_HUMAN Homo sapiens prostate androgen-regulated mucin-like protein 1 (PARM1), mRNA. 308 positive regulation of telomerase activity Golgi membrane|early endosome|endosome membrane|integral to membrane|late endosome|plasma membrane cervix(1)|endometrium(2)|lung(4)|ovary(1) 8 CCCTCTGTACGATGACTCCTA 0.438000 16 9 0 0 0.006214 0 0 TMEM67 91147 broad.mit.edu 37 8 94798460 94798460 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:94798460C>T uc011lgk.2 + 12 1369 c.1298C>T c.(1297-1299)tCt>tTt p.S433F TMEM67_uc010mat.1_Missense_Mutation_p.S348F|TMEM67_uc010maw.2_Missense_Mutation_p.S139F|TMEM67_uc003yga.4_Missense_Mutation_p.S352F NM_153704 NP_714915 Q5HYA8 MKS3_HUMAN Homo sapiens transmembrane protein 67 (TMEM67), transcript variant 1, mRNA. 433 ER-associated protein catabolic process|cilium assembly|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GACAGCAACTCTGGAAAGTGG 0.348000 33 12 0 0 0.004007 0 0 BRCC3 79184 broad.mit.edu 37 X 154348417 154348417 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:154348417C>T uc004fna.3 + 10 1051 c.943C>T c.(943-945)Cta>Tta p.L315L BRCC3_uc004fnb.3_Silent_p.L290L|BRCC3_uc011mzy.2_Silent_p.L291L NM_024332 NP_077308 P46736 BRCC3_HUMAN Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA. 315 G2/M transition DNA damage checkpoint|double-strand break repair|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1) 22 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) ACTTTCTTCTCTAGAATAAAT 0.403000 16 49 0 0 0.003610 0 0 AGBL5 60509 broad.mit.edu 37 2 27278857 27278858 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:27278857_27278858CC>TT uc002rie.3 + 6 1433_1434 c.1216_1217CC>TT c.(1216-1218)cca>TTa p.P406L AGBL5_uc002rid.3_Missense_Mutation_p.P406L|AGBL5_uc002rif.3_Non-coding_Transcript NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA. 406 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGGATTATGCCACAACAGTCT 0.520000 83 25 0 0 0.004672 0 0 MS4A10 341116 broad.mit.edu 37 11 60559780 60559780 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:60559780T>A uc001npz.1 + 3 442 c.346T>A c.(346-348)Tct>Act p.S116T NM_206893 NP_996776 Q96PG2 M4A10_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 10 (MS4A10), mRNA. 116 integral to membrane receptor activity endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2) 21 GAAGACCTTTTCTAAAACTTA 0.443000 81 29 0 0 0.005524 0 0 TMEM132D 121256 broad.mit.edu 37 12 129694134 129694134 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:129694134C>T uc009zyl.1 - 4 1702 c.1374G>A c.(1372-1374)gaG>gaA p.E458E NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 458 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TGCCGTCGTCCTCCACGGAGA 0.567000 11 9 0 0 0.000673 0 0 SRGAP3 9901 broad.mit.edu 37 3 9036042 9036042 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:9036042A>T uc003brf.1 - 18 3069 c.2393T>A c.(2392-2394)aTa>aAa p.I798K SRGAP3_uc003brg.1_Missense_Mutation_p.I774K NM_014850 NP_055665 O43295 SRGP2_HUMAN Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA. 798 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CTGTACAACTATGTACTGATG 0.562000 T RAF1 pilocytic astrocytoma 24 12 0 0 0.001855 0 0 SPHKAP 80309 broad.mit.edu 37 2 228882158 228882158 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:228882158C>T uc002vpq.2 - 6 3459 c.3412G>A c.(3412-3414)Gaa>Aaa p.E1138K SPHKAP_uc002vpp.2_Missense_Mutation_p.E1138K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E1138K NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 1138 cytoplasm protein binding p.M1137I(1) NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) CCTTCATTTTCCATCTGGTTC 0.537000 17 9 0 0 0.006214 0 0 FER1L6 654463 broad.mit.edu 37 8 125047600 125047600 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:125047600G>A uc003yqw.3 + 18 2575 c.2369G>A c.(2368-2370)aGt>aAt p.S790N FER1L6-AS1_uc003yqx.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 790 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) AAGCATGCCAGTGCCATTTTG 0.537000 72 23 0 0 0.004656 0 0 MIR7-2 407044 broad.mit.edu 37 15 89155069 89155069 + RNA SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:89155069G>A uc010upm.2 + 0 c.14G>A Homo sapiens microRNA 7-2 (MIR7-2), microRNA. GATACAGAGTGGACCGGCTGG 0.587000 7 7 0 0 0.004482 0 0 STAB2 55576 broad.mit.edu 37 12 104142832 104142833 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:104142832_104142833GG>AA uc001tjw.3 + 58 6522_6523 c.6336_6337GG>AA c.(6334-6339)aaggga>aaAAga p.G2113R STAB2_uc009zug.3_Non-coding_Transcript NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 2113 EGF-like 16. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 GCTGCCAGAAGGGATACAAAGG 0.589000 24 18 0 0 0.004672 0 0 DCX 1641 broad.mit.edu 37 X 110574251 110574251 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:110574251C>T uc004epd.3 - 4 1242 c.1070G>A c.(1069-1071)gGa>gAa p.G357E DCX_uc011msv.2_Missense_Mutation_p.G357E|DCX_uc004epe.3_Missense_Mutation_p.G276E|DCX_uc004epf.3_Missense_Mutation_p.G276E|DCX_uc004epg.3_Missense_Mutation_p.G276E NM_000555 NP_835366 O43602 DCX_HUMAN Homo sapiens doublecortin (DCX), transcript variant 1, mRNA. 357 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 TGATGGGTTTCCCTTCATGAC 0.532000 11 34 0 0 0.004878 0 0 CABP7 164633 broad.mit.edu 37 22 30124621 30124621 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:30124621G>A uc003agl.3 + 2 326 c.256G>A c.(256-258)Gat>Aat p.D86N NM_182527 NP_872333 Q86V35 CABP7_HUMAN Homo sapiens calcium binding protein 7 (CABP7), mRNA. 86 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding lung(1)|skin(3) 4 OV - Ovarian serous cystadenocarcinoma(5;0.00442)|Epithelial(10;0.215)|all cancers(5;0.233) TCCACCAGGTGATGGTCAAGT 0.572000 14 16 0 0 0.004990 0 0 SCN4A 6329 broad.mit.edu 37 17 62050038 62050038 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:62050038C>T uc002jds.1 - 0 241 c.164G>A c.(163-165)cGa>cAa p.R55Q NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 55 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CAAGTCACTTCGTGGCTTCCG 0.627000 10 11 0 0 0.001368 0 0 CARD11 84433 broad.mit.edu 37 7 2954959 2954959 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2954959C>T uc003smv.3 - 20 3085 c.2751G>A c.(2749-2751)gaG>gaA p.E917E NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 917 T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity p.G917G(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TGCGGACCCGCTCGTTGCTGT 0.587000 Mis DLBCL 25 11 0 0 0.000978 0 0 ZFHX4 79776 broad.mit.edu 37 8 77618596 77618596 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:77618596C>T uc003yau.2 + 1 2660 c.2273C>T c.(2272-2274)cCg>cTg p.P758L ZFHX4_uc003yat.1_Missense_Mutation_p.P758L|ZFHX4_uc003yaw.1_Missense_Mutation_p.P758L NM_024721 NP_078997 Q86UP3 ZFHX4_HUMAN Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA. 758 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P758P(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) ACACCCTCTCCGTCCAAACCC 0.522000 HNSCC(33;0.089) 27 6 0 0 0.001168 0 0 GPR141 353345 broad.mit.edu 37 7 37780295 37780295 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:37780295C>T uc003tfm.1 + 0 300 c.300C>T c.(298-300)taC>taT p.Y100Y BC043356_uc003tfl.3_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA. 100 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TCCACATGTACCTCACGTTCC 0.463000 33 22 0 0 0.001882 0 0 OR8H2 390151 broad.mit.edu 37 11 55873109 55873109 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55873109C>T uc010riy.2 + 0 591 c.591C>T c.(589-591)atC>atT p.I197I NM_001005200 NP_001005200 Q8N162 OR8H2_HUMAN Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA. 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 61 Esophageal squamous(21;0.00693) ACACCGAAATCCTGATATTCA 0.388000 HNSCC(53;0.14) 70 26 0 0 0.003954 0 0 EML3 256364 broad.mit.edu 37 11 62378723 62378723 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62378723G>A uc010rly.1 - 2 596 c.288C>T c.(286-288)tcC>tcT p.S96S EML3_uc001ntr.1_Silent_p.S68S|EML3_uc001nts.1_Silent_p.S68S|EML3_uc001ntt.1_5'UTR|EML3_uc001ntu.1_Silent_p.S96S|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank Q32P44 EMAL3_HUMAN Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA. 96 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 GGGGTCCAGGGGATGACTTGA 0.672000 22 12 0 0 0.001855 0 0 CYP46A1 10858 broad.mit.edu 37 14 100182481 100182481 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:100182481G>A uc001ygo.3 + 8 852 c.852G>A c.(850-852)gaG>gaA p.E284E CYP46A1_uc001ygp.3_Silent_p.E131E NM_006668 NP_006659 Q9Y6A2 CP46A_HUMAN Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA. 284 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) CAGCTGAAGAGGGAGCCCAGG 0.512000 9 10 0 0 0.002450 0 0 LOC100233156 100233156 broad.mit.edu 37 GL000218.1 40716 40716 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrGL000218.1:40716C>T uc011mfn.2 - 2 303 c.214G>A c.(214-216)Gtg>Atg p.V72M LOC100233156_uc003jah.2_Missense_Mutation_p.V72M Homo sapiens tektin 4 pseudogene (LOC100233156), transcript variant 1, non-coding RNA. GCCAGGTTCACGGCGTCACAC 0.672000 10 4 0 0 0.000248 0 0 TRPM5 29850 broad.mit.edu 37 11 2436352 2436352 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:2436352G>A uc010qxl.2 - 9 1488 c.1479_splice c.e9+1 p.A493_splice TRPM5_uc001lwm.4_Splice_Site_p.A493_splice|TRPM5_uc009ydn.3_Splice_Site_p.A495_splice NM_014555 NP_055370 Q9NZQ8 TRPM5_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA. 493 integral to membrane|plasma membrane receptor activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2) 23 Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311) BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191) CCCGCTCACCGCCCTCCTGCG 0.731000 10 10 0 0 0.006214 0 0 DDX60 55601 broad.mit.edu 37 4 169206650 169206650 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:169206650C>T uc003irp.3 - 11 1632 c.1340_splice c.e11-1 p.D447_splice NM_017631 NP_060101 Q8IY21 DDX60_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA. 447 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4) 63 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.0485) TTGGAGCTGTCTGTAAACAAA 0.294000 11 9 0 0 0.004482 0 0 RNF213 57674 broad.mit.edu 37 17 78321753 78321753 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:78321753C>T uc002jyh.2 + 29 9908 c.9765C>T c.(9763-9765)ttC>ttT p.F3255F RNF213_uc021uen.1_Silent_p.F3206F NM_020914 NP_065965 Q9HCF4 ALO17_HUMAN SubName: Full=Uncharacterized protein; 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) CACATCATTTCCAGAAGAGGC 0.547000 17 12 0 0 0.000978 0 0 NCKAP5 344148 broad.mit.edu 37 2 133489377 133489377 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:133489377G>A uc002ttp.3 - 16 5750 c.5376C>T c.(5374-5376)tcC>tcT p.S1792S NCKAP5_uc002ttq.3_Silent_p.S473S NM_207363 NP_997246 O14513 NCKP5_HUMAN Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA. 1792 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGATGGGGTCGGATGTGGAAT 0.547000 37 25 0 0 0.005443 0 0 PLG 5340 broad.mit.edu 37 6 161152886 161152886 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:161152886C>T uc003qtm.4 + 11 1660 c.1548C>T c.(1546-1548)ttC>ttT p.F516F NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 516 Kringle 5. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) ACAGCATTTTCACTCCAGAGA 0.512000 14 18 0 0 0.001882 0 0 OR2B11 127623 broad.mit.edu 37 1 247615041 247615041 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:247615041C>T uc010pyx.2 - 0 244 c.244G>A c.(244-246)Gtc>Atc p.V82I NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA. 82 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) ATCTGAGGGACTGTCGTGGTG 0.562000 44 24 0 0 0.003330 0 0 CHD5 26038 broad.mit.edu 37 1 6203991 6203991 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:6203991C>T uc001amb.2 - 13 2046 c.1935_splice c.e13-1 p.R645_splice CHD5_uc001ama.2_Splice_Site|CHD5_uc001amc.1_Splice_Site NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 645 Chromo 2. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) GCATCAGCTCCCTGGGAAACG 0.652000 44 29 0 0 0.001512 0 0 AGAP1 116987 broad.mit.edu 37 2 236957790 236957790 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:236957790G>A uc002vvs.3 + 15 2577 c.1979G>A c.(1978-1980)cGa>cAa p.R660Q AGAP1_uc002vvt.3_Missense_Mutation_p.R607Q NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 660 Arf-GAP. protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CACCTTTCCCGAGTCCGATCT 0.572000 56 24 0 0 0.004656 0 0 COL6A5 256076 broad.mit.edu 37 3 130095498 130095498 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:130095498G>A uc010htj.1 + 2 980 c.486G>A c.(484-486)gtG>gtA p.V162V COL6A5_uc010hti.1_Non-coding_Transcript NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 162 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 AAGACGGGGTGAAAATTATCT 0.507000 7 5 0 0 0.001168 0 0 CYP4A11 1579 broad.mit.edu 37 1 47400739 47400739 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:47400739G>A uc001cqp.4 - 5 774 c.723C>T c.(721-723)acC>acT p.T241T CYP4A11_uc001cqq.2_Silent_p.T241T|CYP4A11_uc010omm.1_Intron NM_000778 NP_000769 Q02928 CP4AB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA. 241 long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding p.D240N(1) endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 36 NADH(DB00157) GGCTGTAGATGGTGTCATTCT 0.537000 60 26 0 0 0.003954 0 0 OR2L8 391190 broad.mit.edu 37 1 248113064 248113064 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:248113064G>A uc001idt.1 + 0 905 c.905G>A c.(904-906)cGa>cAa p.R302Q OR2L13_uc001ids.3_Intron NM_001001963 NP_001001963 Q8NGY9 OR2L8_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA. 302 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3) 42 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0152) GCCCTGACACGAGTGAGTCAG 0.473000 18 14 0 0 0.004990 0 0 OR1L3 26735 broad.mit.edu 37 9 125437507 125437507 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:125437507C>T uc011lzb.2 + 0 99 c.99C>T c.(97-99)atC>atT p.I33I NM_001005234 NP_001005234 Q8NH93 OR1L3_HUMAN Homo sapiens olfactory receptor, family 1, subfamily L, member 3 (OR1L3), mRNA. 33 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 16 TCTTTCTTATCATATACCTGG 0.443000 68 29 0 0 0.007291 0 0 ABCA8 10351 broad.mit.edu 37 17 66871529 66871529 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:66871529G>A uc002jhq.3 - 36 4843 c.4503C>T c.(4501-4503)tcC>tcT p.S1501S ABCA8_uc002jhp.3_Silent_p.S1461S|ABCA8_uc010wqq.2_Silent_p.S1496S NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1461 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R1501Q(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GGTGTTGGATGGAACCGATAC 0.443000 36 11 0 0 0.000978 0 0 TRRAP 8295 broad.mit.edu 37 7 98592250 98592251 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:98592250_98592251CC>TT uc003upp.3 + 65 10255_10256 c.10046_10047CC>TT c.(10045-10047)tcc>tTT p.S3349F TRRAP_uc011kis.2_Missense_Mutation_p.S3320F|TRRAP_uc003upr.3_Missense_Mutation_p.S3055F NM_001244580 NP_001231509 Q9Y4A5 TRRAP_HUMAN Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA. 3349 histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) AAATGTTACTCCGTGGCGTTTG 0.540000 88 40 0 0 0.004672 0 0 NAA40 79829 broad.mit.edu 37 11 63714427 63714427 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:63714427G>A uc009yoz.3 + 2 234 c.107G>A c.(106-108)gGa>gAa p.G36E NAA40_uc010rmw.2_Intron|NAA40_uc010rmx.2_Missense_Mutation_p.G15E NM_024771 NP_079047 Q86UY6 NAA40_HUMAN Homo sapiens N(alpha)-acetyltransferase 40, NatD catalytic subunit, homolog (S. cerevisiae) (NAA40), mRNA. 36 N-acetyltransferase activity NS(1)|endometrium(1)|lung(2)|prostate(1) 5 CCACAGCTTGGAGACCCTCTG 0.512000 43 24 0 0 0.002096 0 0 TPTE2 93492 broad.mit.edu 37 13 19997240 19997240 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:19997240G>A uc001umd.3 - 20 1742 c.1531C>T c.(1531-1533)Cca>Tca p.P511S TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.P400S|TPTE2_uc001ume.3_Missense_Mutation_p.P434S|TPTE2_uc009zzm.3_Missense_Mutation_p.P182S|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Missense_Mutation_p.P182S NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 511 C2 tensin-type. endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) GCAAATTCTGGTGGATAAATT 0.363000 18 18 0 0 0.001882 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192172 125192172 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:125192172G>A uc010flu.3 + 4 1005 c.641G>A c.(640-642)gGa>gAa p.G214E CNTNAP5_uc002tno.3_Missense_Mutation_p.G214E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 214 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) AGCATGCAAGGAGATGGGGTC 0.512000 30 14 0 0 0.002450 0 0 MPDZ 8777 broad.mit.edu 37 9 13150678 13150678 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:13150678G>A uc010mia.1 - 23 3519 c.3462C>T c.(3460-3462)ctC>ctT p.L1154L MPDZ_uc010mhx.3_Silent_p.L46L|MPDZ_uc011lmm.2_Silent_p.L46L|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Silent_p.L1154L|MPDZ_uc011lmn.2_Silent_p.L1154L|MPDZ_uc010mhy.3_Silent_p.L1154L|MPDZ_uc003zlb.4_Silent_p.L1154L NM_003829 NP_003820 O75970 MPDZ_HUMAN Homo sapiens multiple PDZ domain protein (MPDZ), mRNA. 1154 PDZ 7. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding p.E1153D(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2) 61 GBM - Glioblastoma multiforme(50;2.03e-06) GTTCTCTCCAGAGTTCCACCC 0.388000 7 5 0 0 0.000602 0 0 MDC1 9656 broad.mit.edu 37 6 30680248 30680248 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:30680248G>A uc003nrg.4 - 4 1911 c.1471C>T c.(1471-1473)Cct>Tct p.P491S MDC1_uc003nrf.4_Missense_Mutation_p.P145S|MDC1_uc011dmp.1_Missense_Mutation_p.P363S|MDC1_uc003nrh.1_Missense_Mutation_p.P363S|MDC1_uc003nri.2_Missense_Mutation_p.P491S NM_014641 NP_055456 Q14676 MDC1_HUMAN Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA. 491 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TCCCCAAAAGGAGGTTGGTCC 0.502000 Other conserved DNA damage response genes 39 42 0 0 0.003214 0 0 FNBP1L 54874 broad.mit.edu 37 1 94012481 94012481 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:94012481G>A uc010otk.2 + 12 1508 c.1357G>A c.(1357-1359)Gag>Aag p.E453K FNBP1L_uc001dpv.3_Missense_Mutation_p.E395K|FNBP1L_uc001dpw.3_Missense_Mutation_p.E395K|FNBP1L_uc010otl.2_Missense_Mutation_p.E23K NM_001164473 NP_001157945 Q5T0N5 FBP1L_HUMAN Homo sapiens formin binding protein 1-like (FNBP1L), transcript variant 3, mRNA. 453 Interaction with CDC42. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane lipid binding breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1) 11 all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155) all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111) TAAATTAGCAGAGACCATGAA 0.358000 10 10 0 0 0.001368 0 0 TP53 7157 broad.mit.edu 37 17 7578257 7578257 + Nonsense_Mutation SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:7578257C>A uc002gim.2 - 5 786 c.592G>T c.(592-594)Gaa>Taa p.E198* TP53_uc002gig.1_Nonsense_Mutation_p.E198*|TP53_uc002gih.3_Nonsense_Mutation_p.E198*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.E66*|TP53_uc010cnf.1_Nonsense_Mutation_p.E66*|TP53_uc002gii.1_Nonsense_Mutation_p.E66*|TP53_uc010cni.1_Nonsense_Mutation_p.E198*|TP53_uc010cnh.1_Nonsense_Mutation_p.E198*|TP53_uc002gij.2_Nonsense_Mutation_p.E198*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.E105*|TP53_uc002gio.2_Nonsense_Mutation_p.E66*|TP53_uc010vug.2_Nonsense_Mutation_p.E159*|DL476358_uc021tph.1_Non-coding_Transcript NM_001126112 NP_001119587 P04637 P53_HUMAN Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA. 198 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation). DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E198*(48)|p.V197G(14)|p.V197M(11)|p.E198K(10)|p.V197E(8)|p.0?(8)|p.?(5)|p.V197L(4)|p.P191_E198>Q(4)|p.E198fs*11(4)|p.E198Q(4)|p.A189_V197delAPPQHLIRV(4)|p.E66*(3)|p.E105*(3)|p.V197V(2)|p.E198fs*7(2)|p.I195_G199delIRVEG(2)|p.E198fs*49(2)|p.K164_P219del(1)|p.V197A(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.E198G(1)|p.P98_E105>Q(1)|p.E198_L201>V(1)|p.E198_G199ins21(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AAATTTCCTTCCACTCGGATA 0.547000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 8 15 6.49762e-13 8.13368e-13 0.006122 1 0 ICT1 3396 broad.mit.edu 37 17 73015830 73015831 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:73015830_73015831CC>TT uc002jmm.3 + 2 261_262 c.259_260CC>TT c.(259-261)cct>TTt p.P87F NM_001545 NP_001536 Q14197 ICT1_HUMAN Homo sapiens immature colon carcinoma transcript 1 (ICT1), mRNA. 87 mitochondrial translational termination mitochondrial large ribosomal subunit aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1) 6 all_lung(278;0.226) GAGTAGTGGTCCTGGGGGGCAG 0.436000 15 18 0 0 0.004672 0 0 MUC16 94025 broad.mit.edu 37 19 9061528 9061528 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9061528G>A uc002mkp.3 - 2 26122 c.25918C>T c.(25918-25920)Cat>Tat p.H8640Y NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8642 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 GAGGAGGGATGAATTTTCTCT 0.433000 31 29 0 0 0.001512 0 0 PDE1C 5137 broad.mit.edu 37 7 31867980 31867980 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:31867980C>T uc003tcm.2 - 11 1672 c.1211G>A c.(1210-1212)aGa>aAa p.R404K PDE1C_uc003tcn.1_Missense_Mutation_p.R404K|PDE1C_uc003tco.2_Missense_Mutation_p.R464K|PDE1C_uc003tcr.3_Missense_Mutation_p.R404K|PDE1C_uc003tcs.3_Missense_Mutation_p.R404K NM_001191057 NP_001177988 Q14123 PDE1C_HUMAN Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA. 404 Catalytic (By similarity). activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CTCTGCTTCTCTGTCACCCTG 0.488000 19 10 0 0 0.000673 0 0 NCAM1 4684 broad.mit.edu 37 11 113103520 113103520 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:113103520C>T uc021qqp.1 + 12 1950 c.1578C>T c.(1576-1578)ttC>ttT p.F526F NCAM1_uc001pnp.3_Silent_p.F490F|NCAM1_uc021qqo.1_Silent_p.F490F|NCAM1_uc001pnq.3_Silent_p.F500F|NCAM1_uc001pnr.3_Silent_p.F490F NM_001242607 NP_001229536 P13591 NCAM1_HUMAN Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA. 502 Fibronectin type-III 1. axon guidance|interferon-gamma-mediated signaling pathway Golgi membrane|anchored to membrane|extracellular region|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) CCTTGGAATTCATCCTTGTTC 0.498000 11 15 0 0 0.007413 0 0 MAGI3 260425 broad.mit.edu 37 1 114216003 114216003 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:114216003C>T uc001edk.3 + 18 3286 c.3105C>T c.(3103-3105)ctC>ctT p.L1035L MAGI3_uc001edh.3_Silent_p.L1060L|MAGI3_uc001edi.4_Silent_p.L1035L|MAGI3_uc010owm.2_Silent_p.L1060L|MAGI3_uc001edj.3_Silent_p.L756L NM_001142782 NP_001136254 Q5TCQ9 MAGI3_HUMAN Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA. 1060 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATTCAGCCTCCGAGGGGGGA 0.493000 126 31 0 0 0.002836 0 0 CLEC5A 23601 broad.mit.edu 37 7 141631613 141631613 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:141631613T>C uc003vwv.1 - 5 556 c.359A>G c.(358-360)gAc>gGc p.D120G CLEC5A_uc011krm.1_Missense_Mutation_p.D97G|CLEC5A_uc003vww.1_Missense_Mutation_p.D119G|CLEC5A_uc010lnq.1_Missense_Mutation_p.D97G|CLEC5A_uc010lnr.1_Non-coding_Transcript NM_013252 NP_037384 Q9NY25 CLC5A_HUMAN Homo sapiens C-type lectin domain family 5, member A (CLEC5A), mRNA. 120 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) ATCAGTTATGTCCTGAAGAAA 0.383000 43 21 0 0 0.001523 0 0 ARID5B 84159 broad.mit.edu 37 10 63661961 63661961 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:63661961A>T uc001jlt.2 + 1 521 c.65A>T c.(64-66)tAc>tTc p.Y22F ARID5B_uc010qil.2_Missense_Mutation_p.Y22F NM_032199 NP_115575 Q14865 ARI5B_HUMAN Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA. 22 liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent protein binding|transcription regulatory region DNA binding NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 Prostate(12;0.016)|all_hematologic(501;0.215) TACATTTTCTACAAGGCTTTT 0.453000 49 24 0 0 0.002299 0 0 BCL2L12 83596 broad.mit.edu 37 19 50169132 50169132 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50169132C>T uc002ppa.3 + 0 734 c.52C>T c.(52-54)Cgg>Tgg p.R18W IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_Splice_Site|IRF3_uc021uxq.1_Splice_Site|IRF3_uc002pot.2_Splice_Site|IRF3_uc021uxr.1_Splice_Site|IRF3_uc021uxs.1_Splice_Site|IRF3_uc002pow.3_Splice_Site|IRF3_uc021uxo.1_Splice_Site|IRF3_uc002pou.3_Splice_Site|IRF3_uc010end.2_Splice_Site|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.R18W NM_138639 NP_619580 Q9HB09 B2L12_HUMAN Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA. 18 apoptosis central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1) 8 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214) TTTGGGTTTCCGGCCAGAGGC 0.577000 47 27 0 0 0.004656 0 0 LRFN2 57497 broad.mit.edu 37 6 40360102 40360102 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:40360102C>T uc003oph.1 - 2 2415 c.1950G>A c.(1948-1950)aaG>aaA p.K650K NM_020737 NP_065788 Q9ULH4 LRFN2_HUMAN Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA. 650 cell junction|integral to membrane|postsynaptic membrane breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Ovarian(28;0.0418)|Colorectal(47;0.196) CAAGGCTGGGCTTGGGGCGCG 0.706000 1 3 0 0 0.004672 0 0 ZNF611 81856 broad.mit.edu 37 19 53209551 53209551 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:53209551G>A uc002pzz.3 - 6 1074 c.757C>T c.(757-759)Cat>Tat p.H253Y ZNF611_uc010eqc.3_Missense_Mutation_p.H183Y|ZNF611_uc010ydo.2_Missense_Mutation_p.H183Y|ZNF611_uc010ydp.2_Missense_Mutation_p.H253Y|ZNF611_uc010ydq.2_Missense_Mutation_p.H253Y|ZNF611_uc010ydr.2_Missense_Mutation_p.H184Y|ZNF611_uc002qaa.4_Missense_Mutation_p.H183Y|ZNF611_uc021uyy.1_Missense_Mutation_p.H184Y NM_030972 NP_001154973 Q8N823 ZN611_HUMAN Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA. 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.P252L(1) breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04) TCTCCTAAATGGGGTATCTGG 0.378000 94 14 0 0 0.004990 0 0 MTOR 2475 broad.mit.edu 37 1 11300598 11300598 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:11300598G>A uc001asd.3 - 10 1669 c.1548C>T c.(1546-1548)gcC>gcT p.A516A NM_004958 NP_004949 P42345 MTOR_HUMAN Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA. 516 T cell costimulation|TOR signaling cascade|cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient Golgi membrane|PML body|TORC1 complex|TORC2 complex|endoplasmic reticulum membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 CTGCAGTGAGGGCAGGGCTGA 0.517000 43 17 0 0 0.001216 0 0 SLC5A7 60482 broad.mit.edu 37 2 108627290 108627290 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:108627290G>A uc002tdv.3 + 8 1992 c.1716G>A c.(1714-1716)ggG>ggA p.G572G SLC5A7_uc010ywm.2_Silent_p.G325G|SLC5A7_uc010fjj.3_Silent_p.G572G|SLC5A7_uc010ywn.2_Silent_p.G459G NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 572 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity p.E571K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) GTCCAGAAGGGTCTGGGACTG 0.433000 14 8 0 0 0.004482 0 0 GOLGA2P5 55592 broad.mit.edu 37 12 100564765 100564765 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:100564765C>T uc021rcm.1 - 2 c.233_splice c.e2-1 GOLGA2P5_uc001tgz.4_Splice_Site Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA. TCTTTCTTTTCCTATAGGAAG 0.512000 39 26 0 0 0.001512 0 0 LRP2 4036 broad.mit.edu 37 2 170135925 170135925 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:170135925T>C uc002ues.3 - 11 1735 c.1522A>G c.(1522-1524)Aac>Gac p.N508D LRP2_uc010zdf.1_Missense_Mutation_p.N508D NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 508 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TGCCCCAAGTTTTCAGTTATA 0.398000 63 35 0 0 0.006230 0 0 NAT10 55226 broad.mit.edu 37 11 34152950 34152950 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:34152950C>T uc001mvk.3 + 13 1636 c.1392C>T c.(1390-1392)tcC>tcT p.S464S NAT10_uc010ren.2_Silent_p.S392S NM_024662 NP_078938 Q9H0A0 NAT10_HUMAN Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA. 464 nucleolus ATP binding|N-acetyltransferase activity|protein binding endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231) ATGAGGTTTCCCTCCAGGAGT 0.463000 16 18 0 0 0.001523 0 0 MAPK10 5602 broad.mit.edu 37 4 87115524 87115524 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:87115524C>T uc003hps.3 - 2 717 c.31G>A c.(31-33)Gaa>Aaa p.E11K MAPK10_uc010ikg.3_5'UTR|MAPK10_uc003hpr.3_5'UTR|MAPK10_uc003hpt.3_Missense_Mutation_p.E11K|MAPK10_uc003hpu.3_Missense_Mutation_p.E11K|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|BC038746_uc003hpw.3_Intron NM_138982 NP_620446 P53779 MK10_HUMAN Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA. 11 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) AATGTTGGTTCACTGCAGTAG 0.333000 120 45 0 0 0.003610 0 0 AKR1B1 231 broad.mit.edu 37 7 134134532 134134532 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:134134532G>A uc003vrp.1 - 3 443 c.369C>T c.(367-369)ttC>ttT p.F123F NM_001628 NP_001619 P15121 ALDR_HUMAN Homo sapiens aldo-keto reductase family 1, member B1 (aldose reductase) (AKR1B1), mRNA. 123 C21-steroid hormone biosynthetic process|carbohydrate metabolic process|response to stress cytosol|extracellular space|nucleus alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding kidney(1)|large_intestine(5)|lung(2)|ovary(3)|prostate(1)|skin(2) 14 NADH(DB00157)|Sulindac(DB00605) CATCCAATGGGAAAAATTCCT 0.468000 81 42 0 0 0.003610 0 0 SCAP 22937 broad.mit.edu 37 3 47460943 47460943 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:47460943C>T uc003crh.1 - 12 2070 c.1815G>A c.(1813-1815)gaG>gaA p.E605E SCAP_uc011baz.1_Silent_p.E350E|SCAP_uc003crg.2_Silent_p.E213E NM_012235 NP_036367 Q12770 SCAP_HUMAN Homo sapiens SREBF chaperone (SCAP), mRNA. 605 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway ER to Golgi transport vesicle membrane|Golgi membrane|endoplasmic reticulum membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) CATGGACAACCTCTGCTGGAC 0.602000 42 19 0 0 0.001882 0 0 ST18 9705 broad.mit.edu 37 8 53076651 53076651 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:53076651C>T uc003xqz.2 - 8 1452 c.1296_splice c.e8-1 p.S432_splice ST18_uc011ldq.1_Splice_Site_p.S79_splice|ST18_uc011ldr.1_Splice_Site_p.S397_splice|ST18_uc011lds.1_Splice_Site_p.S337_splice|ST18_uc003xra.2_Splice_Site_p.S432_splice|ST18_uc003xrb.2_Splice_Site_p.S432_splice NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 432 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) ACCAGAAAGACTGTTTAAAAA 0.408000 96 20 0 0 0.001216 0 0 SPATA20 64847 broad.mit.edu 37 17 48631746 48631746 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48631746C>T uc002ird.3 + 14 2233 c.2092C>T c.(2092-2094)Cgt>Tgt p.R698C SPATA20_uc002irc.3_Missense_Mutation_p.R349C|SPATA20_uc002ire.3_Missense_Mutation_p.R638C|SPATA20_uc002irf.3_Missense_Mutation_p.R682C|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 682 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding p.R698H(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) GCGCATGCGTCGTGTCCCGGT 0.657000 76 32 0 0 0.005524 0 0 ACTL6B 51412 broad.mit.edu 37 7 100245114 100245115 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100245114_100245115CC>TT uc003uvy.3 - 7 818_819 c.711_712GG>AA c.(709-714)aaggag>aaAAag p.E238K ACTL6B_uc003uvz.3_Non-coding_Transcript NM_016188 NP_057272 O94805 ACL6B_HUMAN Homo sapiens actin-like 6B (ACTL6B), mRNA. 238 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent SWI/SNF complex|nBAF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGTAGCTTCTCCTTCTTCTTCC 0.609000 50 21 0 0 0.004672 0 0 ILKAP 80895 broad.mit.edu 37 2 239079622 239079623 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:239079622_239079623GG>AA uc002vxv.3 - 10 1129_1130 c.999_1000CC>TT c.(997-1002)acccca>acTTca p.P334S ILKAP_uc010zns.2_Missense_Mutation_p.P266S|ILKAP_uc002vxw.3_Missense_Mutation_p.P214S|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.P216S NM_030768 NP_110395 Q9H0C8 ILKAP_HUMAN Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA. 334 PP2C-like. cytoplasm|protein serine/threonine phosphatase complex metal ion binding|protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163) GCTTCTTCTGGGGTAAAGACCT 0.441000 71 43 0 0 0.004672 0 0 ITIH1 3697 broad.mit.edu 37 3 52814382 52814383 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:52814382_52814383CC>TT uc003dfs.3 + 5 701_702 c.671_672CC>TT c.(670-672)tcc>tTT p.S224F ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.S82F|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank NM_002215 NP_002206 P19827 ITIH1_HUMAN Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA. 224 hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) ATCAAGAAGTCCTTCTCAGGAA 0.554000 15 10 0 0 0.004672 0 0 SLC12A4 6560 broad.mit.edu 37 16 67980933 67980933 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67980933G>A uc010vkj.1 - 15 2194 c.2154C>T c.(2152-2154)tcC>tcT p.S718S LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Silent_p.S710S|SLC12A4_uc010vkh.1_Silent_p.S685S|SLC12A4_uc002euz.2_Silent_p.S716S|SLC12A4_uc010vki.1_Silent_p.S716S|SLC12A4_uc002eva.2_Silent_p.S716S|SLC12A4_uc010cev.1_Non-coding_Transcript|SLC12A4_uc002evb.2_Non-coding_Transcript NM_001145962 NP_001139434 Q9UP95 S12A4_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA. 716 cell volume homeostasis|potassium ion transport|sodium ion transport integral to plasma membrane|membrane fraction potassium:chloride symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3) 29 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) Bumetanide(DB00887)|Potassium Chloride(DB00761) CCTTGAGCTGGGAGGCGAAGG 0.652000 13 7 0 0 0.003080 0 0 SELS 55829 broad.mit.edu 37 15 101814870 101814870 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:101814870C>T uc021sxu.1 - 3 413 c.335G>A c.(334-336)aGg>aAg p.R112K SELS_uc021sxv.1_Missense_Mutation_p.R112K NM_203472 Q9BQE4 SELS_HUMAN Homo sapiens selenoprotein S (SELS), transcript variant 1, mRNA. 112 ER overload response|ER-associated protein catabolic process|anti-apoptosis|cell redox homeostasis|cellular response to insulin stimulus|cellular response to lipopolysaccharide|cellular response to oxidative stress|endoplasmic reticulum unfolded protein response|negative regulation of acute inflammatory response to antigenic stimulus|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of interleukin-6 production|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of tumor necrosis factor production|regulation of gluconeogenesis|regulation of nitric oxide metabolic process|response to glucose stimulus|response to redox state|retrograde protein transport, ER to cytosol integral to endoplasmic reticulum membrane|low-density lipoprotein particle|microsome|plasma membrane|very-low-density lipoprotein particle antioxidant activity|enzyme binding|receptor activity|selenium binding Lung NSC(78;0.00156)|all_lung(78;0.00195)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.00113)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CTTCTGTCTCCTTTTTTCTTC 0.408000 14 8 0 0 0.006214 0 0 ZNF792 126375 broad.mit.edu 37 19 35449497 35449498 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:35449497_35449498GG>AA uc002nxh.1 - 3 1648_1649 c.1261_1262CC>TT c.(1261-1263)cct>TTt p.P421F NM_175872 NP_787068 Q3KQV3 ZN792_HUMAN Homo sapiens zinc finger protein 792 (ZNF792), mRNA. 421 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACACTTGTAAGGTCTTTCTCCA 0.480000 32 11 0 0 0.004672 0 0 ANXA5 308 broad.mit.edu 37 4 122593728 122593728 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:122593728G>A uc003idu.4 - 7 655 c.585C>T c.(583-585)atC>atT p.I195I ANXA5_uc003idv.4_Silent_p.I195I NM_001154 NP_001145 P08758 ANXA5_HUMAN Homo sapiens annexin A5 (ANXA5), mRNA. 195 anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction cytoplasm calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1) 15 CAAAGATGGTGATAAACTTTT 0.373000 33 9 0 0 0.006214 0 0 MDS2 259283 broad.mit.edu 37 1 23908083 23908083 + RNA SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:23908083G>A uc001bhi.3 + 0 c.99G>A Homo sapiens myelodysplastic syndrome 2 translocation associated (MDS2), non-coding RNA. breast(1)|ovary(2) 3 CCTTGGGAGGGACTGTGAAGA 0.592000 T ETV6 MDS 7 5 0 0 0.001168 0 0 ACSM1 116285 broad.mit.edu 37 16 20702490 20702490 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:20702490G>A uc002dhm.1 - 0 89 c.21C>T c.(19-21)ttC>ttT p.F7F ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Silent_p.F7F NM_052956 NP_443188 Q08AH1 ACSM1_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA. 7 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 AGAGGGTCCGGAACCTCATTA 0.532000 74 33 0 0 0.004289 0 0 PTPRT 11122 broad.mit.edu 37 20 40713343 40713343 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:40713343C>T uc002xkg.3 - 28 4299 c.4115G>A c.(4114-4116)gGa>gAa p.G1372E PTPRT_uc010ggj.3_Missense_Mutation_p.G1391E|PTPRT_uc010ggi.3_Missense_Mutation_p.G575E NM_007050 NP_008981 O14522 PTPRT_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA. 1372 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity p.G1394E(1) NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACAGTACGTCCCTCCCTCCC 0.612000 10 6 0 0 0.003080 0 0 OR10H1 26539 broad.mit.edu 37 19 15918182 15918182 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15918182G>A uc002nbq.2 - 0 755 c.666C>T c.(664-666)atC>atT p.I222I NM_013940 NP_039228 Q9Y4A9 O10H1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA. 222 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 TGGCGGCCACGATGAAGGCAT 0.577000 27 27 0 0 0.006999 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879294 3879294 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:3879294A>C uc002kmf.3 - 3 1302 c.775T>G c.(775-777)Tgc>Ggc p.C259G DLGAP1_uc010wyz.2_Missense_Mutation_p.C259G|DLGAP1_uc002kmk.2_Missense_Mutation_p.C259G|LOC201477_uc002kml.1_Intron NM_004746 NP_004737 O14490 DLGP1_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA. 259 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane p.C259Y(1) breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CAGGTGGAGCACTTGACGTCG 0.662000 35 13 0 0 0.002450 0 0 INPP5D 3635 broad.mit.edu 37 2 234072371 234072371 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234072371A>C uc010zmo.2 + 10 1325 c.1172A>C c.(1171-1173)aAg>aCg p.K391T INPP5D_uc010zmp.2_Missense_Mutation_p.K390T NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 420 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) CCCCCTCCCAAGAAGATCACG 0.537000 49 39 0 0 0.003610 0 0 CLCN1 1180 broad.mit.edu 37 7 143029561 143029561 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143029561T>A uc003wcr.1 + 10 1303 c.1216T>A c.(1216-1218)Ttc>Atc p.F406I CLCN1_uc011ktc.1_Missense_Mutation_p.F68I NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 406 muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) CTCATTCACCTTCCCACCAGG 0.483000 45 24 0 0 0.007291 0 0 KRT5 3852 broad.mit.edu 37 12 52914057 52914057 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:52914057G>A uc001san.3 - 0 187 c.24C>T c.(22-24)tcC>tcT p.S8S KRT5_uc009zmh.3_Silent_p.S8S NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 8 Head. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) CGCTCCGGAAGGACACACTTG 0.637000 1 7 0 0 0.006214 0 0 SCG3 29106 broad.mit.edu 37 15 51993421 51993421 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:51993421G>A uc002abh.3 + 9 1590 c.1187G>A c.(1186-1188)gGa>gAa p.G396E SCG3_uc010ufz.2_Missense_Mutation_p.G164E NM_013243 NP_001158729 Q8WXD2 SCG3_HUMAN Homo sapiens secretogranin III (SCG3), transcript variant 1, mRNA. 396 platelet activation|platelet degranulation extracellular region|stored secretory granule breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all cancers(107;0.00488) AACCCAGGAGGAAAGACAGAT 0.433000 23 9 0 0 0.006214 0 0 POU5F1B 5462 broad.mit.edu 37 8 128428624 128428624 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:128428624G>A uc003ysf.3 + 0 768 c.513G>A c.(511-513)ctG>ctA p.L171L LOC727677_uc003ysc.1_Intron|LOC727677_uc003ysd.1_Intron|LOC727677_uc003yse.1_Intron|POU5F1B_uc011liu.1_5'Flank NM_001159542 NP_001153014 Q06416 P5F1B_HUMAN Homo sapiens POU class 5 homeobox 1B (POU5F1B), mRNA. 171 POU-specific. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|prostate(1)|urinary_tract(1) 3 GGCTCATCCTGGGGGTTCTAT 0.522000 10 6 0 0 0.001168 0 0 PDE4DIP 9659 broad.mit.edu 37 1 145015920 145015920 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:145015920G>A uc001elx.4 - 2 551 c.168C>T c.(166-168)tcC>tcT p.S56S NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Silent_p.S56S|PDE4DIP_uc001elo.3_Silent_p.S127S|PDE4DIP_uc001emh.3_Silent_p.S127S|BX647792_uc001emj.3_Intron NM_001198832 NP_001185761 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA. 0 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATGCTCTCAAGGAATATGTCT 0.453000 T PDGFRB MPD 441 41 0 0 0.002222 0 0 MUC16 94025 broad.mit.edu 37 19 9070177 9070177 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9070177C>T uc002mkp.3 - 2 17473 c.17269G>A c.(17269-17271)Gat>Aat p.D5757N NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 5759 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 ACACTTGTATCCCCCATGGCG 0.468000 55 34 0 0 0.001951 0 0 ACPT 93650 broad.mit.edu 37 19 51297146 51297146 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:51297146G>A uc002pta.1 + 8 779 c.779_splice c.e8-1 p.G260_splice NM_033068 NP_149059 Q9BZG2 PPAT_HUMAN Homo sapiens acid phosphatase, testicular (ACPT), mRNA. 260 integral to membrane acid phosphatase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3) 11 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CATCCTCAGGGATCCTGCTGA 0.592000 83 46 0 0 0.003610 0 0 NEDD4L 23327 broad.mit.edu 37 18 56063468 56063468 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:56063468G>A uc002lgy.3 + 30 3178 c.2895G>A c.(2893-2895)gtG>gtA p.V965V NEDD4L_uc002lgz.3_Silent_p.V901V|NEDD4L_uc002lgx.3_Silent_p.V945V|NEDD4L_uc010xee.1_Silent_p.V844V|NEDD4L_uc002lhc.2_Silent_p.V957V|NEDD4L_uc002lhd.2_Silent_p.V844V|NEDD4L_uc002lhb.2_Silent_p.V824V|NEDD4L_uc002lhe.2_Silent_p.V937V|NEDD4L_uc002lhf.3_Silent_p.V824V|NEDD4L_uc002lhg.3_Silent_p.V844V|NEDD4L_uc002lhh.2_Silent_p.V740V NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA. 965 HECT. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TCATGGCCGTGGAAAATGCTC 0.438000 7 7 0 0 0.001984 0 0 HACL1 26061 broad.mit.edu 37 3 15604946 15604947 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:15604946_15604947GG>AA uc003caf.3 - 15 1782_1783 c.1622_1623CC>TT c.(1621-1623)tcc>tTT p.S541F HACL1_uc011avr.1_Non-coding_Transcript|HACL1_uc010hep.3_Missense_Mutation_p.S300F|HACL1_uc011avs.2_Missense_Mutation_p.S514F|HACL1_uc011avt.2_Missense_Mutation_p.S481F|HACL1_uc003cag.3_Missense_Mutation_p.S185F|HACL1_uc011avu.2_Missense_Mutation_p.S459F NM_012260 NP_036392 Q9UJ83 HACL1_HUMAN Homo sapiens 2-hydroxyacyl-CoA lyase 1 (HACL1), mRNA. 541 fatty acid alpha-oxidation peroxisomal matrix carbon-carbon lyase activity|identical protein binding|magnesium ion binding|thiamine pyrophosphate binding NS(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 16 TCTGCCTCAGGGATTTTTGGAG 0.446000 12 13 0 0 0.004672 0 0 STEAP4 79689 broad.mit.edu 37 7 87912231 87912231 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:87912231G>A uc022agz.1 - 3 932 c.709C>T c.(709-711)Cgt>Tgt p.R237C STEAP4_uc003ujs.3_Missense_Mutation_p.R237C|STEAP4_uc010lek.3_Intron NM_001205315 NP_001192244 Q687X5 STEA4_HUMAN Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA. 237 fat cell differentiation|ion transport|iron ion homeostasis Golgi membrane|integral to membrane|plasma membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3) 15 Esophageal squamous(14;0.00802) ATAGCCATACGAAATGTATTA 0.363000 36 16 0 0 0.006122 0 0 WHSC1L1 54904 broad.mit.edu 37 8 38133953 38133953 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:38133953C>T uc003xli.3 - 22 4451 c.3933G>A c.(3931-3933)aaG>aaA p.K1311K WHSC1L1_uc011lbm.2_Silent_p.K1300K|WHSC1L1_uc010lwe.3_Silent_p.K1262K|WHSC1L1_uc003xlh.3_Silent_p.K90K NM_023034 NP_075447 Q9BZ95 NSD3_HUMAN Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA. 1311 cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome histone-lysine N-methyltransferase activity|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 Colorectal(12;0.000442)|Esophageal squamous(3;0.0725) all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065) Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511) CTGTTTTGATCTTTCGTCTCT 0.403000 T NUP98 AML 3 8 0 0 0.004482 0 0 POTEG 404785 broad.mit.edu 37 14 19573136 19573136 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:19573136G>A uc001vuz.1 + 7 1286 c.1234G>A c.(1234-1236)Gat>Aat p.D412N POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript NM_001005356 NP_001005356 Q6S5H5 POTEG_HUMAN Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA. 412 cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 47 TAAGGGTGGTGATAGAAAGGT 0.323000 45 5 0 0 0.003080 0 0 SUPT6H 6830 broad.mit.edu 37 17 27010010 27010011 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:27010010_27010011CC>TT uc010crt.3 + 15 1970_1971 c.1778_1779CC>TT c.(1777-1779)gcc>gTT p.A593V SUPT6H_uc002hby.3_Missense_Mutation_p.A593V NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 593 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) TACATGGTAGCCCTGCAGATTG 0.559000 13 7 0 0 0.004672 0 0 C8orf4 56892 broad.mit.edu 37 8 40011065 40011065 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:40011065G>A uc003xnq.2 + 0 79 c.14G>A c.(13-15)cGa>cAa p.R5Q NM_020130 NP_064515 Q9NR00 CH004_HUMAN Homo sapiens chromosome 8 open reading frame 4 (C8orf4), mRNA. 5 apoptosis breast(1)|large_intestine(1)|ovary(1) 3 Ovarian(28;0.0173) all_cancers(7;5.34e-21)|all_epithelial(6;1.04e-14)|Lung NSC(58;9.35e-06)|all_lung(54;1.39e-05)|Hepatocellular(245;0.00745)|Breast(189;0.0334)|Colorectal(162;0.0815)|Myeloproliferative disorder(644;0.116)|Esophageal squamous(32;0.141) LUSC - Lung squamous cell carcinoma(45;0.000149) KIRC - Kidney renal clear cell carcinoma(67;0.0923)|Kidney(114;0.111) AAAGCAAAGCGAAGCCACCAA 0.517000 8 13 0 0 0.002450 0 0 IKBKAP 8518 broad.mit.edu 37 9 111673345 111673345 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:111673345C>T uc004bdm.4 - 11 1825 c.1305G>A c.(1303-1305)aaG>aaA p.K435K IKBKAP_uc004bdl.3_Silent_p.K86K|IKBKAP_uc011lwc.2_Silent_p.K321K|IKBKAP_uc010mtq.3_Silent_p.K86K NM_003640 NP_003631 O95163 ELP1_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA. 435 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA-directed RNA polymerase II, holoenzyme|cytoplasm|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 GGTCATTACTCTTTTGAGGGT 0.443000 38 25 0 0 0.006320 0 0 TRPM4 54795 broad.mit.edu 37 19 49671637 49671637 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49671637C>T uc002pmw.3 + 4 677 c.569C>T c.(568-570)cCc>cTc p.P190L TRPM4_uc010emu.3_Missense_Mutation_p.P190L|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_Missense_Mutation_p.P16L|TRPM4_uc010emv.3_Intron|TRPM4_uc010yal.2_Intron NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 190 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GGTGTGGCCCCCTGGGGTGTG 0.647000 41 17 0 0 0.004990 0 0 ABAT 18 broad.mit.edu 37 16 8870231 8870231 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:8870231G>A uc002czc.4 + 13 1319 c.1153G>A c.(1153-1155)Gac>Aac p.D385N ABAT_uc002czd.4_Missense_Mutation_p.D385N|ABAT_uc010buh.3_Missense_Mutation_p.D327N|ABAT_uc010bui.3_Missense_Mutation_p.D385N NM_020686 NP_065737 P80404 GABT_HUMAN Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 385 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) CTGGCTGGGGGACCCGTCCAA 0.582000 26 27 0 0 0.001512 0 0 FAM135B 51059 broad.mit.edu 37 8 139160883 139160883 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:139160883C>T uc003yuy.3 - 13 3499 c.3328G>A c.(3328-3330)Gga>Aga p.G1110R FAM135B_uc003yux.3_Missense_Mutation_p.G1011R|FAM135B_uc003yuz.3_Intron|FAM135B_uc003yva.3_Missense_Mutation_p.G672R|FAM135B_uc003yvb.3_Intron NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1110 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TACAGAAATCCTTCAATCTTC 0.358000 HNSCC(54;0.14) 20 9 0 0 0.000673 0 0 ZADH2 284273 broad.mit.edu 37 18 72914262 72914262 + Nonsense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:72914262A>T uc002llx.3 - 1 511 c.243T>A c.(241-243)taT>taA p.Y81* ZADH2_uc010dqv.3_5'UTR NM_175907 NP_787103 Q8N4Q0 ZADH2_HUMAN Homo sapiens zinc binding alcohol dehydrogenase domain containing 2 (ZADH2), mRNA. 81 peroxisome oxidoreductase activity|zinc ion binding endometrium(3)|large_intestine(3)|lung(8)|skin(1) 15 Esophageal squamous(42;0.131)|Prostate(75;0.155) READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216) GGCCTGCTGAATAGTTGATGT 0.443000 13 14 0 0 0.001855 0 0 OR2C3 81472 broad.mit.edu 37 1 247695288 247695288 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:247695288C>T uc021pmb.1 - 0 526 c.526G>A c.(526-528)Gac>Aac p.D176N C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.D176N NM_198074 NP_932340 Q8N628 OR2C3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA. 176 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2) 43 all_cancers(71;4.51e-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) all_cancers(173;0.0242) OV - Ovarian serous cystadenocarcinoma(106;0.0241) AAGAAGTGGTCGATGCAATTG 0.552000 8 11 0 0 0.000978 0 0 OR10H3 26532 broad.mit.edu 37 19 15852473 15852473 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15852473C>T uc010xoq.2 + 0 271 c.271C>T c.