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 CA6 765 broad.mit.edu 37 1 9017326 9017326 + Silent SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:9017326G>T uc001apm.2 + 3 414 c.390G>T c.(388-390)GGG>GGT p.G130G CA6_uc009vmn.2_Silent_p.G70G NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 130 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) CCGTGGACGGGATCAGACATG 0.478 KIF17 57576 broad.mit.edu 37 1 21031239 21031239 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:21031239G>A uc001bdr.3 - 5 942 c.824C>T c.(823-825)TCG>TTG p.S275L KIF17_uc001bds.3_Missense_Mutation_p.S275L NM_020816 NP_065867 Q9P2E2 KIF17_HUMAN kinesin family member 17 isoform a 275 microtubule-based movement|protein transport cytoplasm|microtubule ATP binding ovary(3)|skin(1) 4 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) CACCAGCGCCGAGATGACATT 0.667 PTPRU 10076 broad.mit.edu 37 1 29641952 29641952 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:29641952G>A uc001bru.2 + 24 3436 c.3326G>A c.(3325-3327)GGC>GAC p.G1109D PTPRU_uc001brv.2_Missense_Mutation_p.G1105D|PTPRU_uc001brw.2_Missense_Mutation_p.G1099D|PTPRU_uc009vtq.2_Missense_Mutation_p.G1105D|PTPRU_uc009vtr.2_Missense_Mutation_p.G1096D NM_005704 NP_005695 Q92729 PTPRU_HUMAN protein tyrosine phosphatase, receptor type, U 1109 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway cell-cell junction|integral to plasma membrane beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(3)|ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 7 Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871) GAGTGTGAGGGCGTCGTGGAC 0.592 TIE1 7075 broad.mit.edu 37 1 43778820 43778820 + Nonsense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:43778820C>T uc001ciu.2 + 13 2021 c.1942C>T c.(1942-1944)CGA>TGA p.R648* TIE1_uc010okd.1_Nonsense_Mutation_p.R648*|TIE1_uc010oke.1_Nonsense_Mutation_p.R603*|TIE1_uc009vwq.2_Nonsense_Mutation_p.R604*|TIE1_uc010okf.1_Nonsense_Mutation_p.R293*|TIE1_uc010okg.1_Nonsense_Mutation_p.R293* NM_005424 NP_005415 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and 648 Fibronectin type-III 3.|Extracellular (Potential). mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity lung(3)|stomach(1)|salivary_gland(1)|ovary(1)|skin(1) 7 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) TCCAGCCCCCCGACACCTCCA 0.627 ATG4C 84938 broad.mit.edu 37 1 63282426 63282426 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:63282426G>A uc001dat.2 + 4 503 c.341G>A c.(340-342)AGA>AAA p.R114K ATG4C_uc001dau.2_Missense_Mutation_p.R114K NM_178221 NP_835739 Q96DT6 ATG4C_HUMAN APG4 autophagy 4 homolog C isoform 8 114 autophagic vacuole assembly|protein targeting to membrane|proteolysis cytosol|extracellular region cysteine-type endopeptidase activity ovary(1) 1 TGCACATTGAGAACTGGCCAG 0.378 NEGR1 257194 broad.mit.edu 37 1 72400786 72400786 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:72400786T>G uc001dfw.2 - 2 485 c.385A>C c.(385-387)ATG>CTG p.M129L NEGR1_uc001dfv.2_Missense_Mutation_p.M1L|NEGR1_uc010oqs.1_Missense_Mutation_p.M129L NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 129 Ig-like C2-type 1. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TGCACCTGCATTGTTCTGGGT 0.373 OLFM3 118427 broad.mit.edu 37 1 102302454 102302454 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:102302454A>G uc001duf.2 - 2 328 c.257T>C c.(256-258)CTT>CCT p.L86P OLFM3_uc001dug.2_Missense_Mutation_p.L66P|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 86 Potential. extracellular region ovary(2)|skin(1) 3 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) TAGTTGGCGAAGTTGCCTGCT 0.463 KIRREL 55243 broad.mit.edu 37 1 158057634 158057634 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:158057634G>A uc001frn.3 + 6 1155 c.751G>A c.(751-753)GAG>AAG p.E251K KIRREL_uc010pib.1_Missense_Mutation_p.E151K|KIRREL_uc009wsq.2_Missense_Mutation_p.E87K|KIRREL_uc001fro.3_Missense_Mutation_p.E49K NM_018240 NP_060710 Q96J84 KIRR1_HUMAN kin of IRRE like precursor 251 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane ovary(1) 1 all_hematologic(112;0.0378) AGCCAACCCCGAGATCTTGGG 0.597 OREG0013906 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OR10X1 128367 broad.mit.edu 37 1 158549035 158549035 + Missense_Mutation SNP A A G rs141124758 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:158549035A>G uc010pin.1 - 1 655 c.655T>C c.(655-657)TCA>CCA p.S219P NM_001004477 NP_001004477 Q8NGY0 O10X1_HUMAN olfactory receptor, family 10, subfamily X, 219 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CCAGACACTGAGATCAGTGTT 0.448 BAT2L2 23215 broad.mit.edu 37 1 171506531 171506531 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:171506531T>C uc010pmg.1 + 15 2683 c.2417T>C c.(2416-2418)CTG>CCG p.L806P BAT2L2_uc010pmh.1_5'Flank NM_015172 NP_055987 Q9Y520 PRC2C_HUMAN HBxAg transactivated protein 2 806 protein C-terminus binding 0 CCTCGTATGCTGTGGGGGTCA 0.458 TNN 63923 broad.mit.edu 37 1 175066623 175066623 + Silent SNP G G A rs147951218 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:175066623G>A uc001gkl.1 + 8 1772 c.1659G>A c.