(271-273)Cgt>Tgt p.R91C NM_013938 NP_039226 O60404 O10H3_HUMAN Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA. 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 17 CTTCACCCATCGTTCCATCAC 0.498000 240 67 0 0 0.003610 0 0 ZNF180 7733 broad.mit.edu 37 19 44983505 44983505 + Missense_Mutation SNP G A A rs138817761 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44983505G>A uc002ozf.4 - 3 611 c.329C>T c.(328-330)tCt>tTt p.S110F ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Missense_Mutation_p.S83F|ZNF180_uc002ozg.4_Missense_Mutation_p.S109F|ZNF180_uc010ejm.3_Missense_Mutation_p.S85F NM_013256 NP_037388 Q9UJW8 ZN180_HUMAN Homo sapiens zinc finger protein 180 (ZNF180), mRNA. 110 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1) 33 Prostate(69;0.0435) CTTACCCCAAGAGACTAGGTC 0.463000 48 20 0 0 0.002780 0 0 DSC2 1824 broad.mit.edu 37 18 28659828 28659828 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:28659828G>A uc002kwl.4 - 10 2102 c.1648C>T c.(1648-1650)Ctt>Ttt p.L550F DSC2_uc002kwk.4_Missense_Mutation_p.L550F NM_024422 NP_077740 Q02487 DSC2_HUMAN Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA. 550 Cadherin 4. homophilic cell adhesion desmosome|integral to membrane calcium ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1) 21 OV - Ovarian serous cystadenocarcinoma(10;0.0241) TCTGATGCAAGGACTGTAATA 0.378000 57 21 0 0 0.002299 0 0 CARS2 79587 broad.mit.edu 37 13 111303383 111303383 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:111303383G>A uc001vrd.2 - 9 1092 c.1052C>T c.(1051-1053)tCa>tTa p.S351L CARS2_uc010tjm.1_Non-coding_Transcript NM_024537 NP_078813 Q9HA77 SYCM_HUMAN Homo sapiens cysteinyl-tRNA synthetase 2, mitochondrial (putative) (CARS2), nuclear gene encoding mitochondrial protein, mRNA. 351 cysteinyl-tRNA aminoacylation cytosol|mitochondrial matrix ATP binding|cysteine-tRNA ligase activity|metal ion binding autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1) 13 all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148) BRCA - Breast invasive adenocarcinoma(86;0.163) L-Cysteine(DB00151) CGGCTCACCTGAGCGGTAGCT 0.562000 37 22 0 0 0.002299 0 0 ZNF142 7701 broad.mit.edu 37 2 219508735 219508735 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:219508735G>A uc002vin.3 - 7 2940 c.2504C>T c.(2503-2505)gCc>gTc p.A835V ZNF142_uc002vil.3_Missense_Mutation_p.A796V|ZNF142_uc010fvt.3_Missense_Mutation_p.A672V|ZNF142_uc002vim.3_Missense_Mutation_p.A672V NM_001105537 NP_001099007 P52746 ZN142_HUMAN Homo sapiens zinc finger protein 142 (ZNF142), mRNA. 835 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) GCAGCGGAAGGCTCGCCCCTC 0.607000 77 29 0 0 0.006320 0 0 LRRIQ1 84125 broad.mit.edu 37 12 85515612 85515612 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:85515612G>A uc001tac.3 + 15 3626 c.3515G>A c.(3514-3516)cGa>cAa p.R1172Q LRRIQ1_uc021rbo.1_Missense_Mutation_p.R1050Q NM_001079910 NP_001073379 Q96JM4 LRIQ1_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA. 1172 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 83 GBM - Glioblastoma multiforme(134;0.212) TCTCAGATTCGAGAATTCAAC 0.343000 27 15 0 0 0.006122 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130341230 130341230 + Missense_Mutation SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:130341230G>T uc010scd.2 + 6 2030 c.2030G>T c.(2029-2031)gGa>gTa p.G677V NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 677 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G676E(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 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;0.0631)|Lung(977;0.215) GTGTGTGGGGGAGACAATAAG 0.572000 24 12 4.14922e-12 5.18281e-12 0.004007 1 0 CHD5 26038 broad.mit.edu 37 1 6202251 6202251 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:6202251C>T uc001amb.2 - 14 2484 c.2373G>A c.(2371-2373)cgG>cgA p.R791R CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript NM_015557 NP_056372 Q8TDI0 CHD5_HUMAN Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA. 791 Helicase ATP-binding. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) ACTCGTTCTCCCGAATCACCG 0.557000 67 37 0 0 0.005524 0 0 ZSCAN4 201516 broad.mit.edu 37 19 58189852 58189852 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:58189852G>A uc002qpu.3 + 4 1578 c.881G>A c.(880-882)gGa>gAa p.G294E NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA. 294 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1) 30 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGCAATGAGGGAAATTCCACA 0.473000 40 17 0 0 0.004990 0 0 KIAA0754 643314 broad.mit.edu 37 1 39880054 39880054 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:39880054C>T uc009vvt.1 + 0 4879 c.4117C>T c.(4117-4119)Ctt>Ttt p.L1373F MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron NM_015038 NP_055853 O94854 K0754_HUMAN Homo sapiens KIAA0754 (KIAA0754), mRNA. 1237 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CAAGGAGGACCTTGATTCCCT 0.488000 12 7 0 0 0.001984 0 0 FAM86DP 692099 broad.mit.edu 37 3 75476679 75476679 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:75476679G>C uc003dpp.4 - 5 745 c.386C>G c.(385-387)gCc>gGc p.A129G FAM86DP_uc003dps.4_Intron|FAM86DP_uc003dpq.4_Missense_Mutation_p.A37G|FAM86DP_uc003dpr.4_Intron Homo sapiens family with sequence similarity 86, member D, pseudogene (FAM86DP), non-coding RNA. GTCTAAGTTGGCAGTGATGTC 0.582000 32 4 0 0 0.001984 0 0 TTN 7273 broad.mit.edu 37 2 179422840 179422840 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179422840C>T uc021vsy.1 - 276 79762 c.79537G>A c.(79537-79539)Gat>Aat p.D26513N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D20208N|TTN_uc021vta.1_Missense_Mutation_p.D20141N|TTN_uc021vtb.1_Missense_Mutation_p.D20016N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 27440 Fibronectin type-III 93. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.K26512R(1) 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) GGGACACCATCTCTTGATAAG 0.423000 49 29 0 0 0.006320 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370229 86370229 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:86370229C>T uc001vll.1 - 1 874 c.415G>A c.(415-417)Gaa>Aaa p.E139K SLITRK6_uc021rla.1_Missense_Mutation_p.E139K NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 139 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGCAGGAATTCCAGGTTTTCC 0.363000 41 28 0 0 0.004656 0 0 FAM113B 91523 broad.mit.edu 37 12 47629420 47629420 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:47629420G>A uc001rpq.3 + 1 1099 c.574G>A c.(574-576)Gaa>Aaa p.E192K FAM113B_uc001rpn.3_Missense_Mutation_p.E192K|FAM113B_uc021qxi.1_Missense_Mutation_p.E192K NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 192 hydrolase activity NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) CCTGAAAAACGAAGTGGTCAA 0.582000 21 8 0 0 0.003080 0 0 CNBP 7555 broad.mit.edu 37 3 128889945 128889945 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:128889945G>A uc021xdu.1 - 2 413 c.399C>T c.(397-399)gaC>gaT p.D133D CNBP_uc021xdt.1_Silent_p.D126D|CNBP_uc003elr.4_Silent_p.D124D|CNBP_uc003elq.4_Silent_p.D131D|CNBP_uc021xdv.1_Silent_p.D125D|CNBP_uc021xdw.1_Silent_p.D132D|CNBP_uc011bku.2_Silent_p.D114D NM_001127192 NP_001120664 P62633 CNBP_HUMAN Homo sapiens CCHC-type zinc finger, nucleic acid binding protein (CNBP), transcript variant 1, mRNA. 131 cholesterol biosynthetic process endoplasmic reticulum DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding biliary_tract(1)|endometrium(1)|kidney(1)|lung(2) 5 CTTTGGTGCAGTCTTTTTGAA 0.433000 17 19 0 0 0.003330 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232888 1232888 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:1232888C>T uc003jby.2 + 2 447 c.324C>T c.(322-324)tcC>tcT p.S108S NM_182632 NP_872438 Q96N87 S6A18_HUMAN Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA. 108 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) TCACGCTGTCCTTCCTGATCA 0.622000 38 14 0 0 0.001855 0 0 POU6F1 5463 broad.mit.edu 37 12 51584284 51584284 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:51584284C>T uc001rxy.3 - 4 844 c.652G>A c.(652-654)Gaa>Aaa p.E218K POU6F1_uc001rxz.3_Missense_Mutation_p.E218K|POU6F1_uc001rya.3_Missense_Mutation_p.E218K NM_002702 NP_002693 Q14863 PO6F1_HUMAN Homo sapiens POU class 6 homeobox 1 (POU6F1), transcript variant 1, mRNA. 218 brain development|heart development|muscle organ development nucleus sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 11 TGCTGGCCTTCCTGGTTCCGC 0.572000 91 49 0 0 0.003610 0 0 AKR1D1 6718 broad.mit.edu 37 7 137790091 137790091 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:137790091C>T uc003vtz.3 + 4 582 c.495C>T c.(493-495)tcC>tcT p.S165S AKR1D1_uc011kqd.1_Non-coding_Transcript|AKR1D1_uc011kqb.1_Silent_p.S165S|AKR1D1_uc011kqc.1_Non-coding_Transcript|AKR1D1_uc011kqf.2_Intron|AKR1D1_uc011kqe.1_Silent_p.S165S|AKR1D1_uc010lmy.1_Non-coding_Transcript NM_005989 NP_005980 P51857 AK1D1_HUMAN Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA. 165 C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion cytosol aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 23 TGGTGAAATCCCTGGGAGTGT 0.483000 81 33 0 0 0.002445 0 0 SAP130 79595 broad.mit.edu 37 2 128747283 128747283 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:128747283G>A uc010fmd.2 - 12 1845 c.1713C>T c.(1711-1713)atC>atT p.I571I SAP130_uc002tpn.2_Silent_p.I332I|SAP130_uc002tpp.2_Silent_p.I571I|SAP130_uc002tpq.1_Silent_p.I544I NM_001145928 NP_001139400 Q9H0E3 SP130_HUMAN Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA. 571 histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent STAGA complex transcription coactivator activity NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2) 45 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0771) GGGCCGGCTGGATACCCTGGG 0.567000 34 24 0 0 0.004656 0 0 KIAA1199 57214 broad.mit.edu 37 15 81171205 81171206 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:81171205_81171206GG>AA uc002bfw.1 + 2 498_499 c.238_239GG>AA c.(238-240)gga>AAa p.G80K KIAA1199_uc010unn.1_Missense_Mutation_p.G80K NM_018689 NP_061159 Q8WUJ3 K1199_HUMAN Homo sapiens KIAA1199 (KIAA1199), mRNA. 80 G8. breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CATCTCAGAGGGAGGTAAGCCA 0.545000 50 21 0 0 0.004672 0 0 OR1E1 8387 broad.mit.edu 37 17 3300968 3300968 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:3300968G>A uc002fvj.1 - 0 737 c.737C>T c.(736-738)tCt>tTt p.S246F NM_003553 NP_003544 P30953 OR1E1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily E, member 1 (OR1E1), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(2)|lung(5) 10 TGACACCACAGACAGGTGGGA 0.463000 16 18 0 0 0.007413 0 0 USP43 124739 broad.mit.edu 37 17 9583588 9583588 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:9583588C>T uc010cod.3 + 5 1010 c.1010C>T c.(1009-1011)tCt>tTt p.S337F USP43_uc002gma.4_Missense_Mutation_p.S26F|USP43_uc010vva.2_Missense_Mutation_p.S337F|USP43_uc010coe.3_Missense_Mutation_p.S134F NM_153210 NP_694942 Q70EL4 UBP43_HUMAN Homo sapiens ubiquitin specific peptidase 43 (USP43), mRNA. 337 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 TTCCAGCGGTCTTTCTTTGAT 0.438000 15 23 0 0 0.003954 0 0 PRDM12 59335 broad.mit.edu 37 9 133543581 133543581 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:133543581G>A uc004bzt.1 + 2 511 c.451G>A c.(451-453)Gat>Aat p.D151N NM_021619 NP_067632 Q9H4Q4 PRD12_HUMAN Homo sapiens PR domain containing 12 (PRDM12), mRNA. 151 SET. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.I150I(1) kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 11 all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534) OV - Ovarian serous cystadenocarcinoma(145;0.000344) CTACTTCATCGATGCCAGCCA 0.567000 29 14 0 0 0.001855 0 0 SLC6A3 6531 broad.mit.edu 37 5 1403047 1403047 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:1403047G>A uc003jck.3 - 12 1883 c.1757C>T c.(1756-1758)tCc>tTc p.S586F NM_001044 NP_001035 Q01959 SC6A3_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA. 586 Interaction with TGFB1I1. cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) CTCTCGAAAGGACCCAGGCAG 0.642000 10 7 0 0 0.006214 0 0 DLGAP5 9787 broad.mit.edu 37 14 55647412 55647412 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:55647412G>A uc001xbs.3 - 5 882 c.665C>T c.(664-666)tCt>tTt p.S222F DLGAP5_uc001xbt.3_Missense_Mutation_p.S222F NM_014750 NP_055565 Q15398 DLGP5_HUMAN Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA. 222 cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition nucleus|spindle pole centrosome phosphoprotein phosphatase activity|protein binding biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 44 TGCTGTGGTAGATGAGACTGT 0.448000 84 22 0 0 0.003954 0 0 SLC2A5 6518 broad.mit.edu 37 1 9098036 9098036 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:9098036G>A uc001apo.3 - 10 1514 c.1222C>T c.(1222-1224)Cgg>Tgg p.R408W SLC2A5_uc010nzy.2_Missense_Mutation_p.R349W|SLC2A5_uc010nzz.2_Missense_Mutation_p.R293W|SLC2A5_uc010oaa.2_Missense_Mutation_p.R364W NM_003039 NP_003030 P22732 GTR5_HUMAN Homo sapiens solute carrier family 2 (facilitated glucose/fructose transporter), member 5 (SLC2A5), transcript variant 1, mRNA. 408 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity p.R408R(1) endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GCAGATGGCCGAGAGGACTGC 0.647000 16 12 0 0 0.000978 0 0 ATP2C2 9914 broad.mit.edu 37 16 84456094 84456094 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:84456094C>T uc010chj.3 + 7 812 c.723C>T c.(721-723)acC>acT p.T241T ATP2C2_uc002fhx.3_Silent_p.T241T|ATP2C2_uc002fhy.3_Silent_p.T258T|ATP2C2_uc002fhz.3_Silent_p.T90T NM_014861 NP_055676 O75185 AT2C2_HUMAN Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA. 241 ATP biosynthetic process Golgi membrane|integral to membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1) 33 ACCTCACCACCCTCAGCAACA 0.612000 46 22 0 0 0.002780 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351226 36351226 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:36351226C>T uc002ocb.4 + 5 913 c.701C>T c.(700-702)tCg>tTg p.S234L KIRREL2_uc002obz.4_Missense_Mutation_p.S234L|KIRREL2_uc002oca.4_Missense_Mutation_p.S184L|KIRREL2_uc002ocd.4_Missense_Mutation_p.S231L NM_199180 NP_954649 Q6UWL6 KIRR2_HUMAN Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA. 234 Ig-like C2-type 3. cell adhesion integral to membrane|plasma membrane p.S234L(3) breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CTGTCTGCTTCGCCACACACT 0.602000 7 7 0 0 0.006214 0 0 ADAMTS6 11174 broad.mit.edu 37 5 64537968 64537968 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:64537968G>A uc003jtp.3 - 14 2710 c.1896C>T c.(1894-1896)ttC>ttT p.F632F ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Silent_p.F253F NM_197941 NP_922932 Q9UKP5 ATS6_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA. 632 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3) 18 Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235) Lung(70;0.00942) ACTTTCCTCGGAAAGGCATAT 0.368000 16 21 0 0 0.006320 0 0 PEG3 5178 broad.mit.edu 37 19 57335922 57335922 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:57335922G>A uc002qnu.2 - 0 453 c.102C>T c.(100-102)atC>atT p.I34I PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.I34I|PEG3_uc002qnv.2_Silent_p.I34I|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Silent_p.I34I NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 34 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CTTCTCCTATGATGACATCCG 0.483000 39 22 0 0 0.002299 0 0 TMPRSS13 84000 broad.mit.edu 37 11 117779500 117779500 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:117779500C>T uc001prs.2 - 9 1256 c.1110_splice c.e9-1 p.V370_splice TMPRSS13_uc009yzr.2_Splice_Site_p.V335_splice|TMPRSS13_uc021qrc.1_Splice_Site_p.V370_splice|TMPRSS13_uc001prt.1_Splice_Site_p.V49_splice|TMPRSS13_uc001pru.2_Intron NM_001077263 NP_001070731 Q9BYE2 TMPSD_HUMAN Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA. 365 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1) 20 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106) CTCCCGGGTCCTGCAAGAGCC 0.617000 5 11 0 0 0.003163 0 0 PTGS2 5743 broad.mit.edu 37 1 186648524 186648524 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:186648524C>T uc001gsb.3 - 1 236 c.99G>A c.(97-99)atG>atA p.M33I PTGS2_uc009wyo.3_5'UTR NM_000963 NP_000954 P35354 PGH2_HUMAN Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA. 33 EGF-like. cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 27 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154) ATCCCACACTCATACATACAC 0.408000 23 16 0 0 0.004007 0 0 CLTCL1 8218 broad.mit.edu 37 22 19222165 19222165 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:19222165G>A uc021wle.1 - 6 1109 c.1034C>T c.(1033-1035)cCa>cTa p.P345L CLTCL1_uc021wld.1_Missense_Mutation_p.P345L|CLTCL1_uc021wlc.1_Missense_Mutation_p.P345L|CLTCL1_uc021wlf.1_Missense_Mutation_p.P345L|CLTCL1_uc011agw.1_Missense_Mutation_p.P345L NM_007098 NP_009029 P53675 CLH2_HUMAN Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA. 345 Globular terminal domain. anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network protein binding|signal transducer activity|structural molecule activity breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Colorectal(54;0.0993) ACCAAGGTCTGGATTCTGAAG 0.478000 T ? ALCL 73 37 0 0 0.006999 0 0 PCSK1 5122 broad.mit.edu 37 5 95730586 95730586 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:95730586C>T uc003kls.2 - 12 2105 c.1866G>A c.(1864-1866)aaG>aaA p.K622K PCSK1_uc010jbi.2_Silent_p.K312K|PCSK1_uc021ybq.1_Silent_p.K575K NM_000439 NP_000430 P29120 NEC1_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA. 622 cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GATCCACCATCTTCTCCACCC 0.502000 17 27 0 0 0.001786 0 0 HS3ST2 9956 broad.mit.edu 37 16 22926633 22926633 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:22926633T>G uc002dli.3 + 1 926 c.854T>G c.(853-855)aTg>aGg p.M285R NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA. 285 Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1) 19 GBM - Glioblastoma multiforme(48;0.0299) GCCGGCGAGATGGGGCGAGTC 0.522000 87 24 0 0 0.003330 0 0 HADHB 3032 broad.mit.edu 37 2 26501646 26501646 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:26501646C>T uc002rgz.3 + 7 858 c.607C>T c.(607-609)Cga>Tga p.R203* HADHB_uc010ykv.2_Nonsense_Mutation_p.R181*|HADHB_uc010ykw.2_Nonsense_Mutation_p.R188*|HADHB_uc010ykx.2_Nonsense_Mutation_p.R129* NM_000183 NP_000174 P55084 ECHB_HUMAN Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit (HADHB), nuclear gene encoding mitochondrial protein, mRNA. 203 fatty acid beta-oxidation mitochondrial nucleoid 3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acyltransferase activity|enoyl-CoA hydratase activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTCTAAATTCCGATTTAATTT 0.438000 44 16 0 0 0.007413 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665924 8665924 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8665924C>T uc002mkj.1 - 5 972 c.698G>A c.(697-699)cGa>cAa p.R233Q ADAMTS10_uc002mkk.1_5'UTR NM_030957 NP_112219 Q9H324 ATS10_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA. 233 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GCTGACCGATCGCTTCAGGCC 0.647000 37 21 0 0 0.001882 0 0 ZNF600 162966 broad.mit.edu 37 19 53270581 53270581 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:53270581G>A uc002qab.4 - 2 714 c.428C>T c.(427-429)tCc>tTc p.S143F ZNF600_uc021uyz.1_Missense_Mutation_p.S143F NM_198457 NP_940859 Q6ZNG1 ZN600_HUMAN Homo sapiens zinc finger protein 600 (ZNF600), mRNA. 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) AGAATTCGGGGAATTATTCCC 0.393000 77 36 0 0 0.003271 0 0 NRK 203447 broad.mit.edu 37 X 105137869 105137869 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105137869G>A uc004emd.3 + 5 726 c.423G>A c.(421-423)gtG>gtA p.V141V NRK_uc010npc.1_5'UTR NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Homo sapiens Nik related kinase (NRK), mRNA. 141 Protein kinase. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 CTGATGTAGTGAGAATGACCA 0.383000 HNSCC(51;0.14) 5 15 0 0 0.004990 0 0 EPS8L3 79574 broad.mit.edu 37 1 110299788 110299788 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:110299788C>T uc001dyr.2 - 12 1195 c.970_splice c.e12-1 p.I324_splice EPS8L3_uc001dys.2_Splice_Site_p.I324_splice|EPS8L3_uc001dyq.2_Splice_Site_p.I325_splice|EPS8L3_uc009wfm.2_Splice_Site_p.I291_splice|EPS8L3_uc009wfn.2_Splice_Site_p.I299_splice|EPS8L3_uc009wfo.2_Splice_Site_p.I271_splice NM_133181 NP_573444 Q8TE67 ES8L3_HUMAN Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA. 324 cytoplasm protein binding breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1) 32 all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269) Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141) TGGCCAGGATCTAGGGGAGAG 0.592000 10 5 0 0 0.000602 0 0 OR11H12 440153 broad.mit.edu 37 14 19378093 19378093 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:19378093G>A uc010tkp.2 + 0 500 c.500G>A c.(499-501)gGa>gAa p.G167E NM_001013354 NP_001013372 B2RN74 O11HC_HUMAN Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA. 167 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGTTTGTGGATTTCTGTGG 0.488000 257 23 0 0 0.006999 0 0 NLRP7 199713 broad.mit.edu 37 19 55451105 55451105 + Missense_Mutation SNP G A A rs143169084 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55451105G>A uc002qih.4 - 3 1158 c.1082C>T c.(1081-1083)tCg>tTg p.S361L NLRP7_uc010esk.3_Missense_Mutation_p.S361L|NLRP7_uc002qig.4_Missense_Mutation_p.S361L|NLRP7_uc002qii.4_Missense_Mutation_p.S361L|NLRP7_uc010esl.3_Missense_Mutation_p.S389L NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 361 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) CGCGGGGGCCGAGCCCAGCTG 0.632000 28 7 0 0 0.003080 0 0 MICAL1 64780 broad.mit.edu 37 6 109770007 109770007 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:109770007G>A uc011eaq.2 - 11 1940 c.1649C>T c.(1648-1650)tCc>tTc p.S550F MICAL1_uc003ptj.3_Missense_Mutation_p.S531F|MICAL1_uc003ptk.3_Missense_Mutation_p.S531F|MICAL1_uc010kdr.3_Missense_Mutation_p.S445F NM_022765 NP_073602 Q8TDZ2 MICA1_HUMAN Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA. 531 CH. cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) AGACAAATCGGAGACGTGGAC 0.647000 19 21 0 0 0.001523 0 0 GLRA3 8001 broad.mit.edu 37 4 175598335 175598335 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:175598335G>A uc003ity.1 - 6 1324 c.821C>T c.(820-822)tCa>tTa p.S274L GLRA3_uc003itz.1_Missense_Mutation_p.S274L NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 274 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) GATCCAGAATGAAACCCAGGA 0.478000 17 9 0 0 0.006214 0 0 SRRD 402055 broad.mit.edu 37 22 26884359 26884359 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:26884359C>T uc010gve.3 + 3 521 c.514C>T c.(514-516)Ccc>Tcc p.P172S SRRD_uc003acp.4_Missense_Mutation_p.P165S NM_001013694 NP_001013716 Q9UH36 SRR1L_HUMAN Homo sapiens SRR1 domain containing (SRRD), mRNA. 172 rhythmic process endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 CTTCTAGATTCCCAGAAGTCA 0.428000 68 50 0 0 0.003610 0 0 CTSA 5476 broad.mit.edu 37 20 44521472 44521472 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:44521472C>T uc002xqh.3 + 5 981 c.607C>T c.(607-609)Ccc>Tcc p.P203S NEURL2_uc002xqg.1_5'Flank|CTSA_uc002xqj.4_Missense_Mutation_p.P185S|CTSA_uc010zxi.2_Missense_Mutation_p.P186S|CTSA_uc002xqi.3_Non-coding_Transcript NM_000308 NP_001121167 P10619 PPGB_HUMAN Homo sapiens cathepsin A (CTSA), transcript variant 1, mRNA. 185 intracellular protein transport|proteolysis endoplasmic reticulum|lysosome|nucleus enzyme activator activity|protein binding|serine-type carboxypeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CATCTACATCCCCACCCTGGC 0.547000 25 8 0 0 0.004482 0 0 SLC12A8 84561 broad.mit.edu 37 3 124837628 124837628 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124837628G>A uc003ehw.4 - 7 1054 c.984C>T c.(982-984)ttC>ttT p.F328F SLC12A8_uc003ehv.4_Silent_p.F299F|SLC12A8_uc010hrz.1_Missense_Mutation_p.S173F|SLC12A8_uc003eht.4_Silent_p.F100F|SLC12A8_uc010hry.3_Silent_p.F52F NM_024628 NP_078904 A0AV02 S12A8_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA. 299 potassium ion transport integral to membrane symporter activity endometrium(2)|kidney(2)|lung(12) 16 CCGCTATCAGGAAGTCATAGC 0.532000 7 6 0 0 0.001984 0 0 P4HA1 5033 broad.mit.edu 37 10 74806805 74806805 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:74806805G>A uc021ptk.1 - 6 987 c.955C>T c.(955-957)Cct>Tct p.P319S P4HA1_uc010qka.2_Missense_Mutation_p.P319S|P4HA1_uc001jth.3_Missense_Mutation_p.P319S|P4HA1_uc001jtg.3_Missense_Mutation_p.P319S|P4HA1_uc010qkb.2_Missense_Mutation_p.P319S|P4HA1_uc021ptj.1_Missense_Mutation_p.P319S NM_001142595 NP_001136067 P13674 P4HA1_HUMAN Homo sapiens prolyl 4-hydroxylase, alpha polypeptide I (P4HA1), transcript variant 3, mRNA. 319 endoplasmic reticulum lumen|mitochondrion L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Prostate(51;0.0198) Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) ATAAATTTAGGATTACGGTTT 0.358000 32 20 0 0 0.001882 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147844632 147844632 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:147844632G>A uc003weu.2 + 16 3120 c.2604G>A c.(2602-2604)gaG>gaA p.E868E NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA. 868 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding p.E868D(2) NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) GGCCAGTAGAGATTGTAGTGA 0.512000 HNSCC(39;0.1) 82 51 0 0 0.003610 0 0 COL4A1 1282 broad.mit.edu 37 13 110838746 110838746 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:110838746G>A uc001vqw.4 - 25 2005 c.1883C>T c.(1882-1884)tCc>tTc p.S628F NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 628 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CAGGCCTGGGGATCCAGGGCC 0.622000 90 44 0 0 0.003610 0 0 SLC17A2 10246 broad.mit.edu 37 6 25917290 25917290 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:25917290G>A uc011dkb.2 - 5 758 c.675C>T c.(673-675)ctC>ctT p.L225L SLC17A2_uc011dkc.2_Silent_p.L225L|SLC17A2_uc003nfl.3_Silent_p.L225L O00624 NPT3_HUMAN Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA. 225 phosphate metabolic process integral to plasma membrane|membrane fraction sodium:phosphate symporter activity p.L225L(2) endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 31 TGAACCATAGGAGACAGCAGA 0.463000 10 24 0 0 0.003954 0 0 ENPEP 2028 broad.mit.edu 37 4 111397743 111397743 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:111397743C>T uc003iab.4 + 0 515 c.173C>T c.(172-174)tCc>tTc p.S58F NM_001977 NP_001968 Q07075 AMPE_HUMAN Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA. 58 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) CCAGCTCCTTCCCACCTGCCT 0.632000 52 33 0 0 0.002445 0 0 ZNF641 121274 broad.mit.edu 37 12 48738484 48738484 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:48738484G>A uc001rrn.2 - 5 722 c.460C>T c.(460-462)Ccc>Tcc p.P154S ZNF641_uc001rro.2_Missense_Mutation_p.P140S|ZNF641_uc010sls.2_Missense_Mutation_p.P131S NM_152320 NP_001166152 Q96N77 ZN641_HUMAN Homo sapiens zinc finger protein 641 (ZNF641), transcript variant 1, mRNA. 154 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TCCAGTTTGGGAATTGGAAAT 0.403000 37 23 0 0 0.004656 0 0 MEFV 4210 broad.mit.edu 37 16 3304686 3304686 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:3304686C>T uc002cun.1 - 1 422 c.382G>A c.(382-384)Gag>Aag p.E128K MEFV_uc021tbw.1_Intron|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Non-coding_Transcript|MEFV_uc021tcb.1_Intron NM_000243 NP_000234 O15553 MEFV_HUMAN Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA. 128 inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) CCGTTCCCCTCGTTCCCCTCG 0.677000 18 12 0 0 0.001368 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140250862 140250862 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140250862C>T uc003lia.2 + 0 3032 c.2174C>T c.(2173-2175)aCg>aTg p.T725M PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.T725M NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 735 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGTCGGCAACGCCCACTGAG 0.667000 8 10 0 0 0.006214 0 0 CASC4 113201 broad.mit.edu 37 15 44581414 44581414 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:44581414C>T uc001ztp.3 + 0 506 c.187C>T c.(187-189)Ctg>Ttg p.L63L CASC4_uc001ztq.3_Silent_p.L63L|CASC4_uc010bdu.2_Non-coding_Transcript|CASC4_uc001zto.2_Silent_p.L63L NM_138423 NP_612432 Q6P4E1 CASC4_HUMAN Homo sapiens cancer susceptibility candidate 4 (CASC4), transcript variant 1, mRNA. 63 integral to membrane p.L63L(1) NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2) 17 all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027) all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237) CCGCGGGCGGCTGGAAAAGCG 0.642000 22 9 0 0 0.000673 0 0 MOCS3 27304 broad.mit.edu 37 20 49576659 49576659 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:49576659C>T uc002xvy.1 + 0 1297 c.1280C>T c.(1279-1281)tCc>tTc p.S427F DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA. 427 Rhodanese. Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 ATCCTCCAGTCCTTATCAGCA 0.507000 51 25 0 0 0.003954 0 0 CAP2 10486 broad.mit.edu 37 6 17551751 17551751 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:17551751C>T uc003ncb.3 + 11 1509 c.1266C>T c.(1264-1266)taC>taT p.Y422Y CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Silent_p.Y396Y|CAP2_uc011djb.2_Silent_p.Y358Y|CAP2_uc011djc.2_Silent_p.Y310Y|CAP2_uc011djd.2_Silent_p.Y162Y NM_006366 NP_006357 P40123 CAP2_HUMAN Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA. 422 C-CAP/cofactor C-like. activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1) 27 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) GCCACATATACCTCAGTGAAG 0.398000 18 47 0 0 0.003610 0 0 NEK7 140609 broad.mit.edu 37 1 198266348 198266348 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:198266348C>T uc001gun.4 + 8 1103 c.776C>T c.(775-777)cCt>cTt p.P259L NEK7_uc021pgx.1_Missense_Mutation_p.P259L NM_133494 NP_598001 Q8TDX7 NEK7_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA. 259 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 CCACCTCTTCCTTCAGATCAC 0.338000 66 36 0 0 0.007835 0 0 NEU3 10825 broad.mit.edu 37 11 74716515 74716515 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:74716515C>T uc001ovw.3 + 2 520 c.364C>T c.(364-366)Ccc>Tcc p.P122S NEU3_uc001ovv.3_Missense_Mutation_p.P112S|NEU3_uc010rrl.2_Missense_Mutation_p.P13S NM_006656 NP_006647 A8K327 A8K327_HUMAN Homo sapiens sialidase 3 (membrane sialidase) (NEU3), mRNA. 122 kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 11 GACCATGAACCCCTGTCCTGT 0.537000 10 13 0 0 0.001368 0 0 FAT4 79633 broad.mit.edu 37 4 126369957 126369957 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:126369957G>A uc003ifj.4 + 8 7786 c.7786G>A c.(7786-7788)Gga>Aga p.G2596R FAT4_uc011cgp.2_Missense_Mutation_p.G894R|FAT4_uc003ifi.1_Missense_Mutation_p.G74R NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 2596 Cadherin 25. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTCTTTAAGAGGAGAACCTAT 0.423000 13 4 0 0 0.000248 0 0 QPRT 23475 broad.mit.edu 37 16 29708519 29708519 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:29708519G>A uc002dto.3 + 4 760 c.682_splice c.e4-1 p.E228_splice BOLA2_uc010bzb.1_Intron|QPRT_uc010vdu.2_Splice_Site NM_014298 NP_055113 Q15274 NADC_HUMAN Homo sapiens quinolinate phosphoribosyltransferase (QPRT), mRNA. 228 protein oligomerization|quinolinate catabolic process|water-soluble vitamin metabolic process cytosol nicotinate-nucleotide diphosphorylase (carboxylating) activity|protein homodimerization activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5) 9 Niacin(DB00627) GTGTCCCGCAGGAGCTGCACC 0.642000 7 5 0 0 0.001168 0 0 GLI2 2736 broad.mit.edu 37 2 121747777 121747777 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:121747777C>T uc010flp.3 + 12 4317 c.4287C>T c.(4285-4287)ccC>ccT p.P1429P GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Silent_p.P1101P|GLI2_uc002tmu.4_Silent_p.P1084P NM_005270 NP_005261 P10070 GLI2_HUMAN Homo sapiens GLI family zinc finger 2 (GLI2), mRNA. 1429 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P1429S(1) NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGGTGCCTCCCCAGCCGCCTC 0.652000 24 13 0 0 0.003163 0 0 NFE2L1 4779 broad.mit.edu 37 17 46128819 46128819 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:46128819C>T uc002imz.4 + 1 990 c.339C>T c.(337-339)gtC>gtT p.V113V NFE2L1_uc002ina.4_Silent_p.V113V|NFE2L1_uc002inb.4_Silent_p.V113V|NFE2L1_uc002inc.1_Silent_p.V113V NM_003204 NP_003195 Q14494 NF2L1_HUMAN Homo sapiens nuclear factor (erythroid-derived 2)-like 1 (NFE2L1), mRNA. 113 anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 AGGGGTCTGTCTCTGGCAGTC 0.632000 55 18 0 0 0.006122 0 0 EFCAB7 84455 broad.mit.edu 37 1 64038153 64038153 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:64038153G>A uc001dbf.3 + 13 2150 c.1856G>A c.(1855-1857)tGg>tAg p.W619* NM_032437 NP_115813 A8K855 EFCB7_HUMAN Homo sapiens EF-hand calcium binding domain 7 (EFCAB7), mRNA. 619 calcium ion binding breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 CGACAAGAATGGATATATTAT 0.239000 24 8 0 0 0.003080 0 0 CYLC2 1539 broad.mit.edu 37 9 105767357 105767357 + Silent SNP G A A rs147375715 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:105767357G>A uc004bbs.2 + 4 514 c.444G>A c.(442-444)gaG>gaA p.E148E NM_001340 NP_001331 Q14093 CYLC2_HUMAN Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA. 148 31 X 3 AA repeats of K-K-X. cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2) 41 all_hematologic(171;0.125) aggatatagagaaaggaaaag 0.358000 7 6 0 0 0.001168 0 0 C4BPA 722 broad.mit.edu 37 1 207318012 207318012 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:207318012G>A uc001hfo.3 + 11 1938 c.1744G>A c.(1744-1746)Gaa>Aaa p.E582K NM_000715 NP_000706 P04003 C4BPA_HUMAN Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA. 582 complement activation, classical pathway|innate immune response extracellular region protein binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2) 28 TGAACAACTGGAACTACAGAG 0.443000 19 8 0 0 0.006214 0 0 PDILT 204474 broad.mit.edu 37 16 20376851 20376851 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:20376851G>A uc002dhc.1 - 8 1351 c.1128C>T c.(1126-1128)tcC>tcT p.S376S NM_174924 NP_777584 Q8N807 PDILT_HUMAN Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA. 376 cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis endoplasmic reticulum isomerase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1) 61 TCTCTTCACTGGATTGATGTT 0.453000 69 30 0 0 0.002836 0 0 PLA2G2D 26279 broad.mit.edu 37 1 20442830 20442830 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:20442830C>T uc001bcz.3 - 1 198 c.181G>A c.(181-183)Gac>Aac p.D61N PLA2G2D_uc009vpo.3_Non-coding_Transcript NM_012400 NP_036532 Q9UNK4 PA2GD_HUMAN Homo sapiens phospholipase A2, group IID (PLA2G2D), mRNA. 61 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGTTACCAGTCCGTGGCATCT 0.527000 Multiple Myeloma(11;0.12) 27 20 0 0 0.001882 0 0 C10orf140 387640 broad.mit.edu 37 10 21806505 21806505 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:21806505T>C uc009xkd.3 - 3 2500 c.247A>G c.(247-249)Atc>Gtc p.I83V C10orf140_uc021pnx.1_Missense_Mutation_p.I83V|C10orf140_uc010qcs.1_Missense_Mutation_p.I83V NM_207371 NP_997254 Q1XH10 DLN1_HUMAN Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA. 83 nucleus nucleotide binding kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1) 21 TCCCGGGAGATGAGCGTGCAT 0.597000 9 9 0 0 0.004482 0 0 NPY1R 4886 broad.mit.edu 37 4 164246624 164246624 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:164246624C>T uc003iqm.2 - 2 1451 c.986G>A c.(985-987)aGa>aAa p.R329K NPY1R_uc021xtv.1_3'UTR|NPY1R_uc011cjj.2_Missense_Mutation_p.R86K NM_000909 NP_000900 P25929 NPY1R_HUMAN Homo sapiens neuropeptide Y receptor Y1 (NPY1R), mRNA. 329 inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis integral to plasma membrane protein binding p.R329K(2) breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4) 30 all_hematologic(180;0.166) Prostate(90;0.0959)|all_neural(102;0.223) CTGCAAGTCTCTCTGGAAGTT 0.423000 42 22 0 0 0.003330 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72468482 72468482 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:72468482G>A uc001jrg.3 + 3 818 c.818G>A c.(817-819)cGc>cAc p.R273H ADAMTS14_uc001jrh.3_Missense_Mutation_p.R273H NM_139155 NP_631894 Q8WXS8 ATS14_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA. 273 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.V272L(1) NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TCGGTGGTTCGCTTCCATGGC 0.617000 41 30 0 0 0.004289 0 0 ACTR5 79913 broad.mit.edu 37 20 37396215 37396215 + Missense_Mutation SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:37396215G>T uc002xjd.2 + 7 1567 c.1542G>T c.(1540-1542)atG>atT p.M514I NM_024855 NP_079131 Q9H9F9 ARP5_HUMAN Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA. 514 DNA recombination|UV-damage excision repair|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex|cytoplasm ATP binding|protein binding kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2) 12 Myeloproliferative disorder(115;0.00878) TGTTGGAGATGAGACCCTTCC 0.418000 36 19 1.56452e-12 1.95565e-12 0.007413 1 0 SLC22A12 116085 broad.mit.edu 37 11 64360946 64360946 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:64360946C>T uc001oam.1 + 2 1323 c.576C>T c.(574-576)ttC>ttT p.F192F SLC22A12_uc009ypr.1_Silent_p.F192F|SLC22A12_uc001oal.1_Intron|SLC22A12_uc009yps.1_Intron|SLC22A12_uc001oan.1_Intron|SLC22A12_uc009ypt.3_Silent_p.F10F NM_144585 NP_700357 Q96S37 S22AC_HUMAN Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA. 192 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity p.F192F(2)|p.A191D(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 CAGCTGCCTTCGCCCCTGCCT 0.612000 26 20 0 0 0.001523 0 0 ADAMTS13 11093 broad.mit.edu 37 9 136321696 136321696 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:136321696C>T uc004cdv.4 + 26 4191 c.3747C>T c.(3745-3747)acC>acT p.T1249T ADAMTS13_uc004cdp.4_Silent_p.T420T|ADAMTS13_uc004cdt.1_Silent_p.T1193T|ADAMTS13_uc004cdu.1_Silent_p.T1162T|ADAMTS13_uc004cdw.4_Silent_p.T1193T|ADAMTS13_uc004cdx.4_Silent_p.T1162T|ADAMTS13_uc004cdz.4_Silent_p.T919T|ADAMTS13_uc004cea.1_Silent_p.T45T|ADAMTS13_uc004ceb.4_Silent_p.T45T NM_139025 NP_620594 Q76LX8 ATS13_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA. 1249 CUB 1. cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis cell surface|proteinaceous extracellular matrix calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4) 36 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) GCCGGCTCACCTGGAGGAAGA 0.642000 21 6 0 0 0.000673 0 0 PEX5L 51555 broad.mit.edu 37 3 179525587 179525587 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:179525587G>A uc003fki.1 - 13 1681 c.1551C>T c.(1549-1551)acC>acT p.T517T PEX5L_uc011bqd.1_Silent_p.T474T|PEX5L_uc011bqe.1_Silent_p.T325T|PEX5L_uc011bqf.1_Silent_p.T409T|PEX5L_uc003fkj.1_Silent_p.T482T|PEX5L_uc010hxd.1_Silent_p.T515T|PEX5L_uc011bqg.1_Silent_p.T493T|PEX5L_uc011bqh.1_Silent_p.T458T NM_016559 NP_057643 Q8IYB4 PEX5R_HUMAN Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA. 517 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CGTTCGCCAAGGTCGCCCCGA 0.512000 74 39 0 0 0.002222 0 0 NOTCH1 4851 broad.mit.edu 37 9 139413214 139413214 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:139413214C>T uc004chz.3 - 5 928 c.928G>A c.(928-930)Ggg>Agg p.G310R NM_017617 NP_060087 P46531 NOTC1_HUMAN Homo sapiens notch 1 (NOTCH1), mRNA. 310 EGF-like 8; calcium-binding (Potential). Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity p.G310R(3) breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) TGGCAGGTCCCGCCGTTCTGG 0.627000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 16 14 0 0 0.001855 0 0 LPAR4 2846 broad.mit.edu 37 X 78010800 78010800 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:78010800G>A uc022bzj.1 + 0 434 c.434G>A c.(433-435)cGa>cAa p.R145Q LPAR4_uc010nme.3_Missense_Mutation_p.R145Q NM_005296 NP_005287 Q99677 LPAR4_HUMAN Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA. 145 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled p.R145Q(2) breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TATCCTTTTCGATCTCGTACT 0.463000 23 24 0 0 0.003954 0 0 CPS1 1373 broad.mit.edu 37 2 211452803 211452803 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:211452803G>A uc010fur.3 + 7 743 c.661G>A c.(661-663)Gga>Aga p.G221R CPS1_uc002vee.4_Missense_Mutation_p.G215R NM_001122633 NP_001116105 P31327 CPSM_HUMAN Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 215 Glutamine amidotransferase type-1. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity p.V221L(1) breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) GTACGGCAAAGGAAACCCCAC 0.413000 67 22 0 0 0.005443 0 0 OR4N4 283694 broad.mit.edu 37 15 22382594 22382594 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:22382594G>A uc001yuc.1 + 6 1103 c.122G>A c.(121-123)gGa>gAa p.G41E abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.G41E NM_001005241 NP_001005241 Q8N0Y3 OR4N4_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA. 41 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 40 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) ATCCTCCCTGGAAATTTTCTC 0.443000 169 53 0 0 0.003610 0 0 SLC5A2 6524 broad.mit.edu 37 16 31501826 31501826 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:31501826G>A uc002ecf.4 + 13 2008 c.1989G>A c.(1987-1989)gtG>gtA p.V663V SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 663 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TGATGGCAGTGGCCGTGTTCC 0.637000 13 5 0 0 0.000602 0 0 BAZ2B 29994 broad.mit.edu 37 2 160206705 160206705 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:160206705G>A uc002uao.3 - 27 4782 c.4377C>T c.(4375-4377)ttC>ttT p.F1459F BAZ2B_uc002uap.3_Silent_p.F1423F NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 1459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTTTCTGAAGGAATAGATTTG 0.378000 29 9 0 0 0.006214 0 0 FOCAD 54914 broad.mit.edu 37 9 20740333 20740333 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:20740333C>T uc003zog.1 + 6 749 c.386C>T c.(385-387)aCc>aTc p.T129I NM_017794 NP_060264 Q5VW36 K1797_HUMAN Homo sapiens KIAA1797 (KIAA1797), mRNA. 129 integral to membrane binding AGTATATATACCATTAGGTAA 0.284000 14 22 0 0 0.002780 0 0 GPC5 2262 broad.mit.edu 37 13 92101071 92101071 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:92101071G>A uc010tif.2 + 1 586 c.220G>A c.(220-222)Gag>Aag p.E74K NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 74 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) CAGGAAGATGGAGGAGAGATA 0.418000 37 24 0 0 0.002780 0 0 TTN 7273 broad.mit.edu 37 2 179416693 179416693 + Missense_Mutation SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179416693C>A uc021vsy.1 - 283 83455 c.83230G>T c.(83230-83232)Gtc>Ttc p.V27744F MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V21439F|TTN_uc021vta.1_Missense_Mutation_p.V21372F|TTN_uc021vtb.1_Missense_Mutation_p.V21247F NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 28671 Fibronectin type-III 102. 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) ATGCTTGAGACAAGTGGTTGG 0.438000 62 33 4.65686e-17 5.85885e-17 0.003755 1 0 PAQR8 85315 broad.mit.edu 37 6 52268165 52268165 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:52268165C>T uc003pao.4 + 1 328 c.154C>T c.(154-156)Cgc>Tgc p.R52C PAQR8_uc021zal.1_Missense_Mutation_p.R52C NM_133367 NP_588608 Q8TEZ7 MPRB_HUMAN Homo sapiens progestin and adipoQ receptor family member VIII (PAQR8), mRNA. 52 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding p.I51I(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) GCCTTACATCCGCACCGGCTA 0.607000 17 13 0 0 0.003163 0 0 TET1 80312 broad.mit.edu 37 10 70446316 70446316 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:70446316C>T uc001jok.4 + 10 5761 c.5256C>T c.(5254-5256)ccC>ccT p.P1752P NM_030625 NP_085128 Q8NFU7 TET1_HUMAN Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA. 1752 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 AGCCTGTTCCCCGTTCTGGAA 0.502000 44 21 0 0 0.001523 0 0 PLCB1 23236 broad.mit.edu 37 20 8713958 8713958 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:8713958C>T uc002wnb.3 + 18 1965 c.1962C>T c.(1960-1962)ttC>ttT p.F654F PLCB1_uc010zrb.1_Silent_p.F553F|PLCB1_uc002wna.3_Silent_p.F654F|PLCB1_uc002wnc.1_Silent_p.F553F|PLCB1_uc002wnd.1_Silent_p.F231F NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 654 PI-PLC Y-box. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AGCCAGAGTTCATGAGGAGGC 0.423000 36 20 0 0 0.001216 0 0 SAMD3 154075 broad.mit.edu 37 6 130530700 130530700 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:130530700G>A uc003qbw.3 - 4 651 c.323C>T c.(322-324)tCt>tTt p.S108F SAMD3_uc003qbx.3_Missense_Mutation_p.S108F|SAMD3_uc010kfg.1_Missense_Mutation_p.S108F|SAMD3_uc003qby.3_Missense_Mutation_p.S108F|SAMD3_uc003qbz.1_Missense_Mutation_p.S67F NM_001017373 NP_001017373 Q8N6K7 SAMD3_HUMAN Homo sapiens sterile alpha motif domain containing 3 (SAMD3), transcript variant 1, mRNA. 108 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TGGATAGAAAGATGGCATCTG 0.443000 16 17 0 0 0.001216 0 0 SLIT2 9353 broad.mit.edu 37 4 20599938 20599938 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:20599938C>T uc003gpr.1 + 32 3816 c.3612C>T c.(3610-3612)gaC>gaT p.D1204D SLIT2_uc003gps.1_Silent_p.D1196D NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1204 Laminin G-like. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 GTGACAAAGACCATATCGCGG 0.493000 70 38 0 0 0.004289 0 0 EFHB 151651 broad.mit.edu 37 3 19975238 19975238 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:19975238G>A uc003cbl.4 - 0 469 c.273C>T c.(271-273)gtC>gtT p.V91V EFHB_uc003cbm.3_Intron NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN Homo sapiens EF-hand domain family, member B (EFHB), mRNA. 91 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 AGACACTGTCGACTCCTAAAC 0.443000 30 42 0 0 0.007835 0 0 SFT2D2 375035 broad.mit.edu 37 1 168211762 168211762 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:168211762C>T uc001gfi.4 + 7 530 c.467C>T c.(466-468)gCc>gTc p.A156V TBX19_uc001gfj.4_Intron NM_199344 NP_955376 O95562 SFT2B_HUMAN Homo sapiens SFT2 domain containing 2 (SFT2D2), mRNA. 156 protein transport|vesicle-mediated transport integral to membrane lung(3)|skin(1) 4 all_hematologic(923;0.215) AAGTGTTTTGCCGTGTGTCTT 0.458000 58 34 0 0 0.004289 0 0 PVRL4 81607 broad.mit.edu 37 1 161047403 161047403 + Silent SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:161047403T>G uc001fxo.2 - 2 869 c.570A>C c.(568-570)acA>acC p.T190T PVRL4_uc010pjy.1_5'Flank|PVRL4_uc010pjz.1_5'Flank NM_030916 NP_112178 Q96NY8 PVRL4_HUMAN Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA. 190 Ig-like C2-type 1. adherens junction organization|cell adhesion|cell junction assembly adherens junction|extracellular region|integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1) 20 all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGCTGGACGTTGTGCCTTTGA 0.637000 31 13 0 0 0.001855 0 0 MYLPF 29895 broad.mit.edu 37 16 30387967 30387967 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30387967G>A uc002dxv.1 + 4 360 c.304G>A c.(304-306)Gga>Aga p.G102R ZNF48_uc021tgi.1_5'Flank|ZNF48_uc021tgj.1_5'Flank NM_013292 NP_037424 Q96A32 MLRS_HUMAN Homo sapiens myosin light chain, phosphorylatable, fast skeletal muscle (MYLPF), mRNA. 102 EF-hand 2. skeletal muscle tissue development muscle myosin complex calcium ion binding|structural constituent of muscle large_intestine(2)|lung(4) 6 Colorectal(24;0.193) TGTGATCACCGGAGCCTTCAA 0.612000 11 5 0 0 0.003080 0 0 CD36 948 broad.mit.edu 37 7 80276161 80276161 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:80276161G>A uc003uhc.3 + 5 789 c.105G>A c.(103-105)caG>caA p.Q35Q CD36_uc011kgv.2_Intron|CD36_uc003uhd.4_Silent_p.Q35Q|CD36_uc003uhe.4_Silent_p.Q35Q|CD36_uc003uhf.4_Silent_p.Q35Q|CD36_uc003uhg.4_Silent_p.Q35Q|CD36_uc003uhh.4_Silent_p.Q35Q|CD36_uc022agu.1_Silent_p.Q35Q|CD36_uc022agv.1_Silent_p.Q35Q NM_001127444 NP_001120916 P16671 CD36_HUMAN Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA. 35 cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation integral to plasma membrane|membrane fraction|platelet alpha granule membrane lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1) 21 TGCTTATCCAGAAGACAATTA 0.418000 46 15 0 0 0.003163 0 0 OR1Q1 158131 broad.mit.edu 37 9 125377779 125377779 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:125377779C>T uc011lyy.2 + 0 763 c.763C>T c.(763-765)Ctc>Ttc p.L255F NM_012364 NP_036496 Q15612 OR1Q1_HUMAN Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA. 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 CTATGGCACCCTCAGTTGGGT 0.557000 42 25 0 0 0.001786 0 0 TICAM1 148022 broad.mit.edu 37 19 4817290 4817290 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:4817290G>A uc002mbi.3 - 1 1351 c.1100C>T c.(1099-1101)cCt>cTt p.P367L TICAM1_uc021unj.1_Missense_Mutation_p.P367L NM_182919 NP_891549 Q8IUC6 TCAM1_HUMAN Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA. 367 Pro-rich. I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|apoptosis|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) AGTAGATGAaggaggaggagg 0.522000 14 16 0 0 0.003163 0 0 MAP3K15 389840 broad.mit.edu 37 X 19380929 19380929 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:19380929C>T uc022btq.1 - 25 3606 c.3606G>A c.