(1657-1659)CCG>CCA p.P553P TNN_uc010pmx.1_Intron NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 553 Fibronectin type-III 4. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CCTGGGACCCGGTACAGGCCA 0.542 NPHS2 7827 broad.mit.edu 37 1 179544780 179544780 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:179544780C>T uc001gmq.3 - 1 305 c.220G>A c.(220-222)GGC>AGC p.G74S NPHS2_uc009wxi.2_Missense_Mutation_p.G74S NM_014625 NP_055440 Q9NP85 PODO_HUMAN podocin 74 Cytoplasmic (Potential). excretion integral to plasma membrane protein binding 0 CCCTCCTCGCCGGAGCCTCGG 0.706 FAM5C 339479 broad.mit.edu 37 1 190234081 190234081 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:190234081G>A uc001gse.1 - 4 764 c.532C>T c.(532-534)CAT>TAT p.H178Y FAM5C_uc010pot.1_Missense_Mutation_p.H76Y NM_199051 NP_950252 Q76B58 FAM5C_HUMAN family with sequence similarity 5, member C 178 extracellular region lung(2)|ovary(1)|kidney(1)|skin(1) 5 Prostate(682;0.198) GCTAGCTGATGTAGCGTCTCC 0.468 PTPRC 5788 broad.mit.edu 37 1 198719705 198719705 + Silent SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:198719705A>C uc001gur.1 + 29 3331 c.3151A>C c.(3151-3153)AGA>CGA p.R1051R PTPRC_uc001gus.1_Silent_p.R1003R|PTPRC_uc001gut.1_Silent_p.R890R NM_002838 NP_002829 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1051 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1) 12 GATCTTCCAAAGAAAAGTCAA 0.388 CAMSAP1L1 23271 broad.mit.edu 37 1 200823978 200823978 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:200823978G>A uc001gvl.2 + 15 4160 c.3890G>A c.(3889-3891)GGT>GAT p.G1297D CAMSAP1L1_uc001gvk.2_Missense_Mutation_p.G1286D|CAMSAP1L1_uc001gvm.2_Missense_Mutation_p.G1270D NM_203459 NP_982284 Q08AD1 CAMP2_HUMAN calmodulin regulated spectrin-associated protein 1297 cytoplasm|microtubule protein binding ovary(2)|large_intestine(1)|pancreas(1) 4 CTGAACACGGGTGATAACGAG 0.343 LEFTY1 10637 broad.mit.edu 37 1 226075298 226075298 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:226075298C>T uc001hpo.2 - 3 608 c.538G>A c.(538-540)GTG>ATG p.V180M LEFTY1_uc010pvj.1_Missense_Mutation_p.R288H|LEFTY1_uc009xej.1_3'UTR NM_020997 NP_066277 O75610 LFTY1_HUMAN left-right determination, factor B 180 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) GCCTCGGTCACGTCGAAGGCC 0.697 OR2G2 81470 broad.mit.edu 37 1 247752495 247752495 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:247752495T>C uc010pyy.1 + 1 834 c.834T>C c.(832-834)TCT>TCC p.S278S NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 278 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 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;0.017) AGTTTGTTTCTCTCTTCTACA 0.363 OR2T12 127064 broad.mit.edu 37 1 248458004 248458004 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr1:248458004T>C uc010pzj.1 - 1 877 c.877A>G c.(877-879)AGT>GGT p.S293G NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S293N(1) skin(2)|ovary(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) TTGACCTCACTGTTCCTCACA 0.483 CUBN 8029 broad.mit.edu 37 10 16957886 16957886 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:16957886A>G uc001ioo.2 - 46 7196 c.7144T>C c.(7144-7146)TTT>CTT p.F2382L NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 2382 CUB 17. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TGAAGGTTAAAGTCTTCAAAA 0.423 GPR158 57512 broad.mit.edu 37 10 25861698 25861698 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:25861698T>G uc001isj.2 + 7 1695 c.1635T>G c.(1633-1635)ACT>ACG p.T545T NM_020752 NP_065803 Q5T848 GP158_HUMAN G protein-coupled receptor 158 precursor 545 Helical; Name=4; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(4)|large_intestine(2)|pancreas(1)|skin(1) 8 TTGGCTGGACTTCATCTGTGT 0.473 MASTL 84930 broad.mit.edu 37 10 27459533 27459533 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:27459533T>A uc001itm.2 + 8 2284 c.1645T>A c.(1645-1647)TTA>ATA p.L549I MASTL_uc001itl.2_Missense_Mutation_p.L549I|MASTL_uc009xkw.1_Missense_Mutation_p.L549I|MASTL_uc009xkx.1_RNA NM_032844 NP_116233 Q96GX5 GWL_HUMAN microtubule associated serine/threonine 549 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity stomach(1)|ovary(1)|lung(1) 3 GAGGGACTACTTAAGTTCTAG 0.318 KIAA1462 57608 broad.mit.edu 37 10 30316027 30316027 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:30316027G>C uc001iux.2 - 2 3109 c.3050C>G c.(3049-3051)GCG>GGG p.A1017G KIAA1462_uc001iuy.2_Intron|KIAA1462_uc001iuz.2_Missense_Mutation_p.A879G|KIAA1462_uc009xle.1_Missense_Mutation_p.A1017G NM_020848 NP_065899 Q9P266 K1462_HUMAN hypothetical protein LOC57608 1017 ovary(4) 4 CCGAGGGACCGCTTCACTTGG 0.572 ZNF25 219749 broad.mit.edu 37 10 38241394 38241394 + Silent SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:38241394A>G uc001ize.1 - 6 1137 c.1032T>C c.(1030-1032)TGT>TGC p.C344C ZNF25_uc001izf.1_Silent_p.C308C NM_145011 NP_659448 P17030 ZNF25_HUMAN zinc finger protein 25 344 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157) CACATTTATTACATTCAAAGG 0.408 ZNF33A 7581 broad.mit.edu 37 10 38345147 38345147 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:38345147G>A uc001izh.2 + 5 2270 c.2092G>A c.(2092-2094)GGG>AGG p.G698R ZNF33A_uc001izg.2_Missense_Mutation_p.G699R|ZNF33A_uc010qev.1_Missense_Mutation_p.G705R|ZNF33A_uc001izi.1_Intron NM_006974 NP_008905 Q06730 ZN33A_HUMAN zinc finger protein 33A isoform b 698 C2H2-type 14. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(1) 3 CAATGAATGTGGGAAATTCTT 0.383 STOX1 219736 broad.mit.edu 37 10 70644497 70644497 + Silent SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:70644497C>G uc001jos.2 + 3 1032 c.945C>G c.(943-945)CTC>CTG p.L315L STOX1_uc001jor.2_Intron|STOX1_uc009xpy.2_Intron|STOX1_uc001joq.2_Silent_p.L205L NM_001130161 NP_001123633 Q6ZVD7 STOX1_HUMAN storkhead box 1 isoform a 315 cytoplasm|nucleolus DNA binding kidney(1)|skin(1) 2 GTTTTAGTCTCTTATGGCGCA 0.463 AIFM2 84883 broad.mit.edu 37 10 71876494 71876494 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:71876494T>C uc010qjg.1 - 6 666 c.653A>G c.(652-654)AAT>AGT p.N218S AIFM2_uc001jqp.1_Missense_Mutation_p.N218S NM_032797 NP_116186 Q9BRQ8 AIFM2_HUMAN apoptosis-inducing factor (AIF)-like 218 apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis cytosol|integral to membrane|mitochondrial outer membrane DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding central_nervous_system(1) 1 TCGATACTCATTGAGAGGCAG 0.582 OREG0020234 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KCNMA1 3778 broad.mit.edu 37 10 78674744 78674744 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:78674744C>T uc001jxn.2 - 24 3143 c.2966G>A c.(2965-2967)CGT>CAT p.R989H KCNMA1_uc001jxj.2_Missense_Mutation_p.R935H|KCNMA1_uc001jxk.1_Missense_Mutation_p.R607H|KCNMA1_uc009xrt.1_Missense_Mutation_p.R780H|KCNMA1_uc001jxl.1_Missense_Mutation_p.R614H|KCNMA1_uc001jxo.2_Missense_Mutation_p.R972H|KCNMA1_uc001jxm.2_Missense_Mutation_p.R931H|KCNMA1_uc001jxq.2_Missense_Mutation_p.R934H NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 989 Cytoplasmic (Potential). 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 pancreas(2)|ovary(1) 3 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) GGATGGTTGACGTAACATCCC 0.483 ZMIZ1 57178 broad.mit.edu 37 10 81052014 81052014 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:81052014G>A uc001kaf.2 + 11 1430 c.858G>A c.(856-858)GCG>GCA p.A286A ZMIZ1_uc001kag.2_Silent_p.A162A|ZMIZ1_uc001kah.1_Silent_p.A162A NM_020338 NP_065071 Q9ULJ6 ZMIZ1_HUMAN retinoic acid induced 17 286 Ala-rich. transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding ovary(2)|breast(1)|skin(1) 4 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) ctgcagcagcggcagtggcag 0.502 CDHR1 92211 broad.mit.edu 37 10 85974024 85974024 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:85974024C>T uc001kcv.2 + 17 2227 c.2227C>T c.(2227-2229)CGG>TGG p.R743W CDHR1_uc001kcw.2_Intron|CDHR1_uc009xst.2_Missense_Mutation_p.R447W|CDHR1_uc001kcx.2_Missense_Mutation_p.R57W NM_033100 NP_149091 Q96JP9 CDHR1_HUMAN protocadherin 21 precursor 743 Cytoplasmic (Potential). homophilic cell adhesion calcium ion binding|receptor activity ovary(1) 1 GCTCCGCAAGCGGCCCAGCCC 0.602 ATRNL1 26033 broad.mit.edu 37 10 117026352 117026352 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:117026352T>C uc001lcg.2 + 12 2237 c.1851T>C c.(1849-1851)GCT>GCC p.A617A NM_207303 NP_997186 Q5VV63 ATRN1_HUMAN attractin-like 1 precursor 617 PSI 1.|Kelch 6.|Extracellular (Potential). integral to membrane sugar binding ovary(5)|lung(1)|central_nervous_system(1) 7 all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234) Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827) ATTGCAAGGCTTTCAGAGATG 0.333 MUC6 4588 broad.mit.edu 37 11 1017663 1017663 + Missense_Mutation SNP T T A rs72022620 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:1017663T>A uc001lsw.2 - 31 5189 c.5138A>T c.(5137-5139)AAC>ATC p.N1713I NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 1713 Thr-rich.|1; truncated.|Approximate repeats. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGGGGTGATGTTGGTGGTAGA 0.527 OR52I2 143502 broad.mit.edu 37 11 4608534 4608534 + Missense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:4608534A>T uc010qyh.1 + 1 492 c.492A>T c.(490-492)AGA>AGT p.R164S NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN olfactory receptor, family 52, subfamily I, 164 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 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) ACTACAAGAGAATTCTCACGC 0.493 LMO2 4005 broad.mit.edu 37 11 33886163 33886163 + Missense_Mutation SNP C C T rs111991485 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:33886163C>T uc001mve.2 - 2 681 c.242G>A c.