(3604-3606)caG>caA p.Q1202Q MAP3K15_uc004czj.2_Silent_p.Q637Q|MAP3K15_uc004czk.2_Silent_p.Q677Q|MAP3K15_uc004czi.2_Silent_p.Q136Q NM_001001671 NP_001001671 Q6ZN16 M3K15_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA. 1202 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) GCAGAAGATTCTGGTACTCTC 0.328000 21 26 0 0 0.005443 0 0 EPB41 2035 broad.mit.edu 37 1 29314203 29314203 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:29314203C>T uc001brm.2 + 1 381 c.254C>T c.(253-255)tCg>tTg p.S85L EPB41_uc001brg.2_5'UTR|EPB41_uc001brh.2_5'UTR|EPB41_uc001brj.2_5'UTR|EPB41_uc001bri.2_Missense_Mutation_p.S85L|EPB41_uc009vtk.2_Missense_Mutation_p.S85L|EPB41_uc001brk.3_Missense_Mutation_p.S85L|EPB41_uc001brl.2_Missense_Mutation_p.S85L|EPB41_uc021okg.1_Missense_Mutation_p.S85L|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_5'UTR NM_001166005 NP_001159477 P11171 41_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA. 85 blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding Golgi apparatus|extrinsic to membrane|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton 1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton p.P84P(1) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1) 14 Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757) CTATTCTCCTCGTTTCTCAAA 0.433000 58 34 0 0 0.003755 0 0 BCL6 604 broad.mit.edu 37 3 187446313 187446313 + Missense_Mutation SNP G A A rs137878288 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:187446313G>A uc003frp.3 - 5 1832 c.1375C>T c.(1375-1377)Cgc>Tgc p.R459C LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R459C|BCL6_uc010hza.2_Missense_Mutation_p.R357C|BCL6_uc003frq.2_Missense_Mutation_p.R459C NM_001130845 NP_001697 P41182 BCL6_HUMAN Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA. 459 negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R459H(1) central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 40 all_cancers(143;9.45e-12)|Ovarian(172;0.0418) OV - Ovarian serous cystadenocarcinoma(80;1.76e-18) GBM - Glioblastoma multiforme(93;0.0141) CTGCTGCTGCGGGGAGAGCCC 0.622000 """T, Mis""" """IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R, POU2AF1, ARHH, EIF4A2, SFRS3""" """NHL, CLL""" 38 14 0 0 0.003163 0 0 MEF2D 4209 broad.mit.edu 37 1 156446904 156446904 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:156446904G>A uc001fpc.3 - 6 1145 c.755C>T c.(754-756)cCa>cTa p.P252L MEF2D_uc001fpb.3_Missense_Mutation_p.P252L|MEF2D_uc001fpd.3_Missense_Mutation_p.P252L|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L NM_005920 NP_005911 Q14814 MEF2D_HUMAN Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA. 252 Poly-Pro. apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus RNA polymerase II regulatory region sequence-specific DNA binding|activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) AGGTGGGGGTGGAGACTTGGC 0.607000 29 27 0 0 0.005443 0 0 CHN2 1124 broad.mit.edu 37 7 29519972 29519972 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:29519972G>A uc003szz.3 + 7 1091 c.654_splice c.e7+1 p.K218_splice CHN2_uc011jzs.2_Splice_Site_p.K293_splice|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Splice_Site_p.K183_splice|CHN2_uc011jzt.2_Splice_Site_p.K231_splice|CHN2_uc010kvd.3_Splice_Site_p.K74_splice|CHN2_uc011jzu.2_Splice_Site_p.K203_splice|CHN2_uc010kvh.3_Splice_Site_p.K82_splice|CHN2_uc010kvi.3_Splice_Site_p.K82_splice|CHN2_uc010kve.3_Splice_Site_p.K82_splice|CHN2_uc003taa.3_Splice_Site_p.K82_splice|CHN2_uc010kvf.3_Splice_Site_p.K82_splice|CHN2_uc010kvg.3_Splice_Site_p.K82_splice|CHN2_uc010kvj.3_Intron|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Intron|CHN2_uc010kvm.3_Intron NM_004067 NP_004058 P52757 CHIO_HUMAN Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA. 218 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 ACAACTTTAAGGTAAGCAAGC 0.453000 32 15 0 0 0.004007 0 0 CSMD2 114784 broad.mit.edu 37 1 34401395 34401395 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:34401395G>A uc001bxm.1 - 3 855 c.678C>T c.(676-678)agC>agT p.S226S CSMD2_uc001bxn.1_Silent_p.S186S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 186 CUB 2. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CCCACGTGGCGCTGTTCTCAG 0.632000 25 11 0 0 0.000673 0 0 CYP7B1 9420 broad.mit.edu 37 8 65527784 65527784 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:65527784G>A uc003xvj.2 - 3 1060 c.856C>T c.(856-858)Cat>Tat p.H286Y NM_004820 NP_004811 O75881 CP7B1_HUMAN Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA. 286 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AAGCCTAAATGATGTGCTGGG 0.423000 30 6 0 0 0.003080 0 0 MTR 4548 broad.mit.edu 37 1 237016305 237016305 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237016305C>T uc001hyi.4 + 17 2293 c.1870C>T c.(1870-1872)Cat>Tat p.H624Y MTR_uc010pxw.2_Missense_Mutation_p.H217Y|MTR_uc010pxx.2_Missense_Mutation_p.H624Y|MTR_uc010pxy.2_Intron NM_000254 NP_000245 Q99707 METH_HUMAN Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA. 624 Pterin-binding. nervous system development|xenobiotic metabolic process cytosol cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 67 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117) OV - Ovarian serous cystadenocarcinoma(106;0.0106) KIRC - Kidney renal clear cell carcinoma(1967;0.248) Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116) TGATGATATCCATAAGGAACT 0.433000 48 12 0 0 0.000978 0 0 FRY 10129 broad.mit.edu 37 13 32776495 32776495 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:32776495C>T uc001utx.3 + 30 4345 c.3849C>T c.(3847-3849)atC>atT p.I1283I FRY_uc010tdw.2_Non-coding_Transcript NM_023037 NP_075463 Q5TBA9 FRY_HUMAN Homo sapiens furry homolog (Drosophila) (FRY), mRNA. 1283 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) CTTTATAGATCCTTGAAGCAA 0.388000 39 14 0 0 0.001855 0 0 SPAG17 200162 broad.mit.edu 37 1 118558675 118558676 + Missense_Mutation DNP TC AT AT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:118558675_118558676TC>AT uc001ehk.2 - 28 4267_4268 c.4199_4200GA>AT c.(4198-4200)gga>gAT p.G1400D NM_206996 NP_996879 Q6Q759 SPG17_HUMAN Homo sapiens sperm associated antigen 17 (SPAG17), mRNA. 1400 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CGATCCGATTTCCTTCAGGTGT 0.475000 36 84 0 0 0.004672 0 0 RBBP6 5930 broad.mit.edu 37 16 24580361 24580361 + Missense_Mutation SNP C T T rs146591085 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:24580361C>T uc002dmh.3 + 16 3390 c.2350C>T c.(2350-2352)Cgt>Tgt p.R784C RBBP6_uc010vcb.1_Missense_Mutation_p.R651C|RBBP6_uc002dmi.3_Missense_Mutation_p.R750C|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Missense_Mutation_p.R617C NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 784 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) TCCTAATAAACGTAATGTACC 0.413000 17 9 0 0 0.000978 0 0 BPTF 2186 broad.mit.edu 37 17 65972017 65972017 + Missense_Mutation SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:65972017G>T uc002jgf.3 + 26 8730 c.8669G>T c.(8668-8670)tGt>tTt p.C2890F BPTF_uc002jge.3_Missense_Mutation_p.C2873F|BPTF_uc021uca.1_Missense_Mutation_p.C690F|BPTF_uc002jgg.3_Missense_Mutation_p.C605F|BPTF_uc002jgh.3_Missense_Mutation_p.C407F NM_182641 NP_872579 Q12830 BPTF_HUMAN Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA. 3016 brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex|cytoplasm sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) TTTTACCAGTGTGCAGAAGTT 0.383000 36 37 4.67007e-22 5.88394e-22 0.001951 1 0 OR5R1 219479 broad.mit.edu 37 11 56185322 56185322 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56185322G>A uc010rji.2 - 0 387 c.387C>T c.(385-387)ccC>ccT p.P129P OR8U8_uc001nit.2_Intron NM_001004744 NP_001004744 Q8NH85 OR5R1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(21;0.00448) AATAATGCAGGGGACTACAGA 0.468000 39 25 0 0 0.003954 0 0 DTX4 23220 broad.mit.edu 37 11 58949292 58949292 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:58949292G>C uc001nns.2 + 1 549 c.292G>C c.(292-294)Gac>Cac p.D98H DTX4_uc001nnr.2_5'UTR NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA. 98 WWE 2. Notch signaling pathway cytoplasm zinc ion binding central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 20 all_epithelial(135;0.125) GTGGGAGAACGACAATGGCTC 0.617000 46 15 0 0 0.002450 0 0 TTC3 7267 broad.mit.edu 37 21 38516888 38516888 + Silent SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:38516888G>C uc002yvz.3 + 20 1941 c.1836G>C c.(1834-1836)gtG>gtC p.V612V TTC3_uc011aee.1_Silent_p.V302V|TTC3_uc002ywa.3_Silent_p.V612V|TTC3_uc002ywb.3_Silent_p.V612V|TTC3_uc010gnf.3_Silent_p.V377V|TTC3_uc002ywc.3_Silent_p.V302V|TTC3_uc011aed.1_Silent_p.V302V|TTC3_uc010gne.1_Silent_p.V612V NM_001001894 NP_003307 P53804 TTC3_HUMAN Homo sapiens tetratricopeptide repeat domain 3 (TTC3), transcript variant 2, mRNA. 612 protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5) 75 Myeloproliferative disorder(46;0.0412) TTCCTGGAGTGTTAACTTGGC 0.343000 43 19 0 0 0.007413 0 0 ATP13A5 344905 broad.mit.edu 37 3 193032821 193032821 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:193032821C>T uc011bsq.2 - 17 2098 c.2098G>A c.(2098-2100)Gaa>Aaa p.E700K NM_198505 NP_940907 Q4VNC0 AT135_HUMAN Homo sapiens ATPase type 13A5 (ATP13A5), mRNA. 700 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding p.E700K(2) NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(143;1.08e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06) GBM - Glioblastoma multiforme(46;0.000307) AGTTTGGTTTCTTTTTTCAAG 0.383000 63 20 0 0 0.001216 0 0 EIF2C2 27161 broad.mit.edu 37 8 141595379 141595379 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:141595379G>A uc003yvn.3 - 1 95 c.54C>T c.(52-54)atC>atT p.I18I EIF2C2_uc010meo.3_Silent_p.I18I|EIF2C2_uc010men.3_Intron NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 18 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) CATATCCTTGGATGGGGGGCG 0.577000 34 51 0 0 0.003610 0 0 INPP5D 3635 broad.mit.edu 37 2 234104085 234104085 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234104085G>A uc010zmo.2 + 22 2703 c.2550G>A c.(2548-2550)aaG>aaA p.K850K INPP5D_uc010zmp.2_Silent_p.K849K NM_001017915 NP_001017915 Q92835 SHIP1_HUMAN Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA. 879 T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration cytosol SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity central_nervous_system(1)|ovary(1) 2 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843) Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185) GTGGGCCAAAGACCCTGAAGA 0.587000 28 13 0 0 0.003163 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42363991 42363991 + Silent SNP G A A rs138680325 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:42363991G>A uc001zox.3 - 14 1649 c.1554C>T c.(1552-1554)ccC>ccT p.P518P NM_178034 NP_828848 Q86XP0 PA24D_HUMAN Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA. 518 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity p.P518P(2) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) AGCAGATCCGGGGCTCCGGGA 0.622000 34 18 0 0 0.004990 0 0 KCNH4 23415 broad.mit.edu 37 17 40315253 40315253 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:40315253G>A uc002hzb.2 - 13 2910 c.2577C>T c.(2575-2577)ccC>ccT p.P859P NM_012285 NP_036417 Q9UQ05 KCNH4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 4 (KCNH4), mRNA. 859 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TACCTGTAGGGGGCGCCTGGG 0.597000 17 25 0 0 0.006320 0 0 UTP20 27340 broad.mit.edu 37 12 101748767 101748767 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:101748767C>T uc001tia.1 + 40 5421 c.5265C>T c.(5263-5265)tcC>tcT p.S1755S NM_014503 NP_055318 O75691 UTP20_HUMAN Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA. 1755 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 CTAAAGAATCCGAGTGTATCA 0.433000 24 10 0 0 0.000673 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307491 140307491 + Silent SNP C T T rs116016831 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140307491C>T uc003lih.2 + 0 1190 c.1014C>T c.(1012-1014)ccC>ccT p.P338P PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.P338P NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 363 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.P338P(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATCATGCCCCCGAACTGGACT 0.522000 23 26 0 0 0.005443 0 0 MAP7D1 55700 broad.mit.edu 37 1 36643568 36643568 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:36643568C>T uc001bzz.3 + 8 1690 c.1474C>T c.(1474-1476)Cca>Tca p.P492S MAP7D1_uc001caa.3_Missense_Mutation_p.P460S|MAP7D1_uc001cab.3_Missense_Mutation_p.P455S|MAP7D1_uc001cac.3_Missense_Mutation_p.P192S|MAP7D1_uc001cad.3_Missense_Mutation_p.P38S NM_018067 NP_060537 Q3KQU3 MA7D1_HUMAN Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA. 492 Pro-rich. cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) CACTCTGCCTCCAAAGCCACC 0.692000 32 6 0 0 0.001168 0 0 SORCS3 22986 broad.mit.edu 37 10 106737200 106737200 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:106737200C>T uc001kyi.1 + 3 1130 c.903C>T c.(901-903)ctC>ctT p.L301L NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 301 integral to membrane neuropeptide receptor activity p.L300M(1) 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) AGAGCCTGCTCTTTCATCCCA 0.458000 34 11 0 0 0.001855 0 0 MBTPS1 8720 broad.mit.edu 37 16 84129405 84129405 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:84129405G>A uc002fhi.3 - 3 929 c.427C>T c.(427-429)Ccc>Tcc p.P143S NM_003791 NP_003782 Q14703 MBTP1_HUMAN Homo sapiens membrane-bound transcription factor peptidase, site 1 (MBTPS1), mRNA. 143 cholesterol metabolic process|proteolysis Golgi membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 GGTACTGTGGGGTCAGCTACA 0.547000 52 17 0 0 0.004990 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073629 73073629 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:73073629G>A uc001otu.3 + 13 4867 c.4846G>A c.(4846-4848)Ggc>Agc p.G1616S NM_014786 NP_055601 Q96PE2 ARHGH_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA. 1616 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 TGCAGGCTCGGGCTTGGAGAT 0.706000 19 7 0 0 0.003080 0 0 C1orf129 80133 broad.mit.edu 37 1 170941014 170941014 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:170941014G>A uc010plz.2 + 7 760 c.606G>A c.(604-606)cgG>cgA p.R202R C1orf129_uc001ghg.3_Silent_p.R202R|C1orf129_uc009wvy.3_Silent_p.R9R NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 202 binding p.A201E(1) breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) ACATTGCACGGTGTCAGAACG 0.453000 94 45 0 0 0.003610 0 0 TNN 63923 broad.mit.edu 37 1 175106034 175106034 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:175106034G>A uc001gkl.1 + 16 3618 c.3505G>A c.(3505-3507)Gaa>Aaa p.E1169K NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 1169 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GACTGCCAATGAATCTGCCTA 0.468000 25 7 0 0 0.003080 0 0 KLB 152831 broad.mit.edu 37 4 39439414 39439414 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:39439414G>A uc003gua.3 + 2 1501 c.1404G>A c.(1402-1404)tgG>tgA p.W468* KLB_uc011byj.2_Nonsense_Mutation_p.W468* NM_175737 NP_783864 Q86Z14 KLOTB_HUMAN Homo sapiens klotho beta (KLB), mRNA. 468 Glycosyl hydrolase-1 1. carbohydrate metabolic process integral to membrane|plasma membrane cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.W468S(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6) 29 GCTTTGAATGGCAGGATGCTT 0.418000 49 27 0 0 0.005443 0 0 DNAH3 55567 broad.mit.edu 37 16 21042461 21042461 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:21042461G>A uc010vbe.2 - 36 5345 c.5345C>T c.(5344-5346)tCa>tTa p.S1782L NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1782 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) ATCAGAGAGTGAAGACGCTTG 0.463000 32 17 0 0 0.006122 0 0 KIAA1109 84162 broad.mit.edu 37 4 123230543 123230543 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:123230543C>T uc003ieh.3 + 56 10221 c.10176C>T c.(10174-10176)atC>atT p.I3392I KIAA1109_uc003iel.1_Silent_p.I1327I NM_015312 NP_056127 Q2LD37 K1109_HUMAN Homo sapiens KIAA1109 (KIAA1109), mRNA. 3392 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 ACTTTTGTATCCGTTTTGCTG 0.383000 56 16 0 0 0.006122 0 0 AMN1 196394 broad.mit.edu 37 12 31862360 31862360 + Splice_Site SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:31862360C>A uc001rkq.4 - 2 205 c.39_splice c.e2-1 p.L13_splice AMN1_uc001rko.4_Splice_Site|AMN1_uc010skc.2_Splice_Site|AMN1_uc009zjs.3_Intron|AMN1_uc009zjt.1_Intron NM_001113402 NP_001106873 Q8IY45 AMN1_HUMAN Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA. 13 breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1) 7 all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162) OV - Ovarian serous cystadenocarcinoma(6;0.0014) CCAAAGGCATCTGAAATACAA 0.353000 7 7 2.0095e-06 2.49934e-06 0.001984 1 0 TLN2 83660 broad.mit.edu 37 15 62942303 62942303 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:62942303C>T uc002alb.4 + 1 157 c.157C>T c.(157-159)Ctt>Ttt p.L53F NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 53 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TGGACTCTTTCTTTCGGATGA 0.493000 50 20 0 0 0.001523 0 0 ADCY1 107 broad.mit.edu 37 7 45743273 45743273 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:45743273C>T uc003tne.4 + 15 2664 c.2646C>T c.(2644-2646)atC>atT p.I882I NM_021116 NP_066939 Q08828 ADCY1_HUMAN Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA. 882 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) ACTTCTACATCGAGCTGGACG 0.562000 39 18 0 0 0.007413 0 0 GJB1 2705 broad.mit.edu 37 X 70443915 70443915 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70443915G>A uc022byr.1 + 0 358 c.358G>A c.(358-360)Gtg>Atg p.V120M BCYRN1_uc011mpt.1_Intron|GJB1_uc004dzf.3_Missense_Mutation_p.V120M|GJB1_uc004dzg.3_Missense_Mutation_p.V120M NM_001097642 NP_001091111 P08034 CXB1_HUMAN Homo sapiens gap junction protein, beta 1, 32kDa (GJB1), transcript variant 1, mRNA. 120 Missing (in CMTX1).|V -> E (in CMTX1). cell-cell signaling|cellular membrane organization|gap junction assembly|nervous system development connexon complex|endoplasmic reticulum membrane|integral to membrane gap junction channel activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(1) 10 Renal(35;0.156) CCTGGAGGAGGTGAAGAGGCA 0.562000 1 6 0 0 0.001984 0 0 ZIC4 84107 broad.mit.edu 37 3 147120535 147120535 + Missense_Mutation SNP C T T rs148365070 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:147120535C>T uc011bno.2 - 1 386 c.200G>A c.(199-201)cGa>cAa p.R67Q ZIC4_uc021xff.1_Missense_Mutation_p.R55Q|ZIC4_uc003ewd.2_Missense_Mutation_p.R17Q|ZIC4_uc021xfg.1_Missense_Mutation_p.R17Q NM_001168378 NP_115529 Q8N9L1 ZIC4_HUMAN Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA. 17 nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4) 57 AAGAGTGTTTCGGTAAAGCCG 0.353000 70 23 0 0 0.005443 0 0 MMAA 166785 broad.mit.edu 37 4 146560724 146560724 + Nonsense_Mutation SNP C T T rs104893851 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:146560724C>T uc003ikh.4 + 1 518 c.433C>T c.(433-435)Cga>Tga p.R145* MMAA_uc010iow.3_Non-coding_Transcript NM_172250 NP_758454 Q8IVH4 MMAA_HUMAN Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA. 145 R -> Q (in MMAA). mitochondrion GTP binding|nucleoside-triphosphatase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1) 17 all_hematologic(180;0.151) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ACTAGCATTTCGAGTAGGTCA 0.323000 14 5 0 0 0.001984 0 0 HFM1 164045 broad.mit.edu 37 1 91845776 91845776 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:91845776C>T uc001doa.4 - 7 990 c.891G>A c.(889-891)agG>agA p.R297R HFM1_uc010osu.2_5'UTR|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Silent_p.R297R NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA. 297 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) TCACAAAATTCCTATCTGTGT 0.299000 58 24 0 0 0.003954 0 0 D28359 0 broad.mit.edu 37 13 52035470 52035470 + RNA SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:52035470T>C uc001vfo.1 + 0 c.2375T>C Homo sapiens cDNA FLJ34612 fis, clone KIDNE2014170, highly similar to 40S RIBOSOMAL PROTEIN S4, X ISOFORM. GGGTGACATGTTAGATCTTTG 0.423000 9 7 0 0 0.001984 0 0 IGSF1 3547 broad.mit.edu 37 X 130416704 130416704 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:130416704G>A uc004ewe.4 - 6 1243 c.960C>T c.(958-960)ttC>ttT p.F320F IGSF1_uc004ewd.3_Silent_p.F320F|IGSF1_uc022cdv.1_Silent_p.F311F|IGSF1_uc004ewf.2_Silent_p.F300F NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 320 regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 AGGTCTTGGGGAAAGTGTCTA 0.512000 6 15 0 0 0.006122 0 0 PDZRN4 29951 broad.mit.edu 37 12 41966312 41966312 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:41966312C>T uc010skn.2 + 9 1739 c.1731C>T c.(1729-1731)ccC>ccT p.P577P PDZRN4_uc001rmq.4_Silent_p.P319P|PDZRN4_uc009zjz.3_Silent_p.P317P|PDZRN4_uc001rmr.3_Silent_p.P204P NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 577 ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) CCGAGGACCCCAATAGCACAT 0.498000 9 8 0 0 0.004482 0 0 SPAM1 6677 broad.mit.edu 37 7 123594421 123594421 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:123594421A>T uc003vle.3 + 2 1236 c.797A>T c.(796-798)aAc>aTc p.N266I SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.N266I|SPAM1_uc022aks.1_Missense_Mutation_p.N266I|SPAM1_uc003vlf.4_Missense_Mutation_p.N266I|SPAM1_uc010lku.3_Missense_Mutation_p.N266I NM_003117 NP_003108 P38567 HYALP_HUMAN Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA. 266 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) ATTTATTTGAACACTCAGCAG 0.423000 50 11 0 0 0.001368 0 0 IGF2BP2 10644 broad.mit.edu 37 3 185407217 185407217 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:185407217G>A uc003fpo.3 - 5 682 c.603C>T c.(601-603)ccC>ccT p.P201P IGF2BP2_uc010hyi.3_Silent_p.P144P|IGF2BP2_uc010hyj.3_Silent_p.P138P|IGF2BP2_uc010hyk.3_Silent_p.P65P|IGF2BP2_uc010hyl.3_Silent_p.P138P|IGF2BP2_uc003fpp.3_Silent_p.P201P|IGF2BP2_uc003fpq.3_Silent_p.P206P NM_006548 NP_006539 Q9Y6M1 IF2B2_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 2 (IGF2BP2), transcript variant 1, mRNA. 201 KH 1. anatomical structure morphogenesis|negative regulation of translation cytoskeletal part|cytosol|nucleus mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3) 20 all_cancers(143;5.84e-11)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) CAAACTGGGTGGGGACCAGGA 0.607000 167 68 0 0 0.003610 0 0 OR5M9 390162 broad.mit.edu 37 11 56230376 56230376 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56230376C>T uc010rjj.2 - 0 502 c.502G>A c.(502-504)Gga>Aga p.G168R OR8U8_uc001nit.2_Intron NM_001004743 NP_001004743 Q8NGP3 OR5M9_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA. 168 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) TCAAAGTTTCCACAGAAGTAT 0.428000 22 10 0 0 0.000673 0 0 KRT16 3868 broad.mit.edu 37 17 39766713 39766713 + Nonsense_Mutation SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:39766713C>A uc002hxg.4 - 5 1289 c.1150G>T c.(1150-1152)Gag>Tag p.E384* JUP_uc010wfs.2_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN Homo sapiens keratin 16 (KRT16), mRNA. 384 Coil 2.|Rod. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Breast(137;0.000307) GCCAGCTGCTCCTCCACACTG 0.582000 21 41 2.46787e-29 3.11159e-29 0.003610 1 0 DAGLA 747 broad.mit.edu 37 11 61488326 61488326 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:61488326C>T uc001nsa.3 + 2 387 c.271C>T c.(271-273)Cgt>Tgt p.R91C NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA. 91 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity p.P90P(1) breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) CACGGAGCCCCGTGACTCCAT 0.647000 24 18 0 0 0.001882 0 0 SZT2 23334 broad.mit.edu 37 1 43903269 43903269 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:43903269C>T uc001cjk.2 + 43 6207 c.3597C>T c.(3595-3597)ctC>ctT p.L1199L NM_015284 NP_056099 Q5T011 SZT2_HUMAN Homo sapiens seizure threshold 2 homolog (mouse) (SZT2), mRNA. 2098 peroxisome p.R1198R(1) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 TTCCCAGGCTCCTAGAGACAT 0.572000 13 5 0 0 0.000602 0 0 CHN1 1123 broad.mit.edu 37 2 175779842 175779842 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:175779842C>T uc002uji.3 - 4 545 c.204G>A c.(202-204)ggG>ggA p.G68G CHN1_uc010zeq.2_Silent_p.G68G|CHN1_uc002ujj.3_5'UTR NM_001822 NP_001813 P15882 CHIN_HUMAN Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA. 68 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TGAGGTAGCTCCCCTCAGCCA 0.473000 T TAF15 extraskeletal myxoid chondrosarcoma 14 8 0 0 0.000978 0 0 RICTOR 253260 broad.mit.edu 37 5 38950766 38950766 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:38950766G>A uc003jlo.2 - 30 3206 c.3184C>T c.(3184-3186)Ctt>Ttt p.L1062F RICTOR_uc003jlp.2_Missense_Mutation_p.L1062F|RICTOR_uc010ivf.2_Missense_Mutation_p.L777F NM_152756 NP_689969 Q6R327 RICTR_HUMAN Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA. 1062 T cell costimulation|actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade TORC2 complex|cytosol protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) TTGATATCAAGGAAAAATGTG 0.348000 28 30 0 0 0.002096 0 0 MYOM1 8736 broad.mit.edu 37 18 3102527 3102527 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:3102527C>T uc002klp.3 - 22 3854 c.3520G>A c.(3520-3522)Gat>Aat p.D1174N MYOM1_uc002klq.3_Missense_Mutation_p.D1078N NM_003803 NP_003794 P52179 MYOM1_HUMAN Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA. 1174 Ig-like C2-type 3. striated muscle myosin thick filament structural constituent of muscle p.D1174Y(2) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GATACATAATCTTTGGACCAG 0.418000 94 51 0 0 0.003610 0 0 PLXNA4 91584 broad.mit.edu 37 7 131883317 131883317 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:131883317C>T uc003vra.4 - 12 2894 c.2665G>A c.(2665-2667)Gac>Aac p.D889N NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA. 889 IPT/TIG 1. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GAGGCGATGTCGCGAAATTCC 0.562000 35 27 0 0 0.001512 0 0 NEBL 10529 broad.mit.edu 37 10 21074700 21074700 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:21074700C>T uc001iqi.3 - 27 3418 c.3021G>A c.(3019-3021)gcG>gcA p.A1007A NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Silent_p.A263A|NEBL_uc021pnu.1_3'UTR NM_006393 NP_006384 O76041 NEBL_HUMAN Homo sapiens nebulette (NEBL), transcript variant 1, mRNA. 1007 SH3. regulation of actin filament length actin binding|structural constituent of muscle p.A1007A(2)|p.A263A(1) NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 CAATGTAATTCGCTGGGAGCA 0.413000 11 15 0 0 0.004990 0 0 SENP6 26054 broad.mit.edu 37 6 76350409 76350409 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:76350409C>T uc003pid.4 + 5 1087 c.468C>T c.(466-468)gaC>gaT p.D156D SENP6_uc003pie.4_Intron|SENP6_uc003pic.2_Intron|SENP6_uc003pif.1_Silent_p.D47D NM_015571 NP_056386 Q9GZR1 SENP6_HUMAN Homo sapiens SUMO1/sentrin specific peptidase 6 (SENP6), transcript variant 1, mRNA. 156 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) GCAGTCTGGACCGAAAAGAAA 0.279000 9 6 0 0 0.004482 0 0 PHC3 80012 broad.mit.edu 37 3 169846497 169846497 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:169846497G>A uc003fgl.2 - 7 1797 c.1763C>T c.(1762-1764)cCa>cTa p.P588L PHC3_uc010hws.1_Missense_Mutation_p.P576L|PHC3_uc011bpq.1_Missense_Mutation_p.P535L|PHC3_uc011bpr.1_Missense_Mutation_p.P502L NM_024947 NP_079223 Q8NDX5 PHC3_HUMAN Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA. 576 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) AGGTGCTGGTGGTTGCACTTG 0.453000 20 13 0 0 0.001368 0 0 DOK5 55816 broad.mit.edu 37 20 53205106 53205106 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:53205106G>A uc002xwy.3 + 2 479 c.259G>A c.(259-261)Gat>Aat p.D87N NM_018431 NP_060901 Q9P104 DOK5_HUMAN Homo sapiens docking protein 5 (DOK5), mRNA. 87 PH. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TTTCAATGACGATACCTCCAA 0.418000 60 28 0 0 0.002096 0 0 RAP1B 5908 broad.mit.edu 37 12 69047971 69047972 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:69047971_69047972CC>TT uc001sub.3 + 4 503_504 c.263_264CC>TT c.(262-264)tcc>tTT p.S88F RAP1B_uc010ste.2_Missense_Mutation_p.S22F|RAP1B_uc001suc.3_Missense_Mutation_p.S88F|RAP1B_uc010stf.2_Missense_Mutation_p.S69F|RAP1B_uc010stg.2_Missense_Mutation_p.S46F|RAP1B_uc010sth.2_Missense_Mutation_p.S46F|RAP1B_uc010sti.2_Intron NM_015646 NP_056461 P61224 RAP1B_HUMAN Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA. 88 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2) 12 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) ACAGCACAGTCCACATTTAACG 0.337000 124 41 0 0 0.004672 0 0 CPAMD8 27151 broad.mit.edu 37 19 17025574 17025574 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:17025574A>G uc002nfb.3 - 27 3852 c.3820T>C c.(3820-3822)Ttc>Ctc p.F1274L NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA. 1227 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GGGTCCACGAAGATAAAGCTG 0.617000 33 6 0 0 0.003080 0 0 APOB 338 broad.mit.edu 37 2 21236096 21236096 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:21236096G>A uc002red.3 - 24 4280 c.4152C>T c.(4150-4152)agC>agT p.S1384S NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1384 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.S1384N(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GAGCCCGAAGGCTGAAATGGT 0.537000 240 106 0 0 0.003610 0 0 RPAP1 26015 broad.mit.edu 37 15 41817327 41817327 + Missense_Mutation SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:41817327C>G uc001zod.3 - 14 2061 c.1937G>C c.(1936-1938)cGg>cCg p.R646P NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA. 646 nucleus DNA binding|DNA-directed RNA polymerase activity NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 45 all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117) CAGGCGGCTCCGGAGATCAAA 0.592000 12 7 0 0 0.004482 0 0 GMPPB 29925 broad.mit.edu 37 3 49759664 49759664 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:49759664C>T uc003cxl.1 - 7 993 c.768_splice c.e7+1 p.V256_splice AMIGO3_uc003cxj.3_5'Flank|GMPPB_uc003cxk.1_Splice_Site_p.V256_splice NM_013334 NP_037466 Q9Y5P6 GMPPB_HUMAN Homo sapiens GDP-mannose pyrophosphorylase B (GMPPB), transcript variant 1, mRNA. 256 GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AGGGCCTCACCACCAGCACGT 0.597000 36 17 0 0 0.006122 0 0 USH2A 7399 broad.mit.edu 37 1 216040418 216040418 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:216040418C>T uc001hku.1 - 43 9163 c.8776G>A c.(8776-8778)Gag>Aag p.E2926K NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 2926 Fibronectin type-III 16. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCTCCTCTCTCTGGAAGACCA 0.463000 HNSCC(13;0.011) 32 24 0 0 0.003330 0 0 HHLA2 11148 broad.mit.edu 37 3 108072514 108072514 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:108072514G>A uc003dwz.3 + 3 719 c.305G>A c.(304-306)gGg>gAg p.G102E HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.G102E|HHLA2_uc003dwy.4_Missense_Mutation_p.G102E NM_007072 NP_009003 Q9UM44 HHLA2_HUMAN Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA. 102 Ig-like V-type 1. integral to membrane endometrium(2)|large_intestine(1)|lung(14)|ovary(1) 18 ATTCAAAATGGGAATGCGTCG 0.398000 23 12 0 0 0.001368 0 0 CCDC9 26093 broad.mit.edu 37 19 47773841 47773841 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47773841C>T uc010xym.2 + 9 1188 c.981C>T c.(979-981)ccC>ccT p.P327P NM_015603 NP_056418 Q9Y3X0 CCDC9_HUMAN Homo sapiens coiled-coil domain containing 9 (CCDC9), mRNA. 327 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 12 all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114) OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183) CCCCGAAGCCCCCTACTTTTG 0.647000 41 14 0 0 0.004007 0 0 ODZ3 55714 broad.mit.edu 37 4 183601743 183601743 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:183601743C>T uc003ivd.1 + 8 1762 c.1687C>T c.(1687-1689)Cgc>Tgc p.R563C ODZ3_uc003ive.1_5'UTR NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 563 EGF-like 2. signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) CTCCAAGGGCCGCTGCCTGTG 0.557000 42 17 0 0 0.001523 0 0 NBEA 26960 broad.mit.edu 37 13 36242548 36242548 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:36242548G>A uc021rid.1 + 56 9176 c.8642G>A c.(8641-8643)gGg>gAg p.G2881E NBEA_uc021ric.1_Missense_Mutation_p.G2878E|NBEA_uc010abi.3_Missense_Mutation_p.G1539E|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G674E|NBEA_uc001uvd.3_Missense_Mutation_p.G459E NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA. 2881 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) GTCACCGGAGGGGACAATGGG 0.443000 13 9 0 0 0.006214 0 0 TEX14 56155 broad.mit.edu 37 17 56693650 56693650 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:56693650G>C uc010dcz.2 - 6 789 c.671C>G c.(670-672)gCg>gGg p.A224G TEX14_uc002iwr.2_Missense_Mutation_p.A218G|TEX14_uc002iws.2_Missense_Mutation_p.A218G|TEX14_uc010dda.2_5'UTR NM_001201457 NP_001188386 Q8IWB6 TEX14_HUMAN Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA. 224 cytoplasm ATP binding|protein kinase activity p.A218V(1)|p.A224V(1) breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 81 Medulloblastoma(34;0.127)|all_neural(34;0.237) CATCTGTGTCGCCCCAGTAAG 0.468000 69 17 0 0 0.007413 0 0 DGKK 139189 broad.mit.edu 37 X 50127723 50127723 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:50127723C>T uc010njr.2 - 15 2491 c.2447G>A c.(2446-2448)cGa>cAa p.R816Q NM_001013742 NP_001013764 Q5KSL6 DGKK_HUMAN Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA. 816 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding p.R612L(1) central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) CTTACGGCGTCGTGGGCTTGT 0.398000 14 44 0 0 0.003214 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885999 88885999 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:88885999G>A uc003ydz.3 - 0 298 c.201C>T c.(199-201)tcC>tcT p.S67S NM_152418 NP_689631 Q8NA75 DC4L2_HUMAN Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA. 67 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 TTGCCAAAGAGGAGGGATCCC 0.517000 38 14 0 0 0.004007 0 0 MTMR11 10903 broad.mit.edu 37 1 149905813 149905813 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:149905813G>A uc001etl.4 - 7 957 c.706C>T c.(706-708)Cct>Tct p.P236S MTMR11_uc001etm.2_Missense_Mutation_p.P164S|MTMR11_uc010pbm.1_Missense_Mutation_p.P208S|MTMR11_uc010pbn.1_Missense_Mutation_p.P78S NM_001145862 NP_001139334 A4FU01 MTMRB_HUMAN Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA. 236 Myotubularin phosphatase. phosphatase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4) 34 Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) ATTCGGTTAGGGACCCAGAAG 0.478000 59 32 0 0 0.003755 0 0 CACNA1E 777 broad.mit.edu 37 1 181767742 181767742 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:181767742C>T uc009wxt.3 + 47 6909 c.6714C>T c.(6712-6714)gaC>gaT p.D2238D CACNA1E_uc001gow.3_Silent_p.D2195D|CACNA1E_uc009wxs.3_Silent_p.D2176D NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 2238 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity 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 TGCACGAAGACTCCCACGCCT 0.632000 8 4 0 0 0.000248 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112998569 112998569 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:112998569C>T uc001ebx.3 + 5 683 c.455C>T c.(454-456)tCc>tTc p.S152F CTTNBP2NL_uc001ebz.3_5'Flank NM_018704 NP_061174 Q9P2B4 CT2NL_HUMAN Homo sapiens CTTNBP2 N-terminal like (CTTNBP2NL), mRNA. 152 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TTTGAAAAATCCCAAGTGAAA 0.418000 20 8 0 0 0.003080 0 0 PCDH8 5100 broad.mit.edu 37 13 53422533 53422533 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:53422533G>A uc001vhi.3 - 0 243 c.39C>T c.(37-39)ttC>ttT p.F13F PCDH8_uc001vhj.3_Silent_p.F13F NM_002590 NP_002581 O95206 PCDH8_HUMAN Homo sapiens protocadherin 8 (PCDH8), transcript variant 1, mRNA. 13 cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1) 36 Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;2.19e-08) GCTGCAAGGGGAAAAGGCAGG 0.607000 25 15 0 0 0.002450 0 0 RPH3A 22895 broad.mit.edu 37 12 113314570 113314570 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:113314570C>T uc010syl.2 + 12 1432 c.1070C>T c.(1069-1071)tCc>tTc p.S357F RPH3A_uc001ttz.3_Missense_Mutation_p.S357F|RPH3A_uc001tty.3_Missense_Mutation_p.S353F|RPH3A_uc009zwe.1_Missense_Mutation_p.S353F|RPH3A_uc010sym.2_Missense_Mutation_p.S308F|RPH3A_uc001tua.3_Missense_Mutation_p.S117F NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 357 Pro-rich. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GGACCCTATTCCCAAGCATCT 0.647000 25 9 0 0 0.004482 0 0 ZNF407 55628 broad.mit.edu 37 18 72346877 72346877 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:72346877C>T uc002llw.2 + 0 3955 c.3902C>T c.(3901-3903)cCc>cTc p.P1301L ZNF407_uc010xfc.2_Missense_Mutation_p.P1301L|ZNF407_uc010dqu.2_Missense_Mutation_p.P1301L|ZNF407_uc002llu.2_Missense_Mutation_p.P1300L NM_017757 NP_060227 Q9C0G0 ZN407_HUMAN Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA. 1301 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) CAAGAAGATCCCGTTCTGGGG 0.448000 9 3 0 0 0.004672 0 0 ROS1 6098 broad.mit.edu 37 6 117737455 117737455 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:117737455T>C uc003pxp.1 - 2 393 c.194A>G c.(193-195)aAc>aGc p.N65S ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 65 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) ATCTACAGAGTTCCAAAAGTG 0.338000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 10 10 0 0 0.002450 0 0 MAST1 22983 broad.mit.edu 37 19 12958462 12958462 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:12958462C>T uc002mvm.3 + 5 653 c.525C>T c.(523-525)atC>atT p.I175I MAST1_uc021upp.1_5'UTR NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA. 175 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 ACAACGAGATCGTGATGATGA 0.652000 OREG0025277 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 19 0 0 0.002299 0 0 SPARCL1 8404 broad.mit.edu 37 4 88411474 88411474 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:88411474C>T uc010ikm.3 - 7 2054 c.1482G>A c.(1480-1482)ggG>ggA p.G494G SPARCL1_uc011cdc.2_Silent_p.G369G|SPARCL1_uc003hqs.4_Silent_p.G494G|SPARCL1_uc011cdd.2_Silent_p.G369G NM_001128310 NP_004675 Q14515 SPRL1_HUMAN Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA. 494 Kazal-like. signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) CCTTTTTGGTCCCCTCCAGTC 0.458000 173 85 0 0 0.003610 0 0 SLC22A6 9356 broad.mit.edu 37 11 62752030 62752030 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62752030G>A uc001nwk.3 - 0 466 c.133C>T c.(133-135)Cct>Tct p.P45S SLC22A6_uc001nwl.3_Missense_Mutation_p.P45S|SLC22A6_uc001nwj.3_Missense_Mutation_p.P45S|SLC22A6_uc001nwm.3_Missense_Mutation_p.P45S NM_004790 NP_004781 Q4U2R8 S22A6_HUMAN Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA. 45 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 TGGTGGGTAGGGATGGCAGCA 0.667000 14 3 0 0 0.004672 0 0 EDNRA 1909 broad.mit.edu 37 4 148453693 148453693 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:148453693G>A uc003iky.3 + 3 1114 c.584G>A c.(583-585)gGa>gAa p.G195E EDNRA_uc011cid.2_5'UTR|EDNRA_uc010ipg.2_Intron|EDNRA_uc010ipe.1_Silent_p.G152G|EDNRA_uc010ipf.1_Intron NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 195 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity p.Q194*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) CGTGTTCAGGGAATTGGGATT 0.418000 65 31 0 0 0.002836 0 0 FNDC3B 64778 broad.mit.edu 37 3 172048392 172048393 + Missense_Mutation DNP CC AT AT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:172048392_172048393CC>AT uc003fhy.3 + 12 1613_1614 c.1441_1442CC>AT c.(1441-1443)cca>ATa p.P481I FNDC3B_uc003fhz.4_Missense_Mutation_p.P481I|FNDC3B_uc003fia.3_Missense_Mutation_p.P412I NM_022763 NP_073600 Q53EP0 FND3B_HUMAN Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA. 481 Fibronectin type-III 3. P -> L (in Ref. 2; AAQ88513). endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) GCCTTCTGCACCAAGGCTGGTT 0.495000 33 11 0 0 0.004672 0 0 SEMA3E 9723 broad.mit.edu 37 7 83119493 83119493 + Silent SNP G A A rs146189665 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:83119493G>A uc003uhy.2 - 1 834 c.213C>T c.(211-213)ttC>ttT p.F71F SEMA3E_uc022agy.1_Silent_p.F11F NM_012431 NP_001171600 O15041 SEM3E_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA. 71 Sema. axon guidance extracellular space|membrane receptor activity breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 51 Medulloblastoma(109;0.109) TGCCTCCCACGAAGAGCCTCT 0.413000 24 13 0 0 0.001855 0 0 SLC9A5 6553 broad.mit.edu 37 16 67298344 67298344 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67298344G>A uc002esm.3 + 12 1995 c.1932G>A c.(1930-1932)cgG>cgA p.R644R SLC9A5_uc010cee.3_Silent_p.R349R|SLC9A5_uc010vji.2_Silent_p.R148R NM_004594 NP_004585 Q14940 SL9A5_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 5 (SLC9A5), mRNA. 644 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity p.R643Q(1) breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) TGAAGCGGCGGCTGGAGTCCT 0.577000 17 9 0 0 0.004482 0 0 PLCG1 5335 broad.mit.edu 37 20 39791897 39791897 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:39791897C>T uc002xjp.1 + 7 892 c.771C>T c.(769-771)ttC>ttT p.F257F PLCG1_uc002xjo.1_Silent_p.F257F|PLCG1_uc010zwe.1_5'Flank|PLCG1_uc010ggf.3_5'Flank NM_182811 NP_877963 P19174 PLCG1_HUMAN Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA. 257 T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) TCCAGCAGTTCCTTCTTGACT 0.597000 41 33 0 0 0.004878 0 0 ZNF676 163223 broad.mit.edu 37 19 22362994 22362994 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:22362994C>T uc002nqs.1 - 2 1843 c.1525G>A c.(1525-1527)Gaa>Aaa p.E509K NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 509 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) TTGCCACATTCTTCACATTTG 0.388000 13 11 0 0 0.000673 0 0 RPS4Y2 140032 broad.mit.edu 37 Y 22923205 22923205 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrY:22923205C>T uc011nbb.2 + 3 394 c.298C>T c.(298-300)Cgc>Tgc p.R100C NM_001039567 NP_001034656 Q8TD47 RS4Y2_HUMAN Homo sapiens ribosomal protein S4, Y-linked 2 (RPS4Y2), mRNA. 100 S4 RNA-binding. translation ribosome rRNA binding|structural constituent of ribosome lung(2) 2 TGAGCATTTCCGCCTGGTCTA 0.423000 10 12 0 0 0.003163 0 0 CD163L1 283316 broad.mit.edu 37 12 7556243 7556243 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:7556243C>T uc010sge.2 - 5 1352 c.1326G>A c.(1324-1326)tgG>tgA p.W442* CD163L1_uc001qsy.3_Nonsense_Mutation_p.W432* NM_174941 NP_777601 Q9NR16 C163B_HUMAN Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA. 432 SRCR 4. extracellular region|integral to membrane|plasma membrane scavenger receptor activity breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4) 96 TGCTGTTTATCCAAATGTCTC 0.463000 34 15 0 0 0.003163 0 0 VCAM1 7412 broad.mit.edu 37 1 101194910 101194910 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:101194910G>A uc001dti.3 + 4 1397 c.1176G>A c.(1174-1176)ctG>ctA p.L392L VCAM1_uc010ouj.2_Silent_p.L330L|VCAM1_uc001dtj.3_Intron NM_001078 NP_001069 P19320 VCAM1_HUMAN Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA. 392 Ig-like C2-type 4. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) ATAAGAAACTGGAAAAGGGAA 0.423000 59 25 0 0 0.007291 0 0 PAPPA2 60676 broad.mit.edu 37 1 176526076 176526076 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:176526076G>A uc001gkz.3 + 1 1782 c.618G>A c.(616-618)gcG>gcA p.A206A PAPPA2_uc001gky.1_Silent_p.A206A|PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 206 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding p.R205P(2)|p.R205W(1) 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 AGAGGCGGGCGGAAGATGGGC 0.567000 60 31 0 0 0.002445 0 0 CFH 3075 broad.mit.edu 37 1 196716296 196716296 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:196716296G>A uc001gtj.4 + 21 3789 c.3549G>A c.(3547-3549)tgG>tgA p.W1183* CFH_uc021pgt.1_Intron NM_000186 NP_000177 P08603 CFAH_HUMAN Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 1183 Sushi 20. W -> C (in AHUS1).|W -> L (in AHUS1).|W -> R (in AHUS1). complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CATTAAGGTGGACAGCCAAAC 0.348000 39 30 0 0 0.002836 0 0 CLCN1 1180 broad.mit.edu 37 7 143029876 143029876 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143029876G>A uc003wcr.1 + 11 1398 c.1311G>A c.(1309-1311)gcG>gcA p.A437A CLCN1_uc011ktc.1_Intron NM_000083 NP_000074 P35523 CLCN1_HUMAN Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA. 437 A -> T (in dbSNP:rs41276054). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2) 58 Melanoma(164;0.205) TGAAACACGCGGGTGATCCTG 0.527000 65 49 0 0 0.003610 0 0 MICALL1 85377 broad.mit.edu 37 22 38313756 38313756 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:38313756C>T uc003aui.3 + 3 655 c.380C>T c.(379-381)cCg>cTg p.P127L NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 127 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) CCCTGTTCCCCGCCGTCTGTA 0.617000 39 10 0 0 0.000978 0 0 KDM2A 22992 broad.mit.edu 37 11 67012770 67012770 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:67012770C>T uc001ojw.3 + 13 2538 c.1674C>T c.(1672-1674)tcC>tcT p.S558S KDM2A_uc001ojx.3_Non-coding_Transcript|KDM2A_uc001ojy.3_Silent_p.S252S|KDM2A_uc010rpn.2_Silent_p.S119S|KDM2A_uc001ojz.1_Silent_p.S16S NM_012308 NP_036440 Q9Y2K7 KDM2A_HUMAN Homo sapiens lysine (K)-specific demethylase 2A (KDM2A), transcript variant 1, mRNA. 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 CTGCTGCCTCCCCGATTGTGT 0.557000 45 31 0 0 0.001786 0 0 CACNA1S 779 broad.mit.edu 37 1 201031215 201031215 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:201031215G>A uc001gvv.3 - 23 3137 c.2910C>T c.(2908-2910)ggC>ggT p.G970G NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 970 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGTAGTAGTAGCCCCTGTGGC 0.617000 6 3 0 0 0.004672 0 0 KLHL3 26249 broad.mit.edu 37 5 137028034 137028034 + Missense_Mutation SNP G A A rs139384947 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:137028034G>A uc010jek.3 - 4 910 c.466C>T c.(466-468)Cgt>Tgt p.R156C KLHL3_uc003lbr.4_Missense_Mutation_p.R74C|KLHL3_uc011cyd.2_Non-coding_Transcript|MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R116C|KLHL3_uc010jen.1_Non-coding_Transcript|KLHL3_uc003lbs.1_Missense_Mutation_p.R24C NM_017415 NP_059111 Q9UH77 KLHL3_HUMAN Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA. 156 cytoplasm|cytoskeleton actin binding|structural molecule activity breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1) 21 all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GBM - Glioblastoma multiforme(465;0.0223) GCAAATGCACGGATGCCCAGG 0.587000 5 9 0 0 0.004482 0 0 CALB1 793 broad.mit.edu 37 8 91072457 91072457 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:91072457C>T uc003yel.1 - 10 912 c.730G>A c.(730-732)Gga>Aga p.G244R CALB1_uc011lge.1_Missense_Mutation_p.G187R NM_004929 NP_004920 P05937 CALB1_HUMAN Homo sapiens calbindin 1, 28kDa (CALB1), mRNA. 244 nucleus calcium ion binding|vitamin D binding breast(1)|kidney(1)|lung(8)|pancreas(1) 11 BRCA - Breast invasive adenocarcinoma(11;0.00953) AGCTTCCCTCCATCCGACAAA 0.393000 39 14 0 0 0.003163 0 0 PAGE2B 389860 broad.mit.edu 37 X 55103945 55103945 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:55103945G>A uc004due.3 + 3 359 c.307G>A c.(307-309)Gtg>Atg p.V103M PAGE2B_uc022bxk.1_Missense_Mutation_p.V103M NM_001015038 NP_001015038 Q5JRK9 GGEE3_HUMAN Homo sapiens P antigen family, member 2B (PAGE2B), mRNA. 103 lung(3) 3 TCTCACTAAAGTGCTGGAAGC 0.393000 17 35 0 0 0.007835 0 0 TDO2 6999 broad.mit.edu 37 4 156839358 156839358 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:156839358C>T uc003ipf.1 + 10 1098 c.1034C>T c.(1033-1035)tCc>tTc p.S345F NM_005651 NP_005642 P48775 T23O_HUMAN Homo sapiens tryptophan 2,3-dioxygenase (TDO2), mRNA. 345 tryptophan catabolic process to kynurenine cytosol tryptophan 2,3-dioxygenase activity breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 18 all_hematologic(180;0.24) Renal(120;0.0854) KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141) L-Tryptophan(DB00150) ACCGGTGGTTCCTCAGGCTAT 0.468000 25 10 0 0 0.001855 0 0 ZNF490 57474 broad.mit.edu 37 19 12691411 12691411 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:12691411T>C uc002mtz.2 - 4 1607 c.1478A>G c.(1477-1479)aAa>aGa p.K493R NM_020714 NP_065765 Q9ULM2 ZN490_HUMAN Homo sapiens zinc finger protein 490 (ZNF490), mRNA. 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1) 18 ATGAATTCTTTTGTGTACTTT 0.423000 49 23 0 0 0.001882 0 0 TMEM202 338949 broad.mit.edu 37 15 72699092 72699092 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:72699092G>A uc002auq.3 + 3 487 c.487_splice c.e3+1 p.A163_splice TMEM202_uc002aur.3_Splice_Site NM_001080462 NP_001073931 A6NGA9 TM202_HUMAN Homo sapiens transmembrane protein 202 (TMEM202), mRNA. 163 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 CTTCATCTCAGGTACAGACCT 0.433000 110 45 0 0 0.003610 0 0 DNAH5 1767 broad.mit.edu 37 5 13807809 13807809 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:13807809C>T uc003jfd.2 - 46 7820 c.7778G>A c.(7777-7779)gGa>gAa p.G2593E NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 2593 AAA 3 (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) TTTGGCTGTTCCTTGTTCACC 0.348000 Kartagener syndrome 5 5 0 0 0.003080 0 0 OPRK1 4986 broad.mit.edu 37 8 54142013 54142013 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:54142013G>A uc003xrh.1 - 2 1362 c.987C>T c.