(241-243)CGG>CAG p.R81Q LMO2_uc001mvc.2_Missense_Mutation_p.R74Q|LMO2_uc001mvd.2_Missense_Mutation_p.R74Q|LMO2_uc010rel.1_Missense_Mutation_p.R81Q|LMO2_uc010rem.1_Missense_Mutation_p.R150Q NM_001142316 NP_001135788 P25791 RBTN2_HUMAN LIM domain only 2 isoform 2 81 LIM zinc-binding 1. multicellular organismal development nucleus protein binding|zinc ion binding lung(1) 1 ATAGTCTCTCCGGCAGAGCTT 0.647 T TRD@ T-ALL ACCSL 390110 broad.mit.edu 37 11 44074565 44074565 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:44074565T>A uc001mxw.1 + 7 951 c.895T>A c.(895-897)TTC>ATC p.F299I ACCSL_uc009ykr.2_Missense_Mutation_p.F118I NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 299 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 CACCCATCCTTTCCAGCTCAC 0.453 OR5D13 390142 broad.mit.edu 37 11 55541187 55541187 + Nonsense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:55541187A>T uc010ril.1 + 1 274 c.274A>T c.(274-276)AGA>TGA p.R92* NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TGTGGAATACAGAACCATCTC 0.393 OR5T3 390154 broad.mit.edu 37 11 56019837 56019837 + Silent SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:56019837A>G uc010rjd.1 + 1 162 c.162A>G c.(160-162)CAA>CAG p.Q54Q NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, 54 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Esophageal squamous(21;0.00448) TTGAGCTGCAAGTCTTCCTAT 0.393 GPR137 56834 broad.mit.edu 37 11 64055814 64055814 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:64055814G>A uc001nzg.1 + 6 1094 c.786G>A c.(784-786)GCG>GCA p.A262A GPR137_uc010rni.1_Silent_p.A320A|GPR137_uc001nzf.2_Silent_p.A212A|GPR137_uc001nzi.2_Silent_p.A262A|GPR137_uc010rnj.1_Silent_p.A262A|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank NM_020155 NP_064540 Q96N19 G137A_HUMAN G protein-coupled receptor 137 262 Extracellular (Potential). integral to membrane central_nervous_system(1) 1 TCCCACAGGCGGACCTGGTGA 0.627 FOLH1B 219595 broad.mit.edu 37 11 89431691 89431691 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:89431691G>T uc001pda.2 + 14 1779 c.1253G>T c.(1252-1254)GGA>GTA p.G418V NM_153696 NP_710163 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B 418 proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity ovary(3)|skin(2)|central_nervous_system(1) 6 AAGGCCTGGGGAGATGTGAAG 0.473 GLB1L2 89944 broad.mit.edu 37 11 134214955 134214955 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr11:134214955C>T uc001qhp.2 + 4 569 c.381C>T c.(379-381)ATC>ATT p.I127I GLB1L2_uc009zdg.1_5'Flank NM_138342 NP_612351 Q8IW92 GLBL2_HUMAN galactosidase, beta 1-like 2 precursor 127 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds ovary(1)|pancreas(1)|skin(1) 3 all_hematologic(175;0.127) all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844) Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223) CCGCAGAGATCGGGCTGTGGG 0.662 FGF6 2251 broad.mit.edu 37 12 4543436 4543436 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:4543436C>T uc001qmr.1 - 3 616 c.572G>A c.(571-573)CGG>CAG p.R191Q NM_020996 NP_066276 P10767 FGF6_HUMAN fibroblast growth factor 6 precursor 191 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity lung(2)|ovary(1) 3 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) CTTGCTGCCCCGCTTTACCCG 0.493 KCNA5 3741 broad.mit.edu 37 12 5154932 5154932 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:5154932G>A uc001qni.2 + 1 1848 c.1619G>A c.(1618-1620)GGC>GAC p.G540D NM_002234 NP_002225 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related 540 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity ovary(2)|breast(2) 4 GAAGAGCAGGGCACTCAGAGC 0.622 BCAT1 586 broad.mit.edu 37 12 25002867 25002867 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:25002867T>G uc001rgd.3 - 6 969 c.527A>C c.(526-528)AAG>ACG p.K176T BCAT1_uc001rgc.2_Missense_Mutation_p.K175T|BCAT1_uc010six.1_Missense_Mutation_p.K188T|BCAT1_uc010siy.1_Missense_Mutation_p.K139T|BCAT1_uc001rge.3_Missense_Mutation_p.K115T NM_005504 NP_005495 P54687 BCAT1_HUMAN branched chain aminotransferase 1, cytosolic 176 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity lung(1)|breast(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) GGTAGGCTTCTTGACTCCAAG 0.428 LRRK2 120892 broad.mit.edu 37 12 40697927 40697927 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:40697927A>C uc001rmg.3 + 27 3889 c.3768A>C c.(3766-3768)AAA>AAC p.K1256N LRRK2_uc001rmh.1_Missense_Mutation_p.K878N|LRRK2_uc009zjw.2_Missense_Mutation_p.K94N|LRRK2_uc001rmi.2_Missense_Mutation_p.K89N NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1256 LRR 11. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CTCACAATAAACTGAAAGAGG 0.308 MLL2 8085 broad.mit.edu 37 12 49416540 49416540 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:49416540G>A uc001rta.3 - 51 16171 c.16171C>T c.(16171-16173)CTG>TTG p.L5391L NM_003482 NP_003473 O14686 MLL2_HUMAN myeloid/lymphoid or mixed-lineage leukemia 2 5391 chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent histone methyltransferase complex histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2) 41 TCGGTGCGCAGCCGCCGGTAC 0.552 N|F|Mis medulloblastoma|renal HNSCC(34;0.089) C1QL4 338761 broad.mit.edu 37 12 49729959 49729959 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:49729959G>A uc001rtz.1 - 1 1013 c.302C>T c.(301-303)GCG>GTG p.A101V NM_001008223 NP_001008224 Q86Z23 C1QL4_HUMAN complement component 1, q subcomponent-like 4 101 collagen 0 GGCAGCGGGCGCCACCCCGCC 0.746 NAV3 89795 broad.mit.edu 37 12 78443852 78443852 + Silent SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:78443852C>A uc001syp.2 + 10 2276 c.2103C>A c.(2101-2103)TCC>TCA p.S701S NAV3_uc001syo.2_Silent_p.S701S|NAV3_uc010sub.1_Silent_p.S201S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 701 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 AGACTATGTCCAGTCTTCGTG 0.328 HNSCC(70;0.22) MGAT4C 25834 broad.mit.edu 37 12 86373864 86373864 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:86373864C>A uc001tai.3 - 8 1890 c.640G>T c.(640-642)GCC>TCC p.A214S MGAT4C_uc001tal.3_Missense_Mutation_p.A214S|MGAT4C_uc001taj.3_Missense_Mutation_p.A214S|MGAT4C_uc001tak.3_Missense_Mutation_p.A214S|MGAT4C_uc010sum.1_Missense_Mutation_p.A238S|MGAT4C_uc001tah.3_Missense_Mutation_p.A214S NM_013244 NP_037376 Q9UBM8 MGT4C_HUMAN alpha-1,3-mannosyl-glycoprotein 214 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding ovary(3) 3 GAAGTATTGGCACAAAAATTA 0.333 KSR2 283455 broad.mit.edu 37 12 118105417 118105417 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:118105417C>T uc001two.2 - 5 1001 c.946G>A c.(946-948)GTA>ATA p.V316I NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 345 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CAGCTGCCTACGCTGCTGTGG 0.542 EP400 57634 broad.mit.edu 37 12 132546656 132546656 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr12:132546656C>T uc001ujn.2 + 45 7921 c.7886C>T c.(7885-7887)ACG>ATG p.T2629M EP400_uc001ujl.2_Missense_Mutation_p.T2628M|EP400_uc001ujm.2_Missense_Mutation_p.T2548M|EP400_uc001ujp.2_5'Flank NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 2665 Interaction with ZNF42 (By similarity). histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTTTTCTAGACGCCGGGAGGC 0.617 MTUS2 23281 broad.mit.edu 37 13 29608101 29608101 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr13:29608101C>T uc001usl.3 + 2 2373 c.2315C>T c.(2314-2316)TCA>TTA p.S772L NM_001033602 NP_001028774 Q5JR59 MTUS2_HUMAN hypothetical protein LOC23281 isoform a 762 Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity 0 TTCTATCGGTCAGCCATGCTC 0.463 NBEA 26960 broad.mit.edu 37 13 35644947 35644947 + Missense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr13:35644947A>T uc001uvb.2 + 11 1735 c.1529A>T c.(1528-1530)GAT>GTT p.D510V NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 510 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 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) GCCCAATTGGATAATAGGCAG 0.368 POSTN 10631 broad.mit.edu 37 13 38137480 38137480 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr13:38137480C>T uc001uwo.3 - 23 2619 c.2501G>A c.(2500-2502)CGT>CAT p.R834H POSTN_uc010tet.1_Missense_Mutation_p.R335H|POSTN_uc001uwp.3_Missense_Mutation_p.R777H|POSTN_uc001uwr.2_Missense_Mutation_p.R779H|POSTN_uc001uwq.2_Missense_Mutation_p.R749H NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 834 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) TCACTGAGAACGACCTTCCCT 0.308 MTRF1 9617 broad.mit.edu 37 13 41834883 41834883 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr13:41834883C>T uc001uxx.2 - 4 631 c.161G>A c.(160-162)AGT>AAT p.S54N MTRF1_uc001uxy.2_Missense_Mutation_p.S54N|MTRF1_uc001uxz.2_5'UTR|MTRF1_uc010tff.1_Missense_Mutation_p.S67N|MTRF1_uc001uyc.1_Missense_Mutation_p.S54N NM_004294 NP_004285 O75570 RF1M_HUMAN mitochondrial translational release factor 1 54 regulation of translational termination mitochondrion translation release factor activity, codon specific 0 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125) OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248) CCAATTCTTACTTAACAGATG 0.388 PCDH8 5100 broad.mit.edu 37 13 53420277 53420277 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr13:53420277G>A uc001vhi.2 - 1 2498 c.2295C>T c.(2293-2295)GCC>GCT p.A765A PCDH8_uc001vhj.2_Silent_p.A765A NM_002590 NP_002581 O95206 PCDH8_HUMAN protocadherin 8 isoform 1 precursor 765 Helical; (Potential). cell-cell signaling|homophilic cell adhesion cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane calcium ion binding breast(1) 1 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) CGATGATGGCGGCCAGCAGCA 0.607 MYCBP2 23077 broad.mit.edu 37 13 77664288 77664288 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr13:77664288G>T uc001vkf.2 - 61 10455 c.10364C>A c.(10363-10365)GCA>GAA p.A3455E MYCBP2_uc010aev.2_Missense_Mutation_p.A2859E|MYCBP2_uc001vke.2_Missense_Mutation_p.A75E NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 3455 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTTAACTCGTGCAGGTAAAAT 0.358 OCA2 4948 broad.mit.edu 37 15 28261279 28261279 + Silent SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:28261279C>G uc001zbh.3 - 8 971 c.861G>C c.