(985-987)ctC>ctT p.L329L OPRK1_uc022aup.1_Silent_p.L209L|OPRK1_uc003xri.1_Silent_p.L329L|OPRK1_uc010lyc.1_Silent_p.L240L NM_000912 NP_000903 P41145 OPRK_HUMAN Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA. 329 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) GAAAGGCGTAGAGAATGGGAT 0.517000 33 8 0 0 0.003080 0 0 SELE 6401 broad.mit.edu 37 1 169695926 169695926 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:169695926G>A uc001ggm.4 - 10 1824 c.1667C>T c.(1666-1668)cCc>cTc p.P556L C1orf112_uc001ggj.3_Intron NM_000450 NP_000441 P16581 LYAM2_HUMAN Homo sapiens selectin E (SELE), mRNA. 556 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) AGCTACCAAGGGAATGTTGGA 0.473000 12 8 0 0 0.003080 0 0 SAG 6295 broad.mit.edu 37 2 234237135 234237135 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:234237135G>A uc002vuh.2 + 7 912 c.524G>A c.(523-525)cGa>cAa p.R175Q SAG_uc010zmq.1_Missense_Mutation_p.R41Q NM_000541 NP_000532 P10523 ARRS_HUMAN Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA. 175 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) AGCTCCGTGCGATTACTGATC 0.592000 45 28 0 0 0.003755 0 0 FSIP2 401024 broad.mit.edu 37 2 186672381 186672381 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:186672381C>T uc002upl.3 + 16 18615 c.18615C>T c.(18613-18615)aaC>aaT p.N6205N FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TTTCAGAAAACATAGTTGACT 0.393000 42 22 0 0 0.001882 0 0 CD248 57124 broad.mit.edu 37 11 66083162 66083162 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:66083162G>A uc001ohm.1 - 0 1354 c.1337C>T c.(1336-1338)tCc>tTc p.S446F NM_020404 NP_065137 Q9HCU0 CD248_HUMAN Homo sapiens CD248 molecule, endosialin (CD248), mRNA. 446 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CCGGGTGACGGAGAGCACTGA 0.657000 72 36 0 0 0.004878 0 0 DOCK3 1795 broad.mit.edu 37 3 51418527 51418527 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:51418527G>A uc011bds.2 + 52 5653 c.5630G>A c.(5629-5631)gGt>gAt p.G1877D NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 1877 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CCCCAGTCAGGTCTGGACGGC 0.617000 30 19 0 0 0.003330 0 0 NOTCH3 4854 broad.mit.edu 37 19 15302455 15302455 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:15302455C>T uc002nan.3 - 5 892 c.816G>A c.(814-816)acG>acA p.T272T NOTCH3_uc002nao.1_Silent_p.T272T NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 272 EGF-like 6; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) CCACGTCCTCCGTGCAGAACT 0.652000 15 14 0 0 0.003163 0 0 TTN 7273 broad.mit.edu 37 2 179571401 179571401 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179571401C>T uc021vsy.1 - 98 25693 c.25468G>A c.(25468-25470)Ggg>Agg p.G8490R TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5151R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 9417 Ig-like 67. 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) CTCCACTTCCCTTTTGTCCAT 0.408000 81 43 0 0 0.002852 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751234 19751234 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:19751234C>T uc009zzj.3 - 3 994 c.889G>A c.(889-891)Gag>Aag p.E297K NM_006001 NP_525125 Q13748 TBA3C_HUMAN Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA. 297 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TTGGCTGGCTCGAAGCAGGCA 0.607000 63 32 0 0 0.004289 0 0 NAGLU 4669 broad.mit.edu 37 17 40690485 40690485 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:40690485C>T uc002hzv.3 + 2 1000 c.660C>T c.(658-660)atC>atT p.I220I NM_000263 NP_000254 P54802 ANAG_HUMAN Homo sapiens N-acetylglucosaminidase, alpha (NAGLU), mRNA. 220 lysosome alpha-N-acetylglucosaminidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1) 12 all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) N-Acetyl-D-glucosamine(DB00141) CCTGGCACATCAAGCAGCTTT 0.587000 52 20 0 0 0.002780 0 0 NRAP 4892 broad.mit.edu 37 10 115350452 115350452 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:115350452C>T uc001lal.3 - 39 5005 c.4841G>A c.(4840-4842)aGg>aAg p.R1614K NRAP_uc009xyb.3_Missense_Mutation_p.R367K|NRAP_uc001laj.3_Missense_Mutation_p.R1614K|NRAP_uc001lak.3_Missense_Mutation_p.R1579K NM_198060 NP_932326 Q86VF7 NRAP_HUMAN Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA. 1614 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CTGCTGGCTCCTCTTGGCCTG 0.632000 68 20 0 0 0.001216 0 0 OR5M11 219487 broad.mit.edu 37 11 56310298 56310298 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:56310298A>T uc010rjl.2 - 0 436 c.436T>A c.(436-438)Ttt>Att p.F146I OR8U8_uc001nit.2_Intron NM_001005245 NP_001005245 Q96RB7 OR5MB_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA. 146 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.T145K(1)|p.T145S(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 ACATAGGGAAATGTGGCCAAG 0.517000 17 6 0 0 0.001168 0 0 C19orf53 28974 broad.mit.edu 37 19 13888974 13888974 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:13888974G>A uc002mxg.3 + 2 297 c.262G>A c.(262-264)Ggg>Agg p.G88R NM_014047 NP_054766 Q9UNZ5 L10K_HUMAN Homo sapiens chromosome 19 open reading frame 53 (C19orf53), mRNA. 88 breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 6 OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19) CAAGAAGAAAGGGGCAGCTGC 0.597000 43 14 0 0 0.001855 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96581911 96581911 + RNA SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:96581911G>A uc002sva.1 - 17 c.860C>T ANKRD36C_uc002svc.1_Non-coding_Transcript Homo sapiens cDNA FLJ41632 fis, clone FCBBF1000297, highly similar to Human protein immuno-reactive with anti-PTH polyclonal antibodies mRNA. breast(1)|endometrium(8)|kidney(5)|lung(4) 18 GGTTTTTTCCGAGAAGACACT 0.343000 7 10 0 0 0.001368 0 0 GABRA2 2555 broad.mit.edu 37 4 46307625 46307625 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:46307625C>T uc011bzc.1 - 5 910 c.498G>A c.(496-498)ctG>ctA p.L166L GABRA2_uc003gxc.3_Silent_p.L221L|GABRA2_uc010igc.2_Silent_p.L221L|GABRA2_uc003gxe.3_Silent_p.L221L P47869 GBRA2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA. 221 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity p.C166Y(1) NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TTGATTGGCCCAGCAGGTCAT 0.368000 40 19 0 0 0.001216 0 0 GRAMD4 23151 broad.mit.edu 37 22 47059987 47059987 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:47059987C>T uc003bhx.3 + 6 739 c.690C>T c.(688-690)tcC>tcT p.S230S GRAMD4_uc010had.3_Silent_p.S169S NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA. 230 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) ACTGGTACTCCGTCTACACGT 0.597000 55 27 0 0 0.001786 0 0 LLGL1 3996 broad.mit.edu 37 17 18143971 18143971 + Silent SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:18143971A>G uc002gsp.3 + 16 2347 c.2286A>G c.(2284-2286)gcA>gcG p.A762A NM_004140 NP_004131 Q15334 L2GL1_HUMAN Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA. 762 cortical actin cytoskeleton organization|exocytosis|protein complex assembly cortical actin cytoskeleton protein kinase binding|structural molecule activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 21 all_neural(463;0.228) TGCCGGCAGCAGCAGTGGGTG 0.662000 21 18 0 0 0.004990 0 0 HRNR 388697 broad.mit.edu 37 1 152188153 152188153 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:152188153G>A uc001ezt.1 - 2 6028 c.5952C>T c.(5950-5952)tcC>tcT p.S1984S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 1984 keratinization calcium ion binding|protein binding p.S1984S(2) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AAGAGTGACCGGAGCCAGACT 0.592000 459 17 0 0 0.003330 0 0 BARD1 580 broad.mit.edu 37 2 215645294 215645294 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:215645294G>A uc002veu.2 - 3 1439 c.1304C>T c.(1303-1305)gCt>gTt p.A435V BARD1_uc021vwe.1_Missense_Mutation_p.A416V|BARD1_uc021vwf.1_Missense_Mutation_p.A338V|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.A291V|BARD1_uc021vwj.1_Intron NM_000465 NP_000456 Q99728 BARD1_HUMAN Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA. 435 DNA repair|cell cycle arrest|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm RNA binding|kinase binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTTAATAGAAGCAATATGGAG 0.393000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 7 8 0 0 0.006214 0 0 PLCB4 5332 broad.mit.edu 37 20 9351883 9351883 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:9351883G>A uc021wam.1 + 6 541 c.526G>A c.(526-528)Gga>Aga p.G176R PLCB4_uc010gbw.1_Missense_Mutation_p.G176R|PLCB4_uc010gbx.3_Missense_Mutation_p.G176R|PLCB4_uc021wal.1_Missense_Mutation_p.G176R|PLCB4_uc002wnh.3_Missense_Mutation_p.G23R NM_000933 NP_000924 Q15147 PLCB4_HUMAN Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA. 176 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity p.G176E(1)|p.S175S(1) 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 ATTTGCATCGGGAAAAACAGA 0.358000 54 18 0 0 0.001216 0 0 ZNF587 84914 broad.mit.edu 37 19 58370775 58370775 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:58370775C>T uc002qql.3 + 2 1221 c.995C>T c.(994-996)tCt>tTt p.S332F ZNF587_uc002qqb.2_Missense_Mutation_p.S289F|ZNF587_uc002qqi.2_Missense_Mutation_p.S289F|ZNF587_uc010yhh.2_Missense_Mutation_p.S289F|ZNF587_uc021vco.1_Missense_Mutation_p.S332F|ZNF587_uc002qqj.1_Non-coding_Transcript|ZNF814_uc002qqk.2_Intron|ZNF587_uc010yhk.2_Missense_Mutation_p.S331F|ZNF587_uc021vcq.1_5'Flank NM_032828 NP_116217 Q96SQ5 ZN587_HUMAN Homo sapiens zinc finger protein 587 (ZNF587), transcript variant 1, mRNA. 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 15 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264) TGTGGGAAATCTTTTGGTCAA 0.458000 78 44 0 0 0.003610 0 0 CARD11 84433 broad.mit.edu 37 7 2952950 2952951 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2952950_2952951CC>TT uc003smv.3 - 21 3323_3324 c.2989_2990GG>AA c.(2989-2991)ggt>AAt p.G997N NM_032415 NP_115791 Q9BXL7 CAR11_HUMAN Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA. 997 Guanylate kinase-like. T cell costimulation|T cell receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of cytokine production|regulation of apoptosis cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) CTCCATGGCACCTCCCGAGTTG 0.668000 Mis DLBCL 60 23 0 0 0.004672 0 0 FMN2 56776 broad.mit.edu 37 1 240370124 240370124 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:240370124G>A uc010pye.2 + 5 2249 c.2024G>A c.(2023-2025)gGa>gAa p.G675E FMN2_uc010pyd.2_Missense_Mutation_p.G671E NM_020066 NP_064450 Q9NZ56 FMN2_HUMAN Homo sapiens formin 2 (FMN2), mRNA. 671 actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) AAGTCTGAGGGACAGGCCACT 0.428000 25 13 0 0 0.004007 0 0 ADIPOR1 51094 broad.mit.edu 37 1 202914124 202914124 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:202914124G>A uc001gyq.4 - 4 871 c.604C>T c.(604-606)Cgg>Tgg p.R202W ADIPOR1_uc010pqd.2_Missense_Mutation_p.R126W|ADIPOR1_uc001gyr.4_Intron|ADIPOR1_uc001gys.4_Missense_Mutation_p.R202W NM_015999 NP_057083 Q96A54 ADR1_HUMAN Homo sapiens adiponectin receptor 1 (ADIPOR1), transcript variant 1, mRNA. 202 fatty acid oxidation|hormone-mediated signaling pathway integral to membrane|plasma membrane hormone binding|protein kinase binding|receptor activity p.R202R(2) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 16 BRCA - Breast invasive adenocarcinoma(75;0.141) GAAAAAGTCCGAGAGACTTTC 0.453000 75 39 0 0 0.002222 0 0 MTERFD2 130916 broad.mit.edu 37 2 242039099 242039099 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:242039099G>A uc002wan.1 - 0 812 c.319C>T c.(319-321)Ctt>Ttt p.L107F MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.L78F NM_182501 NP_872307 Q7Z6M4 MTER2_HUMAN Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA. 78 endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3) 20 all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886) TGCTTCTCAAGGAGGCACTGA 0.493000 38 30 0 0 0.001512 0 0 MXRA5 25878 broad.mit.edu 37 X 3261829 3261829 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:3261829G>A uc004crg.4 - 1 203 c.46C>T c.(46-48)Ctg>Ttg p.L16L NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 16 extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CCCCAAAGCAGGATCAGCACC 0.642000 4 9 0 0 0.000673 0 0 SCAF1 58506 broad.mit.edu 37 19 50156133 50156133 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50156133G>A uc002poq.3 + 6 2611 c.2487G>A c.(2485-2487)cgG>cgA p.R829R NM_021228 NP_067051 Q9H7N4 SFR19_HUMAN Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA. 829 RNA splicing|mRNA processing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GTTCTTCCCGGAAGGTGAAGC 0.677000 13 8 0 0 0.006214 0 0 GAPDHS 26330 broad.mit.edu 37 19 36029566 36029566 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:36029566G>A uc002oaf.1 + 3 546 c.430G>A c.(430-432)Gag>Aag p.E144K NM_014364 NP_055179 O14556 G3PT_HUMAN Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA. 144 gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility cytosol NAD binding|glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(8) 11 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) NADH(DB00157) GGACAACCATGAGATCTCTGT 0.512000 21 13 0 0 0.002450 0 0 SLC22A25 387601 broad.mit.edu 37 11 62997106 62997106 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62997106G>A uc001nwr.1 - 0 19 c.19C>T c.(19-21)Cta>Tta p.L7L SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Silent_p.L7L NM_199352 NP_955384 Q6T423 S22AP_HUMAN Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA. 7 transmembrane transport integral to membrane p.L6I(1) NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 ACTTGATCTAGGAGGTCCTGA 0.423000 22 19 0 0 0.007413 0 0 DGKB 1607 broad.mit.edu 37 7 14620486 14620487 + Splice_Site DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:14620486_14620487CC>TT uc003ssz.3 - 18 1799 c.1612_splice c.e18+1 p.G538_splice DGKB_uc011jxt.2_Splice_Site_p.G519_splice|DGKB_uc003sta.3_Splice_Site_p.G538_splice|DGKB_uc011jxu.2_Splice_Site_p.G537_splice NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 538 DAGKc. 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) AGCTGCTTTACCTCCTCCCCAT 0.436000 35 11 0 0 0.004672 0 0 OR5A2 219981 broad.mit.edu 37 11 59190041 59190041 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59190041T>C uc010rkt.2 - 0 386 c.386A>G c.(385-387)aAc>aGc p.N129S NM_001001954 NP_001001954 Q8NGI9 OR5A2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA. 129 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 AAGCAAGGGGTTGCAGATTGC 0.478000 18 9 0 0 0.006214 0 0 SCN11A 11280 broad.mit.edu 37 3 38927620 38927620 + Missense_Mutation SNP C T T rs34292484 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:38927620C>T uc021wvy.1 - 15 3144 c.2945G>A c.(2944-2946)cGa>cAa p.R982Q SCN11A_uc010hhn.1_Intron NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA. 982 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) AATTACCTTTCGGGGATCCTG 0.448000 37 16 0 0 0.001216 0 0 ANKMY1 51281 broad.mit.edu 37 2 241465794 241465794 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:241465794G>A uc010fzd.1 - 5 1147 c.1022C>T c.(1021-1023)cCc>cTc p.P341L ANKMY1_uc002vzb.1_Intron|ANKMY1_uc002vzc.1_Intron|ANKMY1_uc002vyz.1_Missense_Mutation_p.P252L|ANKMY1_uc002vza.1_Intron|ANKMY1_uc002vzd.1_Intron|ANKMY1_uc010fze.2_Intron|ANKMY1_uc002vze.3_Intron NM_016552 NP_057636 Q9P2S6 ANKY1_HUMAN Homo sapiens ankyrin repeat and MYND domain containing 1 (ANKMY1), transcript variant 1, mRNA. 252 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) GGGCCCACAGGGTGCAAAGCC 0.527000 24 11 0 0 0.000978 0 0 LPIN1 23175 broad.mit.edu 37 2 11923964 11923964 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:11923964G>A uc010yjm.2 + 9 1474 c.1421G>A c.(1420-1422)aGc>aAc p.S474N LPIN1_uc010yjn.2_Missense_Mutation_p.S389N|LPIN1_uc002rbt.3_Missense_Mutation_p.S389N|LPIN1_uc002rbs.3_Missense_Mutation_p.S425N NM_145693 NP_663731 Q14693 LPIN1_HUMAN Homo sapiens lipin 1 (LPIN1), mRNA. 389 fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization cytosol|endoplasmic reticulum membrane phosphatidate phosphatase activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173) GATAAACGAAGCCGACATCTT 0.428000 128 67 0 0 0.003610 0 0 CCDC81 60494 broad.mit.edu 37 11 86131096 86131096 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:86131096G>A uc001pbx.2 + 14 2245 c.1817_splice c.e14+1 p.R606_splice CCDC81_uc001pbw.2_Splice_Site_p.R516_splice|CCDC81_uc010rtq.2_Splice_Site_p.R389_splice|CCDC81_uc001pby.2_Splice_Site_p.R341_splice NM_001156474 NP_001149946 Q6ZN84 CCD81_HUMAN Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA. 606 kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535) CTTTTGAACGGTAATGCCTGA 0.502000 40 19 0 0 0.001216 0 0 SNRPN 6638 broad.mit.edu 37 15 25438355 25438355 + RNA SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:25438355C>T uc001yzf.1 + 2 c.233C>T SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank P63162 RSMN_HUMAN Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. RNA splicing small nuclear ribonucleoprotein complex|spliceosomal complex RNA binding|identical protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2) 24 all_cancers(20;9.33e-22)|Breast(32;0.000625) all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125) TGCTGAGCCCCTGGTGCACTG 0.597000 Prader-Willi syndrome 21 6 0 0 0.001168 0 0 MESP2 145873 broad.mit.edu 37 15 90321454 90321454 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:90321454C>T uc002bon.3 + 1 1083 c.1083C>T c.(1081-1083)gcC>gcT p.A361A MESP2_uc010uqa.2_Silent_p.A63A NM_001039958 NP_001035047 Q0VG99 MESP2_HUMAN Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA. 361 Notch signaling pathway nucleus DNA binding kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 6 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514) CGGGCGCCGCCTTCCAGCTCA 0.657000 12 13 0 0 0.001855 0 0 NOS1 4842 broad.mit.edu 37 12 117703233 117703233 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:117703233C>T uc001twn.2 - 11 2735 c.2024G>A c.(2023-2025)gGg>gAg p.G675E NOS1_uc021ren.1_Missense_Mutation_p.G339E|NOS1_uc021reo.1_Missense_Mutation_p.G339E|NOS1_uc001twm.2_Missense_Mutation_p.G675E NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 675 multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.G675G(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGGGCAGCCCCCCCGGCAGCG 0.607000 5 8 0 0 0.003080 0 0 OR4Q3 441669 broad.mit.edu 37 14 20216336 20216336 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20216336G>A uc010tkt.2 + 0 750 c.750G>A c.(748-750)ctG>ctA p.L250L NM_172194 NP_751944 Q8NH05 OR4Q3_HUMAN Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA. 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGTCAGCCTGATCTTCGTGC 0.458000 69 33 0 0 0.006999 0 0 DGKB 1607 broad.mit.edu 37 7 14613939 14613939 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:14613939G>A uc003ssz.3 - 18 1858 c.1671C>T c.(1669-1671)atC>atT p.I557I DGKB_uc011jxt.2_Silent_p.I538I|DGKB_uc003sta.3_Silent_p.I557I|DGKB_uc011jxu.2_Silent_p.I556I NM_004080 NP_004071 Q9Y6T7 DGKB_HUMAN Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA. 557 DAGKc. 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) TGTCCAACATGATTTCTGTGC 0.368000 59 36 0 0 0.003755 0 0 TRIM55 84675 broad.mit.edu 37 8 67039668 67039668 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:67039668C>T uc003xvv.3 + 0 391 c.165C>T c.(163-165)ttC>ttT p.F55F TRIM55_uc003xvu.3_Silent_p.F55F|TRIM55_uc003xvw.3_Silent_p.F55F|TRIM55_uc003xvx.3_Silent_p.F55F NM_184085 NP_908973 Q9BYV6 TRI55_HUMAN Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA. 55 cytoplasm|microtubule|nucleus signal transducer activity|zinc ion binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2) 39 Lung NSC(129;0.138)|all_lung(136;0.221) Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) GTGATATTTTCCAGGTAGGTT 0.438000 211 42 0 0 0.003214 0 0 OR52I2 143502 broad.mit.edu 37 11 4608931 4608931 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:4608931G>A uc010qyh.2 + 0 911 c.889G>A c.(889-891)Gat>Aat p.D297N NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.D297G(1) endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 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) GTTGGGGCAGGATGTAGTGCC 0.512000 41 34 0 0 0.004878 0 0 OBSCN 84033 broad.mit.edu 37 1 228432138 228432138 + Missense_Mutation SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:228432138C>A uc009xez.1 + 10 3391 c.3347C>A c.(3346-3348)tCc>tAc p.S1116Y OBSCN_uc001hsn.3_Missense_Mutation_p.S1116Y NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 1116 Ig-like 11.|Poly-Ser. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) AAGCTGAGCTCCAGCTCAAAA 0.637000 34 18 5.35267e-07 6.66695e-07 0.007413 1 0 RDH8 50700 broad.mit.edu 37 19 10129494 10129494 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:10129494G>A uc002mmr.3 + 2 599 c.350G>A c.(349-351)gGa>gAa p.G117E NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA. 117 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane NADP-retinol dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1) 21 Epithelial(33;4.24e-05) Vitamin A(DB00162) AACTTTTTCGGAGCTGTCCGT 0.577000 58 25 0 0 0.003330 0 0 NOL4 8715 broad.mit.edu 37 18 31673492 31673492 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:31673492C>T uc010dmi.3 - 4 1007 c.709G>A c.(709-711)Gat>Aat p.D237N NOL4_uc002kxr.4_Missense_Mutation_p.D73N|NOL4_uc010xbt.2_Missense_Mutation_p.D163N|NOL4_uc010dmh.3_Missense_Mutation_p.D163N|NOL4_uc010xbu.2_Missense_Mutation_p.D237N|NOL4_uc002kxt.4_Missense_Mutation_p.D237N NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 237 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 GAGCTAAGATCAGAGTTCACA 0.363000 10 18 0 0 0.004990 0 0 PTX4 390667 broad.mit.edu 37 16 1537418 1537418 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:1537418C>T uc010uvf.2 - 1 680 c.680G>A c.(679-681)gGg>gAg p.G227E NM_001013658 NP_001013680 Q96A99 PTX4_HUMAN Homo sapiens pentraxin 4, long (PTX4), mRNA. 232 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 CTCCCGCCTCCCTTGGAGAGG 0.687000 18 11 0 0 0.001855 0 0 CACNA1S 779 broad.mit.edu 37 1 201035439 201035439 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:201035439C>T uc001gvv.3 - 20 2890 c.2663G>A c.(2662-2664)aGt>aAt p.S888N NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 888 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGAGATGGCACTGGACCTGGG 0.657000 34 11 0 0 0.001368 0 0 ALPK2 115701 broad.mit.edu 37 18 56184389 56184389 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr18:56184389T>C uc002lhj.4 - 8 5905 c.5691A>G c.(5689-5691)caA>caG p.Q1897Q NM_052947 NP_443179 Q86TB3 ALPK2_HUMAN Homo sapiens alpha-kinase 2 (ALPK2), mRNA. 1897 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 TGAAGATGAGTTGGCTGAATT 0.532000 5 8 0 0 0.000673 0 0 CASC5 57082 broad.mit.edu 37 15 40901050 40901050 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:40901050C>T uc010bbs.1 + 4 302 c.141C>T c.(139-141)tcC>tcT p.S47S CASC5_uc010ucq.1_5'UTR|CASC5_uc001zme.3_Silent_p.S47S|CASC5_uc010bbt.1_Silent_p.S47S NM_170589 NP_733468 Q8NG31 CASC5_HUMAN Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA. 47 Interaction with BUB1 and BUB1B. CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) CTTAGGAATCCAATGCTTTGA 0.313000 19 5 0 0 0.000602 0 0 BTNL8 79908 broad.mit.edu 37 5 180377111 180377111 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:180377111T>G uc003mmp.3 + 7 1304 c.1070T>G c.(1069-1071)gTg>gGg p.V357G BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Missense_Mutation_p.V232G|BTNL8_uc010jlm.3_Missense_Mutation_p.V241G|BTNL8_uc011dhh.2_Missense_Mutation_p.V173G NM_001040462 NP_001153182 Q6UX41 BTNL8_HUMAN Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA. 357 B30.2/SPRY. integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CGCGTGGGAGTGTGCCGGGAT 0.502000 12 18 0 0 0.001216 0 0 TNR 7143 broad.mit.edu 37 1 175375790 175375790 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:175375790G>A uc001gkp.1 - 0 142 c.61C>T c.(61-63)Ctt>Ttt p.L21F TNR_uc009wwu.1_Missense_Mutation_p.L21F|TNR_uc010pmz.1_Missense_Mutation_p.L21F NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 21 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.I20I(1) NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GAGCCCAGAAGGATCAGGTTG 0.552000 60 26 0 0 0.003954 0 0 JPH3 57338 broad.mit.edu 37 16 87723259 87723259 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:87723259G>A uc002fkd.3 + 3 1547 c.1293G>A c.(1291-1293)gaG>gaA p.E431E JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 431 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) CAGGGCTGGAGTACCAGAGGC 0.667000 2 5 0 0 0.001168 0 0 JPH1 56704 broad.mit.edu 37 8 75227679 75227679 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:75227679G>A uc003yae.3 - 1 596 c.556C>T c.(556-558)Ccg>Tcg p.P186S JPH1_uc003yaf.3_Missense_Mutation_p.P186S|JPH1_uc003yag.1_Missense_Mutation_p.P50S NM_020647 NP_065698 Q9HDC5 JPH1_HUMAN Homo sapiens junctophilin 1 (JPH1), mRNA. 186 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 24 Breast(64;0.00576) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176) GTGCCGGCCGGGCTGTCGGCG 0.701000 24 4 0 0 0.000248 0 0 EPB41L5 57669 broad.mit.edu 37 2 120858317 120858317 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:120858317T>G uc002tmg.3 + 15 1455 c.1264T>G c.(1264-1266)Tcc>Gcc p.S422A EPB41L5_uc010flk.3_Missense_Mutation_p.S422A|EPB41L5_uc010fll.3_Missense_Mutation_p.S422A|EPB41L5_uc002tmh.4_Missense_Mutation_p.S422A|EPB41L5_uc010flm.3_Missense_Mutation_p.S226A NM_020909 NP_065960 Q9HCM4 E41L5_HUMAN Homo sapiens erythrocyte membrane protein band 4.1 like 5 (EPB41L5), transcript variant 1, mRNA. 422 cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1) 26 TCCTTccatttcctctgctcc 0.413000 9 8 0 0 0.004482 0 0 MEPCE 56257 broad.mit.edu 37 7 100029261 100029261 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100029261C>T uc003uuw.3 + 0 2008 c.1620C>T c.(1618-1620)ccC>ccT p.P540P ZCWPW1_uc003uut.3_5'Flank|ZCWPW1_uc011kjr.2_5'Flank|ZCWPW1_uc011kjt.1_5'Flank|ZCWPW1_uc011kju.1_5'Flank|MEPCE_uc022ain.1_Silent_p.P71P|MEPCE_uc022aio.1_Silent_p.P71P|MEPCE_uc003uuv.3_Silent_p.P71P NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA. 540 Bin3-type SAM. methyltransferase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CCCAAGTGCCCTTGGATGGAG 0.607000 20 5 0 0 0.000602 0 0 TNR 7143 broad.mit.edu 37 1 175355369 175355369 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:175355369G>A uc001gkp.1 - 5 1657 c.1576C>T c.(1576-1578)Ccc>Tcc p.P526S TNR_uc009wwu.1_Missense_Mutation_p.P526S NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 526 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GCTCGAGGGGGAATCCACTCC 0.542000 12 5 0 0 0.001168 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47123661 47123661 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:47123661G>A uc002iom.3 + 13 1901 c.1567G>A c.(1567-1569)Gta>Ata p.V523I IGF2BP1_uc010dbj.3_Missense_Mutation_p.V384I NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 523 KH 4.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity). CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 TGAGGTGGTAGTACCAAGAGA 0.547000 32 23 0 0 0.003954 0 0 ANGPTL7 10218 broad.mit.edu 37 1 11254941 11254942 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:11254941_11254942CC>TT uc001ase.3 + 4 1141_1142 c.902_903CC>TT c.(901-903)tcc>tTT p.S301F MTOR_uc001asd.3_Intron NM_021146 NP_066969 O43827 ANGL7_HUMAN Homo sapiens angiopoietin-like 7 (ANGPTL7), mRNA. 301 Fibrinogen C-terminal. response to oxidative stress|signal transduction extracellular region receptor binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487) TGCACAGACTCCAACCTCAATG 0.515000 24 10 0 0 0.004672 0 0 NLRP11 204801 broad.mit.edu 37 19 56321022 56321022 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:56321022C>T uc010ygf.2 - 4 1665 c.954G>A c.(952-954)agG>agA p.R318R NLRP11_uc002qlz.3_Silent_p.R219R|NLRP11_uc002qmb.3_Silent_p.R219R|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript NM_145007 NP_659444 P59045 NAL11_HUMAN Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA. 318 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CTGCCGACGCCCTCTGGCGGT 0.498000 13 9 0 0 0.004482 0 0 FAM74A3 728495 broad.mit.edu 37 9 40716266 40716266 + RNA SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:40716266A>T uc010mmk.2 + 0 c.743A>T Homo sapiens family with sequence similarity 74, member A3 (FAM74A3), non-coding RNA. endometrium(1)|large_intestine(2)|lung(6)|skin(1) 10 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) CATCAATTTTAGTAATTCAGG 0.428000 45 7 0 0 0.004482 0 0 GYS2 2998 broad.mit.edu 37 12 21728963 21728963 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:21728963C>T uc001rfb.3 - 2 587 c.332G>A c.(331-333)gGa>gAa p.G111E NM_021957 NP_068776 P54840 GYS2_HUMAN Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA. 111 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity p.E110*(1) NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ATAAGGACTTCCTTCTATCAG 0.433000 38 16 0 0 0.003163 0 0 ANTXR2 118429 broad.mit.edu 37 4 80952847 80952847 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:80952847C>T uc003hlz.4 - 10 1560 c.797_splice c.e10-1 p.S266_splice ANTXR2_uc003hly.4_Splice_Site_p.S266_splice|ANTXR2_uc003hlx.1_Splice_Site|ANTXR2_uc010ijn.3_Intron NM_001145794 NP_001139266 P58335 ANTR2_HUMAN Homo sapiens anthrax toxin receptor 2 (ANTXR2), transcript variant 2, mRNA. 266 endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane metal ion binding|protein binding|receptor activity endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1) 13 GGTTTTACACCTAGAAAATAA 0.323000 Juvenile Hyaline Fibromatosis 6 3 0 0 0.000248 0 0 XKR4 114786 broad.mit.edu 37 8 56436480 56436480 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:56436480C>T uc003xsf.3 + 2 1679 c.1647C>T c.(1645-1647)atC>atT p.I549I NM_052898 NP_443130 Q5GH76 XKR4_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA. 549 integral to membrane NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 Epithelial(17;0.000117)|all cancers(17;0.000836) TACGGTCCATCTCCAACAACC 0.592000 48 15 0 0 0.004990 0 0 NKAIN2 154215 broad.mit.edu 37 6 124979392 124979392 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:124979392G>A uc003pzo.3 + 3 611 c.334G>A c.(334-336)Gga>Aga p.G112R NKAIN2_uc003pzn.1_Missense_Mutation_p.G112R|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Missense_Mutation_p.G111R|NKAIN2_uc010ker.3_Missense_Mutation_p.G22R NM_001040214 NP_001035304 Q5VXU1 NKAI2_HUMAN Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA. 112 integral to membrane|plasma membrane cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2) 19 GBM - Glioblastoma multiforme(226;0.104) GATGGAGAATGGACCAGGATG 0.473000 20 20 0 0 0.002780 0 0 SLIT2 9353 broad.mit.edu 37 4 20611732 20611732 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:20611732C>T uc003gpr.1 + 33 3993 c.3789C>T c.(3787-3789)atC>atT p.I1263I SLIT2_uc003gps.1_Silent_p.I1255I NM_004787 NP_004778 O94813 SLIT2_HUMAN Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA. 1263 Laminin G-like. Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 ACCCCAAAATCATCACTAACT 0.453000 19 11 0 0 0.000978 0 0 RGS12 6002 broad.mit.edu 37 4 3318983 3318983 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:3318983G>A uc003ggw.3 + 1 1990 c.1086G>A c.(1084-1086)gaG>gaA p.E362E RGS12_uc003ggu.2_Silent_p.E362E|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Silent_p.E362E|RGS12_uc003ggx.1_Silent_p.E362E NM_198229 NP_937872 O14924 RGS12_HUMAN Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA. 362 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTGGGTTTGAGTGCACGGCCG 0.592000 43 17 0 0 0.004990 0 0 KLK9 284366 broad.mit.edu 37 19 51512788 51512788 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:51512788G>A uc002pux.1 - 0 103 c.16C>T c.(16-18)Ctc>Ttc p.L6F KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P29L NM_012315 NP_036447 Q9UKQ9 KLK9_HUMAN Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA. 6 proteolysis extracellular region serine-type endopeptidase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1) 7 all_neural(266;0.0652) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885) AGAGCACAGAGGAGTCCCAGC 0.607000 14 14 0 0 0.002450 0 0 DRGX 644168 broad.mit.edu 37 10 50574372 50574372 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:50574372G>A uc010qgq.2 - 5 596 c.596C>T c.(595-597)cCc>cTc p.P199L DRGX_uc021pqd.1_Missense_Mutation_p.P194L NM_001080520 NP_001073989 C9JW76 C9JW76_HUMAN Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA. 199 multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5) 11 GCCATAGGTGGGAAGGAAGGA 0.607000 35 25 0 0 0.004656 0 0 DNAH7 56171 broad.mit.edu 37 2 196753008 196753008 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:196753008C>T uc002utj.4 - 32 5481 c.5380G>A c.(5380-5382)Gtt>Att p.V1794I NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 1794 AAA 2 (By similarity). 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 ATAAATTCAACCGAAACAGGG 0.328000 13 6 0 0 0.003080 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450057 105450057 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105450057A>G uc022cca.1 + 0 632 c.632A>G c.(631-633)aAg>aGg p.K211R MUM1L1_uc004emg.2_Missense_Mutation_p.K211R|MUM1L1_uc004emf.2_Missense_Mutation_p.K211R NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 211 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 AACAAGAATAAGATTGATATC 0.383000 2 12 0 0 0.001368 0 0 SIRT1 23411 broad.mit.edu 37 10 69651312 69651312 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:69651312G>A uc001jnd.3 + 4 995 c.942_splice c.e4+1 p.K314_splice SIRT1_uc010qis.2_Splice_Site_p.K19_splice|SIRT1_uc009xpp.3_Splice_Site_p.K122_splice|SIRT1_uc001jne.3_Splice_Site NM_012238 NP_001135970 Q96EB6 SIRT1_HUMAN Homo sapiens sirtuin 1 (SIRT1), transcript variant 1, mRNA. 314 Deacetylase sirtuin-type. DNA repair|DNA replication|apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of DNA repair|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|rRNA processing|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation PML body|chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|rDNA heterochromatin HLH domain binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|bHLH transcription factor binding|histone binding|identical protein binding|mitogen-activated protein kinase binding|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1) 14 AGTTTGCAAAGGTACTATGAA 0.378000 97 50 0 0 0.003610 0 0 NR4A2 4929 broad.mit.edu 37 2 157186237 157186237 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:157186237C>T uc002tyz.4 - 2 884 c.462G>A c.(460-462)caG>caA p.Q154Q NR4A2_uc021vri.1_Silent_p.Q154Q|NR4A2_uc002tyx.4_Silent_p.Q91Q|NR4A2_uc010zcf.2_Silent_p.Q154Q|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA. 154 Pro-rich. cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 CCACGTAGTTCTGGTGGAAGT 0.632000 77 48 0 0 0.003214 0 0 ATF6 22926 broad.mit.edu 37 1 161821621 161821621 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:161821621C>T uc001gbs.3 + 10 1546 c.1429C>T c.(1429-1431)Ctc>Ttc p.L477F ATF6_uc001gbq.2_Missense_Mutation_p.L477F NM_007348 NP_031374 P18850 ATF6A_HUMAN Homo sapiens activating transcription factor 6 (ATF6), mRNA. 477 positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) AACAGAGTCTCTCAGGTGAGT 0.413000 57 21 0 0 0.002299 0 0 ARFGEF2 10564 broad.mit.edu 37 20 47585801 47585801 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:47585801C>T uc002xtx.4 + 8 1329 c.1177C>T c.(1177-1179)Cct>Tct p.P393S NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA. 393 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction Golgi membrane|cytosol ARF guanyl-nucleotide exchange factor activity breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 63 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) TGGTGAAGGCCCTCCAGACCC 0.527000 40 29 0 0 0.002445 0 0 CDK4 1019 broad.mit.edu 37 12 58143034 58143035 + Missense_Mutation DNP GG AT AT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:58143034_58143035GG>AT uc001spv.3 - 6 1041_1042 c.749_750CC>AT c.(748-750)ccc>cAT p.P250H CDK4_uc010ssb.2_Missense_Mutation_p.P130H|CDK4_uc001spw.3_Non-coding_Transcript|DM110804_uc010ssc.1_5'Flank NM_000075 NP_000066 P11802 CDK4_HUMAN Homo sapiens cyclin-dependent kinase 4 (CDK4), mRNA. 250 Protein kinase. G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|cell division|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 21 all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294) GCCCTCTGGGGGGAAAGGCTCC 0.639000 Mis melanoma Hereditary Melanoma 33 16 0 0 0.004672 0 0 HECW2 57520 broad.mit.edu 37 2 197297971 197297971 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:197297971G>A uc002utm.1 - 1 360 c.177C>T c.(175-177)tcC>tcT p.S59S NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 59 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CAGTTAAGCTGGAGCGGCTCT 0.572000 38 15 0 0 0.006122 0 0 UGT8 7368 broad.mit.edu 37 4 115544111 115544111 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:115544111C>T uc003ibs.2 + 1 597 c.75C>T c.(73-75)atC>atT p.I25I UGT8_uc003ibt.2_Silent_p.I25I|UGT8_uc011cge.1_Non-coding_Transcript NM_001128174 NP_003351 Q16880 CGT_HUMAN Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA. 25 central nervous system development|peripheral nervous system development integral to membrane 2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 31 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000632) AAATCATCATCGTGCCGCCAA 0.453000 21 8 0 0 0.004482 0 0 ACACB 32 broad.mit.edu 37 12 109673144 109673144 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:109673144C>T uc001tob.3 + 31 4493 c.4374C>T c.(4372-4374)ctC>ctT p.L1458L ACACB_uc001toc.3_Silent_p.L1458L|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.L124L NM_001093 NP_001084 O00763 ACACB_HUMAN Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA. 1458 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation Golgi apparatus|cytosol|endomembrane system|membrane ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ATTATGGACTCCGACGAATCA 0.388000 40 14 0 0 0.004007 0 0 OR10K2 391107 broad.mit.edu 37 1 158390228 158390228 + Silent SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158390228T>G uc010pii.2 - 0 429 c.429A>C c.(427-429)ggA>ggC p.G143G NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) CAGCCACTAGTCCCATACACA 0.488000 41 5 0 0 0.000673 0 0 AKR1C4 1109 broad.mit.edu 37 10 5242283 5242283 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:5242283A>G uc001ihw.2 + 1 257 c.224A>G c.(223-225)aAg>aGg p.K75R NM_001818 NP_001809 P17516 AK1C4_HUMAN Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA. 75 androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 18 NADH(DB00157) GGCAGTGTGAAGAGAGAAGAC 0.418000 49 23 0 0 0.003954 0 0 THSD7B 80731 broad.mit.edu 37 2 138413140 138413140 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:138413140C>T uc002tva.1 + 20 3925 c.3925C>T c.(3925-3927)Cat>Tat p.H1309Y THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. 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) TTCAATATCTCATGCAGCTGG 0.512000 6 6 0 0 0.003080 0 0 KIF17 57576 broad.mit.edu 37 1 21011438 21011439 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:21011438_21011439CC>TT uc001bdr.4 - 9 2212_2213 c.2094_2095GG>AA c.(2092-2097)caggcc>caAAcc p.A699T KIF17_uc001bdp.4_5'UTR|KIF17_uc009vpx.3_Missense_Mutation_p.A69T|KIF17_uc001bds.4_Missense_Mutation_p.A699T NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA. 699 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209) GCCACCGGGGCCTGAGCCTCCA 0.649000 6 3 0 0 0.004672 0 0 SHANK2 22941 broad.mit.edu 37 11 70331925 70331925 + Silent SNP G A A rs140434354 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:70331925G>A uc001oqc.3 - 20 4387 c.4275C>T c.(4273-4275)atC>atT p.I1425I SHANK2_uc010rqn.2_Silent_p.I901I|SHANK2_uc001opz.3_Silent_p.I896I|BC127192_uc009ysn.1_Intron|SHANK2_uc001opy.3_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1112 SAM. intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) CCACCTCCTCGATCCCAGAGT 0.592000 22 13 0 0 0.003163 0 0 SLC45A3 85414 broad.mit.edu 37 1 205589704 205589704 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:205589704G>A uc001hcy.2 - 2 1720 c.470C>T c.(469-471)tCc>tTc p.S157F SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.S157F NM_001973 NP_001964 Q96JT2 S45A3_HUMAN Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA. 0 transmembrane transport integral to membrane SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5) 21 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0194) TACATTGGAGGAGTTCAAAGA 0.433000 T """ETV1, ETV5, ELK4, ERG""" prostate 33 21 0 0 0.002780 0 0 TEX11 56159 broad.mit.edu 37 X 70073179 70073179 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70073179C>T uc004dyl.3 - 7 532 c.370_splice c.e7-1 p.M124_splice TEX11_uc004dym.3_Splice_Site_p.M109_splice NM_001003811 NP_001003811 Q8IYF3 TEX11_HUMAN Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA. 124 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) TCATATTCATCTAGAAGAGAG 0.348000 1 8 0 0 0.003080 0 0 RFX4 5992 broad.mit.edu 37 12 107002601 107002601 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:107002601G>A uc001tlt.3 + 1 237 c.97G>A c.(97-99)Gaa>Aaa p.E33K LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.E24K|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Missense_Mutation_p.E33K NM_001206691 NP_001193620 Q33E94 RFX4_HUMAN Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA. 24 transcription, DNA-dependent nucleus DNA binding NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1) 35 ATGTCTCAACGAAAGTGAAAA 0.343000 15 8 0 0 0.004482 0 0 CENPT 80152 broad.mit.edu 37 16 67865213 67865213 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:67865213C>T uc002eun.4 - 9 1158 c.609G>A c.(607-609)caG>caA p.Q203Q CENPT_uc010vkc.2_5'UTR|CENPT_uc010vkd.1_5'UTR|CENPT_uc010vke.1_Silent_p.Q100Q NM_025082 NP_079358 Q96BT3 CENPT_HUMAN Homo sapiens centromere protein T (CENPT), mRNA. 203 mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleus DNA binding NS(1)|breast(2)|lung(6)|urinary_tract(1) 10 Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124) AGCCAGGCCTCTGCACTGACT 0.597000 22 7 0 0 0.004482 0 0 ZNF295 49854 broad.mit.edu 37 21 43411387 43411387 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:43411387G>A uc021wjo.1 - 0 2818 c.2818C>T c.(2818-2820)Cac>Tac p.H940Y ZNF295_uc002yzz.4_Missense_Mutation_p.H739Y|ZNF295_uc002zab.4_Missense_Mutation_p.H940Y|ZNF295_uc002yzy.4_Missense_Mutation_p.H940Y|ZNF295_uc002zaa.4_Missense_Mutation_p.H940Y NM_020727 NP_065778 Q9ULJ3 ZN295_HUMAN Homo sapiens zinc finger protein 295 (ZNF295), transcript variant 2, mRNA. 940 negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methyl-CpG binding|protein binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 TTGCACACGTGACAAATAAAT 0.498000 32 10 0 0 0.000673 0 0 DKC1 1736 broad.mit.edu 37 X 153995642 153995642 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:153995642C>T uc004fmm.3 + 6 835 c.625C>T c.(625-627)Cct>Tct p.P209S DKC1_uc010nvf.3_Missense_Mutation_p.P209S|SNORA36A_uc004fmn.3_5'Flank NM_001363 NP_001354 O60832 DKC1_HUMAN Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA. 209 cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase Cajal body|nucleolus|telomerase holoenzyme complex RNA binding|protein binding|pseudouridine synthase activity|telomerase activity breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1) 15 all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) TGAATACGATCCTGAAAGAAG 0.443000 Congenital Dyskeratosis 13 36 0 0 0.006999 0 0 NLRP7 199713 broad.mit.edu 37 19 55441917 55441917 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55441917C>T uc002qih.4 - 8 2836 c.2760G>A c.(2758-2760)tgG>tgA p.W920* NLRP7_uc010esk.3_Nonsense_Mutation_p.W920*|NLRP7_uc002qig.4_Nonsense_Mutation_p.W892*|NLRP7_uc002qii.4_Nonsense_Mutation_p.W920*|NLRP7_uc010esl.3_Nonsense_Mutation_p.W948* NM_206828 NP_996611 Q8WX94 NALP7_HUMAN Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA. 920 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) GACAGAGAATCCACAATCCAC 0.438000 56 27 0 0 0.007291 0 0 FAM47B 170062 broad.mit.edu 37 X 34961360 34961360 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:34961360G>A uc004ddi.2 + 0 448 c.412G>A c.(412-414)Gga>Aga p.G138R NM_152631 NP_689844 Q8NA70 FA47B_HUMAN Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA. 138 breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 CCCCAATCTGGGAAAAGATAT 0.572000 6 22 0 0 0.003954 0 0 HRNR 388697 broad.mit.edu 37 1 152193255 152193255 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:152193255C>T uc001ezt.1 - 2 926 c.850G>A c.(850-852)Ggt>Agt p.G284S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 284 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCATGCTGACCATAGCTGGAA 0.592000 105 44 0 0 0.003610 0 0 ANKRD27 84079 broad.mit.edu 37 19 33130265 33130265 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:33130265G>A uc002ntn.1 - 11 1269 c.1113C>T c.(1111-1113)ccC>ccT p.P371P ANKRD27_uc002nto.1_Silent_p.P371P NM_032139 NP_115515 Q96NW4 ANR27_HUMAN Homo sapiens ankyrin repeat domain 27 (VPS9 domain) (ANKRD27), mRNA. 371 VPS9. early endosome to late endosome transport early endosome|lysosome GTPase activator activity|guanyl-nucleotide exchange factor activity breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 42 Esophageal squamous(110;0.137) ATCTTACAGGGGGTTTAGCAG 0.507000 32 13 0 0 0.002450 0 0 PCDH10 57575 broad.mit.edu 37 4 134073473 134073473 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:134073473C>T uc003iha.3 + 0 3004 c.2178C>T c.(2176-2178)tcC>tcT p.S726S PCDH10_uc003igz.3_Silent_p.S726S NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA. 726 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GCTCGGTGTCCTTCATCTTCC 0.597000 32 12 0 0 0.002450 0 0 MS4A4E 643680 broad.mit.edu 37 11 59997464 59997465 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59997464_59997465CC>TT uc001noy.2 - 0 80_81 c.64_65GG>AA c.(64-66)gga>AAa p.G22K MS4A4E_uc001nov.2_Non-coding_Transcript|MS4A4E_uc001now.2_Non-coding_Transcript|MS4A4E_uc001nox.2_Missense_Mutation_p.G22K|MS4A4E_uc009ymw.2_Missense_Mutation_p.G22K RecName: Full=Putative membrane-spanning 4-domains subfamily A member 4E; ovary(1) 1 ATCTATGTTTCCCAGCTGGGGC 0.446000 21 7 0 0 0.004672 0 0 MARK4 57787 broad.mit.edu 37 19 45774924 45774924 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:45774924C>T uc002pbb.2 + 7 1075 c.744C>T c.(742-744)acC>acT p.T248T MARK4_uc002paz.2_Missense_Mutation_p.P59L|MARK4_uc002pba.2_Silent_p.T248T|MARK4_uc002pbc.1_Silent_p.T114T NM_001199867 NP_001186796 Q96L34 MARK4_HUMAN Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA. 248 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) TCCTGTACACCCTCGTCAGCG 0.662000 34 13 0 0 0.002450 0 0 CCNB3 85417 broad.mit.edu 37 X 50051652 50051652 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:50051652G>A uc004dox.4 + 5 781 c.483G>A c.(481-483)aaG>aaA p.K161K CCNB3_uc004doy.3_Silent_p.K161K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA. 161 cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity nucleus protein kinase binding breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Ovarian(276;0.236) TAGTTTTAAAGGAGGAACCCA 0.403000 5 23 0 0 0.003954 0 0 OR8J3 81168 broad.mit.edu 37 11 55904565 55904565 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55904565G>A uc010riz.2 - 0 630 c.630C>T c.(628-630)tcC>tcT p.S210S NM_001004064 NP_001004064 Q8NGG0 OR8J3_HUMAN Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA. 210 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) CTGTAATCATGGAAAAAACCA 0.358000 49 22 0 0 0.001882 0 0 ZNF80 7634 broad.mit.edu 37 3 113955368 113955368 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113955368C>T uc010hqo.3 - 0 1058 c.554G>A c.(553-555)gGa>gAa p.G185E ZNF80_uc003ebf.3_Non-coding_Transcript NM_007136 NP_009067 P51504 ZNF80_HUMAN Homo sapiens zinc finger protein 80 (ZNF80), mRNA. 185 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GGGCTTCTCTCCAGTGTGAAT 0.493000 64 29 0 0 0.002836 0 0 ENTPD5 957 broad.mit.edu 37 14 74433631 74433632 + Silent DNP TC CT CT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:74433631_74433632TC>CT uc010tuo.2 - 15 1597_1598 c.1286_1287GA>AG c.(1285-1287)tga>tAG p.*429* ENTPD5_uc001xpi.3_Intron NM_001249 NP_001240 O75356 ENTP5_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 5 (ENTPD5), mRNA. 0 'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade endoplasmic reticulum lumen guanosine-diphosphatase activity|uridine-diphosphatase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 10 BRCA - Breast invasive adenocarcinoma(234;0.00394) GTACGTGGCCTCAATGGGAGAT 0.505000 24 19 0 0 0.004672 0 0 FGF20 26281 broad.mit.edu 37 8 16850656 16850656 + Silent SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:16850656A>G uc003wxc.1 - 2 694 c.561T>C c.(559-561)ttT>ttC p.F187F FGF20_uc010lsw.1_3'UTR NM_019851 NP_062825 Q9NP95 FGF20_HUMAN Homo sapiens fibroblast growth factor 20 (FGF20), mRNA. 187 cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway extracellular region|soluble fraction growth factor activity haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 11 Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207) AGAAATGTGTAAATTTCTGAT 0.433000 14 19 0 0 0.006122 0 0 LRRN2 10446 broad.mit.edu 37 1 204587896 204587896 + Missense_Mutation SNP G A A rs141763834 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:204587896G>A uc021phy.1 - 0 1225 c.1225C>T c.