(859-861)GTG>GTC p.V287V OCA2_uc010ayv.2_Silent_p.V287V NM_000275 NP_000266 Q04671 P_HUMAN oculocutaneous albinism II 287 Extracellular (Potential). eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding ovary(3)|breast(1)|pancreas(1) 5 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) TCCTGCTCATCACTGAGTGCT 0.502 Oculocutaneous_Albinism FMN1 342184 broad.mit.edu 37 15 33261648 33261648 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:33261648G>A uc001zhf.3 - 4 1585 c.1585C>T c.(1585-1587)CGG>TGG p.R529W NM_001103184 NP_001096654 Q68DA7 FMN1_HUMAN formin 1 752 Potential.|Mediates interaction with alpha-catenin (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding ovary(1) 1 all_lung(180;1.14e-07) all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262) TGCTCGCCCCGGATATGAAAT 0.403 RPAP1 26015 broad.mit.edu 37 15 41812627 41812627 + Missense_Mutation SNP C C T rs143725774 by1000genomes TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:41812627C>T uc001zod.2 - 22 3881 c.3757G>A c.(3757-3759)GTG>ATG p.V1253M RPAP1_uc001zoc.2_Missense_Mutation_p.V272M NM_015540 NP_056355 Q9BWH6 RPAP1_HUMAN RNA polymerase II associated protein 1 1253 Leu-rich. nucleus DNA binding|DNA-directed RNA polymerase activity large_intestine(1) 1 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) AAGGCTCCCACGTGTTCCCCA 0.642 MYO5A 4644 broad.mit.edu 37 15 52667640 52667640 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:52667640C>A uc002aby.2 - 20 2682 c.2438G>T c.(2437-2439)CGC>CTC p.R813L MYO5A_uc002abx.3_Missense_Mutation_p.R813L|MYO5A_uc010uge.1_Missense_Mutation_p.R682L NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 813 IQ 2. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) CTTGGTTCTGCGCAGAAACTT 0.413 CILP 8483 broad.mit.edu 37 15 65491108 65491108 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:65491108G>A uc002aon.2 - 9 1697 c.1516C>T c.(1516-1518)CGC>TGC p.R506C NM_003613 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein 506 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix ovary(4)|pancreas(2)|skin(1) 7 TGGCCAAAGCGCATGGGCTCC 0.607 C15orf59 388135 broad.mit.edu 37 15 74032739 74032739 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:74032739C>T uc002avy.2 - 2 746 c.401G>A c.(400-402)GGG>GAG p.G134E NM_001039614 NP_001034703 Q2T9L4 CO059_HUMAN hypothetical protein LOC388135 134 pancreas(1) 1 AGGGCCAGCCCCTGGCCGAGT 0.627 ARNT2 9915 broad.mit.edu 37 15 80806710 80806710 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:80806710C>T uc002bfr.2 + 8 1007 c.841C>T c.(841-843)CAC>TAC p.H281Y ARNT2_uc010unm.1_Missense_Mutation_p.H270Y|ARNT2_uc002bfs.2_Missense_Mutation_p.H270Y NM_014862 NP_055677 Q9HBZ2 ARNT2_HUMAN aryl hydrocarbon receptor nuclear translocator 281 central nervous system development|in utero embryonic development|response to hypoxia aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity central_nervous_system(3)|ovary(1)|pancreas(1) 5 BRCA - Breast invasive adenocarcinoma(143;0.134) TGCTGTGGTCCACTGTACAGG 0.493 ADAMTSL3 57188 broad.mit.edu 37 15 84539669 84539669 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr15:84539669T>G uc002bjz.3 + 9 1142 c.918T>G c.(916-918)ACT>ACG p.T306T ADAMTSL3_uc010bmt.1_Silent_p.T306T|ADAMTSL3_uc010bmu.1_Silent_p.T306T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 306 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) AGAGGCAAACTTTTAAGATTC 0.438 ADAMTS18 170692 broad.mit.edu 37 16 77327095 77327095 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr16:77327095C>T uc002ffc.3 - 20 3486 c.3067G>A c.(3067-3069)GCA>ACA p.A1023T ADAMTS18_uc010chc.1_Missense_Mutation_p.A611T NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 1023 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 AGGGTTTCTGCGGCAGAGCCC 0.562 DNAH2 146754 broad.mit.edu 37 17 7689646 7689646 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr17:7689646T>G uc002giu.1 + 39 6348 c.6334T>G c.(6334-6336)TTC>GTC p.F2112V NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2112 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) AGACCCTAACTTCAACATTGT 0.597 ZNF287 57336 broad.mit.edu 37 17 16470856 16470856 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr17:16470856G>C uc002gqi.2 - 2 643 c.190C>G c.(190-192)CGA>GGA p.R64G NM_020653 NP_065704 Q9HBT7 ZN287_HUMAN zinc finger protein 287 57 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.083) AATGCCTTTCGAGGACCAGCC 0.463 ERBB2 2064 broad.mit.edu 37 17 37863285 37863285 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr17:37863285C>T uc002hso.2 + 2 354 c.116C>T c.(115-117)CCC>CTC p.P39L ERBB2_uc002hsm.2_Missense_Mutation_p.P9L|ERBB2_uc010cwa.2_Missense_Mutation_p.P24L|ERBB2_uc002hsp.2_5'UTR|ERBB2_uc010cwb.2_Missense_Mutation_p.P39L|ERBB2_uc010wek.1_Intron|ERBB2_uc002hsl.2_Missense_Mutation_p.P9L|ERBB2_uc002hsn.1_Missense_Mutation_p.P39L NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 39 Extracellular (Potential). cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) CCTGCCAGTCCCGAGACCCAC 0.642 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) ERBB2 2064 broad.mit.edu 37 17 37880998 37880998 + Missense_Mutation SNP G G T rs144434331 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr17:37880998G>T uc002hso.2 + 20 2565 c.2327G>T c.(2326-2328)GGT>GTT p.G776V ERBB2_uc002hsm.2_Missense_Mutation_p.G746V|ERBB2_uc010cwa.2_Missense_Mutation_p.G761V|ERBB2_uc002hsp.2_Missense_Mutation_p.G579V|ERBB2_uc010cwb.2_Missense_Mutation_p.G776V|ERBB2_uc010wek.1_Missense_Mutation_p.G500V NM_004448 NP_004439 P04626 ERBB2_HUMAN erbB-2 isoform a 776 Cytoplasmic (Potential).|Protein kinase. cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A775_G776insYVMA(19)|p.G776>VC(8)|p.G776>LC(3)|p.G776V(2)|p.G776S(2) lung(73)|central_nervous_system(16)|ovary(16)|stomach(14)|breast(9)|upper_aerodigestive_tract(5)|large_intestine(3)|liver(3)|endometrium(2)|skin(1)|pancreas(1) 143 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) Ovarian(249;0.0547)|Colorectal(1115;0.234) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171) UCEC - Uterine corpus endometrioid carcinoma (308;0.0767) Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072) GTGATGGCTGGTGTGGGCTCC 0.577 1 A|Mis|O breast|ovarian|other tumour types|NSCLC|gastric TCGA GBM(5;<1E-08) ATP6V0A1 535 broad.mit.edu 37 17 40650953 40650953 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr17:40650953T>C uc002hzr.2 + 15 1739 c.1572T>C c.(1570-1572)ATT>ATC p.I524I ATP6V0A1_uc002hzq.2_Silent_p.I524I|ATP6V0A1_uc002hzs.2_Silent_p.I531I|ATP6V0A1_uc010wgj.1_Silent_p.I481I|ATP6V0A1_uc010wgk.1_Silent_p.I481I|ATP6V0A1_uc010cyg.2_Silent_p.I170I|ATP6V0A1_uc010wgl.1_Silent_p.I383I NM_001130021 NP_001123493 Q93050 VPP1_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a1 524 Cytoplasmic (Potential). ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity pancreas(1) 1 all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254) BRCA - Breast invasive adenocarcinoma(366;0.137) TTTGGAACATTGCTACCAATA 0.328 INTS2 57508 broad.mit.edu 37 17 59946443 59946443 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr17:59946443G>C uc002izn.2 - 23 3296 c.3220C>G c.(3220-3222)CTT>GTT p.L1074V INTS2_uc002izm.2_Missense_Mutation_p.L1066V NM_020748 NP_065799 Q9H0H0 INT2_HUMAN integrator complex subunit 2 1074 snRNA processing integral to membrane|integrator complex|nuclear membrane protein binding ovary(1)|lung(1)|pancreas(1) 3 GCCACACTAAGTGACTTTGGT 0.343 AATK 9625 broad.mit.edu 37 17 79095778 79095778 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr17:79095778G>A uc010dia.2 - 11 2038 c.1958C>T c.(1957-1959)GCG>GTG p.A653V AATK_uc010dhz.2_RNA NM_001080395 NP_001073864 Q6ZMQ8 LMTK1_HUMAN apoptosis-associated tyrosine kinase 653 integral to membrane|mitochondrion|perinuclear region of cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(4)|ovary(2)|lung(2)|upper_aerodigestive_tract(1) 9 all_neural(118;0.101) BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524) CAGCGGGGGCGCCCCTGAGCT 0.706 LAMA1 284217 broad.mit.edu 37 18 6977748 6977748 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr18:6977748T>C uc002knm.2 - 44 6417 c.6323A>G c.(6322-6324)CAG>CGG p.Q2108R LAMA1_uc010wzj.1_Missense_Mutation_p.Q1584R NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2108 Domain II and I.|Potential. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTTGCGGGCCTGGCTGATCAA 0.488 TCEB3B 51224 broad.mit.edu 37 18 44559804 44559804 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr18:44559804A>G uc002lcr.1 - 1 2185 c.1832T>C c.(1831-1833)CTT>CCT p.L611P KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.2_Intron|KATNAL2_uc002lcp.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN elongin A2 611 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding ovary(2)|large_intestine(1)|pancreas(1) 4 GGCGTCCGGAAGCCGCAGGTA 0.502 CXXC1 30827 broad.mit.edu 37 18 47813192 47813192 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr18:47813192C>T uc002leq.3 - 2 773 c.40G>A c.(40-42)GGG>AGG p.G14R CXXC1_uc002lep.3_5'UTR|CXXC1_uc002ler.3_Missense_Mutation_p.G14R|CXXC1_uc010doy.2_Missense_Mutation_p.G14R|CXXC1_uc002les.2_Missense_Mutation_p.G14R NM_014593 NP_055408 Q9P0U4 CXXC1_HUMAN CXXC finger 1 (PHD domain) isoform 2 14 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 CTGTCCTCCCCGGCATCTGGA 0.597 DCC 1630 broad.mit.edu 37 18 50985613 50985613 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr18:50985613C>T uc002lfe.1 + 24 3991 c.3404C>T c.(3403-3405)ACC>ATC p.T1135I DCC_uc010dpf.1_Missense_Mutation_p.T770I NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1135 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AAACGGGCCACCCACAGTGCT 0.448 ADAMTSL5 339366 broad.mit.edu 37 19 1508022 1508022 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:1508022G>C uc002ltd.2 - 7 1020 c.576C>G c.