(1225-1227)Cgt>Tgt p.R409C MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.R409C|LRRN2_uc001hbf.1_Missense_Mutation_p.R409C|LRRN2_uc009xbf.1_Missense_Mutation_p.R409C|MDM4_uc001hbc.3_Intron NM_201630 NP_963924 O75325 LRRN2_HUMAN Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA. 409 LRRCT. cell adhesion integral to membrane receptor activity p.R409C(2) central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) GGCACCTCACGGACCGGGAGG 0.657000 24 13 0 0 0.001855 0 0 FRG1B 284802 broad.mit.edu 37 20 29628283 29628283 + Silent SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:29628283G>C uc010ztl.1 + 2 227 c.195G>C c.(193-195)ggG>ggC p.G65G FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Silent_p.G17G Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA. p.G95G(4)|p.I64T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGAAGCAGGGGACATAGAAG 0.378000 34 5 0 0 0.001168 0 0 ABP1 26 broad.mit.edu 37 7 150554030 150554030 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:150554030G>C uc003why.1 + 2 4690 c.472G>C c.(472-474)Gcc>Ccc p.A158P ABP1_uc003whz.1_Missense_Mutation_p.A158P|ABP1_uc003wia.1_Missense_Mutation_p.A158P NM_001091 NP_001082 P19801 ABP1_HUMAN Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA. 158 amine metabolic process extracellular space|peroxisome copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiloride(DB00594)|Spermine(DB00127) CCTGCAGGAAGCCACCAAGCC 0.612000 28 16 0 0 0.004007 0 0 ZNF335 63925 broad.mit.edu 37 20 44594306 44594306 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:44594306G>A uc002xqw.3 - 6 1186 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W ZNF335_uc010zxk.2_Missense_Mutation_p.R200W|ZNF335_uc002xqx.1_Missense_Mutation_p.R323W NM_022095 NP_071378 Q9H4Z2 ZN335_HUMAN Homo sapiens zinc finger protein 335 (ZNF335), mRNA. 355 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Myeloproliferative disorder(115;0.0122) GGCAGCTTCCGGGGCCGGCCA 0.677000 23 19 0 0 0.007413 0 0 SLC5A2 6524 broad.mit.edu 37 16 31497553 31497553 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:31497553C>T uc002ecf.4 + 4 550 c.531C>T c.(529-531)tcC>tcT p.S177S SLC5A2_uc010car.3_Non-coding_Transcript NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 177 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 TCTATGCCTCCGTCATCGCGC 0.602000 25 20 0 0 0.002299 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923470 78923471 + Silent DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:78923470_78923471GG>AA uc002bed.1 - 3 418_419 c.306_307CC>TT c.(304-309)atcctg>atTTtg p.102_103IL>IL CHRNB4_uc002bee.1_Silent_p.102_103IL>IL|CHRNB4_uc010blh.1_5'UTR NM_000750 NP_000741 P30926 ACHB4_HUMAN Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA. 102 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 GGGATCCTCAGGATGTTCACAC 0.589000 38 13 0 0 0.004672 0 0 MAP3K4 4216 broad.mit.edu 37 6 161518132 161518132 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:161518132C>T uc003qtn.3 + 15 3590 c.3448C>T c.(3448-3450)Cgt>Tgt p.R1150C MAP3K4_uc010kkc.1_Missense_Mutation_p.R1146C|MAP3K4_uc003qto.3_Missense_Mutation_p.R1150C|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.R603C|MAP3K4_uc003qtp.3_Missense_Mutation_p.R136C NM_005922 NP_005913 Q9Y6R4 M3K4_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA. 1150 JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity perinuclear region of cytoplasm ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding p.R1150C(3) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1) 77 Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771) OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05) GAACAGCCCCCGTCCTATGAA 0.448000 13 18 0 0 0.007413 0 0 PDHA2 5161 broad.mit.edu 37 4 96762042 96762042 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:96762042C>T uc003htr.4 + 0 804 c.741C>T c.(739-741)atC>atT p.I247I NM_005390 NP_005381 P29803 ODPAT_HUMAN Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA. 247 glycolysis mitochondrial matrix pyruvate dehydrogenase (acetyl-transferring) activity NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 46 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;1.23e-06) NADH(DB00157) GCAATTTTATCCCTGGGCTAA 0.453000 34 25 0 0 0.003330 0 0 LOC646214 646214 broad.mit.edu 37 15 21937946 21937946 + RNA SNP C T T rs142424875 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:21937946C>T uc010tzj.1 - 0 c.2794G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. CTTCCTTTCTCTGTGCCTGAG 0.423000 320 52 0 0 0.003610 0 0 SCARF2 91179 broad.mit.edu 37 22 20780370 20780370 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:20780370G>A uc002zsj.2 - 10 2013 c.1908C>T c.(1906-1908)gcC>gcT p.A636A SCARF2_uc002zsk.2_Silent_p.A631A NM_153334 NP_699165 Q96GP6 SREC2_HUMAN Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA. 631 ARVARREARPARA -> PTTTWITHSTAAS (in Ref. 2; AAH00584). cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) gggccggccgggccTCGCGTC 0.766000 7 5 0 0 0.000602 0 0 DNAJA4 55466 broad.mit.edu 37 15 78567844 78567844 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:78567844G>A uc002bdi.3 + 5 907 c.738G>A c.(736-738)atG>atA p.M246I DNAJA4_uc002bdj.2_Missense_Mutation_p.M217I|DNAJA4_uc002bdk.3_Missense_Mutation_p.M190I|DNAJA4_uc002bdm.2_Missense_Mutation_p.M1I NM_018602 NP_001123654 Q8WW22 DNJA4_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA. 217 protein folding|response to heat membrane ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1) 8 TCATAGGTATGAAAGATGGGC 0.413000 20 16 0 0 0.004990 0 0 KCNG4 93107 broad.mit.edu 37 16 84270723 84270723 + Silent SNP G A A rs144555438 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:84270723G>A uc010voc.2 - 1 490 c.369C>T c.(367-369)atC>atT p.I123I KCNG4_uc002fhu.1_Silent_p.I123I NM_172347 NP_758857 Q8TDN1 KCNG4_HUMAN Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA. 123 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 31 GGAAGCTCACGATCACCCCGA 0.632000 28 8 0 0 0.006214 0 0 KDM8 79831 broad.mit.edu 37 16 27231785 27231785 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:27231785C>T uc010vcn.1 + 6 1297 c.1179C>T c.(1177-1179)caC>caT p.H393H KDM8_uc002doh.2_Silent_p.H355H|KDM8_uc010bxw.2_Intron|KDM8_uc010bxx.2_Non-coding_Transcript NM_001145348 NP_079049 Q8N371 KDM8_HUMAN Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA. 355 JmjC. G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ATGACACGCACCTTCTCCATA 0.592000 63 34 0 0 0.004289 0 0 AFP 174 broad.mit.edu 37 4 74310740 74310740 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:74310740C>T uc003hgz.1 + 6 791 c.744C>T c.(742-744)acC>acT p.T248T AFP_uc011cbg.1_Silent_p.T22T NM_001134 NP_001125 P02771 FETA_HUMAN Homo sapiens alpha-fetoprotein (AFP), mRNA. 248 Albumin 2. transport metal ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1) 22 Breast(15;0.00102) Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) AGAAGTTTACCAAAGTTAATT 0.358000 Alpha-Fetoprotein, Hereditary Persistence of 14 11 0 0 0.000978 0 0 GPR115 221393 broad.mit.edu 37 6 47682264 47682264 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:47682264C>T uc003oyz.1 + 6 1454 c.1454C>T c.(1453-1455)tCc>tTc p.S485F GPR115_uc003oza.1_Missense_Mutation_p.S428F|GPR115_uc003ozb.1_Missense_Mutation_p.S428F|RN7SK_uc021zaf.1_5'Flank NM_153838 NP_722580 Q8IZF3 GP115_HUMAN Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA. 428 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity p.L485L(1) NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 ACAGTGTGGTCCCGGGTGGTT 0.493000 28 34 0 0 0.003755 0 0 GPR149 344758 broad.mit.edu 37 3 154056017 154056017 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:154056017C>T uc003faa.3 - 3 1767 c.1667G>A c.(1666-1668)gGg>gAg p.G556E NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA. 556 integral to membrane|plasma membrane G-protein coupled receptor activity p.Q555K(1) autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AGACACAGTCCCCTGGAATGC 0.448000 61 34 0 0 0.002836 0 0 FCGBP 8857 broad.mit.edu 37 19 40424301 40424301 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:40424301C>T uc002omp.4 - 3 1910 c.1902G>A c.(1900-1902)gtG>gtA p.V634V NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA. 634 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) TTGCGAACTCCACAGCGTCAG 0.607000 80 48 0 0 0.003610 0 0 PIK3R1 5295 broad.mit.edu 37 5 67589197 67589197 + Silent SNP A T T rs149905863 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:67589197A>T uc003jva.3 + 9 1765 c.1185A>T c.(1183-1185)ccA>ccT p.P395P PIK3R1_uc003jvc.3_Silent_p.P95P|PIK3R1_uc003jvd.3_Silent_p.P125P|PIK3R1_uc003jve.3_Silent_p.P74P|PIK3R1_uc021xzn.1_Silent_p.P32P|PIK3R1_uc011crb.2_Silent_p.P65P NM_181523 NP_852664 P27986 P85A_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA. 395 SH2 1. T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.0?(1)|p.?(1) breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 178 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TCTCTGACCCATTAACCTTCA 0.318000 """Mis, F, O""" """gliobastoma, ovarian, colorectal""" TCGA GBM(4;<1E-08) 8 10 0 0 0.000673 0 0 FAM71D 161142 broad.mit.edu 37 14 67664893 67664893 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:67664893C>T uc001xja.2 + 2 305 c.15C>T c.(13-15)acC>acT p.T5T FAM71D_uc010tsv.2_Non-coding_Transcript|FAM71D_uc001xiz.3_Non-coding_Transcript|FAM71D_uc010aqn.2_Non-coding_Transcript NM_173526 NP_775797 Q8N9W8 FA71D_HUMAN Homo sapiens family with sequence similarity 71, member D (FAM71D), mRNA. 5 breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1) 13 all_hematologic(31;0.0116) all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012) AGAAGAACACCAGCAAGACTA 0.393000 20 15 0 0 0.004007 0 0 TPCN2 219931 broad.mit.edu 37 11 68854621 68854621 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:68854621C>T uc001oos.2 + 23 2243 c.2127C>T c.(2125-2127)ccC>ccT p.P709P TPCN2_uc010rqg.1_Silent_p.P527P|TPCN2_uc021qmo.1_Non-coding_Transcript NM_139075 NP_620714 Q8NHX9 TPC2_HUMAN Homo sapiens two pore segment channel 2 (TPCN2), mRNA. 709 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) ACCTGCAGCCCCTTGCTGGGA 0.637000 22 5 0 0 0.001168 0 0 SCN4A 6329 broad.mit.edu 37 17 62026854 62026854 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:62026854G>A uc002jds.1 - 14 2965 c.2888C>T c.(2887-2889)tCc>tTc p.S963F NM_000334 NP_000325 P35499 SCN4A_HUMAN Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA. 963 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) GCTGCAGACGGACGAGTTCCC 0.627000 26 9 0 0 0.004482 0 0 SLC4A5 57835 broad.mit.edu 37 2 74479337 74479337 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:74479337C>T uc002sko.1 - 10 1449 c.1447G>A c.(1447-1449)Gaa>Aaa p.E483K SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.E483K|SLC4A5_uc010ffc.1_Missense_Mutation_p.E483K|SLC4A5_uc002skp.1_Missense_Mutation_p.E419K|SLC4A5_uc002sks.1_Missense_Mutation_p.E483K NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 483 Gly-rich. apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCCCCGATTTCATGCATGGCT 0.632000 15 31 0 0 0.002836 0 0 OGT 8473 broad.mit.edu 37 X 70781708 70781708 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70781708C>T uc004eaa.2 + 14 2173 c.1935C>T c.(1933-1935)ggC>ggT p.G645G BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Silent_p.G635G|OGT_uc004eac.3_Silent_p.G506G|OGT_uc004ead.3_Silent_p.G264G NM_181672 NP_858058 O15294 OGT1_HUMAN Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA. 645 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction MLL5-L complex|cytosol enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) ATACTAAGGGCGCTCGAAATG 0.383000 7 15 0 0 0.004990 0 0 WRN 7486 broad.mit.edu 37 8 30938511 30938511 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:30938511C>T uc003xio.4 + 8 1756 c.968C>T c.(967-969)tCa>tTa p.S323L WRN_uc011lbd.1_Missense_Mutation_p.S26L|WRN_uc011lbe.1_5'Flank NM_000553 NP_000544 Q14191 WRN_HUMAN Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA. 323 DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TTTGAAGATTCAACTACTGGG 0.353000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 8 14 0 0 0.002450 0 0 HDDC2 51020 broad.mit.edu 37 6 125614016 125614016 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:125614016G>A uc003qaa.1 - 3 553 c.349C>T c.(349-351)Ctc>Ttc p.L117F HDDC2_uc003qab.1_Non-coding_Transcript NM_016063 NP_057147 Q7Z4H3 HDDC2_HUMAN Homo sapiens HD domain containing 2 (HDDC2), mRNA. 117 HD. metal ion binding|phosphoric diester hydrolase activity endometrium(1)|large_intestine(1)|lung(4) 6 LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828) GBM - Glioblastoma multiforme(226;0.0186) TCCTTTCTGAGGTCCTCTGGT 0.348000 27 39 0 0 0.002522 0 0 IGF1 3479 broad.mit.edu 37 12 102811752 102811752 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:102811752C>T uc001tjp.4 - 3 651 c.432G>A c.(430-432)acG>acA p.T144T IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Silent_p.T144T|IGF1_uc001tjo.2_Intron NM_001111285 NP_001104755 P05019 IGF1_HUMAN Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA. 144 DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 TCTGAGACTTCGTGTTCTTGT 0.463000 82 47 0 0 0.002522 0 0 CLPTM1 1209 broad.mit.edu 37 19 45494515 45494515 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:45494515C>T uc002pai.3 + 11 1493 c.1439C>T c.(1438-1440)tCc>tTc p.S480F CLPTM1_uc010xxf.2_Missense_Mutation_p.S378F|CLPTM1_uc010xxg.2_Missense_Mutation_p.S466F|CLPTM1_uc021uvo.1_5'Flank NM_001294 NP_001285 O96005 CLPT1_HUMAN Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA. 480 cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus external side of plasma membrane|integral to plasma membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187) CGGTACCTGTCCTGGATCCTC 0.647000 112 77 0 0 0.003610 0 0 MRPS31 10240 broad.mit.edu 37 13 41323282 41323282 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:41323282T>A uc001uxm.4 - 5 1025 c.950A>T c.(949-951)aAt>aTt p.N317I NM_005830 NP_005821 Q92665 RT31_HUMAN Homo sapiens mitochondrial ribosomal protein S31 (MRPS31), nuclear gene encoding mitochondrial protein, mRNA. 317 mitochondrion|ribosome protein domain specific binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 13 Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194) all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706) ACCTGCTTCATTGTTAATTGG 0.358000 48 30 0 0 0.002445 0 0 FAM135B 51059 broad.mit.edu 37 8 139144922 139144922 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:139144922C>T uc003yuy.3 - 19 4306 c.4135G>A c.(4135-4137)Ggc>Agc p.G1379S FAM135B_uc003yux.3_Missense_Mutation_p.G1280S|FAM135B_uc003yuz.3_Non-coding_Transcript NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 1379 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GCGGCTCGGCCGATCAGGGTG 0.542000 HNSCC(54;0.14) 191 61 0 0 0.003610 0 0 PPM1A 5494 broad.mit.edu 37 14 60750007 60750007 + Missense_Mutation SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:60750007G>T uc001xew.4 + 1 901 c.805G>T c.(805-807)Gcc>Tcc p.A269S PPM1A_uc010apn.3_Missense_Mutation_p.A196S|PPM1A_uc001xex.4_Missense_Mutation_p.A196S|PPM1A_uc001xey.4_Missense_Mutation_p.A196S NM_177952 NP_808821 P35813 PPM1A_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA. 196 Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) TGTATCGAGGGCCCTTGGGGA 0.458000 46 31 5.45727e-16 6.8609e-16 0.001512 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140754002 140754002 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140754002C>T uc003ljy.2 + 0 352 c.352C>T c.(352-354)Ccc>Tcc p.P118S PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.P118S NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 118 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATCTTTATCCCGTGGAAGT 0.483000 17 22 0 0 0.002299 0 0 PRMT1 3276 broad.mit.edu 37 19 50189873 50189873 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50189873C>T uc010enf.2 + 9 1051 c.922C>T c.(922-924)Ccg>Tcg p.P308S PRMT1_uc021uxu.1_Missense_Mutation_p.P284S|PRMT1_uc002ppe.3_Missense_Mutation_p.P290S|PRMT1_uc021uxv.1_Missense_Mutation_p.P222S|PRMT1_uc010ybb.2_5'Flank|C19orf76_uc002pph.2_5'Flank NM_001536 NP_001527 Q8WUW5 Q8WUW5_HUMAN Homo sapiens protein arginine methyltransferase 1 (PRMT1), transcript variant 1, mRNA. 289 cytoplasm protein methyltransferase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2) 12 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012) CCCCGAGTCCCCGTACACGCA 0.687000 16 4 0 0 0.001168 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113518910 113518910 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:113518910G>A uc010ljy.1 - 3 2268 c.2237C>T c.(2236-2238)gCt>gTt p.A746V NM_002711 NP_002702 Q16821 PPR3A_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA. 746 glycogen metabolic process integral to membrane p.S745Y(1)|p.A746A(1) NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TTTTTCTCTAGCAGACATGCT 0.433000 48 17 0 0 0.004007 0 0 F5 2153 broad.mit.edu 37 1 169555578 169555578 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:169555578G>A uc001ggg.1 - 0 192 c.47C>T c.(46-48)aCc>aTc p.T16I F5_uc010plr.1_Non-coding_Transcript NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 16 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) TACCCAGCTGGTGCCCAAGAC 0.652000 21 9 0 0 0.000978 0 0 OR4N2 390429 broad.mit.edu 37 14 20295941 20295941 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20295941G>A uc010tkv.2 + 0 334 c.334G>A c.(334-336)Gga>Aga p.G112R NM_001004723 NP_001004723 Q8NGD1 OR4N2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGGAGGGGAGGGATTACTCCT 0.512000 61 40 0 0 0.006999 0 0 STAT1 6772 broad.mit.edu 37 2 191851617 191851617 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:191851617G>A uc010fse.2 - 12 1616 c.1184C>T c.(1183-1185)tCc>tTc p.S395F STAT1_uc021vue.1_Missense_Mutation_p.S207F|STAT1_uc002usj.2_Missense_Mutation_p.S395F|STAT1_uc002usk.2_Missense_Mutation_p.S395F|STAT1_uc002usl.2_Missense_Mutation_p.S397F|STAT1_uc010fsf.1_Missense_Mutation_p.S207F NM_007315 NP_009330 P42224 STAT1_HUMAN Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA. 395 I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) GCCATTGGTGGACTCCTCCAT 0.423000 100 60 0 0 0.003610 0 0 TBXAS1 6916 broad.mit.edu 37 7 139529266 139529266 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:139529266C>T uc011kqv.2 + 0 315 c.80C>T c.(79-81)gCc>gTc p.A27V TBXAS1_uc003vvh.3_Missense_Mutation_p.A27V|TBXAS1_uc010lne.3_Intron|TBXAS1_uc011kqu.2_Missense_Mutation_p.A27V|TBXAS1_uc003vvi.3_Missense_Mutation_p.A27V|TBXAS1_uc011kqw.2_5'UTR|TBXAS1_uc003vvj.3_Missense_Mutation_p.A27V|TBXAS1_uc011kqx.1_Missense_Mutation_p.A27V NM_001166253 NP_001159725 P24557 THAS_HUMAN Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA. 26 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Melanoma(164;0.0142) GCTCTCTTGGCCCTCCTGAAA 0.587000 15 7 0 0 0.003080 0 0 BDP1 55814 broad.mit.edu 37 5 70828250 70828250 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:70828250C>T uc003kbp.1 + 25 6151 c.5888C>T c.(5887-5889)cCg>cTg p.P1963L BDP1_uc003kbo.3_Missense_Mutation_p.P1963L|BDP1_uc003kbq.1_Non-coding_Transcript|BDP1_uc003kbr.1_Non-coding_Transcript NM_018429 NP_060899 A6H8Y1 BDP1_HUMAN Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA. 1963 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50) TTGAGTGTACCGTTTGTAAGC 0.343000 13 8 0 0 0.004482 0 0 NEUROD6 63974 broad.mit.edu 37 7 31378576 31378576 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:31378576C>T uc003tch.3 - 1 660 c.307G>A c.(307-309)Gag>Aag p.E103K NEUROD6_uc022abi.1_Missense_Mutation_p.E103K NM_022728 NP_073565 Q96NK8 NDF6_HUMAN Homo sapiens neurogenic differentiation 6 (NEUROD6), mRNA. 103 cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 32 CTGTTCCTCTCGCGCGCGTTC 0.473000 108 42 0 0 0.003610 0 0 CLSTN2 64084 broad.mit.edu 37 3 140178396 140178396 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:140178396C>T uc003etn.3 + 6 1197 c.1007C>T c.(1006-1008)tCc>tTc p.S336F CLSTN2_uc003etm.2_Missense_Mutation_p.S336F NM_022131 NP_071414 Q9H4D0 CSTN2_HUMAN Homo sapiens calsyntenin 2 (CLSTN2), mRNA. 336 homophilic cell adhesion Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 87 CTCTTGCCATCCCCTAGCGCT 0.557000 HNSCC(16;0.037) 43 20 0 0 0.004656 0 0 NT5C1B-RDH14 100526794 broad.mit.edu 37 2 18765931 18765931 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:18765931C>T uc010exr.3 - 3 690 c.578G>A c.(577-579)gGg>gAg p.G193E NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.G251E|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.G191E|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.G251E|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.G234E|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.G268E|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.G253E|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.G191E|U6_uc021vej.1_5'Flank|NT5C1B-RDH14_uc002rdb.1_Missense_Mutation_p.G43E NM_001199103 NP_001186032 Q96P26 5NT1B_HUMAN Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA. 251 Pro-rich. purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding GGGGTAGATCCCCCTGCGCTG 0.667000 15 4 0 0 0.001168 0 0 TSHZ2 128553 broad.mit.edu 37 20 51870879 51870879 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:51870879G>A uc002xwo.3 + 1 1769 c.882G>A c.(880-882)atG>atA p.M294I TSHZ2_uc021wex.1_Missense_Mutation_p.M291I NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA. 294 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) GCGTCCACATGATTAAAACAA 0.438000 33 15 0 0 0.002450 0 0 TRPM4 54795 broad.mit.edu 37 19 49703939 49703939 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:49703939G>A uc002pmw.3 + 18 2958 c.2850G>A c.(2848-2850)ggG>ggA p.G950G TRPM4_uc010emu.3_Silent_p.G805G|TRPM4_uc010yak.2_Silent_p.G414G|TRPM4_uc002pmx.3_Silent_p.G776G|TRPM4_uc010emv.3_Silent_p.G835G|TRPM4_uc010yal.2_Silent_p.G596G|TRPM4_uc002pmy.3_Silent_p.G292G NM_017636 NP_060106 Q8TD43 TRPM4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA. 950 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) CCACGGAGGGGCTCCTGAGGC 0.612000 28 10 0 0 0.006214 0 0 HOXB2 3212 broad.mit.edu 37 17 46620505 46620505 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:46620505G>A uc002inm.3 - 1 1116 c.996C>T c.(994-996)agC>agT p.S332S NM_002145 NP_002136 P14652 HXB2_HUMAN Homo sapiens homeobox B2 (HOXB2), mRNA. 332 blood circulation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 11 AAGGGACCGGGCTGTCGAGAG 0.567000 83 36 0 0 0.006230 0 0 HERC2 8924 broad.mit.edu 37 15 28538093 28538093 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:28538093G>A uc001zbj.3 - 3 369 c.263C>T c.(262-264)cCt>cTt p.P88L HERC2_uc001zbl.1_5'UTR NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 88 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TATAGGTGCAGGAGTTTCTTC 0.383000 31 14 0 0 0.002450 0 0 RYR2 6262 broad.mit.edu 37 1 237777781 237777781 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237777781G>A uc001hyl.1 + 36 5473 c.5353G>A c.(5353-5355)Gac>Aac p.D1785N NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 1785 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GTTCCCACTGGACATCCTCAA 0.507000 54 33 0 0 0.002445 0 0 NSD1 64324 broad.mit.edu 37 5 176562207 176562207 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:176562207G>A uc003mfr.4 + 1 241 c.103G>A c.(103-105)Ggt>Agt p.G35S NSD1_uc003mft.4_Intron|NSD1_uc003mfs.1_Missense_Mutation_p.G35S|NSD1_uc011dfx.2_Intron|NSD1_uc003mfp.2_Missense_Mutation_p.G35S|NSD1_uc003mfq.3_Missense_Mutation_p.G35S NM_022455 NP_071900 Q96L73 NSD1_HUMAN Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA. 35 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) 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)|Epithelial(233;0.198) Kidney(146;0.235) TTTCGGTAATGGTCAATCCAA 0.443000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 24 32 0 0 0.002836 0 0 KLHL5 51088 broad.mit.edu 37 4 39083653 39083653 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:39083653G>A uc003gtr.2 + 3 1195 c.912G>A c.(910-912)caG>caA p.Q304Q KLHL5_uc003gtp.3_Silent_p.Q258Q|KLHL5_uc003gtq.3_Silent_p.Q117Q|KLHL5_uc003gts.3_Silent_p.Q304Q|KLHL5_uc003gtt.3_Silent_p.Q243Q NM_015990 NP_057074 Q96PQ7 KLHL5_HUMAN Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA. 304 cytoplasm|cytoskeleton actin binding endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 AGCTTTCACAGGTTGTAGAAG 0.383000 44 24 0 0 0.002299 0 0 MMP11 4320 broad.mit.edu 37 22 24123412 24123412 + Silent SNP C A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:24123412C>A uc002zxx.3 + 5 913 c.891C>A c.(889-891)tcC>tcA p.S297S MMP11_uc002zxy.3_Non-coding_Transcript NM_005940 NP_005931 P24347 MMP11_HUMAN Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA. 297 collagen catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1) 27 Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318) GTGAGGCCTCCTTTGACGCGG 0.637000 48 37 4.01765e-15 5.04375e-15 0.002222 1 0 PLEKHH2 130271 broad.mit.edu 37 2 43919774 43919774 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:43919774A>C uc010yny.2 + 3 391 c.308A>C c.(307-309)cAa>cCa p.Q103P PLEKHH2_uc002rte.3_Missense_Mutation_p.Q103P|PLEKHH2_uc002rtf.3_Missense_Mutation_p.Q103P NM_172069 NP_742066 Q8IVE3 PKHH2_HUMAN Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA. 103 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GACGTCATTCAAAACTTGGAA 0.338000 146 74 0 0 0.003610 0 0 SBNO2 22904 broad.mit.edu 37 19 1127741 1127741 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:1127741G>A uc002lrk.4 - 4 541 c.303C>T c.(301-303)ttC>ttT p.F101F SBNO2_uc002lrj.4_Silent_p.F44F|SBNO2_uc010dse.3_Silent_p.F94F|SBNO2_uc010dsf.3_Silent_p.F44F NM_014963 NP_055778 Q9Y2G9 SBNO2_HUMAN Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA. 101 macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 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) AGATGTTGGAGAAGTCCTCAA 0.617000 6 13 0 0 0.002450 0 0 FAM160B2 64760 broad.mit.edu 37 8 21957256 21957256 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:21957256C>T uc011kyx.2 + 9 1244 c.1193C>T c.(1192-1194)gCc>gTc p.A398V FAM160B2_uc011kyy.2_Non-coding_Transcript NM_022749 NP_073586 Q86V87 F16B2_HUMAN Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA. 398 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 CTCCTCACAGCCATGCTGCGC 0.682000 8 5 0 0 0.000602 0 0 NAV3 89795 broad.mit.edu 37 12 78360052 78360052 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:78360052G>A uc001syp.3 + 3 631 c.458G>A c.(457-459)gGg>gAg p.G153E NAV3_uc001syo.3_Missense_Mutation_p.G153E NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN Homo sapiens neuron navigator 3 (NAV3), mRNA. 153 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GCAGCCAGAGGGGTAAATGTT 0.313000 HNSCC(70;0.22) 43 20 0 0 0.002780 0 0 PLA2R1 22925 broad.mit.edu 37 2 160869867 160869867 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:160869867C>T uc002ube.2 - 9 1783 c.1571G>A c.(1570-1572)gGa>gAa p.G524E PLA2R1_uc010zcp.2_Missense_Mutation_p.G524E|PLA2R1_uc002ubf.3_Missense_Mutation_p.G524E NM_007366 NP_031392 Q13018 PLA2R_HUMAN Homo sapiens phospholipase A2 receptor 1, 180kDa (PLA2R1), transcript variant 1, mRNA. 524 C-type lectin 3. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 GTAACAGAATCCACCATGTCT 0.368000 17 10 0 0 0.000978 0 0 URM1 81605 broad.mit.edu 37 9 131151621 131151621 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:131151621C>T uc011may.1 + 3 332 c.270C>T c.(268-270)gcC>gcT p.A90A URM1_uc004buv.2_Intron NM_001135947 NP_001129419 Q9BTM9 URM1_HUMAN Homo sapiens ubiquitin related modifier 1 (URM1), transcript variant 2, mRNA. 0 tRNA thio-modification|tRNA wobble uridine modification protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1) 5 CTCCCCCAGCCCCTGCCCTTG 0.607000 34 13 0 0 0.002450 0 0 LRP5 4041 broad.mit.edu 37 11 68216526 68216527 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:68216526_68216527GG>AA uc001ont.3 + 22 4911_4912 c.4836_4837GG>AA c.(4834-4839)acggac>acAAac p.D1613N LRP5_uc009ysg.3_Missense_Mutation_p.D1023N NM_002335 NP_002326 O75197 LRP5_HUMAN Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA. 1613 Wnt receptor signaling pathway involved in dorsal/ventral axis specification|adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCCCTGCACGGACTCATCCTG 0.540000 32 11 0 0 0.004672 0 0 LPHN3 23284 broad.mit.edu 37 4 62935858 62935858 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:62935858T>C uc010ihh.3 + 22 3815 c.3642T>C c.(3640-3642)agT>agC p.S1214S LPHN3_uc003hcq.4_Missense_Mutation_p.C1232R|LPHN3_uc003hct.3_Silent_p.S598S NM_015236 NP_056051 Q9HAR2 LPHN3_HUMAN Homo sapiens latrophilin 3 (LPHN3), mRNA. 1192 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 GGGATACAAGTGTCATGGATA 0.433000 35 26 0 0 0.002096 0 0 OR5T2 219464 broad.mit.edu 37 11 55999754 55999754 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:55999754G>A uc010rjc.2 - 0 908 c.908C>T c.(907-909)tCc>tTc p.S303F NM_001004746 NP_001004746 Q8NGG2 OR5T2_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA. 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S302G(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) AGCATAGCTGGAACTTGGTCT 0.428000 52 23 0 0 0.002780 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917539 144917539 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:144917539C>T uc021ouh.1 - 11 1867 c.1565G>A c.(1564-1566)aGa>aAa p.R522K NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.R522K|PDE4DIP_uc001elx.4_Missense_Mutation_p.R588K|PDE4DIP_uc001emd.2_Missense_Mutation_p.R522K|PDE4DIP_uc001emc.2_Missense_Mutation_p.R522K|PDE4DIP_uc001emb.1_Missense_Mutation_p.R685K|PDE4DIP_uc001eme.1_Missense_Mutation_p.R51K NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 522 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATCGCGCAGTCTCTCTAAGTC 0.468000 T PDGFRB MPD 500 73 0 0 0.003610 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74834741 74834741 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:74834741C>T uc001dge.2 + 15 1727 c.1660C>T c.(1660-1662)Cct>Tct p.P554S FPGT-TNNI3K_uc001dgc.2_Missense_Mutation_p.P554S|FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.P554S|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.P453S NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 453 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding AGCTGGATTGCCTTCACATTT 0.353000 23 7 0 0 0.003080 0 0 ZFPM1 161882 broad.mit.edu 37 16 88599317 88599317 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:88599317G>A uc002fkv.3 + 8 1196 c.1163G>A c.(1162-1164)gGa>gAa p.G388E NM_153813 NP_722520 Q8IX07 FOG1_HUMAN Homo sapiens zinc finger protein, multitype 1 (ZFPM1), mRNA. 388 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|transcription factor binding|zinc ion binding central_nervous_system(1)|ovary(2)|urinary_tract(1) 4 BRCA - Breast invasive adenocarcinoma(80;0.0478) CCAGGGGCCGGACACCCAGCA 0.647000 24 11 0 0 0.001368 0 0 ZNF79 7633 broad.mit.edu 37 9 130206352 130206352 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:130206352G>A uc004bqw.4 + 4 787 c.373G>A c.(373-375)Gaa>Aaa p.E125K ZNF79_uc011maf.2_Missense_Mutation_p.E101K|ZNF79_uc011mag.2_Missense_Mutation_p.E101K NM_007135 NP_009066 Q15937 ZNF79_HUMAN Homo sapiens zinc finger protein 79 (ZNF79), mRNA. 125 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S124S(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2) 28 AGCCCTTTCTGAAGCTTCATT 0.483000 44 26 0 0 0.007291 0 0 PHLPP2 23035 broad.mit.edu 37 16 71683204 71683204 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:71683204C>T uc002fax.3 - 17 3567 c.3561G>A c.(3559-3561)gaG>gaA p.E1187E PHLPP2_uc002fav.3_Intron|PHLPP2_uc010cgf.3_Silent_p.E1120E|PHLPP2_uc021tkv.1_5'Flank NM_015020 NP_055835 Q6ZVD8 PHLP2_HUMAN Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA. 1187 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 TAGGAGAACTCTCTATGAGAG 0.532000 35 20 0 0 0.001523 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370428 38370428 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:38370428C>T uc003jlc.2 + 5 922 c.576C>T c.(574-576)atC>atT p.I192I EGFLAM_uc003jlb.2_Silent_p.I192I NM_001205301 NP_001192230 Q63HQ2 EGFLA_HUMAN Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA. 192 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GGACCTCAATCCATGAGCGGA 0.488000 8 21 0 0 0.003330 0 0 PADI3 51702 broad.mit.edu 37 1 17597630 17597630 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:17597630C>T uc001bai.3 + 8 1044 c.1004C>T c.(1003-1005)aCc>aTc p.T335I NM_016233 NP_057317 Q9ULW8 PADI3_HUMAN Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA. 335 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGCAAGCTGACCATCTGCCCA 0.632000 13 15 0 0 0.004990 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48602351 48602351 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48602351C>T uc010wmr.2 + 12 2040 c.1878C>T c.(1876-1878)acC>acT p.T626T MYCBPAP_uc002iqz.3_Non-coding_Transcript NM_032133 NP_115509 Q8TBZ2 MYBPP_HUMAN Homo sapiens MYCBP associated protein (MYCBPAP), mRNA. 589 cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CCTATCTCACCGAGGAAGACT 0.647000 62 20 0 0 0.001523 0 0 PKD1L1 168507 broad.mit.edu 37 7 47969013 47969013 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:47969013G>A uc003tny.2 - 6 882 c.848C>T c.(847-849)gCt>gTt p.A283V NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA. 283 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AGAATTTCGAGCTAGGATGGC 0.532000 43 22 0 0 0.002780 0 0 KIAA2018 205717 broad.mit.edu 37 3 113375371 113375371 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:113375371G>C uc003eam.3 - 6 5569 c.5158C>G c.(5158-5160)Cgt>Ggt p.R1720G KIAA2018_uc003eal.3_Missense_Mutation_p.R1664G NM_001009899 NP_001009899 Q68DE3 K2018_HUMAN Homo sapiens KIAA2018 (KIAA2018), mRNA. 1720 regulation of transcription, DNA-dependent membrane|nucleus DNA binding|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 TGGTCCACACGACCCTGCATA 0.423000 35 19 0 0 0.007413 0 0 IL20 50604 broad.mit.edu 37 1 207039849 207039849 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:207039849C>T uc001her.3 + 2 290 c.246C>T c.(244-246)ctC>ctT p.L82L IL20_uc009xby.3_Silent_p.L82L NM_018724 NP_061194 Q9NYY1 IL20_HUMAN Homo sapiens interleukin 20 (IL20), mRNA. 82 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding p.L82L(2) endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) GATGCTGCCTCCTGCGCCATT 0.512000 250 128 0 0 0.003610 0 0 ATP1A3 478 broad.mit.edu 37 19 42482796 42482796 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:42482796G>A uc002osh.3 - 11 1746 c.1592C>T c.(1591-1593)gCc>gTc p.A531V ATP1A3_uc010xwf.2_Missense_Mutation_p.A542V|ATP1A3_uc010xwg.2_Missense_Mutation_p.A501V|ATP1A3_uc002osg.3_Missense_Mutation_p.A531V|ATP1A3_uc010xwh.2_Missense_Mutation_p.A544V P13637 AT1A3_HUMAN Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA. 531 ATP biosynthetic process Golgi apparatus|endoplasmic reticulum ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 CTCAAGGTAGGCATTCTGGAA 0.667000 39 24 0 0 0.003330 0 0 IGSF1 3547 broad.mit.edu 37 X 130415851 130415851 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:130415851G>A uc004ewe.4 - 7 1597 c.1314C>T c.(1312-1314)acC>acT p.T438T IGSF1_uc004ewd.3_Silent_p.T438T|IGSF1_uc022cdv.1_Silent_p.T429T|IGSF1_uc004ewf.2_Silent_p.T418T NM_001170961 NP_001164432 Q8N6C5 IGSF1_HUMAN Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA. 438 Ig-like C2-type 5. regulation of transcription, DNA-dependent extracellular region|integral to membrane inhibin beta-A binding|inhibin beta-B binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2) 78 GGCACTGAAGGGTGATGGCCT 0.468000 3 7 0 0 0.001984 0 0 ZNF331 55422 broad.mit.edu 37 19 54080487 54080487 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:54080487C>T uc002qbx.1 + 6 2107 c.673C>T c.(673-675)Cgg>Tgg p.R225W ZNF331_uc002qby.1_Missense_Mutation_p.R225W|ZNF331_uc002qbz.1_Missense_Mutation_p.R225W|ZNF331_uc010eqr.1_Missense_Mutation_p.R225W|ZNF331_uc002qca.1_Missense_Mutation_p.R225W|ZNF331_uc021uzg.1_Missense_Mutation_p.R225W|ZNF331_uc021uzh.1_Missense_Mutation_p.R225W|ZNF331_uc002qcb.1_Missense_Mutation_p.R225W|ZNF331_uc002qcc.1_Missense_Mutation_p.R225W|ZNF331_uc002qcd.1_Missense_Mutation_p.R225W NM_018555 NP_061025 Q9NQX6 ZN331_HUMAN Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA. 225 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) AAAGGCCTTTCGGCGTGGTGA 0.473000 T ? follicular thyroid adenoma 37 20 0 0 0.001523 0 0 LILRA1 11024 broad.mit.edu 37 19 55107160 55107160 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:55107160G>A uc002qgh.1 + 5 900 c.718G>A c.(718-720)Gag>Aag p.E240K LILRA1_uc010yfg.1_Missense_Mutation_p.E238K|LILRA1_uc010yfh.2_Missense_Mutation_p.E240K NM_006863 NP_006854 O75019 LIRA1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA. 240 Ig-like C2-type 3. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity p.G239E(1)|p.G239W(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GGCCCCTGGGGAGAGCCTGAC 0.557000 60 23 0 0 0.004656 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 25404 25404 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrGL000209.1:25404T>G uc002qts.2 + 2 150 c.121T>G c.(121-123)Tca>Gca p.S41A KIR2DL2_uc002qtt.2_Missense_Mutation_p.S41A NM_014219 NP_055034 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 2 (KIR2DL2), mRNA. 41 regulation of immune response integral to membrane|plasma membrane receptor activity CCTGGTGAAATCAGAAGAGAC 0.488000 25 55 0 0 0.003610 0 0 GET4 51608 broad.mit.edu 37 7 927100 927100 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:927100C>T uc003sjl.1 + 3 502 c.410C>T c.(409-411)tCc>tTc p.S137F GET4_uc003sjj.1_Non-coding_Transcript NM_015949 NP_057033 Q7L5D6 GET4_HUMAN Homo sapiens golgi to ER traffic protein 4 homolog (S. cerevisiae) (GET4), mRNA. 137 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 AGTGGGGGCTCCGGGAAGCTG 0.637000 37 12 0 0 0.001368 0 0 MYBPC2 4606 broad.mit.edu 37 19 50944138 50944138 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:50944138G>A uc002psf.2 + 8 624 c.573_splice c.e8-1 p.R191_splice NM_004533 NP_004524 Q14324 MYPC2_HUMAN Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA. 191 cell adhesion|muscle filament sliding cytosol|myosin filament actin binding|structural constituent of muscle breast(1) 1 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144) ACCCGCCAGGGAGGTGGTGGA 0.572000 14 4 0 0 0.001168 0 0 HECW2 57520 broad.mit.edu 37 2 197184260 197184260 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:197184260G>A uc002utm.1 - 8 1537 c.1354C>T c.(1354-1356)Ccc>Tcc p.P452S HECW2_uc002utl.1_Missense_Mutation_p.P96S NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA. 452 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 GTGTCAGTGGGAAAACTACTC 0.507000 16 5 0 0 0.001984 0 0 ZNF233 353355 broad.mit.edu 37 19 44777201 44777201 + Silent SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44777201A>C uc021uvi.1 + 4 494 c.388A>C c.(388-390)Agg>Cgg p.R130R ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_5'UTR|ZNF233_uc002oyz.2_Silent_p.R130R NM_001207005 NP_001193934 A6NK53 ZN233_HUMAN Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA. 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) TCAAGGCAAGAGGTCCAAGTT 0.378000 26 13 0 0 0.001855 0 0 FNDC1 84624 broad.mit.edu 37 6 159653402 159653402 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:159653402C>T uc010kjv.3 + 10 2058 c.1858C>T c.(1858-1860)Cct>Tct p.P620S FNDC1_uc010kjw.1_Missense_Mutation_p.P505S NM_032532 NP_115921 Q4ZHG4 FNDC1_HUMAN Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA. 620 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) TTCGGCCTCTCCTGCCCACCA 0.672000 7 9 0 0 0.006214 0 0 PRSS48 345062 broad.mit.edu 37 4 152204438 152204439 + Splice_Site DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:152204438_152204439GG>AA uc011cif.2 + 4 651 c.651_splice c.e4+1 p.K217_splice PRSS48_uc011cig.2_Splice_Site_p.K74_splice NM_183375 NP_899231 Q7RTY5 PRS48_HUMAN Homo sapiens protease, serine, 48 (PRSS48), mRNA. 217 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 ATAGTTGCAAGGTCAGGGTTTG 0.406000 46 11 0 0 0.004672 0 0 RP1 6101 broad.mit.edu 37 8 55538107 55538107 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:55538107G>A uc003xsd.1 + 3 1813 c.1665G>A c.(1663-1665)caG>caA p.Q555Q RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 555 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TTACAAGTCAGAAGATGTTAG 0.343000 49 10 0 0 0.001368 0 0 MEPCE 56257 broad.mit.edu 37 7 100030695 100030696 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:100030695_100030696CC>TT uc003uuw.3 + 1 2213_2214 c.1825_1826CC>TT c.(1825-1827)cct>TTt p.P609F MEPCE_uc022ain.1_Missense_Mutation_p.P140F|MEPCE_uc022aio.1_Missense_Mutation_p.P140F|MEPCE_uc003uuv.3_Missense_Mutation_p.P140F NM_019606 NP_062552 Q7L2J0 MEPCE_HUMAN Homo sapiens methylphosphate capping enzyme (MEPCE), transcript variant 1, mRNA. 609 Bin3-type SAM. methyltransferase activity p.R608C(3) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCACCTACGCCCTGGGGGCATC 0.579000 36 13 0 0 0.004672 0 0 ST18 9705 broad.mit.edu 37 8 53044647 53044647 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:53044647C>T uc003xqz.2 - 16 2693 c.2537G>A c.(2536-2538)aGa>aAa p.R846K ST18_uc011ldq.1_Missense_Mutation_p.R493K|ST18_uc011ldr.1_Missense_Mutation_p.R811K|ST18_uc011lds.1_Missense_Mutation_p.R751K|ST18_uc003xra.2_Missense_Mutation_p.R846K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 846 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTCCTTCTGTCTCTTGGCAGC 0.522000 51 13 0 0 0.001368 0 0 HIVEP2 3097 broad.mit.edu 37 6 143091114 143091114 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:143091114G>A uc003qjd.3 - 4 5505 c.4762C>T c.(4762-4764)Cca>Tca p.P1588S NM_006734 NP_006725 P31629 ZEP2_HUMAN Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA. 1588 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) TCTCCTGCTGGTAATGAAGAA 0.552000 32 24 0 0 0.003954 0 0 PLEKHG2 64857 broad.mit.edu 37 19 39913434 39913434 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:39913434C>T uc010xuz.2 + 17 2065 c.1740C>T c.(1738-1740)acC>acT p.T580T PLEKHG2_uc010xuy.2_Silent_p.T521T|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.T358T NM_022835 NP_073746 Q9H7P9 PKHG2_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA. 580 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) ACAGCGAAACCCTCACATTCC 0.597000 19 10 0 0 0.000673 0 0 WDR75 84128 broad.mit.edu 37 2 190323591 190323591 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:190323591C>T uc002uql.1 + 6 742 c.682C>T c.(682-684)Cgt>Tgt p.R228C WDR75_uc002uqm.1_Missense_Mutation_p.R164C|WDR75_uc002uqn.1_Missense_Mutation_p.R6C NM_032168 NP_115544 Q8IWA0 WDR75_HUMAN Homo sapiens WD repeat domain 75 (WDR75), mRNA. 228 nucleolus breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1) 25 OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456) TGGCAAAATTCGTCTTTGGTC 0.418000 40 19 0 0 0.002299 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329680 88329680 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:88329680C>T uc001vln.3 + 1 2256 c.2037C>T c.(2035-2037)ttC>ttT p.F679F SLITRK5_uc010tic.1_Silent_p.F438F|SLITRK5_uc021rlc.1_Silent_p.F679F NM_015567 NP_056382 O94991 SLIK5_HUMAN Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA. 679 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TGTCCGTCTTCGTGGCCGCCG 0.617000 14 14 0 0 0.001855 0 0 KIR2DL2 3803 broad.mit.edu 37 GL000209.1 118759 118759 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrGL000209.1:118759G>A uc010yie.2 + 2 247 c.236G>A c.(235-237)gGg>gAg p.G79E KIR2DL2_uc021vdc.1_Intron|KIR2DL2_uc021vdd.1_Intron|KIR2DL2_uc002qty.3_Missense_Mutation_p.G76E|KIR2DL2_uc002qum.3_Missense_Mutation_p.G79E NM_014512 NP_055327 P43627 KI2L2_HUMAN Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1), mRNA. 79 Ig-like C2-type 1. regulation of immune response integral to membrane|plasma membrane receptor activity CACCATGATGGGGTCTCCAAG 0.498000 12 53 0 0 0.003610 0 0 CDH23 64072 broad.mit.edu 37 10 73553142 73553142 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:73553142C>T uc001jrx.4 + 45 6838 c.6448C>T c.(6448-6450)Cct>Tct p.P2150S CDH23_uc001jsg.4_5'Flank|CDH23_uc001jsh.4_5'Flank NM_022124 NP_071407 Q9H251 CAD23_HUMAN Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA. 2153 Cadherin 20. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GGGCACCGTTCCTCTCTCGGG 0.597000 39 17 0 0 0.006122 0 0 RYR2 6262 broad.mit.edu 37 1 237806719 237806719 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:237806719C>T uc001hyl.1 + 47 7434 c.7314C>T c.(7312-7314)atC>atT p.I2438I NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2438 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.I2436M(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TTATCAGCATCGCTTTTCAGA 0.438000 46 28 0 0 0.006320 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130217842 130217842 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:130217842G>A uc004evz.3 + 3 799 c.454G>A c.(454-456)Gga>Aga p.G152R ARHGAP36_uc004ewa.3_Missense_Mutation_p.G140R|ARHGAP36_uc004ewb.3_Missense_Mutation_p.G121R|ARHGAP36_uc004ewc.3_Missense_Mutation_p.G16R NM_144967 NP_659404 Q6ZRI8 RHG36_HUMAN Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA. 152 Arg-rich. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 CCGTCGTCGGGGAAACGTGGT 0.632000 10 24 0 0 0.002299 0 0 C1orf129 80133 broad.mit.edu 37 1 170955851 170955851 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:170955851G>A uc010plz.2 + 10 1033 c.879_splice c.e10+1 p.M293_splice C1orf129_uc001ghg.3_Splice_Site_p.M293_splice|C1orf129_uc009wvy.3_Splice_Site_p.M100_splice NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 293 binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGGTCACCATGGTAAGATACT 0.393000 31 16 0 0 0.007413 0 0 SCML4 256380 broad.mit.edu 37 6 108042121 108042121 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:108042121G>A uc010kdf.3 - 5 1010 c.759C>T c.(757-759)tcC>tcT p.S253S SCML4_uc003prz.4_Silent_p.S195S|SCML4_uc011eam.1_Silent_p.S253S|SCML4_uc003pry.4_Silent_p.S11S|SCML4_uc003psa.3_Silent_p.S224S NM_198081 NP_932347 Q8N228 SCML4_HUMAN Homo sapiens sex comb on midleg-like 4 (Drosophila) (SCML4), mRNA. 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1) 25 all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316) BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758) GGTTAAAGGTGGAGGCGGAGG 0.587000 10 19 0 0 0.001882 0 0 SP140L 93349 broad.mit.edu 37 2 231254709 231254709 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:231254709G>C uc010fxm.1 + 10 1026 c.935G>C c.(934-936)gGa>gCa p.G312A SP140L_uc010fxo.1_Intron NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 312 SAND. nucleus DNA binding|metal ion binding p.G312G(1) central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GGGGTGAAGGGAATTTTACAT 0.398000 27 10 0 0 0.001855 0 0 WDR4 10785 broad.mit.edu 37 21 44282451 44282451 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:44282451G>A uc002zci.3 - 4 580 c.507C>T c.(505-507)atC>atT p.I169I WDR4_uc002zck.1_Silent_p.I169I|WDR4_uc002zcl.1_Silent_p.I23I|WDR4_uc010gpg.1_Silent_p.I169I|WDR4_uc011aew.1_Silent_p.I23I|WDR4_uc010gph.1_Silent_p.I23I NM_033661 NP_387510 P57081 WDR4_HUMAN Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA. 169 tRNA modification cytoplasm|nucleoplasm protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2) 11 Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244) AGCTGACTCGGATCTTCTCGT 0.602000 8 8 0 0 0.004482 0 0 ZNF536 9745 broad.mit.edu 37 19 31039620 31039620 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:31039620G>A uc002nsu.1 + 3 3232 c.3094G>A c.(3094-3096)Gat>Aat p.D1032N ZNF536_uc010edd.1_Missense_Mutation_p.D1032N NM_014717 NP_055532 O15090 ZN536_HUMAN Homo sapiens zinc finger protein 536 (ZNF536), mRNA. 1032 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) GAAACGCAAAGATAACACCAT 0.552000 17 21 0 0 0.001216 0 0 DNAH3 55567 broad.mit.edu 37 16 21031009 21031009 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:21031009C>T uc010vbe.2 - 40 5959 c.5959G>A c.(5959-5961)Gat>Aat p.D1987N NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 1987 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGTTATCATCCATGCCCATG 0.423000 41 19 0 0 0.001216 0 0 LRP2 4036 broad.mit.edu 37 2 170011104 170011105 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:170011104_170011105GG>AA uc002ues.3 - 65 12373_12374 c.12160_12161CC>TT c.(12160-12162)cct>TTt p.P4054F NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4054 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) TAGCAACAAAGGAGAGCTACCT 0.366000 23 10 0 0 0.004672 0 0 HDAC9 9734 broad.mit.edu 37 7 18688097 18688097 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:18688097C>T uc003sui.3 + 9 1299 c.1258C>T c.(1258-1260)Ccc>Tcc p.P420S HDAC9_uc003sue.3_Missense_Mutation_p.P417S|HDAC9_uc011jyd.2_Missense_Mutation_p.P417S|HDAC9_uc003suh.3_Missense_Mutation_p.P417S|HDAC9_uc003suj.3_Missense_Mutation_p.P376S|HDAC9_uc011jya.2_Missense_Mutation_p.P415S|HDAC9_uc003sua.1_Missense_Mutation_p.P395S|HDAC9_uc003sud.2_Missense_Mutation_p.P417S|HDAC9_uc011jyc.2_Missense_Mutation_p.P376S|HDAC9_uc011jyb.2_Missense_Mutation_p.P373S|HDAC9_uc003suf.2_Missense_Mutation_p.P448S|HDAC9_uc010kud.2_Missense_Mutation_p.P420S|HDAC9_uc011jye.2_Missense_Mutation_p.P389S|HDAC9_uc011jyf.2_Missense_Mutation_p.P340S|HDAC9_uc010kue.1_Missense_Mutation_p.P160S NM_178425 NP_848512 Q9UKV0 HDAC9_HUMAN Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA. 417 B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 82 all_lung(11;0.187) Valproic Acid(DB00313) AGGTGGAGTTCCCTTACATCC 0.428000 27 14 0 0 0.003163 0 0 SLC5A7 60482 broad.mit.edu 37 2 108626916 108626916 + Missense_Mutation SNP A C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:108626916A>C uc002tdv.3 + 8 1618 c.1342A>C c.(1342-1344)Act>Cct p.T448P SLC5A7_uc010ywm.2_Missense_Mutation_p.T201P|SLC5A7_uc010fjj.3_Missense_Mutation_p.T448P|SLC5A7_uc010ywn.2_Missense_Mutation_p.T335P NM_021815 NP_068587 Q9GZV3 SC5A7_HUMAN Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA. 448 acetylcholine biosynthetic process|neurotransmitter secretion integral to membrane|plasma membrane choline:sodium symporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Choline(DB00122) CCTGAGAATAACTGGAGGGGA 0.438000 31 26 0 0 0.007291 0 0 DENND4B 9909 broad.mit.edu 37 1 153906042 153906042 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:153906042G>A uc001fdd.1 - 19 3648 c.3247C>T c.(3247-3249)Cct>Tct p.P1083S NM_014856 NP_055671 O75064 DEN4B_HUMAN Homo sapiens DENN/MADD domain containing 4B (DENND4B), mRNA. 1083 NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCAGGTCAGGAGGCAGCTCA 0.711000 21 6 0 0 0.001984 0 0 NRAS 4893 broad.mit.edu 37 1 115258747 115258747 + Missense_Mutation SNP C G G rs121913237 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:115258747C>G uc009wgu.3 - 1 289 c.35G>C c.(34-36)gGt>gCt p.G12A NM_002524 NP_002515 P01111 RASN_HUMAN Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA. 12 G -> C (in leukemia). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway Golgi membrane|plasma membrane GTP binding|GTPase activity p.G12D(754)|p.G12S(135)|p.G12V(119)|p.G12C(84)|p.G12A(84)|p.G12R(18)|p.G12N(4)|p.G12G(4)|p.A11T(3)|p.G12E(2)|p.G12P(2)|p.G12Y(2)|p.G12T(1)|p.G12?(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CCCAACACCACCTGCTCCAAC 0.493000 G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 58 45 0 0 0.003610 0 0 LGALS12 85329 broad.mit.edu 37 11 63273993 63273993 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:63273993C>T uc001nxc.2 + 0 470 c.129C>T c.(127-129)ttC>ttT p.F43F LGALS12_uc001nxa.2_Silent_p.F43F|LGALS12_uc001nxb.2_Silent_p.F43F|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank NM_001142535 NP_001136007 Q96DT0 LEG12_HUMAN Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA. 43 apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CACCAGTCTTCCACCCGGTGA 0.552000 70 27 0 0 0.003755 0 0 RCC2 55920 broad.mit.edu 37 1 17752038 17752038 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:17752038C>T uc001bal.3 - 3 572 c.523_splice c.e3+1 p.G175_splice RCC2_uc001bam.3_Splice_Site_p.G175_splice NM_001136204 NP_061185 Q9P258 RCC2_HUMAN Homo sapiens regulator of chromosome condensation 2 (RCC2), transcript variant 2, mRNA. 175 cell division|mitotic prometaphase chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4) 17 Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19) GGTACTCACCCCAGCTCCACA 0.627000 4 4 0 0 0.000602 0 0 GK2 2712 broad.mit.edu 37 4 80329289 80329289 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:80329289G>A uc003hlu.3 - 0 84 c.66C>T c.(64-66)tcC>tcT p.S22S NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 22 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GAAAGCGAGTGGAGTTGGTGC 0.532000 15 9 0 0 0.006214 0 0 SLC10A5 347051 broad.mit.edu 37 8 82606445 82606445 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:82606445A>G uc011lfs.2 - 0 763 c.763T>C c.(763-765)Tat>Cat p.Y255H NM_001010893 NP_001010893 Q5PT55 NTCP5_HUMAN Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA. 255 integral to membrane bile acid:sodium symporter activity p.S254Y(1) autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5) 15 CTGTATATATAAGAATTGACA 0.373000 13 41 0 0 0.002222 0 0 C11orf30 56946 broad.mit.edu 37 11 76256911 76256911 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76256911C>T uc001oxl.3 + 19 3487 c.3344C>T c.(3343-3345)aCa>aTa p.T1115I C11orf30_uc001oxm.3_Missense_Mutation_p.T1017I|C11orf30_uc010rsb.2_Missense_Mutation_p.T1130I|C11orf30_uc010rsc.2_Missense_Mutation_p.T1116I|C11orf30_uc001oxn.3_Missense_Mutation_p.T1116I|C11orf30_uc010rsd.2_Missense_Mutation_p.T1024I|C11orf30_uc010rse.2_Missense_Mutation_p.T362I|C11orf30_uc001oxp.3_Intron NM_020193 NP_064578 Q7Z589 EMSY_HUMAN Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA. 1115 DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CAGCCTCCCACAGTTACAAAG 0.463000 31 11 0 0 0.001368 0 0 DDX27 55661 broad.mit.edu 37 20 47852896 47852896 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:47852896C>T uc002xuh.3 + 13 1690 c.1629C>T c.(1627-1629)acC>acT p.T543T NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA. 543 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) TGCCTAATACCATCAAACATT 0.532000 84 25 0 0 0.005443 0 0 IGSF10 285313 broad.mit.edu 37 3 151165454 151165454 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:151165454C>T uc011bod.2 - 3 2315 c.2315G>A c.(2314-2316)cGa>cAa p.R772Q NM_178822 NP_849144 Q6WRI0 IGS10_HUMAN Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA. 772 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GGTATTTTCTCGCTTGTCTGG 0.507000 30 17 0 0 0.004007 0 0 GATA1 2623 broad.mit.edu 37 X 48650336 48650336 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:48650336G>A uc004dkq.4 + 2 397 c.306G>A c.(304-306)ggG>ggA p.G102G NM_002049 NP_002040 P15976 GATA1_HUMAN Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA. 102 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.V77_A120>A(2)|p.?(2)|p.V74_C199del(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1) 283 GCAAGACGGGGCTCTACCCTG 0.607000 """Mis, F""" megakaryoblastic leukemia of Downs Syndrome 4 14 0 0 0.001855 0 0 COL27A1 85301 broad.mit.edu 37 9 116999285 116999285 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:116999285C>T uc011lxl.2 + 17 2644 c.2644C>T c.(2644-2646)Ccc>Tcc p.P882S COL27A1_uc004bii.3_Non-coding_Transcript NM_032888 NP_116277 Q8IZC6 CORA1_HUMAN Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA. 882 Collagen-like 5.|Pro-rich.|Triple-helical region. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCCAGGGTTCCCCGGTGCACG 0.617000 19 8 0 0 0.006214 0 0 GNAS 2778 broad.mit.edu 37 20 57428970 57428970 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:57428970G>A uc002xzw.3 + 0 935 c.650G>A c.(649-651)aGc>aAc p.S217N GNAS_uc021wfl.1_Intron|GNAS_uc002xzt.3_Intron|GNAS_uc010gjq.3_Intron|GNAS_uc002xzv.3_Non-coding_Transcript NM_080425 NP_001070958 P63092 GNAS2_HUMAN Homo sapiens GNAS complex locus (GNAS), transcript variant 2, mRNA. 0 G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) GGAGGCTACAGCCCTCCCCCT 0.642000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 5 3 0 0 0.004672 0 0 MAP3K9 4293 broad.mit.edu 37 14 71199520 71199520 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:71199520C>T uc001xmm.3 - 10 2566 c.2566G>A c.(2566-2568)Gaa>Aaa p.E856K MAP3K9_uc010ttk.2_Missense_Mutation_p.E584K|MAP3K9_uc001xmk.3_Missense_Mutation_p.E589K|MAP3K9_uc001xml.3_Missense_Mutation_p.E870K NM_033141 NP_149132 P80192 M3K9_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA. 856 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) ACGACAATTTCATCGCTGTCG 0.602000 9 13 0 0 0.001855 0 0 AGRN 375790 broad.mit.edu 37 1 980598 980599 + Nonsense_Mutation DNP AC GA GA rs145920099 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:980598_980599AC>GA uc001ack.2 + 12 2362_2363 c.2312_2313AC>GA c.(2311-2313)tac>tGA p.Y771* NM_198576 NP_940978 O00468 AGRIN_HUMAN Homo sapiens agrin (AGRN), mRNA. 771 axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) CAGACGCCCTACGGCTGCTGCC 0.688000 11 5 0 0 0.004672 0 0 NR4A3 8013 broad.mit.edu 37 9 102590451 102590451 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:102590451G>A uc022bky.1 + 3 928 c.160G>A c.(160-162)Ggc>Agc p.G54S NR4A3_uc004bae.3_Missense_Mutation_p.G43S|NR4A3_uc004baf.1_Missense_Mutation_p.G43S NM_173200 NP_008912 Q92570 NR4A3_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA. 43 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2) Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189) CATGGACCTTGGCAGCACTGA 0.577000 T EWSR1 extraskeletal myxoid chondrosarcoma 29 19 0 0 0.006122 0 0 NOX1 27035 broad.mit.edu 37 X 100105197 100105197 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:100105197C>T uc004egj.3 - 8 1282 c.1076G>A c.(1075-1077)gGg>gAg p.G359E NOX1_uc004egl.4_Missense_Mutation_p.G359E|NOX1_uc010nne.3_Missense_Mutation_p.G322E NM_007052 NP_008983 Q9Y5S8 NOX1_HUMAN Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA. 359 FAD-binding FR-type. FADH2 metabolic process|angiogenesis|cell migration|electron transport chain|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation NADPH oxidase complex|cell junction|early endosome|invadopodium membrane Rac GTPase binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 TGTCCAGTCCCCTGCTGCTCG 0.473000 4 20 0 0 0.003330 0 0 IPO13 9670 broad.mit.edu 37 1 44422550 44422550 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:44422550C>T uc001ckx.3 + 4 1968 c.1173C>T c.(1171-1173)ttC>ttT p.F391F NM_014652 NP_055467 O94829 IPO13_HUMAN Homo sapiens importin 13 (IPO13), mRNA. 391 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) CAGTCTACTTCCAGCTGGTGG 0.507000 33 21 0 0 0.001216 0 0 SH2B1 25970 broad.mit.edu 37 16 28880699 28880699 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:28880699C>T uc002dri.3 + 6 1743 c.1304C>T c.(1303-1305)tCg>tTg p.S435L NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Missense_Mutation_p.S125L|SH2B1_uc002drj.3_Missense_Mutation_p.S435L|SH2B1_uc002drk.3_Missense_Mutation_p.S435L|SH2B1_uc002drl.3_Missense_Mutation_p.S435L|SH2B1_uc010vdd.2_Missense_Mutation_p.S99L|SH2B1_uc010vde.2_Missense_Mutation_p.S435L|SH2B1_uc002drm.3_Missense_Mutation_p.S435L NM_001145795 NP_001139267 Q9NRF2 SH2B1_HUMAN Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA. 435 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 GACCGCCTGTCGCAGGGTAAG 0.642000 14 14 0 0 0.004990 0 0 SLC25A13 10165 broad.mit.edu 37 7 95820540 95820540 + Missense_Mutation SNP G A A rs137944390 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:95820540G>A uc003uog.4 - 6 826 c.635C>T c.(634-636)tCc>tTc p.S212F SLC25A13_uc003uof.4_Missense_Mutation_p.S212F|SLC25A13_uc011kik.2_Missense_Mutation_p.S104F NM_001160210 NP_001153682 Q9UJS0 CMC2_HUMAN Homo sapiens solute carrier family 25, member 13 (citrin) (SLC25A13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 212 ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to plasma membrane|mitochondrial inner membrane L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|calcium ion binding breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4) 42 all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07) STAD - Stomach adenocarcinoma(171;0.194) L-Aspartic Acid(DB00128) AACTTGATGGGATGTGGTACC 0.343000 47 24 0 0 0.003330 0 0 PSD4 23550 broad.mit.edu 37 2 113950646 113950646 + Silent SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:113950646G>T uc002tjc.3 + 6 2043 c.1860G>T c.(1858-1860)gtG>gtT p.V620V PSD4_uc002tjd.3_Silent_p.V241V|PSD4_uc002tje.3_Silent_p.V591V|PSD4_uc002tjf.3_Silent_p.V241V NM_012455 NP_036587 Q8NDX1 PSD4_HUMAN Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA. 620 SEC7. regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GCAGGGCTGTGGCTGAGGAGT 0.627000 27 7 0.000157383 0.00019533 0.003080 1 0 RGS3 5998 broad.mit.edu 37 9 116224415 116224415 + Nonsense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:116224415A>T uc004bhq.3 + 3 558 c.349A>T c.(349-351)Aga>Tga p.R117* RGS3_uc004bhr.3_5'Flank|RGS3_uc004bhs.3_5'Flank NM_144488 NP_652759 P49796 RGS3_HUMAN Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA. 117 inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway cytosol|nucleus|plasma membrane GTPase activator activity|signal transducer activity cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 48 TCTGCCCAGAAGAGATGAGTG 0.547000 39 34 0 0 0.003271 0 0 LCP2 3937 broad.mit.edu 37 5 169693889 169693889 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:169693889G>A uc003man.1 - 9 902 c.695C>T c.(694-696)gCt>gTt p.A232V LCP2_uc011des.1_Missense_Mutation_p.A27V|LCP2_uc011det.1_Missense_Mutation_p.A61V|LCP2_uc010jjo.1_Missense_Mutation_p.A39V NM_005565 NP_005556 Q13094 LCP2_HUMAN Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA. 232 T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway cytosol protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 23 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) OV - Ovarian serous cystadenocarcinoma(192;0.247) TATTGAAGGAGCAGGGACTGG 0.507000 36 37 0 0 0.006230 0 0 HEPACAM 220296 broad.mit.edu 37 11 124794925 124794925 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:124794925C>T uc001qbk.3 - 1 532 c.126G>A c.(124-126)ctG>ctA p.L42L HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.L42L NM_152722 NP_689935 Q14CZ8 HECAM_HUMAN Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA. 42 Ig-like V-type. cell adhesion|cell cycle arrest|regulation of growth cytoplasm|integral to membrane p.R41C(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_hematologic(175;0.215) Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308) TGCCATGGATCAGGCGCACGG 0.617000 9 11 0 0 0.000978 0 0 ZNF804A 91752 broad.mit.edu 37 2 185803578 185803578 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:185803578G>A uc002uph.3 + 3 4049 c.3455G>A c.(3454-3456)gGa>gAa p.G1152E NM_194250 NP_919226 Q7Z570 Z804A_HUMAN Homo sapiens zinc finger protein 804A (ZNF804A), mRNA. 1152 G -> R (in dbSNP:rs12105159). intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 GGACCAGTAGGACCGAGGCTT 0.507000 62 30 0 0 0.002096 0 0 TTLL4 9654 broad.mit.edu 37 2 219602993 219602993 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:219602993C>T uc002viy.3 + 2 964 c.594C>T c.(592-594)gcC>gcT p.A198A TTLL4_uc010zkl.1_Silent_p.A33A|TTLL4_uc010fvx.3_Silent_p.A198A NM_014640 NP_055455 Q14679 TTLL4_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA. 198 protein polyglutamylation cilium|microtubule basal body ATP binding|tubulin binding|tubulin-tyrosine ligase activity endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 39 Renal(207;0.0915) Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101) AGAGCCTGGCCTCTGCCATCT 0.547000 64 22 0 0 0.001882 0 0 RNF10 9921 broad.mit.edu 37 12 121009075 121009075 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:121009075C>T uc001typ.4 + 13 2606 c.2123C>T c.(2122-2124)cCc>cTc p.P708L RNF10_uc010szk.2_Intron|RNF10_uc001tyq.4_Missense_Mutation_p.P619L NM_014868 NP_055683 Q8N5U6 RNF10_HUMAN Homo sapiens ring finger protein 10 (RNF10), mRNA. 708 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GAAGACTCTCCCTTCCCTTCC 0.527000 44 12 0 0 0.001368 0 0 ZC3H4 23211 broad.mit.edu 37 19 47597674 47597674 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47597674G>A uc002pga.4 - 2 391 c.353C>T c.(352-354)tCg>tTg p.S118L ZC3H4_uc002pgb.1_Non-coding_Transcript NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 118 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CCTCTTCTTCGACCTCCTTTT 0.557000 166 84 0 0 0.003610 0 0 VARS 7407 broad.mit.edu 37 6 31747242 31747242 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:31747242G>A uc003nxe.3 - 27 3783 c.3360C>T c.(3358-3360)tcC>tcT p.S1120S VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Silent_p.S57S NM_006295 NP_006286 P26640 SYVC_HUMAN Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA. 1120 translational elongation|valyl-tRNA aminoacylation cytosol ATP binding|protein binding|valine-tRNA ligase activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 30 L-Valine(DB00161) CGGCCCGCAGGGAGCGCACGG 0.692000 38 54 0 0 0.003610 0 0 ZWILCH 55055 broad.mit.edu 37 15 66811271 66811271 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:66811271G>A uc002aqb.3 + 4 621 c.375G>A c.(373-375)aaG>aaA p.K125K RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Silent_p.K11K|ZWILCH_uc002aqa.3_Silent_p.K11K|ZWILCH_uc010bhv.3_Silent_p.K11K NM_017975 NP_060445 Q9H900 ZWILC_HUMAN Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA. 125 cell division|mitotic cell cycle checkpoint|mitotic prometaphase condensed chromosome kinetochore|cytosol protein binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1) 18 CCCATTTGAAGATTAATCTGC 0.398000 26 8 0 0 0.003080 0 0 LEPREL1 55214 broad.mit.edu 37 3 189712072 189712072 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:189712072C>T uc011bsk.2 - 3 1022 c.634_splice c.e3-1 p.E212_splice LEPREL1_uc003fsg.3_Splice_Site_p.E31_splice NM_018192 NP_001127890 Q8IVL5 P3H2_HUMAN Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA. 212 collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation Golgi apparatus|basement membrane|endoplasmic reticulum L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5) 41 all_cancers(143;4.01e-10)|Ovarian(172;0.0925) Lung(62;4.35e-05) GBM - Glioblastoma multiforme(93;0.02) L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126) TTGTAACTCTCCTGTAATGAA 0.358000 20 4 0 0 0.000602 0 0 ZNF148 7707 broad.mit.edu 37 3 124952458 124952458 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124952458G>A uc003ehx.4 - 8 1598 c.1112C>T c.(1111-1113)tCg>tTg p.S371L SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.S371L|ZNF148_uc010hsa.3_Missense_Mutation_p.S371L|ZNF148_uc003eia.4_Missense_Mutation_p.S371L|ZNF148_uc003ehy.3_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN Homo sapiens zinc finger protein 148 (ZNF148), mRNA. 371 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 CCCAACTGACGAATGTGGCAT 0.363000 33 26 0 0 0.004656 0 0 GPR148 344561 broad.mit.edu 37 2 131487345 131487345 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:131487345G>A uc002trv.2 + 0 703 c.621G>A c.(619-621)atG>atA p.M207I NM_207364 NP_997247 Q8TDV2 GP148_HUMAN Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA. 207 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1) 27 Colorectal(110;0.1) CACCAAGCATGGGCACCCAGC 0.552000 58 24 0 0 0.003954 0 0 SYT9 143425 broad.mit.edu 37 11 7439308 7439308 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:7439308C>T uc001mfe.3 + 4 1523 c.1286C>T c.(1285-1287)cCc>cTc p.P429L SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript NM_175733 NP_783860 Q86SS6 SYT9_HUMAN Homo sapiens synaptotagmin IX (SYT9), mRNA. 429 C2 2. cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.P429P(1) NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) GATGTCCCTCCCGAGAACATT 0.478000 25 18 0 0 0.002299 0 0 SLC24A6 80024 broad.mit.edu 37 12 113744325 113744325 + Silent SNP G A A rs142106014 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:113744325G>A uc001tvc.3 - 13 1677 c.1467C>T c.(1465-1467)tcC>tcT p.S489S SLC24A6_uc001tuz.3_Silent_p.S194S|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.S227S NM_024959 NP_079235 Q6J4K2 NCKX6_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA. 489 response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CAAAGCAGGCGGAGAACGCCA 0.607000 12 8 0 0 0.004482 0 0 CX3CL1 6376 broad.mit.edu 37 16 57416935 57416935 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:57416935G>A uc002eli.3 + 2 1252 c.1185G>A c.(1183-1185)gtG>gtA p.V395V NM_002996 NP_002987 P78423 X3CL1_HUMAN Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA. 395 cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response cell surface|extracellular space|integral to membrane|plasma membrane chemokine activity breast(1)|endometrium(1)|large_intestine(1)|lung(2) 5 ATGTCCTGGTGCCCGTGTGAA 0.592000 76 31 0 0 0.004878 0 0 ZC3H4 23211 broad.mit.edu 37 19 47570287 47570288 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:47570287_47570288GG>AA uc002pga.4 - 14 3275_3276 c.3237_3238CC>TT c.(3235-3240)gaccct>gaTTct p.P1080S ZC3H4_uc002pgb.1_Non-coding_Transcript NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN Homo sapiens zinc finger CCCH-type containing 4 (ZC3H4), mRNA. 1080 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) TGCAGCCGAGGGTCGGTGGGGG 0.703000 14 9 0 0 0.004672 0 0 ECM2 1842 broad.mit.edu 37 9 95285032 95285032 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:95285032C>T uc011lty.2 - 1 304 c.117G>A c.(115-117)agG>agA p.R39R CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Silent_p.R39R|ECM2_uc004asg.3_Silent_p.R39R|ECM2_uc011ltz.1_Silent_p.R39R|ECM2_uc004asi.3_Silent_p.R39R NM_001393 NP_001384 O94769 ECM2_HUMAN Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA. 39 cell-matrix adhesion integrin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 TTGAACTTTTCCTCAACCTTC 0.363000 50 37 0 0 0.006999 0 0 HAPLN3 145864 broad.mit.edu 37 15 89422478 89422478 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:89422478G>A uc002bnd.3 - 4 783 c.702C>T c.(700-702)tcC>tcT p.S234S HAPLN3_uc002bnc.3_Silent_p.S172S|HAPLN3_uc002bne.3_Non-coding_Transcript NM_178232 NP_839946 Q96S86 HPLN3_HUMAN Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA. 172 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) GCCCGTTGGGGGACTGGTAAG 0.652000 OREG0023445 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 13 0 0 0.006122 0 0 NEK10 152110 broad.mit.edu 37 3 27326370 27326370 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:27326370G>A uc003cdt.2 - 21 2146 c.1872C>T c.(1870-1872)caC>caT p.H624H NEK10_uc003cds.1_Silent_p.H21H NM_199347 NP_955379 Q6ZWH5 NEK10_HUMAN Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA. 624 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CAGTAAAATGGTGATGTTTTT 0.323000 12 20 0 0 0.001523 0 0 LAMA2 3908 broad.mit.edu 37 6 129802525 129802525 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:129802525C>T uc021zfb.1 + 54 7795 c.7690C>T c.(7690-7692)Ctt>Ttt p.L2564F LAMA2_uc003qbn.3_Missense_Mutation_p.L2562F|LAMA2_uc003qbo.3_Missense_Mutation_p.L2558F|BC035400_uc003qbq.3_Non-coding_Transcript NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 2564 Laminin G-like 3. L -> P (in MDC1A). cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CGGCATCATTCTTTTGGGAAG 0.488000 18 31 0 0 0.001512 0 0 RYR1 6261 broad.mit.edu 37 19 38990623 38990623 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:38990623C>T uc002oit.3 + 44 7420 c.7290C>T c.(7288-7290)atC>atT p.I2430I RYR1_uc002oiu.3_Silent_p.I2430I|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 2430 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) CCGCCTTGATCGACCTGCTCG 0.612000 20 11 0 0 0.001855 0 0 POU6F2 11281 broad.mit.edu 37 7 39446295 39446295 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:39446295C>T uc003thb.2 + 6 1125 c.982C>T c.(982-984)Ctt>Ttt p.L328F POU6F2_uc022acb.1_Missense_Mutation_p.L328F NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 328 Gln-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 CCTCTCCAGTCTTCAGGGGGT 0.517000 26 16 0 0 0.003163 0 0 CNTN6 27255 broad.mit.edu 37 3 1363427 1363427 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:1363427G>A uc003boz.3 + 7 1122 c.855G>A c.(853-855)ccG>ccA p.P285P CNTN6_uc011asj.2_Silent_p.P213P|CNTN6_uc003bpa.3_Silent_p.P285P NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN Homo sapiens contactin 6 (CNTN6), mRNA. 285 Ig-like C2-type 3. Notch signaling pathway|axon guidance|cell adhesion|central nervous system development anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TTGAAATCCCGAACTTCCAAC 0.453000 32 32 0 0 0.003271 0 0 CCNDBP1 23582 broad.mit.edu 37 15 43478431 43478432 + Splice_Site DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43478431_43478432GG>AA uc001zqv.3 + 3 480 c.249_splice c.e3+1 p.Q83_splice CCNDBP1_uc021sjs.1_Splice_Site|CCNDBP1_uc010udl.2_Splice_Site|CCNDBP1_uc021sjt.1_Intron|CCNDBP1_uc021sju.1_Splice_Site|CCNDBP1_uc010bdb.3_Intron|CCNDBP1_uc001zqy.3_Splice_Site NM_012142 NP_036274 O95273 CCDB1_HUMAN Homo sapiens cyclin D-type binding-protein 1 (CCNDBP1), transcript variant 1, mRNA. 83 Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1. cell cycle cytoplasm|nucleus protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1) 13 all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.42e-07) CGTCTCCACAGGTGGGCTTCAC 0.530000 5 6 0 0 0.004672 0 0 DARS 1615 broad.mit.edu 37 2 136691503 136691503 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:136691503G>A uc002tux.1 - 5 665 c.481C>T c.(481-483)Cgg>Tgg p.R161W DARS_uc010fnj.1_Missense_Mutation_p.R61W NM_001349 NP_001340 P14868 SYDC_HUMAN Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA. 161 aspartyl-tRNA aminoacylation|protein complex assembly cytosol|nuclear membrane|plasma membrane|soluble fraction ATP binding|aminoacylase activity|aspartate-tRNA ligase activity|nucleic acid binding|protein binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2) 15 BRCA - Breast invasive adenocarcinoma(221;0.168) L-Aspartic Acid(DB00128) GCCTCAGGCCGAACAGCATCA 0.388000 26 9 0 0 0.000978 0 0 GCN1L1 10985 broad.mit.edu 37 12 120602154 120602154 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:120602154G>C uc001txo.3 - 17 1847 c.1834C>G c.(1834-1836)Ctc>Gtc p.L612V NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 612 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TGAGAACTGAGGACAGTCTTC 0.592000 36 21 0 0 0.002780 0 0 MAEA 10296 broad.mit.edu 37 4 1332318 1332318 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:1332318C>T uc003gda.3 + 7 1038 c.1008C>T c.(1006-1008)tcC>tcT p.S336S MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.S295S|MAEA_uc011bvb.2_Silent_p.S268S|MAEA_uc003gdc.3_Silent_p.S268S|MAEA_uc011bvc.2_Silent_p.S335S|MAEA_uc011bvd.2_Silent_p.S288S|MAEA_uc010ibt.3_Silent_p.S109S NM_001017405 NP_001017405 Q7L5Y9 MAEA_HUMAN Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA. 336 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) GTGCCAACTCCCGCCTGGTCT 0.622000 15 6 0 0 0.001168 0 0 SRCAP 10847 broad.mit.edu 37 16 30740727 30740727 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:30740727C>T uc002dze.1 + 26 6346 c.5961C>T c.(5959-5961)ccC>ccT p.P1987P SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.P1782P NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA. 1987 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGGCACCTCCCCCTTCCCTGC 0.587000 17 17 0 0 0.004007 0 0 CES1 1066 broad.mit.edu 37 16 55857493 55857493 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:55857493G>A uc002eim.3 - 3 613 c.505C>T c.(505-507)Caa>Taa p.Q169* CES1_uc002eil.3_Nonsense_Mutation_p.Q170*|CES1_uc002ein.3_Nonsense_Mutation_p.Q169* NM_001025194 NP_001020365 P23141 EST1_HUMAN Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA. 169 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity p.Q170*(1) all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) AGGCGATATTGAATGGTCACC 0.572000 60 9 0 0 0.001368 0 0 CAMSAP2 23271 broad.mit.edu 37 1 200817237 200817237 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:200817237G>A uc001gvl.3 + 11 1643 c.1373G>A c.(1372-1374)gGa>gAa p.G458E CAMSAP2_uc001gvk.3_Missense_Mutation_p.G447E|CAMSAP2_uc001gvm.3_Missense_Mutation_p.G431E NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA. 458 cytoplasm|microtubule protein binding CCAAACCGAGGAATCACTCGT 0.333000 43 19 0 0 0.006122 0 0 TMEM59L 25789 broad.mit.edu 37 19 18729300 18729300 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:18729300C>T uc002njy.4 + 6 985 c.898C>T c.(898-900)Cag>Tag p.Q300* NM_012109 NP_036241 Q9UK28 TM59L_HUMAN Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA. 300 Golgi membrane|integral to membrane|membrane fraction breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2) 13 CCTCAAGTTCCAGGTGGGTGG 0.642000 3 3 0 0 0.004672 0 0 ZNF844 284391 broad.mit.edu 37 19 12187067 12187067 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:12187067C>T uc002mtb.2 + 3 1275 c.1132C>T c.(1132-1134)Cgt>Tgt p.R378C ZNF844_uc010dym.1_Missense_Mutation_p.R221C NM_001136501 NP_001129973 Q08AG5 ZN844_HUMAN Homo sapiens zinc finger protein 844 (ZNF844), mRNA. 378 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1) 10 TCTCCCAGTTCGTTTTGAAGA 0.373000 4 3 0 0 0.004672 0 0 ULK4 54986 broad.mit.edu 37 3 41959954 41959954 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:41959954G>C uc003ckv.4 - 6 923 c.722C>G c.(721-723)cCg>cGg p.P241R ULK4_uc003ckw.2_Missense_Mutation_p.P241R|ULK4_uc003ckx.1_Missense_Mutation_p.P241R NM_017886 NP_060356 Q96C45 ULK4_HUMAN Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA. 241 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1) 22 KIRC - Kidney renal clear cell carcinoma(284;0.214) CTTACCTTTCGGAATAGGTGG 0.318000 50 18 0 0 0.001523 0 0 PLEC 5339 broad.mit.edu 37 8 144994766 144994766 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:144994766G>A uc003zaf.1 - 31 9804 c.9634C>T c.(9634-9636)Cgg>Tgg p.R3212W PLEC_uc003zab.1_Missense_Mutation_p.R3075W|PLEC_uc003zac.1_Missense_Mutation_p.R3079W|PLEC_uc003zad.2_Missense_Mutation_p.R3075W|PLEC_uc003zae.1_Missense_Mutation_p.R3043W|PLEC_uc003zag.1_Missense_Mutation_p.R3053W|PLEC_uc003zah.2_Missense_Mutation_p.R3061W|PLEC_uc003zaj.2_Missense_Mutation_p.R3102W NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 3212 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGTCAGCCGGGCGCTGGTG 0.657000 35 6 0 0 0.001984 0 0 C15orf39 56905 broad.mit.edu 37 15 75500451 75500451 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:75500451C>T uc002azp.4 + 1 2382 c.2062C>T c.(2062-2064)Ccc>Tcc p.P688S C15orf39_uc002azq.4_Missense_Mutation_p.P688S|C15orf39_uc021sqm.1_Missense_Mutation_p.P447S|C15orf39_uc002azr.4_Missense_Mutation_p.P86S NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 688 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CACATCTGGGCCCATTGGACT 0.667000 24 6 0 0 0.003080 0 0 NIN 51199 broad.mit.edu 37 14 51224663 51224663 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:51224663G>A uc001wyi.3 - 17 3276 c.3085C>T c.(3085-3087)Ctc>Ttc p.L1029F NIN_uc001wyj.3_Intron|NIN_uc001wym.2_Missense_Mutation_p.L1029F|NIN_uc001wyk.3_Intron|NIN_uc001wyo.3_Missense_Mutation_p.L1029F NM_020921 NP_065972 Q8N4C6 NIN_HUMAN Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA. 1029 centrosome localization centrosome|microtubule GTP binding|calcium ion binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) AGCATTGAGAGAGGAGATGTT 0.517000 T PDGFRB MPD 61 89 0 0 0.003610 0 0 GPR35 2859 broad.mit.edu 37 2 241569905 241569905 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:241569905G>A uc010fzi.2 + 5 1501 c.629G>A c.(628-630)gGa>gAa p.G210E GPR35_uc010fzh.2_Missense_Mutation_p.G210E|GPR35_uc021vze.1_Missense_Mutation_p.G179E|GPR35_uc002vzs.2_Missense_Mutation_p.G179E NM_001195381 NP_001182310 Q9HC97 GPR35_HUMAN Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA. 179 integral to plasma membrane G-protein coupled receptor activity NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 17 all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238) Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031) CCGCTGCTGGGATTCTACCTG 0.667000 29 12 0 0 0.001855 0 0 ABCA10 10349 broad.mit.edu 37 17 67212047 67212047 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:67212047C>T uc010dfa.1 - 8 1646 c.767G>A c.(766-768)gGa>gAa p.G256E ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Missense_Mutation_p.G148E NM_080282 NP_525021 Q8WWZ4 ABCAA_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA. 256 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) CACAGTGAATCCCAGACATCC 0.423000 57 20 0 0 0.001523 0 0 ADAM28 10863 broad.mit.edu 37 8 24209551 24209551 + Missense_Mutation SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:24209551C>G uc003xdy.3 + 20 2313 c.2230C>G c.(2230-2232)Ccc>Gcc p.P744A ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.P431A NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 744 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) AGGCAATGAGCCCCCAGCCTC 0.403000 18 24 0 0 0.007291 0 0 FAM76A 199870 broad.mit.edu 37 1 28071294 28071294 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:28071294C>T uc001bor.3 + 5 688 c.586C>T c.(586-588)Cgc>Tgc p.R196C FAM76A_uc009vtb.3_Missense_Mutation_p.R162C|FAM76A_uc001boq.3_Missense_Mutation_p.R162C|FAM76A_uc001bos.3_Missense_Mutation_p.R196C|FAM76A_uc001bot.3_Missense_Mutation_p.R162C|FAM76A_uc010ofm.2_Missense_Mutation_p.R111C NM_001143912 NP_001137384 Q8TAV0 FA76A_HUMAN Homo sapiens family with sequence similarity 76, member A (FAM76A), transcript variant 1, mRNA. 162 endometrium(4)|kidney(2)|large_intestine(1)|lung(2) 9 Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649) GCAGTATAGTCGCCTGAGTGG 0.488000 30 13 0 0 0.003163 0 0 KCNA2 3737 broad.mit.edu 37 1 111147292 111147292 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:111147292T>C uc021oro.1 - 0 113 c.113A>G c.(112-114)aAc>aGc p.N38S KCNA2_uc009wfv.2_Missense_Mutation_p.N38S|KCNA2_uc009wfw.3_Missense_Mutation_p.N38S NM_004974 NP_004965 P16389 KCNA2_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA. 38 juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191) CCCTGAGATGTTGATCACCAC 0.582000 68 103 0 0 0.003610 0 0 AMIGO1 57463 broad.mit.edu 37 1 110050284 110050284 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:110050284G>A uc021org.1 - 0 1251 c.1251C>T c.(1249-1251)tcC>tcT p.S417S AMIGO1_uc001dxx.4_Silent_p.S417S NM_020703 NP_065754 Q86WK6 AMGO1_HUMAN Homo sapiens adhesion molecule with Ig-like domain 1 (AMIGO1), mRNA. 417 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) TACTAAGCATGGAAGAGCTGA 0.572000 20 13 0 0 0.001368 0 0 ERC2 26059 broad.mit.edu 37 3 56330398 56330398 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:56330398G>A uc021wzo.1 - 1 863 c.723C>T c.(721-723)ctC>ctT p.L241L ERC2_uc003dhr.1_Silent_p.L241L NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 241 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) CTTGCTGGAGGAGGTGGTTGA 0.567000 39 21 0 0 0.001523 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77401410 77401410 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:77401410A>T uc002ffc.4 - 3 1125 c.706T>A c.(706-708)Tct>Act p.S236T ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript NM_199355 NP_955387 Q8TE60 ATS18_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA. 236 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGACTCTGAGATGCATGGGGA 0.483000 61 18 0 0 0.001216 0 0 FANCA 2175 broad.mit.edu 37 16 89815171 89815171 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:89815171G>A uc002fou.1 - 32 3286 c.3244C>T c.(3244-3246)Ctc>Ttc p.L1082F FANCA_uc010vpn.1_Missense_Mutation_p.L1082F|FANCA_uc010vpo.2_Missense_Mutation_p.L168F NM_000135 NP_000126 O15360 FANCA_HUMAN Homo sapiens Fanconi anemia, complementation group A (FANCA), transcript variant 1, mRNA. 1082 L -> P (in FA). DNA repair|protein complex assembly cytoplasm|nucleoplasm protein binding breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3) 47 Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.028) AGGCGGAGGAGGATCCTGGAA 0.582000 """D, Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 22 7 0 0 0.004482 0 0 RASD2 23551 broad.mit.edu 37 22 35947680 35947680 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:35947680C>T uc003anx.3 + 2 607 c.402C>T c.(400-402)ccC>ccT p.P134P RASD2_uc003any.3_Silent_p.P134P NM_014310 NP_055125 Q96D21 RHES_HUMAN Homo sapiens RASD family, member 2 (RASD2), mRNA. 134 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 CGGAGCTGCCCATGGTCATCT 0.622000 18 9 0 0 0.000673 0 0 LCA5 167691 broad.mit.edu 37 6 80223457 80223458 + Splice_Site DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:80223457_80223458GG>AA uc003piy.3 - 4 803 c.191_splice c.e4-1 p.A64_splice LCA5_uc003pix.3_Splice_Site_p.A64_splice|LCA5_uc011dyr.2_Splice_Site_p.A64_splice NM_181714 NP_859065 Q86VQ0 LCA5_HUMAN Homo sapiens Leber congenital amaurosis 5 (LCA5), transcript variant 1, mRNA. 64 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) GTTTCCGAGGGGCTAAAAAAGA 0.436000 46 52 0 0 0.004672 0 0 SRRM2 23524 broad.mit.edu 37 16 2811958 2811958 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:2811958C>T uc002crk.3 + 10 1978 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S SRRM2_uc002crj.1_Missense_Mutation_p.P381S|SRRM2_uc002crl.1_Missense_Mutation_p.P477S|SRRM2_uc010bsu.1_Missense_Mutation_p.P381S NM_016333 NP_057417 Q9UQ35 SRRM2_HUMAN Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA. 477 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 TTCTCATACCCCCTCCCGTAG 0.562000 44 11 0 0 0.000978 0 0 TDRKH 11022 broad.mit.edu 37 1 151747916 151747916 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:151747916C>T uc009wnb.1 - 9 1568 c.1386G>A c.(1384-1386)ggG>ggA p.G462G TDRKH_uc001eyy.2_Silent_p.G238G|TDRKH_uc001ezb.4_Silent_p.G458G|TDRKH_uc001ezc.4_Silent_p.G417G|TDRKH_uc001eza.4_Silent_p.G462G|TDRKH_uc001ezd.4_Silent_p.G462G|TDRKH_uc010pdn.1_Silent_p.G238G NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 462 RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AAGTTGAGATCCCAGTCTGGA 0.443000 54 21 0 0 0.002780 0 0 AMOT 154796 broad.mit.edu 37 X 112024185 112024185 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:112024185T>A uc004epr.3 - 8 2420 c.2402A>T c.(2401-2403)cAc>cTc p.H801L AMOT_uc004eps.3_Missense_Mutation_p.H392L|AMOT_uc011mtc.1_Missense_Mutation_p.H41L|MIR4329_uc022ccu.1_5'Flank NM_001113490 NP_573572 Q4VCS5 AMOT_HUMAN Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA. 801 actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction angiostatin binding|protein binding|receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 43 GGTGGATGAGTGGGAGAGCAA 0.537000 16 43 0 0 0.002222 0 0 STAG3 10734 broad.mit.edu 37 7 99799849 99799849 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:99799849G>A uc003utx.1 + 23 2604 c.2449G>A c.(2449-2451)Ggg>Agg p.G817R STAG3_uc011kjk.1_Missense_Mutation_p.G759R|GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc003uua.4_3'UTR|STAG3_uc003uub.1_Missense_Mutation_p.G41R NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN Homo sapiens stromal antigen 3 (STAG3), mRNA. 817 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GATGATTGTTGGGGGCCGTGA 0.468000 68 37 0 0 0.006999 0 0 LSM14A 26065 broad.mit.edu 37 19 34687573 34687573 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:34687573C>T uc002nvb.4 + 2 516 c.320C>T c.(319-321)tCc>tTc p.S107F LSM14A_uc002nva.4_Missense_Mutation_p.S107F|LSM14A_uc010xru.2_Missense_Mutation_p.S107F NM_001114093 NP_001107565 Q8ND56 LS14A_HUMAN Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA. 107 cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1) 22 Esophageal squamous(110;0.162) TCATTCCAGTCCATGGGTTCT 0.433000 83 37 0 0 0.006230 0 0 MMP9 4318 broad.mit.edu 37 20 44639787 44639787 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:44639787C>T uc002xqz.3 + 4 674 c.655C>T c.(655-657)Cca>Tca p.P219S NM_004994 NP_004985 P14780 MMP9_HUMAN Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA. 219 collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis extracellular space|proteinaceous extracellular matrix collagen binding|metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 46 Myeloproliferative disorder(115;0.0122) Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641) TGCAGTGGTTCCAACTCGGTT 0.632000 127 69 0 0 0.003610 0 0 MUC16 94025 broad.mit.edu 37 19 9086891 9086891 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9086891C>T uc002mkp.3 - 0 5128 c.4924G>A c.(4924-4926)Gga>Aga p.G1642R NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 1642 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 AGGGTGACTCCACTACTACTG 0.507000 68 27 0 0 0.004656 0 0 MOV10L1 54456 broad.mit.edu 37 22 50537966 50537966 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50537966C>T uc003bjj.3 + 2 460 c.377C>T c.(376-378)tCc>tTc p.S126F MOV10L1_uc003bjk.4_Missense_Mutation_p.S126F|MOV10L1_uc011arp.2_Missense_Mutation_p.S106F|MOV10L1_uc010han.3_Missense_Mutation_p.S106F NM_018995 NP_061868 Q9BXT6 M10L1_HUMAN Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA. 126 germ cell development|multicellular organismal development|spermatogenesis ATP binding|ATP-dependent RNA helicase activity|RNA binding|magnesium ion binding breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3) 67 all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114) LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24) TGTGTGACTTCCCTGGTGGAG 0.532000 28 17 0 0 0.007413 0 0 RRP9 9136 broad.mit.edu 37 3 51969227 51969227 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:51969227G>A uc003dbw.1 - 10 1059 c.1020C>T c.(1018-1020)tcC>tcT p.S340S NM_004704 NP_004695 O43818 U3IP2_HUMAN Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA. 340 rRNA processing nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex RNA binding breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1) 21 BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724) CGTCCGCGCCGGACACCATGT 0.632000 37 16 0 0 0.007413 0 0 ZNF676 163223 broad.mit.edu 37 19 22363473 22363473 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:22363473G>A uc002nqs.1 - 2 1364 c.1046C>T c.(1045-1047)tCc>tTc p.S349F NM_001001411 NP_001001411 Q8N7Q3 ZN676_HUMAN Homo sapiens zinc finger protein 676 (ZNF676), mRNA. 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 67 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114) AAGGATTGAGGATCGATTAAA 0.403000 17 10 0 0 0.000673 0 0 TDRKH 11022 broad.mit.edu 37 1 151748675 151748675 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:151748675G>A uc009wnb.1 - 7 1296 c.1114C>T c.(1114-1116)Cga>Tga p.R372* TDRKH_uc001eyy.2_Nonsense_Mutation_p.R148*|TDRKH_uc001ezb.4_Nonsense_Mutation_p.R368*|TDRKH_uc001ezc.4_Nonsense_Mutation_p.R327*|TDRKH_uc001eza.4_Nonsense_Mutation_p.R372*|TDRKH_uc001ezd.4_Nonsense_Mutation_p.R372*|TDRKH_uc010pdn.1_Nonsense_Mutation_p.R148* NM_006862 NP_006853 Q9Y2W6 TDRKH_HUMAN Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA. 372 Tudor. RNA binding breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) ACCCGGGCTCGATACCAGGAA 0.507000 41 23 0 0 0.003954 0 0 MYL10 93408 broad.mit.edu 37 7 101256766 101256766 + Missense_Mutation SNP C T T rs147592822 by1000genomes TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:101256766C>T uc003uyr.3 - 7 848 c.670G>A c.(670-672)Gag>Aag p.E224K NM_138403 NP_612412 Q9BUA6 MYL10_HUMAN Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA. 224 EF-hand 3. mitochondrion calcium ion binding breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 12 TAATCCTTCTCTTCACCGTGA 0.537000 51 14 0 0 0.003163 0 0 LRRC27 80313 broad.mit.edu 37 10 134188633 134188633 + Missense_Mutation SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:134188633C>G uc010quw.1 + 10 1675 c.1480C>G c.(1480-1482)Cga>Gga p.R494G LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Missense_Mutation_p.R494G|LRRC27_uc001llj.2_Missense_Mutation_p.R432G NM_030626 NP_085129 Q9C0I9 LRC27_HUMAN Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA. 494 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1) 18 all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19) OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218) CAAAGATCGTCGACGGGCGGC 0.468000 25 10 0 0 0.000673 0 0 MAP2K3 5606 broad.mit.edu 37 17 21207854 21207854 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:21207854C>T uc002gys.3 + 7 950 c.685C>T c.(685-687)Ccc>Tcc p.P229S MAP2K3_uc002gyt.3_Missense_Mutation_p.P200S|MAP2K3_uc021tsq.1_Missense_Mutation_p.P200S|MAP2K3_uc021tsr.1_Missense_Mutation_p.P200S NM_145109 NP_002747 P46734 MP2K3_HUMAN Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA. 229 Protein kinase. MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|innate immune response|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553) CGGCTGCAAGCCCTACATGGC 0.607000 16 4 0 0 0.000248 0 0 USH2A 7399 broad.mit.edu 37 1 215914744 215914744 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:215914744C>T uc001hku.1 - 59 12071 c.11684G>A c.(11683-11685)gGa>gAa p.G3895E NM_206933 NP_996816 O75445 USH2A_HUMAN Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA. 3895 Fibronectin type-III 24. G -> E (in USH2A). maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GATGATGATTCCATTTGGTTT 0.398000 HNSCC(13;0.011) 55 33 0 0 0.003755 0 0 JKAMP 51528 broad.mit.edu 37 14 59951795 59951796 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:59951795_59951796GG>AA uc001xei.4 + 0 509_510 c.7_8GG>AA c.(7-9)gga>AAa p.G3K C14orf149_uc001xee.1_5'Flank|C14orf149_uc010trx.1_5'Flank|JKAMP_uc001xef.4_Intron|JKAMP_uc001xeh.4_Intron|JKAMP_uc001xeg.4_Missense_Mutation_p.G3K|JKAMP_uc010try.2_Intron|JKAMP_uc001xej.4_5'Flank NM_001098625 NP_001092095 Q9P055 JKAMP_HUMAN Homo sapiens JNK1/MAPK8-associated membrane protein (JKAMP), transcript variant 2, mRNA. 0 ER-associated protein catabolic process|response to unfolded protein endoplasmic reticulum membrane|integral to membrane ubiquitin protein ligase binding breast(1)|endometrium(1)|kidney(1)|lung(3) 6 GGAAATGAAAGGAGAAATTCAA 0.411000 52 34 0 0 0.004672 0 0 LOC649330 649330 broad.mit.edu 37 1 12908051 12908051 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:12908051G>A uc010obf.2 - 1 318 c.92C>T c.(91-93)tCg>tTg p.S31L LOC649330_uc009vno.2_Missense_Mutation_p.S31L NM_001013631 NP_001013653 B7ZW38 B7ZW38_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA. 31 nucleic acid binding|nucleotide binding CTCCACATCCGATTTCTTGAC 0.463000 63 6 0 0 0.001984 0 0 TAF1 6872 broad.mit.edu 37 X 70683687 70683687 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:70683687G>A uc004dzu.4 + 37 5461 c.5410G>A c.(5410-5412)Gag>Aag p.E1804K BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.E1825K|TAF1_uc004dzv.4_Missense_Mutation_p.E1012K|TAF1_uc010nle.1_Intron|TAF1_uc010nlf.1_Intron|TAF1_uc004dzx.2_Intron|TAF1_uc004dzy.2_Intron|TAF1_uc004dzw.1_Intron|TAF1_uc010nlg.1_Intron NM_138923 NP_620278 P21675 TAF1_HUMAN Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA. 1804 Asp/Glu-rich (acidic tail).|Protein kinase 2. G1 phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|TBP-class protein binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|transcription coactivator activity breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) TGGGAGCTATGAGGAGCCTGA 0.512000 1 13 0 0 0.002450 0 0 PRDM16 63976 broad.mit.edu 37 1 3334519 3334520 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:3334519_3334520CC>TT uc001akf.3 + 10 2901_2902 c.2819_2820CC>TT c.(2818-2820)tcc>tTT p.S940F PRDM16_uc001ake.3_Missense_Mutation_p.S940F|PRDM16_uc009vlh.3_Missense_Mutation_p.S640F|PRDM16_uc001akc.3_Missense_Mutation_p.S939F NM_022114 NP_071397 Q9HAZ2 PRD16_HUMAN Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA. 940 Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCAACGCTCTCCGACCCCATCC 0.663000 T EVI1 """MDS, AML""" 15 9 0 0 0.004672 0 0 OR4M2 390538 broad.mit.edu 37 15 22369004 22369004 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:22369004C>T uc010tzu.2 + 0 527 c.429C>T c.(427-429)atC>atT p.I143I abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron NM_001004719 NP_001004719 Q8NGB6 OR4M2_HUMAN Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA. 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTGCTGTATCCTGGTGGCTC 0.507000 136 42 0 0 0.002222 0 0 GOLPH3L 55204 broad.mit.edu 37 1 150620962 150620962 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:150620962G>A uc001evj.2 - 4 910 c.693C>T c.(691-693)tcC>tcT p.S231S GOLPH3L_uc010pci.1_Silent_p.S187S NM_018178 NP_060648 Q9H4A5 GLP3L_HUMAN Homo sapiens golgi phosphoprotein 3-like (GOLPH3L), mRNA. 231 Golgi cisterna membrane breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1) 8 all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;1.2e-23)|all cancers(9;4.81e-23)|OV - Ovarian serous cystadenocarcinoma(6;1.93e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) GCACATCAGAGGAGTGGGCTA 0.478000 56 28 0 0 0.002836 0 0 POU6F2 11281 broad.mit.edu 37 7 39379484 39379484 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:39379484A>G uc003thb.2 + 5 898 c.755A>G c.(754-756)cAa>cGa p.Q252R POU6F2_uc022acb.1_Missense_Mutation_p.Q252R|POU6F2_uc010kxo.3_Missense_Mutation_p.Q244R NM_007252 NP_009183 P78424 PO6F2_HUMAN Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA. 252 Gln-rich.|Pro-rich. central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 42 cagcagcaccaaccccactcc 0.657000 11 6 0 0 0.001984 0 0 MYO3A 53904 broad.mit.edu 37 10 26482238 26482238 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:26482238C>T uc001isn.2 + 31 4903 c.4543C>T c.(4543-4545)Cat>Tat p.H1515Y MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 1515 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TTATCTACTTCATGTAAGTGG 0.443000 8 5 0 0 0.000602 0 0 NDST2 8509 broad.mit.edu 37 10 75567398 75567398 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75567398G>A uc001jvk.2 - 2 1553 c.749C>T c.(748-750)cCc>cTc p.P250L NDST2_uc010qks.1_5'Flank|NDST2_uc010qkt.1_Missense_Mutation_p.P127L|NDST2_uc009xro.2_5'Flank|NDST2_uc010qku.1_Missense_Mutation_p.P127L NM_003635 NP_003626 P52849 NDST2_HUMAN Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA. 250 Heparan sulfate N-deacetylase 2. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Prostate(51;0.0112) TGGCACTGCGGGCTCAGCTGG 0.582000 19 13 0 0 0.001368 0 0 FAM75D1 389763 broad.mit.edu 37 9 84606346 84606346 + Silent SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:84606346T>C uc004amn.3 + 3 1008 c.961T>C c.(961-963)Ttg>Ctg p.L321L NM_001001670 NP_001001670 Q6ZQQ2 F75D1_HUMAN Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA. 321 integral to membrane cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 88 TCTCACCATCTTGAAGACTTT 0.478000 111 41 0 0 0.006999 0 0 MYH10 4628 broad.mit.edu 37 17 8455375 8455375 + Missense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:8455375T>A uc002glm.3 - 8 1004 c.908A>T c.(907-909)gAa>gTa p.E303V MYH10_uc002gll.3_Missense_Mutation_p.E293V|MYH10_uc010cnx.3_Missense_Mutation_p.E302V|MYH10_uc010cny.1_Non-coding_Transcript NM_005964 NP_005955 P35580 MYH10_HUMAN Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA. 293 Myosin head-like. actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 CTTTAGGTGTTCTCCTGCTCC 0.328000 6 18 0 0 0.002299 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981885 61981885 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:61981885G>A uc002yes.2 - 4 1056 c.878C>T c.(877-879)aCc>aTc p.T293I CHRNA4_uc002yet.1_Missense_Mutation_p.T117I|CHRNA4_uc010gke.1_Missense_Mutation_p.T222I|CHRNA4_uc002yev.1_Missense_Mutation_p.T117I|CHRNA4_uc010gkf.1_Missense_Mutation_p.T117I NM_000744 NP_000735 P43681 ACHA4_HUMAN Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA. 293 B cell activation|DNA repair|behavioral response to nicotine|calcium ion transport|cognition|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GATGATCTCGGTGATGAGCAG 0.582000 26 17 0 0 0.004007 0 0 PPP1R15B 84919 broad.mit.edu 37 1 204378971 204378972 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:204378971_204378972GG>AA uc001hav.4 - 0 1973_1974 c.1568_1569CC>TT c.(1567-1569)tcc>tTT p.S523F NM_032833 NP_116222 Q5SWA1 PR15B_HUMAN Homo sapiens protein phosphatase 1, regulatory subunit 15B (PPP1R15B), mRNA. 523 regulation of translation breast(3)|cervix(1)|kidney(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(2)|skin(1)|urinary_tract(3) 34 all_cancers(21;0.0032)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.179)|all_epithelial(62;0.193)|Prostate(682;0.227) all cancers(3;1.14e-29)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.139) CAGACTGGGAGGAATTCTCTAG 0.475000 24 13 0 0 0.004672 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140249597 140249597 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140249597C>T uc003lia.2 + 0 1767 c.909C>T c.(907-909)gtC>gtT p.V303V PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.V303V NM_018902 NP_061725 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA. 319 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGTGAGGGTCAATGGAACTT 0.393000 8 11 0 0 0.000978 0 0 SPRY1 10252 broad.mit.edu 37 4 124323681 124323681 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:124323681C>T uc003ifa.3 + 1 1122 c.935C>T c.(934-936)tCc>tTc p.S312F SPRY1_uc003ifb.3_Missense_Mutation_p.S312F|SPRY1_uc021xro.1_Missense_Mutation_p.S312F NM_199327 NP_955359 O43609 SPY1_HUMAN Homo sapiens sprouty homolog 1, antagonist of FGF signaling (Drosophila) (SPRY1), transcript variant 2, mRNA. 312 epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytosol|lamellipodium|plasma membrane NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3) 11 AGCTGCCCCTCCCGGGGTCAG 0.468000 50 28 0 0 0.002096 0 0 SORCS3 22986 broad.mit.edu 37 10 106971008 106971008 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:106971008G>A uc001kyi.1 + 17 2602 c.2375_splice c.e17+1 p.G792_splice SORCS3_uc010qqz.1_Splice_Site NM_014978 NP_055793 Q9UPU3 SORC3_HUMAN Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA. 792 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) AACAGCACTGGGTAAGTAAAA 0.463000 7 5 0 0 0.000602 0 0 PPWD1 23398 broad.mit.edu 37 5 64878967 64878967 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:64878967G>A uc003jtv.4 + 7 1460 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K PPWD1_uc011cqv.2_Missense_Mutation_p.E455K|PPWD1_uc011cqw.2_Missense_Mutation_p.E329K NM_015342 NP_056157 Q96BP3 PPWD1_HUMAN Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA. 485 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity p.A484G(1) breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) TACTCAAGCTGAAGGACCTAA 0.403000 24 26 0 0 0.003954 0 0 NF1 4763 broad.mit.edu 37 17 29559101 29559101 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:29559101C>T uc002hgg.3 + 24 3591 c.3208C>T c.(3208-3210)Cag>Tag p.Q1070* NF1_uc002hgh.3_Nonsense_Mutation_p.Q1070*|NF1_uc010csn.2_Nonsense_Mutation_p.Q930*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q103* NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 1070 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) AGATTTGGACCAGGCAAGCAT 0.373000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 9 7 0 0 0.001984 0 0 SALL4 57167 broad.mit.edu 37 20 50407835 50407835 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:50407835G>A uc002xwh.4 - 1 1288 c.1187C>T c.(1186-1188)tCc>tTc p.S396F SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA. 396 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 GATCTGCAAGGAGCTATCAGT 0.547000 31 15 0 0 0.004007 0 0 PPFIA2 8499 broad.mit.edu 37 12 81769697 81769697 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:81769697C>T uc001szo.2 - 9 1170 c.1009G>A c.(1009-1011)Gaa>Aaa p.E337K PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.E263K|PPFIA2_uc021rbh.1_Missense_Mutation_p.E238K|PPFIA2_uc021rbi.1_Missense_Mutation_p.E337K|PPFIA2_uc021rbj.1_Missense_Mutation_p.E337K|PPFIA2_uc021rbk.1_Missense_Mutation_p.E319K|PPFIA2_uc021rbl.1_Missense_Mutation_p.E337K|PPFIA2_uc010sue.2_Missense_Mutation_p.E237K NM_003625 NP_003616 B7Z663 B7Z663_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA. 263 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 ATTCTTTCTTCCATATCTTCC 0.313000 36 15 0 0 0.004990 0 0 MYO1H 283446 broad.mit.edu 37 12 109862586 109862586 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:109862586G>A uc010sxn.1 + 15 1630 c.1630G>A c.(1630-1632)Gaa>Aaa p.E544K NM_001101421 NP_001094891 B4DNW6 B4DNW6_HUMAN Homo sapiens myosin IH (MYO1H), mRNA. 0 myosin complex motor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 47 TATCCTGAGGGAATGCTTCCT 0.502000 23 9 0 0 0.000978 0 0 TRPM3 80036 broad.mit.edu 37 9 73152011 73152011 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:73152011G>A uc004aid.3 - 24 4226 c.3982C>T c.(3982-3984)Cca>Tca p.P1328S TRPM3_uc004ahu.3_Missense_Mutation_p.P1170S|TRPM3_uc004ahv.3_Missense_Mutation_p.P1130S|TRPM3_uc004ahw.3_Missense_Mutation_p.P1200S|TRPM3_uc004ahx.3_Missense_Mutation_p.P1187S|TRPM3_uc004ahy.3_Missense_Mutation_p.P1190S|TRPM3_uc004ahz.3_Missense_Mutation_p.P1177S|TRPM3_uc004aia.3_Missense_Mutation_p.P1175S|TRPM3_uc004aib.3_Missense_Mutation_p.P1165S|TRPM3_uc004aic.3_Intron NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 1353 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 ATTAAGGTTGGAGAAGTTGGG 0.453000 93 25 0 0 0.003954 0 0 LOC646214 646214 broad.mit.edu 37 15 21936799 21936799 + RNA SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:21936799C>T uc010tzj.1 - 0 c.3941G>A Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. AAGGGATTTTCATTGAGGTAT 0.448000 77 11 0 0 0.001368 0 0 EIF3B 8662 broad.mit.edu 37 7 2415157 2415157 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2415157C>T uc003slx.3 + 13 2106 c.2023C>T c.(2023-2025)Cat>Tat p.H675Y EIF3B_uc003sly.3_Missense_Mutation_p.H675Y|EIF3B_uc003sma.3_Missense_Mutation_p.H403Y|EIF3B_uc003smb.3_5'Flank NM_003751 NP_003742 P55884 EIF3B_HUMAN Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA. 675 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex nucleotide binding|protein complex scaffold|translation initiation factor activity breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1) 24 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14) CTGGTGGAGCCATAAGGTGCA 0.582000 36 16 0 0 0.004990 0 0 PTPN23 25930 broad.mit.edu 37 3 47447872 47447872 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:47447872C>T uc003crf.1 + 6 700 c.604C>T c.(604-606)Ctg>Ttg p.L202L PTPN23_uc011baw.1_Silent_p.L167L|PTPN23_uc011bax.1_Non-coding_Transcript|PTPN23_uc011bay.1_Silent_p.L72L NM_015466 NP_056281 Q9H3S7 PTN23_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 23 (PTPN23), mRNA. 202 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAAGAGCTTTCTGGTGGCCCG 0.627000 22 14 0 0 0.004990 0 0 AKAP12 9590 broad.mit.edu 37 6 151671352 151671352 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:151671352C>T uc011eep.2 + 3 2066 c.1826C>T c.(1825-1827)cCc>cTc p.P609L AKAP12_uc003qoe.3_Missense_Mutation_p.P609L|AKAP12_uc003qof.3_Missense_Mutation_p.P511L|AKAP12_uc010kim.3_Intron|AKAP12_uc003qog.3_Missense_Mutation_p.P504L NM_005100 NP_005091 Q02952 AKA12_HUMAN Homo sapiens A kinase (PRKA) anchor protein 12 (AKAP12), transcript variant 1, mRNA. 609 AKAP 1. G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 68 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) GGTGTCACTCCCTGGGCATCA 0.507000 6 5 0 0 0.000602 0 0 MACC1 346389 broad.mit.edu 37 7 20199458 20199458 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:20199458C>T uc003sus.4 - 4 835 c.526G>A c.(526-528)Gag>Aag p.E176K MACC1_uc010kug.3_Missense_Mutation_p.E176K NM_182762 NP_877439 Q6ZN28 MACC1_HUMAN Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA. 176 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 TTATAAGCCTCCCGATCATTT 0.468000 41 18 0 0 0.007413 0 0 CDCA5 113130 broad.mit.edu 37 11 64847068 64847068 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:64847068G>A uc001ocp.2 - 4 600 c.435C>T c.(433-435)tcC>tcT p.S145S NM_080668 NP_542399 Q96FF9 CDCA5_HUMAN Homo sapiens cell division cycle associated 5 (CDCA5), mRNA. 145 G1/S transition of mitotic cell cycle|cell division|double-strand break repair|mitotic chromosome condensation|mitotic metaphase plate congression|mitotic sister chromatid cohesion|regulation of cohesin localization to chromatin cytoplasm|nuclear chromatin|plasma membrane chromatin binding|identical protein binding large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GCCGGCTGTAGGAACGCCTGA 0.632000 15 5 0 0 0.001984 0 0 BAI1 575 broad.mit.edu 37 8 143602235 143602235 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:143602235C>T uc003ywm.3 + 18 3156 c.2973C>T c.(2971-2973)atC>atT p.I991I NM_001702 NP_001693 O14514 BAI1_HUMAN Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA. 991 axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development cell-cell junction|integral to plasma membrane G-protein coupled receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7) 57 all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) GCCTGTCCATCATCTCCTCCA 0.577000 32 21 0 0 0.002780 0 0 CLVS2 134829 broad.mit.edu 37 6 123319199 123319199 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:123319199G>A uc003pzi.1 + 1 1146 c.277G>A c.(277-279)Gac>Aac p.D93N NM_001010852 NP_001010852 Q5SYC1 CLVS2_HUMAN Homo sapiens clavesin 2 (CLVS2), mRNA. 93 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity p.T92T(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 40 TAAGGCCACCGACCCTGGCAT 0.542000 23 21 0 0 0.002780 0 0 DHX37 57647 broad.mit.edu 37 12 125441594 125441594 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:125441594G>A uc001ugy.3 - 16 2344 c.2245C>T c.(2245-2247)Ccg>Tcg p.P749S NM_032656 NP_116045 Q8IY37 DHX37_HUMAN Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA. 749 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TTCTGGGGCGGTTGCAGGGCA 0.627000 36 24 0 0 0.003330 0 0 CACNA1S 779 broad.mit.edu 37 1 201010664 201010664 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:201010664C>T uc001gvv.3 - 40 5329 c.5102G>A c.(5101-5103)gGa>gAa p.G1701E NM_000069 NP_000060 Q13698 CAC1S_HUMAN Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA. 1701 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGGGCTCGTCCTCTGGTAGC 0.562000 14 10 0 0 0.001368 0 0 GRIA3 2892 broad.mit.edu 37 X 122598946 122598946 + Silent SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:122598946T>A uc004etq.4 + 12 2599 c.2307T>A c.(2305-2307)ccT>ccA p.P769P GRIA3_uc004etr.4_Silent_p.P769P|GRIA3_uc004ets.4_Non-coding_Transcript NM_007325 NP_015564 P42263 GRIA3_HUMAN Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA. 769 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) TGGCAACCCCTAAAGGCTCAG 0.403000 9 31 0 0 0.003271 0 0 XIRP2 129446 broad.mit.edu 37 2 168105004 168105004 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:168105004C>T uc002udx.3 + 8 7191 c.7102C>T c.(7102-7104)Cct>Tct p.P2368S XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2193S|XIRP2_uc010fpq.3_Missense_Mutation_p.P2146S|XIRP2_uc010fpr.3_Intron NM_152381 NP_689594 A4UGR9 XIRP2_HUMAN Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA. 2193 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 GCCGCCTCCTCCTCCTCCAAC 0.473000 63 28 0 0 0.005443 0 0 RIC3 79608 broad.mit.edu 37 11 8132470 8132470 + Silent SNP C G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:8132470C>G uc010rbm.1 - 5 1023 c.969G>C c.(967-969)tcG>tcC p.S323S RIC3_uc001mgb.2_Silent_p.S133S|RIC3_uc010rbl.1_Silent_p.S245S|RIC3_uc001mgd.2_Silent_p.S295S|RIC3_uc001mgc.2_Silent_p.S294S|RIC3_uc009yfm.2_Silent_p.S214S|RIC3_uc001mge.2_Silent_p.S113S|RIC3_uc009yfn.2_Silent_p.S98S NM_024557 NP_001193600 Q7Z5B4 RIC3_HUMAN Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA. 295 Golgi membrane|endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1) 17 Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204) TTGGATCACACGAGGTAACAG 0.473000 30 33 0 0 0.002836 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105912847 105912848 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:105912847_105912848CC>TT uc002tcq.3 - 3 1087_1088 c.1003_1004GG>AA c.(1003-1005)gga>AAa p.G335K TGFBRAP1_uc010fjc.3_Missense_Mutation_p.G105K|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.G335K NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 335 regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 CCTCCGGGCTCCTTTTGCTAAA 0.391000 64 20 0 0 0.004672 0 0 PCLO 27445 broad.mit.edu 37 7 82579779 82579779 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:82579779G>A uc003uhx.2 - 5 10414 c.10125C>T c.(10123-10125)acC>acT p.T3375T PCLO_uc003uhv.2_Silent_p.T3375T|PCLO_uc010lec.3_Silent_p.T340T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3306 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGACTGAACGGTGTACCATC 0.458000 16 10 0 0 0.006214 0 0 RACGAP1P 83956 broad.mit.edu 37 12 45458758 45458758 + RNA SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:45458758G>A uc001rol.3 - 0 c.437C>T Homo sapiens Rac GTPase activating protein 1 pseudogene (RACGAP1P), non-coding RNA. CCTCTGTTGAGAAAAGCCAAA 0.433000 19 8 0 0 0.006214 0 0 RASGRP3 25780 broad.mit.edu 37 2 33783992 33783992 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:33783992G>A uc002rox.3 + 17 2586 c.1959G>A c.(1957-1959)tgG>tgA p.W653* RASGRP3_uc010ync.2_Nonsense_Mutation_p.W653*|RASGRP3_uc002roy.3_Nonsense_Mutation_p.W652* NM_170672 NP_733772 Q8IV61 GRP3_HUMAN Homo sapiens RAS guanyl releasing protein 3 (calcium and DAG-regulated) (RASGRP3), transcript variant 2, mRNA. 653 MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular Rap GTPase activator activity|calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TTGCCAAATGGGAAAATGAGA 0.532000 31 19 0 0 0.006122 0 0 OR5K4 403278 broad.mit.edu 37 3 98073321 98073321 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:98073321C>T uc011bgv.2 + 0 624 c.624C>T c.(622-624)atC>atT p.I208I NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA. 208 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I208I(2)|p.Q207E(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 21 CAATTCAAATCTTTACCATTG 0.343000 16 15 0 0 0.004007 0 0 PTPN1 5770 broad.mit.edu 37 20 49195771 49195771 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:49195771C>T uc002xvl.3 + 6 943 c.769C>T c.(769-771)Cgg>Tgg p.R257W PTPN1_uc010zys.2_Missense_Mutation_p.R184W NM_002827 NP_002818 P18031 PTN1_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 1 (PTPN1), mRNA. 257 Tyrosine-protein phosphatase. blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol|endoplasmic reticulum membrane protein tyrosine phosphatase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2) 16 Lung NSC(126;0.163) Clodronate(DB00720)|Tiludronate(DB01133) GAGGAAGTTTCGGATGGGGCT 0.512000 79 47 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140256181 140256181 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140256181C>T uc003lic.2 + 0 1251 c.1124C>T c.(1123-1125)tCg>tTg p.S375L PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.S375L NM_018903 NP_061726 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA. 390 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTAGCGTGTCGGATCGTGAC 0.512000 18 18 0 0 0.007413 0 0 ZNF404 342908 broad.mit.edu 37 19 44377618 44377618 + Missense_Mutation SNP C T T rs35756172 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44377618C>T uc002oxs.4 - 1 739 c.739G>A c.(739-741)Gaa>Aaa p.E247K NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN Homo sapiens zinc finger protein 404 (ZNF404), mRNA. 250 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|stomach(2)|urinary_tract(1) 17 Prostate(69;0.0352) CTAAACGTTTCCCCACATTCC 0.388000 35 19 0 0 0.007413 0 0 C1orf173 127254 broad.mit.edu 37 1 75101972 75101972 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:75101972G>A uc001dgg.3 - 5 814 c.595C>T c.(595-597)Ccc>Tcc p.P199S C1orf173_uc001dgi.4_5'Flank NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA. 199 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 ACCCCAATGGGAAACAGAGCT 0.318000 42 29 0 0 0.005443 0 0 BIRC7 79444 broad.mit.edu 37 20 61870828 61870828 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:61870828G>A uc002yej.3 + 5 941 c.768G>A c.(766-768)ctG>ctA p.L256L BIRC7_uc010gkc.1_3'UTR|BIRC7_uc002yei.3_Silent_p.L238L NM_139317 NP_647478 Q96CA5 BIRC7_HUMAN Homo sapiens baculoviral IAP repeat containing 7 (BIRC7), transcript variant 1, mRNA. 256 DNA fragmentation involved in apoptotic nuclear change|activation of JUN kinase activity|anti-apoptosis cytoplasm|nucleus enzyme binding|zinc ion binding endometrium(1)|kidney(1)|lung(9)|ovary(1) 12 all_cancers(38;2.72e-09) AGGTGTGCCTGGACCGCGCCG 0.697000 34 15 0 0 0.004007 0 0 ATM 472 broad.mit.edu 37 11 108139249 108139249 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:108139249C>T uc001pkb.1 + 17 3136 c.2751C>T c.(2749-2751)tcC>tcT p.S917S ATM_uc009yxr.1_Silent_p.S917S|ATM_uc009yxs.1_Non-coding_Transcript NM_000051 NP_000042 Q13315 ATM_HUMAN Homo sapiens ataxia telangiectasia mutated (ATM), mRNA. 917 DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2/M transition DNA damage checkpoint|cell cycle arrest|cellular response to gamma radiation|double-strand break repair via homologous recombination|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein N-terminus binding|protein complex binding|protein dimerization activity NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) ATACTGTGTCCTTTAGGGCAG 0.398000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 19 44 0 0 0.003610 0 0 COL13A1 1305 broad.mit.edu 37 10 71648064 71648064 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:71648064C>T uc001jql.3 + 7 1063 c.527C>T c.(526-528)cCc>cTc p.P176L COL13A1_uc021prz.1_Missense_Mutation_p.P176L|COL13A1_uc021psa.1_Missense_Mutation_p.P138L|COL13A1_uc021psb.1_Missense_Mutation_p.P147L|COL13A1_uc001jqk.2_Missense_Mutation_p.P176L|COL13A1_uc021psc.1_Missense_Mutation_p.P176L|COL13A1_uc021psd.1_Missense_Mutation_p.P176L|COL13A1_uc010qjf.2_Missense_Mutation_p.P138L|COL13A1_uc021pse.1_Missense_Mutation_p.P147L|COL13A1_uc021psf.1_Missense_Mutation_p.P176L|COL13A1_uc021psg.1_Missense_Mutation_p.P176L|COL13A1_uc021psh.1_Missense_Mutation_p.P176L NM_001130103 NP_001123575 Q5TAT6 CODA1_HUMAN Homo sapiens collagen, type XIII, alpha 1 (COL13A1), transcript variant 1, mRNA. 176 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) TTTCAGGGTCCCATTGGGCTG 0.537000 11 7 0 0 0.003080 0 0 KIF9 64147 broad.mit.edu 37 3 47298994 47298994 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:47298994G>A uc010hjp.3 - 10 1642 c.1038C>T c.(1036-1038)atC>atT p.I346I KIF9_uc003cqx.3_Silent_p.I346I|KIF9_uc003cqy.3_Silent_p.I346I|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript NM_001134878 NP_878905 Q9HAQ2 KIF9_HUMAN Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA. 346 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ACTTTTCATTGATGGCAGGCT 0.507000 48 30 0 0 0.006999 0 0 UGT2B7 7364 broad.mit.edu 37 4 69972974 69972974 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:69972974C>T uc003heg.4 + 3 1130 c.1084C>T c.(1084-1086)Ctt>Ttt p.L362F UGT2B7_uc010ihq.3_Missense_Mutation_p.L362F NM_001074 NP_001065 P16662 UD2B7_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA. 362 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CCAGAATGACCTTCTAGGTAA 0.348000 47 23 0 0 0.003330 0 0 CR1 1378 broad.mit.edu 37 1 207789989 207789989 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:207789989C>T uc001hfy.3 + 32 5521 c.5381C>T c.(5380-5382)cCc>cTc p.P1794L CR1_uc001hfx.3_Missense_Mutation_p.P2244L|CR1_uc021pij.1_Missense_Mutation_p.P1794L NM_000573 NP_000564 P17927 CR1_HUMAN Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA. 1794 Sushi 28. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity p.T1793A(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 GGAGATATTCCCTATGGAAAA 0.453000 43 31 0 0 0.002445 0 0 GPRIN3 285513 broad.mit.edu 37 4 90171112 90171112 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:90171112G>A uc003hsm.1 - 1 669 c.150C>T c.(148-150)gcC>gcT p.A50A GPRIN3_uc021xqb.1_Silent_p.A50A NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN Homo sapiens GPRIN family member 3 (GPRIN3), mRNA. 50 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) GTTCTGCAGGGGCACCTGAAA 0.567000 41 18 0 0 0.004990 0 0 CCDC92 80212 broad.mit.edu 37 12 124422110 124422110 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:124422110G>A uc001ufw.1 - 4 638 c.491C>T c.(490-492)gCc>gTc p.A164V CCDC92_uc001ufv.1_Missense_Mutation_p.A147V|CCDC92_uc001ufx.1_Missense_Mutation_p.A164V NM_025140 NP_079416 Q53HC0 CCD92_HUMAN Homo sapiens coiled-coil domain containing 92 (CCDC92), mRNA. 164 large_intestine(5)|lung(2) 7 all_neural(191;0.101)|Medulloblastoma(191;0.163) Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242) CTTCTTGGCGGCGTGCAGCTG 0.647000 31 26 0 0 0.005443 0 0 PIM3 415116 broad.mit.edu 37 22 50356709 50356710 + Silent DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:50356709_50356710CC>TT uc003bjb.3 + 5 1368_1369 c.915_916CC>TT c.(913-918)gacctg>gaTTtg p.305_306DL>DL PIM3_uc011arj.2_Silent_p.68_69DL>DL NM_001001852 NP_001001852 Q86V86 PIM3_HUMAN Homo sapiens pim-3 oncogene (PIM3), mRNA. 305 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) AGAGCTGTGACCTGCGGCTGTG 0.683000 11 4 0 0 0.004672 0 0 ZNF585B 92285 broad.mit.edu 37 19 37676996 37676996 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:37676996G>A uc002ofq.3 - 4 1695 c.1443C>T c.(1441-1443)ctC>ctT p.L481L ZNF585B_uc002ofr.1_Silent_p.L295L NM_152279 NP_689492 Q52M93 Z585B_HUMAN Homo sapiens zinc finger protein 585B (ZNF585B), mRNA. 481 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GATGTGTAATGAGATTTGACC 0.403000 53 24 0 0 0.002445 0 0 OLFM3 118427 broad.mit.edu 37 1 102312501 102312501 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:102312501G>A uc001duf.2 - 0 100 c.29C>T c.(28-30)gCt>gTt p.A10V OLFM3_uc001dug.2_Intron|OLFM3_uc001duh.2_Intron|OLFM3_uc001dui.2_Intron|OLFM3_uc001duj.2_Intron|OLFM3_uc001due.2_Non-coding_Transcript NM_058170 NP_477518 Q96PB7 NOE3_HUMAN Homo sapiens olfactomedin 3 (OLFM3), mRNA. 10 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) ACTAAGCACAGCGCCAAGCTT 0.537000 33 18 0 0 0.007413 0 0 EPN2 22905 broad.mit.edu 37 17 19237303 19237303 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:19237303C>T uc002gvd.4 + 10 2110 c.1662C>T c.(1660-1662)ttC>ttT p.F554F EPN2_uc002gve.4_Silent_p.F497F|EPN2_uc002gvf.4_Silent_p.F269F|EPN2_uc010vyo.2_Silent_p.F262F|EPN2_uc002gvh.1_Intron|EPN2_uc010vyp.2_Silent_p.F490F|EPN2_uc010vyq.2_Silent_p.F491F|EPN2_uc002gvj.3_Intron NM_014964 NP_001096134 O95208 EPN2_HUMAN Homo sapiens epsin 2 (EPN2), transcript variant 2, mRNA. 554 3 X 3 AA repeats of N-P-F.|6 X 3 AA repeats of [DE]-P-W. endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) TTAACCCTTTCCAGGTGAACC 0.652000 9 8 0 0 0.003080 0 0 RAB5B 5869 broad.mit.edu 37 12 56385937 56385937 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:56385937C>T uc001siv.3 + 5 769 c.589C>T c.(589-591)Cgg>Tgg p.R197W RAB5B_uc001siw.3_Missense_Mutation_p.R197W|RAB5B_uc010spz.2_Missense_Mutation_p.R156W|RAB5B_uc009zog.3_Missense_Mutation_p.R137W NM_001252036 NP_001238965 P61020 RAB5B_HUMAN Homo sapiens RAB5B, member RAS oncogene family (RAB5B), transcript variant 2, mRNA. 197 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity p.R197R(1) endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) AGGCCGAAGCCGGGGTGTGGA 0.493000 50 18 0 0 0.002780 0 0 PRRC2A 7916 broad.mit.edu 37 6 31597008 31597009 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr6:31597008_31597009CC>TT uc003nvb.4 + 12 2102_2103 c.1853_1854CC>TT c.(1852-1854)ccc>cTT p.P618L PRRC2A_uc011dnv.1_Intron|PRRC2A_uc003nvc.4_Missense_Mutation_p.P618L NM_080686 NP_542417 P48634 PRC2A_HUMAN Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA. 618 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 AAGGTGGAACCCAAGGGTGATG 0.579000 23 28 0 0 0.004672 0 0 DNAH7 56171 broad.mit.edu 37 2 196834767 196834767 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:196834767C>T uc002utj.4 - 16 2211 c.2110G>A c.(2110-2112)Gaa>Aaa p.E704K NM_018897 NP_061720 Q8WXX0 DYH7_HUMAN Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA. 704 Stem (By similarity). 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 TAAAATTCTTCTGATTGCTTA 0.343000 48 16 0 0 0.004990 0 0 PVRL3 25945 broad.mit.edu 37 3 110852704 110852704 + Missense_Mutation SNP G C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:110852704G>C uc003dxt.2 + 5 1551 c.1292G>C c.(1291-1293)aGa>aCa p.R431T PVRL3_uc003dxu.2_Intron|PVRL3_uc021xch.1_3'UTR NM_015480 NP_056295 Q9NQS3 PVRL3_HUMAN Homo sapiens poliovirus receptor-related 3 (PVRL3), transcript variant 1, mRNA. 431 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane cell adhesion molecule binding|protein homodimerization activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3) 19 TATAGGAGAAGACGGACGTTT 0.413000 58 37 0 0 0.003755 0 0 HPR 3250 broad.mit.edu 37 16 72110725 72110725 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:72110725G>A uc002fby.3 + 4 822 c.792G>A c.(790-792)aaG>aaA p.K264K TXNL4B_uc010cgl.2_Intron NM_020995 NP_066275 P00739 HPTR_HUMAN Homo sapiens haptoglobin-related protein (HPR), mRNA. 264 Peptidase S1. proteolysis spherical high-density lipoprotein particle hemoglobin binding|serine-type endopeptidase activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2) 20 Ovarian(137;0.125) CCAAATGGAAGGCACCGAAGA 0.507000 48 10 0 0 0.006214 0 0 STK32C 282974 broad.mit.edu 37 10 134021640 134021640 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:134021640C>T uc010quu.1 - 11 1490 c.1374G>A c.(1372-1374)caG>caA p.Q458Q STK32C_uc001lld.1_Silent_p.Q328Q|STK32C_uc001lle.1_Silent_p.Q445Q|STK32C_uc001llb.2_Silent_p.Q216Q|STK32C_uc001llc.1_Non-coding_Transcript NM_173575 NP_775846 Q86UX6 ST32C_HUMAN Homo sapiens serine/threonine kinase 32C (STK32C), mRNA. 445 ATP binding|metal ion binding|protein serine/threonine kinase activity breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1) 23 all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203) Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222) TCGGGAGGTCCTGGCTCCTCT 0.701000 20 12 0 0 0.002450 0 0 GPR98 84059 broad.mit.edu 37 5 89953728 89953728 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:89953728G>A uc003kju.3 + 20 4481 c.4385G>A c.(4384-4386)gGg>gAg p.G1462E GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 1462 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding 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) TCAGGTCCTGGGATACTGAGA 0.393000 19 14 0 0 0.003163 0 0 SPTA1 6708 broad.mit.edu 37 1 158612669 158612669 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158612669C>T uc001fst.1 - 31 4739 c.4540G>A c.(4540-4542)Gaa>Aaa p.E1514K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 1514 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGATCCATTCTTCCAGCTCC 0.453000 75 38 0 0 0.002522 0 0 BCL2L11 10018 broad.mit.edu 37 2 111881509 111881509 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:111881509C>T uc002tgv.1 + 1 475 c.187C>T c.(187-189)Ccg>Tcg p.P63S BCL2L11_uc002tgt.1_Intron|BCL2L11_uc021vmo.1_Intron|BCL2L11_uc002tgu.1_Intron|BCL2L11_uc002tgy.2_Intron|BCL2L11_uc002thb.2_Intron|BCL2L11_uc002tgx.2_Intron|BCL2L11_uc021vmp.1_Missense_Mutation_p.P63S|BCL2L11_uc010fkd.2_Intron|BCL2L11_uc002tgz.2_Intron|BCL2L11_uc002thd.2_Intron|BCL2L11_uc002tha.2_Missense_Mutation_p.P63S|BCL2L11_uc010fke.2_Intron|BCL2L11_uc021vmq.1_Missense_Mutation_p.P63S|BCL2L11_uc002thc.2_Intron|BCL2L11_uc021vmr.1_Missense_Mutation_p.P63S|BCL2L11_uc002tgw.2_Intron|BCL2L11_uc021vms.1_Missense_Mutation_p.P63S NM_138621 NP_619527 O43521 B2L11_HUMAN Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA. 63 activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane protein binding p.P63P(1) endometrium(4)|large_intestine(3)|lung(2)|prostate(2) 11 CCCTCAGGGCCCGCTGGCCCC 0.612000 23 11 0 0 0.000673 0 0 IPW 3653 broad.mit.edu 37 15 25430721 25430721 + Splice_Site SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:25430721G>T uc001yyy.1 + 6 c.615_splice c.e6+1 IPW_uc001yza.1_Splice_Site|SNORD115-9_uc001yzc.1_5'Flank|SNORD115-10_uc001yzd.1_5'Flank Homo sapiens clone Rt-7 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced. ACTGAGGTGTGGTGAGTCCAT 0.582000 46 34 9.65021e-13 1.20714e-12 0.002096 1 0 ODZ3 55714 broad.mit.edu 37 4 183694726 183694726 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:183694726C>T uc003ivd.1 + 21 5069 c.4994C>T c.(4993-4995)tCa>tTa p.S1665L NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA. 1665 signal transduction integral to membrane NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4) 129 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) GACATTGAGTCATCTAGCCGA 0.438000 64 27 0 0 0.006320 0 0 CGNL1 84952 broad.mit.edu 37 15 57838369 57838369 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:57838369G>A uc010bfw.3 + 18 3898 c.3705G>A c.(3703-3705)gaG>gaA p.E1235E CGNL1_uc002aeg.3_Silent_p.E1235E|CGNL1_uc021smw.1_5'Flank NM_001252335 NP_001239264 Q0VF96 CGNL1_HUMAN Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA. 1235 myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TGCAGAGGGAGCTGGAGGAGC 0.557000 4 6 0 0 0.001168 0 0 CHST12 55501 broad.mit.edu 37 7 2472882 2472882 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:2472882C>T uc003smc.3 + 1 771 c.608C>T c.(607-609)cCg>cTg p.P203L CHST12_uc003smd.3_Missense_Mutation_p.P203L|CHST12_uc021zyu.1_Missense_Mutation_p.P203L|CHST12_uc021zyv.1_Missense_Mutation_p.P203L NM_001243794 NP_001230723 Q9NRB3 CHSTC_HUMAN Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 12 (CHST12), transcript variant 1, mRNA. 203 dermatan sulfate biosynthetic process integral to Golgi membrane 3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding p.P203P(2) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 21 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13) CTGCGCATCCCGCGCGAGCAC 0.662000 10 11 0 0 0.000673 0 0 DYRK3 8444 broad.mit.edu 37 1 206822100 206822100 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:206822100C>T uc001hej.3 + 2 1725 c.1557C>T c.(1555-1557)caC>caT p.H519H DYRK3_uc001hek.3_Intron|DYRK3_uc001hei.3_Silent_p.H499H NM_003582 NP_003573 O43781 DYRK3_HUMAN Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3 (DYRK3), transcript variant 1, mRNA. 519 Protein kinase. erythrocyte differentiation nucleus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2) 25 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.166) CATTAAGACACCCTTGGATTA 0.498000 27 17 0 0 0.007413 0 0 MYO7A 4647 broad.mit.edu 37 11 76870559 76870559 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:76870559C>T uc001oyb.2 + 9 1342 c.1070C>T c.(1069-1071)tCc>tTc p.S357F MYO7A_uc010rsl.2_Missense_Mutation_p.S357F|MYO7A_uc010rsm.1_Missense_Mutation_p.S346F|MYO7A_uc001oyc.2_Missense_Mutation_p.S357F NM_000260 NP_000251 Q13402 MYO7A_HUMAN Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA. 357 Myosin head-like. actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse ATP binding|actin binding|calmodulin binding|microfilament motor activity p.S357S(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 ACAGCTGCATCCCTGCTTGAG 0.572000 36 27 0 0 0.001786 0 0 SPATA20 64847 broad.mit.edu 37 17 48631790 48631791 + Nonsense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48631790_48631791CC>TT uc002ird.3 + 14 2277_2278 c.2136_2137CC>TT c.(2134-2139)gcccag>gcTTag p.Q713* SPATA20_uc002irc.3_Nonsense_Mutation_p.Q364*|SPATA20_uc002ire.3_Nonsense_Mutation_p.Q653*|SPATA20_uc002irf.3_Nonsense_Mutation_p.Q697*|SPATA20_uc002irg.3_Non-coding_Transcript NM_022827 NP_073738 Q8TB22 SPT20_HUMAN Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA. 697 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) CCCTCTCAGCCCAGCAGCAGAC 0.649000 77 21 0 0 0.004672 0 0 FLG 2312 broad.mit.edu 37 1 152281609 152281609 + Missense_Mutation SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:152281609A>G uc001ezu.1 - 2 5789 c.5753T>C c.(5752-5754)gTt>gCt p.V1918A NM_002016 NP_002007 P20930 FILA_HUMAN Homo sapiens filaggrin (FLG), mRNA. 1918 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTCCTGGCTAACACTGGATCC 0.567000 Ichthyosis 125 55 0 0 0.003610 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140793642 140793642 + Missense_Mutation SNP A T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:140793642A>T uc003lkl.2 + 0 900 c.900A>T c.(898-900)aaA>aaT p.K300N PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.K300N NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 297 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACTAAACAAATATACTGGAG 0.378000 4 5 0 0 0.000602 0 0 ANK3 288 broad.mit.edu 37 10 61834949 61834949 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:61834949G>A uc001jky.3 - 36 6028 c.5690C>T c.(5689-5691)tCc>tTc p.S1897F ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron NM_020987 NP_066267 Q12955 ANK3_HUMAN Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA. 1897 Ser-rich. establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding p.S1896C(1) NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 CTCCTGACTGGAAGATAAAGA 0.448000 32 29 0 0 0.007291 0 0 RASSF4 83937 broad.mit.edu 37 10 45467187 45467187 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:45467187C>T uc001jbp.3 + 1 1671 c.122C>T c.(121-123)aCc>aTc p.T41I RASSF4_uc001jbo.3_Intron|RASSF4_uc009xmn.3_Intron|RASSF4_uc001jbq.3_Intron Q9H2L5 RASF4_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family member 4 (RASSF4), mRNA. 0 cell cycle|signal transduction protein binding NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 CCCTGCCACACCCTAGGAGTA 0.542000 30 18 0 0 0.002299 0 0 RYR1 6261 broad.mit.edu 37 19 39023320 39023320 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:39023320C>T uc002oit.3 + 77 11333 c.11203C>T c.(11203-11205)Ctg>Ttg p.L3735L RYR1_uc002oiu.3_Silent_p.L3730L|RYR1_uc002oiv.1_Silent_p.L650L|RYR1_uc010xuf.1_Silent_p.L655L NM_000540 NP_000531 P21817 RYR1_HUMAN Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA. 3735 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GAGCTGCCACCTGGAGGAGGG 0.617000 29 7 0 0 0.001984 0 0 TIGIT 201633 broad.mit.edu 37 3 114026783 114026783 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:114026783G>A uc003ebg.2 + 3 1295 c.540G>A c.(538-540)agG>agA p.R180R NM_173799 NP_776160 Q495A1 TIGIT_HUMAN Homo sapiens T cell immunoreceptor with Ig and ITIM domains (TIGIT), mRNA. 180 negative regulation of T cell activation|negative regulation of interleukin-12 production|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1) 17 GTGACCTCAGGAGAAAATCAG 0.512000 36 21 0 0 0.001882 0 0 ACVRL1 94 broad.mit.edu 37 12 52312851 52312851 + Nonsense_Mutation SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:52312851T>A uc001rzj.3 + 8 1612 c.1329T>A c.(1327-1329)tgT>tgA p.C443* ACVRL1_uc001rzk.3_Nonsense_Mutation_p.C443*|ACVRL1_uc010snm.2_Nonsense_Mutation_p.C269* NM_000020 NP_001070869 P37023 ACVL1_HUMAN Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA. 443 Protein kinase. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells cell surface|integral to plasma membrane ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 20 BRCA - Breast invasive adenocarcinoma(357;0.0991) Adenosine triphosphate(DB00171) AGGTGGTGTGTGTGGATCAGC 0.587000 28 27 0 0 0.003954 0 0 MYT1 4661 broad.mit.edu 37 20 62839626 62839626 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:62839626G>A uc002yii.3 + 6 1441 c.1077G>A c.(1075-1077)cgG>cgA p.R359R MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR NM_004535 NP_004526 Q01538 MYT1_HUMAN Homo sapiens myelin transcription factor 1 (MYT1), mRNA. 359 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R359W(1) breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CCCACTCCCGGAAGTCAACAG 0.602000 30 20 0 0 0.001216 0 0 CAMK2G 818 broad.mit.edu 37 10 75607101 75607101 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75607101G>A uc001jvv.2 - 9 807 c.677C>T c.(676-678)cCa>cTa p.P226L CAMK2G_uc001jvs.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvm.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvo.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvp.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvq.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvr.2_Missense_Mutation_p.P234L|CAMK2G_uc001jvt.2_Non-coding_Transcript|CAMK2G_uc010qkv.2_Intron NM_172171 NP_751911 Q13555 KCC2G_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase II gamma (CAMK2G), transcript variant 1, mRNA. 234 Protein kinase. insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 15 Prostate(51;0.0112) TTCTGGTGATGGGAACTAAGG 0.488000 33 14 0 0 0.002450 0 0 SPATA18 132671 broad.mit.edu 37 4 52946055 52946055 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:52946055G>A uc003gzl.3 + 8 1603 c.1325G>A c.(1324-1326)gGa>gAa p.G442E SPATA18_uc010igl.1_Non-coding_Transcript|SPATA18_uc011bzq.2_Missense_Mutation_p.G410E|SPATA18_uc003gzk.1_Missense_Mutation_p.G442E NM_145263 NP_660306 Q8TC71 MIEAP_HUMAN Homo sapiens spermatogenesis associated 18 (SPATA18), mRNA. 442 mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus mitochondrial outer membrane protein binding breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204) ATTGCATATGGAGCAGATGGA 0.418000 88 48 0 0 0.003610 0 0 WDR48 57599 broad.mit.edu 37 3 39136169 39136169 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:39136169G>A uc003cit.3 + 18 1979 c.1969G>A c.(1969-1971)Gtg>Atg p.V657M WDR48_uc011ayt.1_Missense_Mutation_p.V648M|WDR48_uc011ayu.1_Missense_Mutation_p.V575M|WDR48_uc011ayv.1_Missense_Mutation_p.V382M|WDR48_uc003ciu.3_Non-coding_Transcript NM_020839 NP_065890 Q8TAF3 WDR48_HUMAN Homo sapiens WD repeat domain 48 (WDR48), mRNA. 657 interspecies interaction between organisms|protein deubiquitination lysosome|nucleus protein binding breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CCTTCGAACAGTGAAACACTT 0.398000 55 30 0 0 0.002836 0 0 MUC16 94025 broad.mit.edu 37 19 9090179 9090179 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:9090179C>T uc002mkp.3 - 0 1840 c.1636G>A c.(1636-1638)Gag>Aag p.E546K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 546 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 GGGGGTCTCTCTGTTTTCATG 0.527000 22 13 0 0 0.001855 0 0 ABCA8 10351 broad.mit.edu 37 17 66925719 66925719 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:66925719G>A uc002jhq.3 - 7 1262 c.922C>T c.(922-924)Ctg>Ttg p.L308L ABCA8_uc002jhp.3_Silent_p.L308L|ABCA8_uc010wqq.2_Silent_p.L308L|ABCA8_uc010wqr.2_Silent_p.L247L|ABCA8_uc002jhr.3_Silent_p.L308L NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 308 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AATCCATACAGGAGAAAGAGG 0.378000 63 21 0 0 0.002299 0 0 ZBTB3 79842 broad.mit.edu 37 11 62520256 62520257 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:62520256_62520257GG>AA uc001nuz.3 - 1 1152_1153 c.1030_1031CC>TT c.(1030-1032)cca>TTa p.P344L NM_024784 NP_079060 Q9H5J0 ZBTB3_HUMAN Homo sapiens zinc finger and BTB domain containing 3 (ZBTB3), mRNA. 344 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2) 24 Agctggggctggagcctgggat 0.569000 29 17 0 0 0.004672 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111795735 111795735 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:111795735C>T uc010hqb.2 + 13 1760 c.1590C>T c.(1588-1590)ccC>ccT p.P530P TMPRSS7_uc011bhr.1_Silent_p.P385P NM_001042575 NP_001036040 Q7RTY8 TMPS7_HUMAN Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA. 656 LDL-receptor class A 2. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGTCAGATCCCACACCATGGA 0.453000 68 32 0 0 0.006230 0 0 ZNF221 7638 broad.mit.edu 37 19 44471349 44471349 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:44471349G>A uc002oxx.2 + 5 2023 c.1695G>A c.(1693-1695)aaG>aaA p.K565K ZNF221_uc010ejb.1_Silent_p.K565K|ZNF221_uc010xws.1_Silent_p.K565K NM_013359 NP_037491 Q9UK13 ZN221_HUMAN Homo sapiens zinc finger protein 221 (ZNF221), mRNA. 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 30 Prostate(69;0.0352) ATAATTGTAAGGAATGTGGAA 0.453000 36 19 0 0 0.002299 0 0 SYBU 55638 broad.mit.edu 37 8 110598373 110598373 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:110598373C>T uc010mcp.3 - 4 808 c.446G>A c.(445-447)aGc>aAc p.S149N SYBU_uc003yni.4_Missense_Mutation_p.S146N|SYBU_uc003ynk.4_Missense_Mutation_p.S30N|SYBU_uc003ynj.4_Missense_Mutation_p.S149N|SYBU_uc010mco.3_Missense_Mutation_p.S148N|SYBU_uc003ynl.4_Missense_Mutation_p.S148N|SYBU_uc010mcq.3_Missense_Mutation_p.S149N|SYBU_uc003yno.4_Missense_Mutation_p.S30N|SYBU_uc010mcr.3_Missense_Mutation_p.S149N|SYBU_uc003ynm.4_Missense_Mutation_p.S148N|SYBU_uc003ynn.4_Missense_Mutation_p.S148N|SYBU_uc010mcs.3_Missense_Mutation_p.S30N|SYBU_uc010mct.3_Missense_Mutation_p.S149N|SYBU_uc010mcu.3_Missense_Mutation_p.S148N|SYBU_uc003ynp.4_Missense_Mutation_p.S81N|SYBU_uc010mcv.3_Missense_Mutation_p.S149N|SYBU_uc011lhw.2_Missense_Mutation_p.S19N NM_001099752 NP_001093225 Q9NX95 SYBU_HUMAN Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA. 149 Ser-rich.|Sufficient for interaction with KIF5B. Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GCTCGAGGAGCTAAAATCAGC 0.532000 7 9 0 0 0.006214 0 0 ACTC1 70 broad.mit.edu 37 15 35087030 35087030 + Splice_Site SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:35087030T>C uc001ziu.1 - 2 222 c.-21_splice c.e2-1 AK092087_uc001zit.1_Intron NM_005159 NP_005150 P68032 ACTC_HUMAN Homo sapiens actin, alpha, cardiac muscle 1 (ACTC1), mRNA. apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly I band|actomyosin, actin part|cytosol ATP binding|ATPase activity|myosin binding central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 31 all_lung(180;2.3e-08) all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244) CTTCAGGGGGTTCTGCAGGTT 0.647000 52 34 0 0 0.006230 0 0 R3HDML 140902 broad.mit.edu 37 20 42969931 42969931 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:42969931G>A uc002xls.1 + 1 529 c.357G>A c.(355-357)caG>caA p.Q119Q NM_178491 NP_848586 Q9H3Y0 CRSPL_HUMAN Homo sapiens R3H domain containing-like (R3HDML), mRNA. 119 extracellular region peptidase inhibitor activity p.G118R(1) NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14) 21 Myeloproliferative disorder(115;0.028) COAD - Colon adenocarcinoma(18;0.00189) ACGTGGGCCAGAACCTCTCCA 0.572000 32 13 0 0 0.006122 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65862521 65862521 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:65862521G>A uc002apc.3 + 7 896 c.753G>A c.(751-753)tgG>tgA p.W251* PTPLAD1_uc010uiw.2_Nonsense_Mutation_p.W196* NM_016395 NP_057479 Q9P035 HACD3_HUMAN Homo sapiens protein tyrosine phosphatase-like A domain containing 1 (PTPLAD1), mRNA. 251 I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction|activation of JUN kinase activity|fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 TTTATTTGTGGAGTGCAATTG 0.383000 36 16 0 0 0.007413 0 0 UBASH3A 53347 broad.mit.edu 37 21 43864686 43864686 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr21:43864686C>T uc002zbe.3 + 13 1865 c.1781C>T c.(1780-1782)tCc>tTc p.S594F UBASH3A_uc002zbf.3_Missense_Mutation_p.S556F|UBASH3A_uc010gpe.3_Intron|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript NM_018961 NP_061834 P57075 UBS3A_HUMAN Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA. 594 Phosphatase-like. cytosol|nucleus breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3) 28 ACTCTGGACTCCTGCACGCGG 0.577000 120 37 0 0 0.006999 0 0 ARGFX 503582 broad.mit.edu 37 3 121304943 121304943 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:121304943C>T uc003eef.3 + 4 539 c.444C>T c.(442-444)atC>atT p.I148I NM_001012659 NP_001012677 A6NJG6 ARGFX_HUMAN Homo sapiens arginine-fifty homeobox (ARGFX), mRNA. 148 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GAAACCAGATCCTTCCATCCA 0.502000 27 13 0 0 0.001855 0 0 CACNA1E 777 broad.mit.edu 37 1 181741226 181741226 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:181741226G>A uc009wxt.3 + 36 5193 c.4998G>A c.(4996-4998)caG>caA p.Q1666Q CACNA1E_uc001gow.3_Silent_p.Q1666Q|CACNA1E_uc009wxs.3_Silent_p.Q1647Q|CACNA1E_uc001gox.1_Silent_p.Q892Q NM_001205293 NP_001192222 Q15878 CAC1E_HUMAN Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA. 1666 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity 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 AGGCCTGGCAGGAGATTATGC 0.557000 26 14 0 0 0.001855 0 0 COL6A6 131873 broad.mit.edu 37 3 130284201 130284201 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:130284201G>A uc010htl.3 + 2 1056 c.1025G>A c.(1024-1026)cGa>cAa p.R342Q NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA. 342 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GTGACCCACCGAGATTCAGAA 0.562000 78 29 0 0 0.002836 0 0 CCIN 881 broad.mit.edu 37 9 36170445 36170445 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:36170445C>T uc003zzb.4 + 0 1057 c.946C>T c.(946-948)Cgg>Tgg p.R316W NM_005893 NP_005884 Q13939 CALI_HUMAN Homo sapiens calicin (CCIN), mRNA. 316 cell differentiation|multicellular organismal development|spermatogenesis cytoskeletal calyx structural constituent of cytoskeleton breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4) 21 STAD - Stomach adenocarcinoma(86;0.228) CATGCCCTATCGGGCAGCAGC 0.547000 10 18 0 0 0.004990 0 0 IL36B 27177 broad.mit.edu 37 2 113783693 113783693 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:113783693C>T uc002tiq.1 - 4 482 c.378G>A c.(376-378)tgG>tgA p.W126* NM_014438 NP_055253 Q9NZH7 IL36B_HUMAN Homo sapiens interleukin 36, beta (IL36B), transcript variant 1, mRNA. 126 immune response extracellular space cytokine activity|interleukin-1 receptor binding kidney(1)|ovary(1)|pancreas(1) 3 ctcctattccccattggtcaa 0.473000 14 6 0 0 0.001168 0 0 CHD7 55636 broad.mit.edu 37 8 61735300 61735300 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:61735300C>T uc003xue.3 + 11 3688 c.3196C>T c.(3196-3198)Ccc>Tcc p.P1066S CHD7_uc022aux.1_Intron|CHD7_uc003xuf.3_Missense_Mutation_p.P179S NM_017780 NP_060250 Q9P2D1 CHD7_HUMAN Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA. 1066 Helicase ATP-binding. T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent nucleus ATP binding|DNA binding|chromatin binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CTTCAAAGATCCCCAGGTAAA 0.403000 98 62 0 0 0.003610 0 0 MGA 23269 broad.mit.edu 37 15 42059094 42059094 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:42059094C>T uc010ucy.2 + 23 8995 c.8814C>T c.(8812-8814)ctC>ctT p.L2938L MGA_uc010ucz.2_Silent_p.L2729L NM_001164273 NP_001157745 Q8IWI9 MGAP_HUMAN Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA. 2899 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) AGGATTCCCTCCTTTCCAACA 0.458000 32 13 0 0 0.002450 0 0 MARCH10 162333 broad.mit.edu 37 17 60779114 60779114 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:60779114C>T uc010dds.3 - 11 2776 c.2491G>A c.(2491-2493)Gag>Aag p.E831K MARCH10_uc010ddr.3_Missense_Mutation_p.E793K|MARCH10_uc002jag.4_Missense_Mutation_p.E793K NM_152598 NP_689811 Q8NA82 MARHA_HUMAN Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA. 793 ligase activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15) 38 TCTCCCAACTCCGAATCTGGA 0.587000 70 26 0 0 0.001786 0 0 FBN3 84467 broad.mit.edu 37 19 8175966 8175966 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:8175966T>G uc002mjf.3 - 31 4203 c.4186A>C c.(4186-4188)Acc>Ccc p.T1396P NM_032447 NP_115823 Q75N90 FBN3_HUMAN Homo sapiens fibrillin 3 (FBN3), mRNA. 1396 EGF-like 21; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 TGGTCCTCGGTGGGGTCAAAG 0.657000 7 5 0 0 0.000602 0 0 MYH15 22989 broad.mit.edu 37 3 108224661 108224661 + Nonsense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:108224661C>T uc003dxa.1 - 2 221 c.164G>A c.(163-165)tGg>tAg p.W55* NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN Homo sapiens myosin, heavy chain 15 (MYH15), mRNA. 55 Myosin head-like. myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 ATCAGGAATCCAGCATTTCTT 0.363000 46 22 0 0 0.003954 0 0 STK36 27148 broad.mit.edu 37 2 219538446 219538446 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:219538446C>T uc002viu.3 + 2 462 c.183C>T c.(181-183)ccC>ccT p.P61P STK36_uc002viv.3_Silent_p.P61P|RNF25_uc002vit.3_5'Flank|RNF25_uc010fvw.3_5'Flank NM_015690 NP_056505 Q9NRP7 STK36_HUMAN Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA. 61 Protein kinase. cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) TGCGGCATCCCAACATTGTGC 0.498000 19 15 0 0 0.004007 0 0 SEMA3F 6405 broad.mit.edu 37 3 50224101 50224101 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:50224101C>T uc003cyj.3 + 17 2067 c.1869C>T c.(1867-1869)ttC>ttT p.F623F SEMA3F_uc003cyk.3_Silent_p.F592F NM_004186 NP_004177 Q13275 SEM3F_HUMAN Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F (SEMA3F), mRNA. 623 Ig-like C2-type. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) GCGCAGCCTTCCTTGAGTGCC 0.627000 17 5 0 0 0.000602 0 0 CCDC122 160857 broad.mit.edu 37 13 44433893 44433893 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:44433893T>C uc010tfn.1 - 3 669 c.470A>G c.(469-471)gAt>gGt p.D157G CCDC122_uc010acf.3_Missense_Mutation_p.D157G NM_144974 NP_659411 Q5T0U0 CC122_HUMAN Homo sapiens coiled-coil domain containing 122 (CCDC122), mRNA. 157 endometrium(1)|large_intestine(2)|lung(5)|stomach(1) 9 Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128) TTTAACAAAATCTCGCTTTTC 0.318000 41 27 0 0 0.006320 0 0 DZANK1 55184 broad.mit.edu 37 20 18396034 18396034 + Silent SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:18396034G>T uc010zsa.2 - 10 1280 c.1071C>A c.(1069-1071)tcC>tcA p.S357S DZANK1_uc010zrz.2_5'Flank|DZANK1_uc002wqp.4_Intron|DZANK1_uc002wqr.4_Non-coding_Transcript|DZANK1_uc002wqs.4_Silent_p.S224S|DZANK1_uc002wqq.4_Silent_p.S338S|DZANK1_uc002wqu.1_Non-coding_Transcript|DZANK1_uc010gct.1_Non-coding_Transcript NM_001099407 NP_001092877 Q9NVP4 CT012_HUMAN Homo sapiens double zinc ribbon and ankyrin repeat domains 1 (DZANK1), mRNA. 165 intracellular zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10) 19 ATCTGTAGCAGGAAATGGTCC 0.512000 26 16 8.28177e-16 1.04044e-15 0.007413 1 0 LRRC66 339977 broad.mit.edu 37 4 52860601 52860601 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:52860601G>A uc003gzi.3 - 3 2594 c.2587C>T c.(2587-2589)Ccc>Tcc p.P863S NM_001024611 NP_001019782 Q68CR7 LRC66_HUMAN Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA. 863 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 GGATCTGAGGGAACTTCAGCA 0.378000 22 20 0 0 0.002299 0 0 NTRK3 4916 broad.mit.edu 37 15 88423632 88423632 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:88423632G>A uc002bme.2 - 18 2509 c.2203C>T c.(2203-2205)Cgc>Tgc p.R735C NTRK3_uc002bmh.2_Missense_Mutation_p.R713C|NTRK3_uc002bmf.2_Missense_Mutation_p.R721C|NTRK3_uc021sua.1_Missense_Mutation_p.R713C NM_001012338 NP_001012338 Q16288 NTRK3_HUMAN Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA. 735 Protein kinase. R -> F (in a lung large cell carcinoma sample; somatic mutation; requires 2 nucleotide substitutions). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity p.R721F(1) ETV6/NTRK3(238) breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2) 119 BRCA - Breast invasive adenocarcinoma(143;0.211) GGCATCCAGCGAATGGGGAGC 0.507000 T ETV6 """congenital fibrosarcoma, Secretory breast """ TSP Lung(13;0.10) 14 9 0 0 0.004482 0 0 ITGAV 3685 broad.mit.edu 37 2 187511431 187511431 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:187511431C>T uc002upq.3 + 12 1454 c.1178C>T c.(1177-1179)cCa>cTa p.P393L ITGAV_uc010frs.3_Missense_Mutation_p.P357L|ITGAV_uc010zfv.2_Missense_Mutation_p.P347L NM_002210 NP_002201 P06756 ITAV_HUMAN Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA. 393 ERK1 and ERK2 cascade|angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) ATTGCTGCTCCATATGGGGGT 0.443000 17 12 0 0 0.001855 0 0 LOC729020 729020 broad.mit.edu 37 10 105006395 105006395 + Silent SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:105006395A>G uc009xxi.2 + 0 752 c.642A>G c.(640-642)agA>agG p.R214R BC040734_uc001kwr.3_Intron NM_001143909 NP_001137381 Q2QD12 Q2QD12_HUMAN Homo sapiens rcRPE (LOC729020), mRNA. 214 carbohydrate metabolic process ribulose-phosphate 3-epimerase activity ACCTATTAAGAAATATTTGCT 0.423000 11 6 0 0 0.001984 0 0 IMPG2 50939 broad.mit.edu 37 3 100961713 100961713 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:100961713C>T uc003duq.2 - 13 3044 c.2841G>A c.(2839-2841)caG>caA p.Q947Q IMPG2_uc011bhe.2_Silent_p.Q810Q NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA. 947 SEA 2. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TTTCTAAGTTCTGGAACCCCG 0.423000 26 12 0 0 0.001855 0 0 HBG1 3047 broad.mit.edu 37 11 5275658 5275658 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:5275658T>G uc001mai.1 - 1 616 c.179A>C c.(178-180)aAa>aCa p.K60T HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.K60T NM_000559 NP_000550 P69891 HBG1_HUMAN Homo sapiens hemoglobin, gamma A (HBG1), mRNA. 60 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity|protein binding large_intestine(1)|lung(3)|skin(1) 5 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGCCTTGACTTTGGGGTTGCC 0.537000 52 18 0 0 0.001786 0 0 GAS6 2621 broad.mit.edu 37 13 114530088 114530089 + Missense_Mutation DNP CC TT TT TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr13:114530088_114530089CC>TT uc001vug.3 - 3 1512_1513 c.460_461GG>AA c.(460-462)gga>AAa p.G154K GAS6_uc001vud.3_Missense_Mutation_p.G453K|GAS6_uc001vuf.3_Missense_Mutation_p.G180K NM_001143946 NP_001137418 Q14393 GAS6_HUMAN Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 3, mRNA. 496 EGF-like 1; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) GGTGTCTTCTCCGTTCAGCCAG 0.579000 22 22 0 0 0.004672 0 0 CRB1 23418 broad.mit.edu 37 1 197390611 197390611 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:197390611G>A uc001gtz.3 + 5 1862 c.1653G>A c.(1651-1653)caG>caA p.Q551Q CRB1_uc010poz.2_Silent_p.Q482Q|CRB1_uc009wza.3_Silent_p.Q439Q|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Silent_p.Q551Q|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.Q32Q|CRB1_uc001gub.1_Silent_p.Q200Q NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 551 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TCAATAATCAGTCAAAGGTGC 0.458000 63 29 0 0 0.001786 0 0 PTH1R 5745 broad.mit.edu 37 3 46935487 46935487 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:46935487C>T uc003cqm.3 + 3 369 c.166C>T c.(166-168)Ctg>Ttg p.L56L PTH1R_uc021wxg.1_Silent_p.L56L NM_000316 NP_001171673 Q03431 PTH1R_HUMAN Homo sapiens parathyroid hormone 1 receptor (PTH1R), transcript variant 1, mRNA. 56 cytoplasm|integral to plasma membrane|nucleus parathyroid hormone receptor activity|peptide hormone binding|protein self-association breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(2)|stomach(1)|urinary_tract(2) 19 CAAGGAGGTCCTGCAGAGGCC 0.602000 19 8 0 0 0.006214 0 0 CHD2 1106 broad.mit.edu 37 15 93543789 93543789 + Silent SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:93543789G>T uc002bsp.3 + 31 4631 c.4056G>T c.(4054-4056)gtG>gtT p.V1352V CHD2_uc002bso.1_Silent_p.V1352V NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 1352 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAAACAAAGTGCCCAGGCTGA 0.423000 28 18 2.48551e-13 3.11581e-13 0.004990 1 0 PDE4DIP 9659 broad.mit.edu 37 1 144864142 144864142 + Missense_Mutation SNP C T T rs139404785 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:144864142C>T uc021ouh.1 - 35 6255 c.5953G>A c.(5953-5955)Gac>Aac p.D1985N NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.D1985N|PDE4DIP_uc001elx.4_Missense_Mutation_p.D1879N|PDE4DIP_uc001elv.4_Missense_Mutation_p.D992N|PDE4DIP_uc001ema.3_Missense_Mutation_p.D172N NM_001198834 NP_001185763 Q5VU43 MYOME_HUMAN Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA. 1985 cellular protein complex assembly Golgi apparatus|centrosome|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) TACCTGGAGTCGTTTTCCTGG 0.468000 T PDGFRB MPD 524 64 0 0 0.003610 0 0 TTN 7273 broad.mit.edu 37 2 179453660 179453660 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179453660C>T uc021vsy.1 - 252 55313 c.55088G>A c.(55087-55089)gGa>gAa p.G18363E MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G12058E|TTN_uc021vta.1_Missense_Mutation_p.G11991E|TTN_uc021vtb.1_Missense_Mutation_p.G11866E NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 19290 Fibronectin type-III 33. 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) ATATTCATTTCCTTCTATGAG 0.378000 12 6 0 0 0.001168 0 0 KCNJ3 3760 broad.mit.edu 37 2 155555424 155555424 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:155555424T>C uc002tyv.1 + 0 332 c.137T>C c.(136-138)tTc>tCc p.F46S KCNJ3_uc010zce.1_Missense_Mutation_p.F46S|KCNJ3_uc021vrh.1_Missense_Mutation_p.F46S NM_002239 NP_002230 P48549 IRK3_HUMAN Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA. 46 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) CGGCAGCGGTTCGTGGACAAG 0.642000 26 10 0 0 0.000978 0 0 ZNF831 128611 broad.mit.edu 37 20 57828080 57828080 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:57828080C>T uc002yan.3 + 3 4075 c.4075C>T c.(4075-4077)Cct>Tct p.P1359S NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN Homo sapiens zinc finger protein 831 (ZNF831), mRNA. 1359 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) AGAATCACCTCCTTGTTGTGG 0.448000 22 13 0 0 0.001368 0 0 DUXA 503835 broad.mit.edu 37 19 57670564 57670564 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:57670564C>T uc002qoa.1 - 2 308 c.263G>A c.(262-264)gGg>gAg p.G88E NM_001012729 NP_001012747 A6NLW8 DUXA_HUMAN Homo sapiens double homeobox A (DUXA), mRNA. 88 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 17 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123) TTGATCTTGCCCCTGGCTCTG 0.458000 41 25 0 0 0.001786 0 0 FAM115A 9747 broad.mit.edu 37 7 143573477 143573478 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:143573477_143573478GG>AA uc003wdo.2 - 1 357_358 c.224_225CC>TT c.(223-225)ccc>cTT p.P75L FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.P75L NM_014719 NP_001193870 Q9Y4C2 F115A_HUMAN Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA. 75 NS(1)|endometrium(1)|lung(5) 7 Melanoma(164;0.0903) TCAGGAGAAAGGGCGTGAGCTG 0.609000 17 7 0 0 0.004672 0 0 CFH 3075 broad.mit.edu 37 1 196883701 196883701 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:196883701G>A uc001gtp.3 + 7 1394 c.1257G>A c.(1255-1257)ttG>ttA p.L419L CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Silent_p.L418L|CFH_uc001gto.3_Silent_p.L172L NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 777 Sushi 7. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 ATGACACATTGGACTACGAAT 0.398000 24 17 0 0 0.001216 0 0 COBLL1 22837 broad.mit.edu 37 2 165551322 165551322 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:165551322G>A uc002ucp.3 - 11 2916 c.2694C>T c.(2692-2694)gcC>gcT p.A898A COBLL1_uc002ucq.3_Silent_p.A860A|COBLL1_uc010zcw.2_Silent_p.A965A|COBLL1_uc010zcx.2_Silent_p.A906A|COBLL1_uc002ucn.3_Silent_p.A326A|COBLL1_uc002uco.3_Silent_p.A629A NM_014900 NP_055715 Q53SF7 COBL1_HUMAN Homo sapiens COBL-like 1 (COBLL1), mRNA. 936 central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 47 GTTTGGCCTGGGCATTTGAAG 0.433000 26 18 0 0 0.006122 0 0 STAB1 23166 broad.mit.edu 37 3 52539146 52539146 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:52539146C>T uc003dej.3 + 12 1579 c.1505C>T c.(1504-1506)cCt>cTt p.P502L STAB1_uc003dei.1_Missense_Mutation_p.P502L NM_015136 NP_055951 Q9NY15 STAB1_HUMAN Homo sapiens stabilin 1 (STAB1), mRNA. 502 cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TCTGGGACCCCTGGGGATCCC 0.622000 52 19 0 0 0.001882 0 0 ARMCX1 51309 broad.mit.edu 37 X 100808374 100808374 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:100808374C>T uc022cak.1 + 0 461 c.461C>T c.(460-462)cCc>cTc p.P154L ARMCX1_uc004ehv.3_Missense_Mutation_p.P154L|ARMCX1_uc004ehw.3_Missense_Mutation_p.P154L NM_016608 NP_057692 Q9P291 ARMX1_HUMAN Homo sapiens armadillo repeat containing, X-linked 1 (ARMCX1), mRNA. 154 integral to membrane binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1) 19 GGCTGCCACCCCACCAGGAGT 0.622000 9 23 0 0 0.003954 0 0 KDM4D 55693 broad.mit.edu 37 11 94731693 94731693 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:94731693C>T uc021qow.1 + 0 1157 c.1157C>T c.(1156-1158)cCt>cTt p.P386L KDM4D_uc001pfe.3_Missense_Mutation_p.P386L NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA. 386 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CGGCATTCCCCTTGGCCTATG 0.642000 11 6 0 0 0.001984 0 0 FLNC 2318 broad.mit.edu 37 7 128490508 128490508 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:128490508C>T uc003vnz.4 + 31 5578 c.5369C>T c.(5368-5370)cCc>cTc p.P1790L FLNC_uc003voa.4_Missense_Mutation_p.P1757L NM_001458 NP_001449 Q14315 FLNC_HUMAN Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA. 1790 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CTGGTCATCCCCTTCGCGGTG 0.612000 58 41 0 0 0.002852 0 0 NCKAP5L 57701 broad.mit.edu 37 12 50190432 50190433 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:50190432_50190433GG>AA uc009zlk.2 - 7 1412_1413 c.1210_1211CC>TT c.(1210-1212)ccc>TTc p.P404F NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR NM_001037806 NP_001032895 Q9HCH0 NCK5L_HUMAN Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA. 400 Pro-rich. central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2) 18 GCTAAGGAAGGGGAGGGGCCCC 0.629000 19 4 0 0 0.004672 0 0 NARG2 79664 broad.mit.edu 37 15 60758807 60758807 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:60758807G>A uc002agp.3 - 4 749 c.514C>T c.(514-516)Cgt>Tgt p.R172C NARG2_uc002ago.3_Missense_Mutation_p.R35C|NARG2_uc010bgk.3_Missense_Mutation_p.R172C|NARG2_uc002agr.1_Missense_Mutation_p.R172C NM_024611 NP_001018099 Q659A1 NARG2_HUMAN Homo sapiens NMDA receptor regulated 2 (NARG2), transcript variant 1, mRNA. 172 nucleus breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 32 GTGAAGAGACGGGCATCATCA 0.368000 35 18 0 0 0.001882 0 0 ZIK1 284307 broad.mit.edu 37 19 58102464 58102464 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:58102464C>T uc002qpg.3 + 3 1382 c.1285C>T c.(1285-1287)Cat>Tat p.H429Y ZIK1_uc002qph.3_Missense_Mutation_p.H374Y|ZIK1_uc002qpi.3_Missense_Mutation_p.H416Y|ZIK1_uc002qpj.3_Missense_Mutation_p.H326Y NM_001010879 NP_001010879 Q3SY52 ZIK1_HUMAN Homo sapiens zinc finger protein interacting with K protein 1 homolog (mouse) (ZIK1), mRNA. 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) CCGGAGAATTCATACTGGAGC 0.463000 18 4 0 0 0.000248 0 0 AOAH 313 broad.mit.edu 37 7 36657942 36657942 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:36657942G>A uc022abu.1 - 9 1113 c.712C>T c.(712-714)Cca>Tca p.P238S AOAH_uc003tfh.4_Missense_Mutation_p.P238S|AOAH_uc011kba.2_Missense_Mutation_p.P206S NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 238 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 CCATCTTTTGGATCGACACCC 0.318000 26 17 0 0 0.001216 0 0 RP1L1 94137 broad.mit.edu 37 8 10467030 10467030 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr8:10467030C>T uc003wtc.3 - 3 4807 c.4578G>A c.(4576-4578)acG>acA p.T1526T NM_178857 NP_849188 A6NKC6 A6NKC6_HUMAN Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA. 1526 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) AGGCCTTCTCCGTCTTCTTCA 0.662000 9 12 0 0 0.003163 0 0 ABCC2 1244 broad.mit.edu 37 10 101578582 101578582 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:101578582C>T uc001kqf.2 + 17 2446 c.2307C>T c.(2305-2307)atC>atT p.I769I NM_000392 NP_000383 Q92887 MRP2_HUMAN Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 2 (ABCC2), mRNA. 769 ABC transporter 1. apical plasma membrane|integral to plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 67 Colorectal(252;0.234) Epithelial(162;2.77e-10)|all cancers(201;2.47e-08) Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) AGCAGCGGATCAGCCTGGCCA 0.413000 29 14 0 0 0.004007 0 0 ADAM22 53616 broad.mit.edu 37 7 87759715 87759715 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:87759715C>T uc003ujn.3 + 9 981 c.766C>T c.(766-768)Cgg>Tgg p.R256W ADAM22_uc003ujj.2_Missense_Mutation_p.R256W|ADAM22_uc003ujk.2_Missense_Mutation_p.R256W|ADAM22_uc003ujl.2_Missense_Mutation_p.R256W|ADAM22_uc003ujm.3_Missense_Mutation_p.R256W|ADAM22_uc003ujo.3_Missense_Mutation_p.R256W|ADAM22_uc003ujp.1_Missense_Mutation_p.R308W NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 256 Peptidase M12B. cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding p.H255H(1) endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) TAAAAAACATCGGCTTTCCGT 0.368000 31 20 0 0 0.001882 0 0 COL1A1 1277 broad.mit.edu 37 17 48266782 48266782 + Missense_Mutation SNP C T T rs72653155 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:48266782C>T uc002iqm.3 - 38 2911 c.2785G>A c.(2785-2787)Ggc>Agc p.G929S NM_000088 NP_000079 P02452 CO1A1_HUMAN Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA. 929 Triple-helical region. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) CCAGCAGGGCCAGGGGGACCA 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 60 12 0 0 0.001855 0 0 TTLL5 23093 broad.mit.edu 37 14 76149932 76149932 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:76149932G>A uc010ask.2 + 4 579 c.304G>A c.(304-306)Gga>Aga p.G102R TTLL5_uc001xrw.2_Missense_Mutation_p.G102R|TTLL5_uc001xrx.3_Missense_Mutation_p.G102R|TTLL5_uc001xrv.3_Missense_Mutation_p.G102R NM_015072 NP_055887 Q6EMB2 TTLL5_HUMAN Homo sapiens tubulin tyrosine ligase-like family, member 5 (TTLL5), mRNA. 102 TTL. protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) AATGTGGACAGGATCCCACCT 0.458000 22 25 0 0 0.007291 0 0 LELP1 149018 broad.mit.edu 37 1 153177279 153177279 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:153177279G>A uc001fbl.3 + 1 206 c.96G>A c.(94-96)caG>caA p.Q32Q LELP1_uc021ozv.1_Silent_p.Q32Q NM_001010857 NP_001010857 Q5T871 LELP1_HUMAN Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA. 32 Cys/Pro-rich. NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1) 19 all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) CCAAATGCCAGCCCAGCTGTT 0.498000 38 24 0 0 0.003330 0 0 CD1B 910 broad.mit.edu 37 1 158299295 158299295 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:158299295C>T uc001frx.3 - 3 859 c.751G>A c.(751-753)Ggg>Agg p.G251R CD1B_uc001frw.3_Intron NM_001764 NP_001755 P29016 CD1B_HUMAN Homo sapiens CD1b molecule (CD1B), mRNA. 251 Ig-like. antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding p.G251W(2) breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGGATGTCCCCTAGCTGAGTG 0.607000 42 21 0 0 0.002780 0 0 C14orf133 63894 broad.mit.edu 37 14 77893965 77893965 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:77893965C>T uc001xtt.2 - 20 1893 c.1476G>A c.(1474-1476)aaG>aaA p.K492K C14orf133_uc001xtu.2_Silent_p.K492K|C14orf133_uc001xtv.2_Silent_p.K492K|C14orf133_uc021rwu.1_Silent_p.K492K|C14orf133_uc010tvj.2_Silent_p.K443K NM_022067 NP_071350 Q9H9C1 VIPAR_HUMAN Homo sapiens chromosome 14 open reading frame 133 (C14orf133), transcript variant 2, mRNA. 492 endosome to lysosome transport|intracellular protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent early endosome|late endosome|recycling endosome protein binding Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) CCACTTAATTCTTCCATCGAA 0.453000 10 13 0 0 0.003163 0 0 ZNF248 57209 broad.mit.edu 37 10 38121310 38121311 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:38121310_38121311GG>AA uc001izd.1 - 5 1471_1472 c.972_973CC>TT c.(970-975)ctccgt>ctTTgt p.R325C ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.3_Intron|ZNF248_uc001izc.3_Intron|ZNF248_uc010qeu.1_Missense_Mutation_p.R325C NM_021045 NP_066383 Q8NDW4 ZN248_HUMAN Homo sapiens zinc finger protein 248 (ZNF248), mRNA. 325 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TTATATTCACGGAGAATCTTTC 0.356000 38 20 0 0 0.004672 0 0 POTEM 641455 broad.mit.edu 37 14 20019959 20019959 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr14:20019959C>T uc001vwc.3 - 0 314 c.262G>A c.(262-264)Gac>Aac p.D88N POTEM_uc001vwb.3_Non-coding_Transcript NM_001145442 NP_001138914 A6NI47 POTEM_HUMAN Homo sapiens POTE ankyrin domain family, member M (POTEM), mRNA. 88 p.D88D(1) endometrium(4)|kidney(1)|lung(4) 9 ATAGCAGAGTCGTCGTGGTCT 0.627000 287 20 0 0 0.007291 0 0 SORBS2 8470 broad.mit.edu 37 4 186544450 186544450 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:186544450C>T uc003iyg.3 - 12 2495 c.2463G>A c.(2461-2463)cgG>cgA p.R821R SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.R807R|SORBS2_uc003iyl.3_Silent_p.R707R|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.R611R|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 707 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TTTTTTTCCTCCGGAAAGGCA 0.468000 90 46 0 0 0.003610 0 0 AGMO 392636 broad.mit.edu 37 7 15470631 15470631 + Splice_Site SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:15470631C>T uc003stb.1 - 4 683 c.513_splice c.e4+1 p.W171_splice NM_001004320 NP_001004320 Q6ZNB7 ALKMO_HUMAN Homo sapiens alkylglycerol monooxygenase (AGMO), mRNA. 171 ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process endoplasmic reticulum membrane|integral to membrane glyceryl-ether monooxygenase activity|iron ion binding breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2) 42 ACAACTTACCCAGGAAGTATA 0.338000 29 10 0 0 0.000673 0 0 TTN 7273 broad.mit.edu 37 2 179634502 179634502 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:179634502G>A uc021vsy.1 - 36 9031 c.8806C>T c.(8806-8808)Cat>Tat p.H2936Y TTN_uc021vsz.1_Missense_Mutation_p.H2890Y|TTN_uc021vta.1_Missense_Mutation_p.H2890Y|TTN_uc021vtb.1_Missense_Mutation_p.H2890Y|TTN_uc002unb.2_Missense_Mutation_p.H2936Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2936 Ig-like 16. 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) ATCAGCTGATGGAGTTTTCCC 0.478000 110 49 0 0 0.003610 0 0 ERMN 57471 broad.mit.edu 37 2 158178034 158178034 + Nonsense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:158178034G>A uc002tzi.3 - 3 798 c.643C>T c.(643-645)Cga>Tga p.R215* ERMN_uc010zcj.2_Nonsense_Mutation_p.R96*|ERMN_uc002tzh.3_Nonsense_Mutation_p.R202*|ERMN_uc010zck.2_Nonsense_Mutation_p.R182* NM_001009959 NP_065762 Q8TAM6 ERMIN_HUMAN Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA. 202 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 TCTATCACTCGAACTtcatct 0.383000 52 29 0 0 0.006320 0 0 MCHR1 2847 broad.mit.edu 37 22 41077071 41077071 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:41077071G>A uc003ayz.3 + 1 676 c.408G>A c.(406-408)aaG>aaA p.K136K MCHR1_uc003aza.3_Silent_p.K25K NM_005297 NP_005288 Q99705 MCHR1_HUMAN Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA. 136 elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway integral to plasma membrane|nonmotile primary cilium neuropeptide receptor activity endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1) 20 CGGTCGTGAAGAAGTCCAAGC 0.542000 41 23 0 0 0.003330 0 0 KALRN 8997 broad.mit.edu 37 3 124385441 124385441 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:124385441G>A uc003ehg.3 + 45 6615 c.6488G>A c.(6487-6489)gGa>gAa p.G2163E KALRN_uc003ehi.3_Missense_Mutation_p.G504E|KALRN_uc003ehk.3_Missense_Mutation_p.G466E|KALRN_uc011bjz.2_Missense_Mutation_p.G255E NM_001024660 NP_001019831 O60229 KALRN_HUMAN Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA. 2162 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 CTCAGGAAGGGATCCCTCACC 0.532000 56 21 0 0 0.004656 0 0 KCNS1 3787 broad.mit.edu 37 20 43723761 43723761 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:43723761C>T uc002xnc.3 - 4 1728 c.1331G>A c.(1330-1332)gGg>gAg p.G444E KCNS1_uc002xnd.3_Missense_Mutation_p.G444E NM_002251 NP_002242 Q96KK3 KCNS1_HUMAN Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 1 (KCNS1), mRNA. 444 voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity|protein binding endometrium(1)|lung(3)|ovary(1)|stomach(1) 6 Myeloproliferative disorder(115;0.0122) CAGGATGCCCCCTAGGATGCA 0.622000 22 17 0 0 0.004990 0 0 MAPK7 5598 broad.mit.edu 37 17 19285703 19285703 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:19285703C>T uc002gvn.3 + 4 2473 c.2087C>T c.(2086-2088)gCc>gTc p.A696V MAPK7_uc002gvo.3_Missense_Mutation_p.A557V|MAPK7_uc002gvq.3_Missense_Mutation_p.A696V|MAPK7_uc002gvp.3_Missense_Mutation_p.A696V|DM110819_uc010vyt.1_5'Flank NM_139033 NP_620601 Q13164 MK07_HUMAN Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA. 696 May not be required for kinase activity; required to stimulate MEF2C activity (By similarity). MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cell cycle|cell differentiation|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 30 all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206) CCCCCAGACGCCGGGGGAGCC 0.637000 15 20 0 0 0.002780 0 0 SH3BP5 9467 broad.mit.edu 37 3 15297671 15297671 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr3:15297671C>T uc003bzp.1 - 8 1479 c.1290G>A c.(1288-1290)cgG>cgA p.R430R SH3BP5_uc003bzq.1_Silent_p.R273R|SH3BP5_uc003bzr.1_Silent_p.R273R|AL133111_uc003bzo.1_Non-coding_Transcript NM_004844 NP_001018009 O60239 3BP5_HUMAN Homo sapiens SH3-domain binding protein 5 (BTK-associated) (SH3BP5), transcript variant 1, mRNA. 430 intracellular signal transduction mitochondrion SH3 domain binding|protein kinase inhibitor activity p.R430L(1) NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1) 12 GCTGCTTCATCCGGTTCTCCA 0.552000 20 20 0 0 0.001523 0 0 GKAP1 80318 broad.mit.edu 37 9 86383826 86383826 + Silent SNP A G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:86383826A>G uc004amy.3 - 7 1141 c.645T>C c.(643-645)gaT>gaC p.D215D GKAP1_uc004amz.3_Intron|GKAP1_uc011lsu.1_Non-coding_Transcript NM_025211 NP_079487 Q5VSY0 GKAP1_HUMAN Homo sapiens G kinase anchoring protein 1 (GKAP1), transcript variant 1, mRNA. 215 signal transduction Golgi apparatus endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2) 14 TATGAACATCATCTTCCAGTC 0.333000 26 14 0 0 0.001855 0 0 AOAH 313 broad.mit.edu 37 7 36726344 36726344 + Silent SNP C T T rs145856572 byFrequency TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:36726344C>T uc022abu.1 - 1 584 c.183G>A c.(181-183)acG>acA p.T61T AOAH_uc003tfh.4_Silent_p.T61T|AOAH_uc011kba.2_Intron NM_001177506 NP_001170977 P28039 AOAH_HUMAN Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA. 61 Saposin B-type. inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3) 41 AGGCCTGGACCGTCGAGTTGT 0.512000 25 13 0 0 0.004007 0 0 ZMYM6 9204 broad.mit.edu 37 1 35477575 35477576 + Missense_Mutation DNP GG AA AA TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:35477575_35477576GG>AA uc001byh.3 - 7 1205_1206 c.977_978CC>TT c.(976-978)acc>aTT p.T326I ZMYM6_uc001byf.1_Missense_Mutation_p.T326I|ZMYM6_uc010oht.2_Missense_Mutation_p.T229I|ZMYM6_uc009vup.3_Missense_Mutation_p.T132I|ZMYM6_uc009vuq.1_Missense_Mutation_p.T326I|ZMYM6_uc009vur.1_Missense_Mutation_p.T132I NM_007167 NP_009098 O95789 ZMYM6_HUMAN Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA. 326 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1) 44 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13) GGATTGCTGAGGTTTTACAACT 0.376000 30 7 0 0 0.004672 0 0 CYP2C8 1558 broad.mit.edu 37 10 96802811 96802811 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:96802811G>A uc001kkb.3 - 6 1080 c.985C>T c.(985-987)Cat>Tat p.H329Y CYP2C8_uc010qoa.2_Missense_Mutation_p.H259Y|CYP2C8_uc010qoc.2_Missense_Mutation_p.H227Y|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.H243Y|CYP2C8_uc021pwl.1_Missense_Mutation_p.H259Y|CYP2C8_uc010qod.1_Missense_Mutation_p.H243Y NM_000770 NP_000761 P10632 CP2C8_HUMAN Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA. 329 exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3) 21 Colorectal(252;0.0397) all cancers(201;6.21e-05) Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198) CCAATTACATGATCAATCTCT 0.443000 34 9 0 0 0.000673 0 0 TOM1 10043 broad.mit.edu 37 22 35742938 35742938 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr22:35742938G>A uc003ann.3 + 13 1425 c.1300G>A c.(1300-1302)Gag>Aag p.E434K TOM1_uc011ami.2_Missense_Mutation_p.E401K|TOM1_uc003anp.3_Missense_Mutation_p.E434K|TOM1_uc011aml.2_Missense_Mutation_p.E389K|TOM1_uc011amk.2_Missense_Mutation_p.E396K|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_Missense_Mutation_p.E277K NM_005488 NP_005479 O60784 TOM1_HUMAN Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA. 434 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2) 19 TGATGCGGAAGAGCCTAAGGG 0.667000 43 13 0 0 0.004990 0 0 FOXD4L5 653427 broad.mit.edu 37 9 70177111 70177111 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:70177111C>T uc010moc.3 - 0 1705 c.873G>A c.(871-873)gcG>gcA p.A291A NM_001126334 NP_001119806 Q5VV16 FX4L5_HUMAN Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA. 291 axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(5)|lung(2) 7 GTGCCGGGGTCGCCAGGTCCG 0.667000 77 12 0 0 0.004656 0 0 CPNE1 8904 broad.mit.edu 37 20 34220449 34220449 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:34220449G>A uc010zvj.2 - 2 681 c.314C>T c.(313-315)tCc>tTc p.S105F CPNE1_uc002xde.3_Missense_Mutation_p.S100F|CPNE1_uc002xdf.3_Missense_Mutation_p.S100F|CPNE1_uc002xdi.3_Missense_Mutation_p.S100F|CPNE1_uc002xdj.3_Missense_Mutation_p.S100F|CPNE1_uc002xdl.3_Missense_Mutation_p.S100F|CPNE1_uc002xdm.3_Missense_Mutation_p.S100F|CPNE1_uc010gfk.2_Missense_Mutation_p.S100F|CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript NM_003915 NP_690905 Q99829 CPNE1_HUMAN Homo sapiens copine I (CPNE1), transcript variant 3, mRNA. 100 lipid metabolic process|vesicle-mediated transport calcium-dependent phospholipid binding|phosphatidylserine binding|transporter activity breast(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.00953) CTGTCCTAGGGAACACTCAGC 0.537000 56 26 0 0 0.002096 0 0 HSPA6 3310 broad.mit.edu 37 1 161495847 161495847 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:161495847C>T uc001gaq.3 + 0 1812 c.1399C>T c.(1399-1401)Cct>Tct p.P467S TRNA_Gly_uc021pdc.1_5'Flank NM_002155 NP_002146 P17066 HSP76_HUMAN Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA. 467 response to unfolded protein ATP binding endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2) 21 all_cancers(52;4.89e-16)|all_hematologic(112;0.0207) BRCA - Breast invasive adenocarcinoma(70;0.00376) CAGTGGCATCCCTCCTGCCCC 0.567000 31 26 0 0 0.005443 0 0 KCNK1 3775 broad.mit.edu 37 1 233802523 233802523 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:233802523G>A uc010pxo.1 + 1 706 c.538G>A c.(538-540)Gcc>Acc p.A180T NM_002245 NP_002236 O00180 KCNK1_HUMAN Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA. 180 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) GCAGGTGGTGGCCATCGTCCA 0.607000 16 19 0 0 0.001882 0 0 KCNH6 81033 broad.mit.edu 37 17 61600840 61600840 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:61600840C>T uc002jay.3 + 0 146 c.66C>T c.(64-66)ttC>ttT p.F22F KCNH6_uc002jax.1_Silent_p.F22F|KCNH6_uc010wpl.2_5'UTR|KCNH6_uc010wpm.2_Silent_p.F22F|KCNH6_uc002jaz.1_Silent_p.F22F NM_030779 NP_110406 Q9H252 KCNH6_HUMAN Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA. 22 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TCCGCAAGTTCGAGGGCCAAA 0.632000 26 8 0 0 0.004482 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450194 105450194 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:105450194G>A uc022cca.1 + 0 769 c.769G>A c.(769-771)Gag>Aag p.E257K MUM1L1_uc004emg.2_Missense_Mutation_p.E257K|MUM1L1_uc004emf.2_Missense_Mutation_p.E257K NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 257 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 TTTGAAAGAAGAGAGCGAGGA 0.453000 4 8 0 0 0.003080 0 0 FAM5B 57795 broad.mit.edu 37 1 177226424 177226424 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:177226424G>A uc001glf.3 + 3 885 c.573G>A c.(571-573)ctG>ctA p.L191L FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.L86L NM_021165 NP_066988 Q9C0B6 FAM5B_HUMAN Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA. 191 extracellular region breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 94 CTGTGTCCCTGGAGACCCTGC 0.562000 31 8 0 0 0.004482 0 0 OAT 4942 broad.mit.edu 37 10 126097393 126097393 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:126097393G>A uc001lhp.3 - 2 474 c.341C>T c.(340-342)gCt>gTt p.A114V OAT_uc001lhr.3_5'UTR|OAT_uc001lhq.3_Non-coding_Transcript NM_000274 NP_001165285 P04181 OAT_HUMAN Homo sapiens ornithine aminotransferase (OAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 114 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) ATTATAGAAAGCTCTAGATGT 0.368000 19 15 0 0 0.003163 0 0 MYH8 4626 broad.mit.edu 37 17 10309360 10309360 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr17:10309360C>T uc002gmm.2 - 20 2525 c.2430G>A c.(2428-2430)agG>agA p.R810R AK097500_uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA. 810 IQ. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATTGTTACCTCCTTTGCAACA 0.343000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 19 21 0 0 0.003330 0 0 HYDIN 54768 broad.mit.edu 37 GL000192.1 313522 313522 + RNA SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrGL000192.1:313522G>A uc010yij.1 - 5 c.724C>T HYDIN_uc021vdl.1_Non-coding_Transcript NM_017558 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 2, mRNA. breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGGTATTATTGAGGGAACATA 0.453000 22 13 0 0 0.004007 0 0 CEP78 84131 broad.mit.edu 37 9 80881427 80881427 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:80881427C>T uc004aky.4 + 15 2194 c.1918C>T c.(1918-1920)Cca>Tca p.P640S CEP78_uc004akx.2_Missense_Mutation_p.P623S|CEP78_uc010mpp.3_Missense_Mutation_p.P624S|CEP78_uc004akz.1_Missense_Mutation_p.P111S NM_001098802 NP_001092272 Q5JTW2 CEP78_HUMAN Homo sapiens centrosomal protein 78kDa (CEP78), transcript variant 1, mRNA. 623 G2/M transition of mitotic cell cycle centrosome|cytosol breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1) 21 AGTTTCTACTCCAGAGGGCTT 0.438000 36 18 0 0 0.001523 0 0 SPON1 10418 broad.mit.edu 37 11 14284296 14284296 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:14284296G>A uc001mle.3 + 15 2300 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K NM_006108 NP_006099 Q9HCB6 SPON1_HUMAN Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA. 679 TSP type-1 5. cell adhesion extracellular space|proteinaceous extracellular matrix protein binding NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 21 Epithelial(150;0.00898) CCAGTGGTCGGAATGTAACAA 0.532000 10 12 0 0 0.001368 0 0 MS4A2 2206 broad.mit.edu 37 11 59861437 59861437 + Splice_Site SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:59861437G>A uc001nop.3 + 6 640 c.538_splice c.e6-1 p.E180_splice MS4A2_uc009ymu.3_3'UTR|MS4A2_uc021qka.1_Splice_Site_p.E135_splice NM_000139 NP_000130 Q01362 FCERB_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA. 180 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) TGTTCAATAGGAAATTGTAGT 0.413000 23 7 0 0 0.004482 0 0 KIAA1210 57481 broad.mit.edu 37 X 118221261 118221261 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:118221261G>A uc004era.4 - 10 3932 c.3932C>T c.(3931-3933)tCc>tTc p.S1311F NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 1311 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 AGAAACAGGGGAGACTTTTTG 0.493000 34 59 0 0 0.003610 0 0 PAPPA 5069 broad.mit.edu 37 9 118982379 118982379 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:118982379C>T uc004bjn.3 + 4 2463 c.2082C>T c.(2080-2082)ttC>ttT p.F694F PAPPA_uc011lxp.1_Silent_p.F389F|PAPPA_uc011lxq.2_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA. 694 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.W693*(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGGAGTGGTTCCCACCTATAG 0.557000 59 24 0 0 0.003954 0 0 SYNPO2 171024 broad.mit.edu 37 4 119948008 119948008 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:119948008C>T uc010inb.3 + 2 680 c.484C>T c.(484-486)Ccg>Tcg p.P162S SYNPO2_uc010ina.3_Missense_Mutation_p.P162S|SYNPO2_uc003icm.4_Missense_Mutation_p.P162S|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Missense_Mutation_p.P90S NM_133477 NP_597734 Q9UMS6 SYNP2_HUMAN Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA. 162 Z disc|nucleus 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 AGAAACAGGCCCGAGCTACCA 0.552000 16 8 0 0 0.003080 0 0 LOC646214 646214 broad.mit.edu 37 15 21937970 21937970 + RNA SNP T A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:21937970T>A uc010tzj.1 - 0 c.2770A>T Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 pseudogene (LOC646214), non-coding RNA. ATGGAGATGATTTTATGCCTG 0.438000 352 30 0 0 0.003755 0 0 ERCC6 2074 broad.mit.edu 37 10 50691556 50691556 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:50691556G>A uc001jhs.4 - 8 1982 c.1828C>T c.(1828-1830)Cta>Tta p.L610L ERCC6_uc010qgr.2_5'UTR|ERCC6_uc001jhr.4_Silent_p.L10L NM_000124 NP_000115 Q03468 ERCC6_HUMAN Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA. 610 Helicase ATP-binding. base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|DNA binding|DNA-dependent ATPase activity|chromatin binding|helicase activity|protein C-terminus binding|protein N-terminus binding|protein complex binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TCTCGAATTAGTTTCTCCTGA 0.353000 Direct reversal of damage;Nucleotide excision repair (NER) 33 16 0 0 0.004990 0 0 FAT3 120114 broad.mit.edu 37 11 92531158 92531158 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr11:92531158C>T uc001pdj.4 + 8 4996 c.4979C>T c.(4978-4980)tCc>tTc p.S1660F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 1660 Cadherin 15. 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) GTGCGCATTTCCGTCACCATG 0.438000 TCGA Ovarian(4;0.039) 274 126 0 0 0.003610 0 0 FAM75C1 441452 broad.mit.edu 37 9 90536519 90536519 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:90536519G>A uc010mqi.3 + 3 1726 c.1697G>A c.(1696-1698)gGa>gAa p.G566E FAM75C1_uc004apq.4_Missense_Mutation_p.G549E NM_001145124 NP_001138596 Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA. AGTGACTCAGGAAGTGATTTA 0.517000 64 37 0 0 0.001951 0 0 NFATC2 4773 broad.mit.edu 37 20 50048876 50048876 + Missense_Mutation SNP T C C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:50048876T>C uc002xwd.3 - 8 2670 c.2450A>G c.(2449-2451)aAc>aGc p.N817S NFATC2_uc002xwc.3_Missense_Mutation_p.N817S|NFATC2_uc010zyv.2_Missense_Mutation_p.N598S|NFATC2_uc010zyw.2_Missense_Mutation_p.N598S|NFATC2_uc002xwe.3_Missense_Mutation_p.N797S|NFATC2_uc010zyx.2_Missense_Mutation_p.N797S|NFATC2_uc010zyy.2_Missense_Mutation_p.N598S|NFATC2_uc010zyz.2_Missense_Mutation_p.N598S NM_173091 NP_775114 Q13469 NFAC2_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA. 817 B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CAGCTGCTGGTTGGTGGGTGA 0.657000 43 28 0 0 0.002445 0 0 PLIN1 5346 broad.mit.edu 37 15 90213326 90213326 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:90213326C>T uc010upx.1 - 4 593 c.483G>A c.(481-483)gcG>gcA p.A161A PLIN1_uc002boh.2_Silent_p.A161A NM_001145311 NP_002657 O60240 PLIN1_HUMAN Homo sapiens perilipin 1 (PLIN1), transcript variant 2, mRNA. 161 triglyceride catabolic process lipid particle lipid binding p.A161V(1)|p.T160N(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2) 13 CAGCAAATTCCGCAGTGTCTC 0.632000 10 9 0 0 0.001368 0 0 ACSL1 2180 broad.mit.edu 37 4 185687120 185687120 + Silent SNP G T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr4:185687120G>T uc003iww.2 - 13 1578 c.1284C>A c.(1282-1284)gtC>gtA p.V428V ACSL1_uc011ckm.1_Silent_p.V257V|ACSL1_uc003iwt.1_Silent_p.V428V|ACSL1_uc003iwu.1_Silent_p.V428V|ACSL1_uc011ckn.1_Silent_p.V394V|ACSL1_uc003iws.1_5'UTR NM_001995 NP_001986 P33121 ACSL1_HUMAN Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA. 428 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCATCAGCCGGACTCTTCCGC 0.652000 31 13 2.32078e-09 2.89683e-09 0.003163 1 0 HERPUD1 9709 broad.mit.edu 37 16 56976092 56976092 + Silent SNP C T T rs34040285 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:56976092C>T uc002eke.1 + 6 1363 c.954C>T c.(952-954)ttC>ttT p.F318F HERPUD1_uc002ekf.1_Silent_p.F317F|HERPUD1_uc002ekg.1_Silent_p.F293F|HERPUD1_uc010cco.1_Missense_Mutation_p.S327F|HERPUD1_uc010ccp.1_Silent_p.F220F|HERPUD1_uc002ekh.1_Silent_p.F136F NM_014685 NP_055500 Q15011 HERP1_HUMAN Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA. 318 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 TTCAGAACTTCCCAAATGATG 0.488000 T ERG prostate 67 38 0 0 0.002222 0 0 MYOZ1 58529 broad.mit.edu 37 10 75391751 75391751 + Silent SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:75391751C>T uc001jur.3 - 5 1202 c.837G>A c.(835-837)ggG>ggA p.G279G NM_021245 NP_067068 Q9NP98 MYOZ1_HUMAN Homo sapiens myozenin 1 (MYOZ1), mRNA. 279 myofibril assembly nucleus|pseudopodium FATZ binding central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2) 12 Prostate(51;0.0112) CTACAGGCTCCCCAGAGCTCA 0.532000 23 9 0 0 0.006214 0 0 KCNMA1 3778 broad.mit.edu 37 10 78850220 78850220 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:78850220G>A uc001jxn.3 - 9 1449 c.1272C>T c.(1270-1272)ttC>ttT p.F424F KCNMA1_uc021ptu.1_Silent_p.F370F|KCNMA1_uc001jxj.2_Silent_p.F424F|KCNMA1_uc001jxk.1_Silent_p.F39F|KCNMA1_uc009xrt.1_Silent_p.F244F|KCNMA1_uc001jxl.1_Silent_p.F78F|KCNMA1_uc001jxo.3_Silent_p.F424F|KCNMA1_uc001jxm.3_Silent_p.F424F|KCNMA1_uc001jxq.3_Silent_p.F424F NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, alpha member 1 (KCNMA1), transcript variant 3, mRNA. 424 RCK N-terminal. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AGTCCTTCAGGAAGTTGGAAA 0.532000 53 23 0 0 0.006320 0 0 CYP3A7 1551 broad.mit.edu 37 7 99264624 99264624 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:99264624C>T uc003urq.3 - 4 485 c.383G>A c.(382-384)aGa>aAa p.R128K ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.R15K|CYP3A7_uc011kiy.2_Missense_Mutation_p.R118K|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron NM_000777 NP_000768 P24462 CP3A7_HUMAN Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA. 128 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) TGACCGTATTCTCTTCCATTC 0.388000 30 19 0 0 0.001882 0 0 AMPH 273 broad.mit.edu 37 7 38431555 38431555 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr7:38431555C>T uc003tgu.3 - 18 1888 c.1672G>A c.(1672-1674)Gaa>Aaa p.E558K AMPH_uc003tgv.3_Missense_Mutation_p.E516K|AMPH_uc003tgt.3_Missense_Mutation_p.E443K|AMPH_uc003tgw.1_Missense_Mutation_p.E581K|AMPH_uc010kxl.1_Non-coding_Transcript NM_001635 NP_001626 P49418 AMPH_HUMAN Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA. 558 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane p.E558K(2) breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 ATAGTTATTTCGTTTTCTCCT 0.597000 26 11 0 0 0.000978 0 0 AVPR1B 553 broad.mit.edu 37 1 206224448 206224448 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:206224448C>T uc001hds.2 + 0 166 c.8C>T c.(7-9)tCt>tTt p.S3F NM_000707 NP_000698 P47901 V1BR_HUMAN Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA. 3 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CTCATGGATTCTGGGCCTCTG 0.612000 146 73 0 0 0.003610 0 0 IL15RA 3601 broad.mit.edu 37 10 6005800 6005800 + Silent SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr10:6005800G>A uc021pmo.1 - 3 560 c.546C>T c.(544-546)gaC>gaT p.D182D IL15RA_uc010qau.2_Intron|IL15RA_uc021pmp.1_Intron|IL15RA_uc001iiv.3_Silent_p.D96D|IL15RA_uc001iiw.3_Silent_p.D60D|IL15RA_uc001iiy.3_Intron NM_001243539 NP_001230468 Q13261 I15RA_HUMAN Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA. 96 N -> T (in dbSNP:rs2228059). cell proliferation Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane cytokine receptor activity cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 5 CCAGGGCAGGGTCTCCTAGAG 0.537000 8 11 0 0 0.000978 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994681 140994681 + Missense_Mutation SNP T G G TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chrX:140994681T>G uc004fbt.3 + 3 1815 c.1491T>G c.(1489-1491)agT>agG p.S497R MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.S156R NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 497 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TTTTCCAGAGTTCCCCTGAGT 0.498000 HNSCC(15;0.026) 27 58 0 0 0.003610 0 0 ETAA1 54465 broad.mit.edu 37 2 67630890 67630890 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:67630890C>T uc002sdz.1 + 4 1215 c.1076C>T c.(1075-1077)tCc>tTc p.S359F NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA. 359 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGTGTGACTTCCTGTACTAAG 0.353000 36 14 0 0 0.003163 0 0 SLC6A17 388662 broad.mit.edu 37 1 110738249 110738249 + Missense_Mutation SNP G A A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr1:110738249G>A uc009wfq.3 + 9 1995 c.1534G>A c.(1534-1536)Gtc>Atc p.V512I NM_001010898 NP_001010898 Q9H1V8 S6A17_HUMAN Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA. 512 alanine transport|glycine transport|leucine transport|proline transport cell junction|integral to plasma membrane|synaptic vesicle membrane neurotransmitter:sodium symporter activity p.F511_R514del(2) breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 37 all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151) GCTGTTGTTCGTCCAGCGCTC 0.602000 31 17 0 0 0.004990 0 0 GABRP 2568 broad.mit.edu 37 5 170215659 170215659 + Missense_Mutation SNP C T T TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr5:170215659C>T uc003mau.3 + 1 238 c.40C>T c.(40-42)Ctc>Ttc p.L14F GABRP_uc011dev.2_Missense_Mutation_p.L14F NM_014211 NP_055026 O00591 GBRP_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA. 14 cell junction|chloride channel complex|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 29 Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193) Medulloblastoma(196;0.0109)|all_neural(177;0.0298) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) GTGTCTGAGTCTCTTCACTGA 0.557000 19 18 0 0 0.001882 0 0 FAM117B 150864 broad.mit.edu 37 2 203620370 203620370 + Frame_Shift_Del DEL T - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr2:203620370delT uc010zhx.2 + 4 1080 c.1070delT c.(1069-1071)attfs p.I357fs NM_173511 NP_775782 Q6P1L5 F117B_HUMAN Homo sapiens family with sequence similarity 117, member B (FAM117B), mRNA. 357 breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1) 17 GAAATAATAATTAAAGAGACT 0.368 --- 156 --- --- 76 --- CNTNAP3B 728577 broad.mit.edu 37 9 43844265 43844265 + Frame_Shift_Del DEL G - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:43844265delG uc004ada.2 + 9 2009 c.1599delG c.(1597-1599)gcgfs p.A533fs CNTNAP3B_uc004acz.2_Intron NM_001201380 NP_001188309 Q96NU0 CNT3B_HUMAN Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA. 533 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3) 10 AGCAGGGGGCGCTGGGGAGTT 0.542 --- 3 --- --- 3 --- PBX3 5090 broad.mit.edu 37 9 128692021 128692022 + Frame_Shift_Del DEL AT - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr9:128692021_128692022delAT uc004bqb.3 + 3 720_721 c.604_605delAT c.(604-606)atgfs p.M202fs PBX3_uc004bqc.3_Frame_Shift_Del_p.M21fs|PBX3_uc004bqd.3_Frame_Shift_Del_p.M21fs|PBX3_uc011lzw.2_Frame_Shift_Del_p.M127fs|PBX3_uc011lzx.2_Frame_Shift_Del_p.M113fs|PBX3_uc004bqe.3_Frame_Shift_Del_p.M89fs NM_006195 NP_001128250 P40426 PBX3_HUMAN Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA. 202 anterior compartment pattern formation|posterior compartment specification sequence-specific DNA binding transcription factor activity biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2) 24 GATTGAAAGAATGGTGGGCATC 0.396 --- 40 --- --- 28 --- EMG1 10436 broad.mit.edu 37 12 7080212 7080213 + Splice_Site INS - C C rs36063533 TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:7080212_7080213insC uc001qsh.4 + 1 269 c.126_splice c.e1+1 p.S42_splice PHB2_uc021quf.1_5'Flank|PHB2_uc021qug.1_5'Flank|PHB2_uc010sft.1_5'Flank|PHB2_uc010sfu.1_5'Flank|EMG1_uc009zfo.2_Non-coding_Transcript|EMG1_uc010sfv.1_Non-coding_Transcript NM_006331 NP_006322 Q92979 NEP1_HUMAN Homo sapiens EMG1 nucleolar protein homolog (S. cerevisiae) (EMG1), mRNA. 42 ribosomal small subunit biogenesis cytoplasm|nucleolus rRNA (pseudouridine) methyltransferase activity|rRNA binding GAGGCCGTAGTTTATTGTGGTG 0.569 --- 8 --- --- 4 --- STAB2 55576 broad.mit.edu 37 12 104031013 104031013 + Splice_Site DEL C - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr12:104031013delC uc001tjw.3 + 7 895 c.709_splice c.e7+1 p.P237_splice NM_017564 NP_060034 Q8WWQ8 STAB2_HUMAN Homo sapiens stabilin 2 (STAB2), mRNA. 237 EGF-like 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 AATACTGCGACCGTGAGTAGA 0.388 --- 34 --- --- 16 --- MAP1A 4130 broad.mit.edu 37 15 43817125 43817130 + In_Frame_Del DEL TCCCTC - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr15:43817125_43817130delTCCCTC uc001zrt.3 + 3 3921_3926 c.3454_3459delTCCCTC c.(3454-3459)tccctcdel p.SL1152del NM_002373 NP_002364 P78559 MAP1A_HUMAN Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA. 1152 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) AGATGCAGAATCCCTCTCTGTCCTCA 0.553 --- 36 --- --- 11 --- CDYL2 124359 broad.mit.edu 37 16 80638416 80638416 + Frame_Shift_Del DEL G - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr16:80638416delG uc002ffs.3 - 6 1495 c.1390delC c.(1390-1392)cggfs p.R464fs NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA. 464 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 AGGAAGCTCCGCACGAGGCAT 0.547 --- 84 --- --- 58 --- ZNF714 148206 broad.mit.edu 37 19 21300286 21300286 + Frame_Shift_Del DEL T - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr19:21300286delT uc002npo.4 + 4 1194 c.816delT c.(814-816)actfs p.T272fs ZNF714_uc002npl.3_Frame_Shift_Del_p.T118fs|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank NM_182515 NP_872321 Q96N38 ZN714_HUMAN Homo sapiens zinc finger protein 714 (ZNF714), mRNA. 273 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(3)|lung(11)|urinary_tract(2) 18 CAGCCCTTACTACACATAAGT 0.348 --- 4 --- --- 2 --- SAMHD1 25939 broad.mit.edu 37 20 35555605 35555612 + Frame_Shift_Del DEL GAGCAAGT - - TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx f14401f0-c522-4c0b-b496-bf696e643db7 fb4fbd0e-f121-41ab-9139-0f9b1ca23682 g.chr20:35555605_35555612delGAGCAAGT uc002xgh.2 - 5 869_876 c.669_676delACTTGCTC c.(667-678)ccacttgctcgcfs p.P223fs NM_015474 NP_056289 Q9Y3Z3 SAMH1_HUMAN Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA. 223 HD. defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity p.R226H(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) ACCTCCGGGCGAGCAAGTGGAATAAATC 0.351 --- 64 --- --- 7 ---