(574-576)TTC>TTG p.F192L ADAMTSL5_uc010dsl.2_5'UTR|ADAMTSL5_uc010xgq.1_Missense_Mutation_p.F202L NM_213604 NP_998769 Q6ZMM2 ATL5_HUMAN ADAMTS-like 5 precursor 192 proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding 0 Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08) 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) CGCGCTGCACGAAAAGGCACG 0.652 C3 718 broad.mit.edu 37 19 6694539 6694539 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:6694539C>T uc002mfm.2 - 24 3119 c.3057G>A c.(3055-3057)ACG>ACA p.T1019T C3_uc002mfl.2_5'Flank NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 1019 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) TGACCGTGGGCGTCATGCCGA 0.607 OR2Z1 284383 broad.mit.edu 37 19 8841424 8841424 + Missense_Mutation SNP T T A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:8841424T>A uc010xkg.1 + 1 34 c.34T>A c.(34-36)TTC>ATC p.F12I NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 12 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 GGCCTCAGACTTCATTCTGGT 0.502 OR7D4 125958 broad.mit.edu 37 19 9324989 9324989 + Silent SNP C C T rs111293642 byFrequency TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:9324989C>T uc002mla.1 - 1 525 c.525G>A c.(523-525)CCG>CCA p.P175P NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 175 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 AGAAGAAATGCGGAATCTCAG 0.507 CALR3 125972 broad.mit.edu 37 19 16590003 16590003 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:16590003G>A uc002ned.2 - 9 1157 c.1094C>T c.(1093-1095)TCG>TTG p.S365L MED26_uc002nee.2_RNA NM_145046 NP_659483 Q96L12 CALR3_HUMAN calreticulin 3 precursor 365 C-domain. protein folding endoplasmic reticulum lumen calcium ion binding|sugar binding|unfolded protein binding 0 AATTTTTCCCGACAGCAGCTC 0.443 MAP1S 55201 broad.mit.edu 37 19 17838295 17838295 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:17838295C>G uc002nhe.1 + 5 2111 c.2102C>G c.(2101-2103)TCC>TGC p.S701C MAP1S_uc010eba.1_Intron|MAP1S_uc002nhf.1_5'UTR|MAP1S_uc010xpv.1_Missense_Mutation_p.S675C NM_018174 NP_060644 Q66K74 MAP1S_HUMAN BPY2 interacting protein 1 701 Pro-rich.|Necessary for the microtubule-organizing center localization.|Necessary for interaction with RASSF1 isoform A and isoform C. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding central_nervous_system(1) 1 CTGTCGGTGTCCTTTGAGCAG 0.711 FKBP8 23770 broad.mit.edu 37 19 18652694 18652694 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:18652694C>T uc002njk.1 - 2 200 c.87G>A c.(85-87)GGG>GGA p.G29G FKBP8_uc002nji.1_5'Flank|FKBP8_uc010xqi.1_Silent_p.G58G|FKBP8_uc002njj.1_Silent_p.G29G|FKBP8_uc002njl.1_Silent_p.G29G|FKBP8_uc002njm.1_Silent_p.G29G|FKBP8_uc010ebr.1_5'UTR|FKBP8_uc002njn.2_RNA NM_012181 NP_036313 Q14318 FKBP8_HUMAN FK506-binding protein 8 29 Glu-rich. apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding integral to endoplasmic reticulum membrane|mitochondrial membrane FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding ovary(1) 1 CATCCTCAACCCCATCCAGTA 0.547 ZNF486 90649 broad.mit.edu 37 19 20295168 20295168 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:20295168T>C uc002nou.2 + 2 91 c.34T>C c.(34-36)TCA>CCA p.S12P NM_052852 NP_443084 Q96H40 ZN486_HUMAN zinc finger protein 486 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 TTTTCAGGAATCATTGCAATT 0.398 PAK4 10298 broad.mit.edu 37 19 39664631 39664631 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:39664631G>A uc002okj.1 + 6 1540 c.1079G>A c.(1078-1080)CGC>CAC p.R360H PAK4_uc002okl.1_Missense_Mutation_p.R360H|PAK4_uc002okn.1_Missense_Mutation_p.R360H|PAK4_uc002okm.1_Missense_Mutation_p.R207H|PAK4_uc002oko.1_Missense_Mutation_p.R207H|PAK4_uc002okp.1_Missense_Mutation_p.R270H NM_001014831 NP_001014831 O96013 PAK4_HUMAN p21-activated kinase 4 isoform 1 360 Protein kinase. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity lung(3)|ovary(1) 4 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) CAGCAGAGGCGCGAGCTGCTC 0.517 ZC3H4 23211 broad.mit.edu 37 19 47597703 47597703 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:47597703C>G uc002pga.3 - 3 362 c.324G>C c.(322-324)AAG>AAC p.K108N ZC3H4_uc002pgb.1_RNA NM_015168 NP_055983 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 108 Potential. nucleic acid binding|zinc ion binding skin(4)|ovary(2) 6 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) CCCGCTCTTTCTTCCGTTTCC 0.552 RCN3 57333 broad.mit.edu 37 19 50031892 50031892 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:50031892G>A uc002poj.2 + 2 610 c.163G>A c.(163-165)GAC>AAC p.D55N NM_020650 NP_065701 Q96D15 RCN3_HUMAN reticulocalbin 3, EF-hand calcium binding domain 55 endoplasmic reticulum lumen calcium ion binding|protein binding ovary(1) 1 all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159) CTTCCAGTACGACCATGAGGC 0.642 ZNF347 84671 broad.mit.edu 37 19 53644890 53644890 + Silent SNP T T C rs145023051 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:53644890T>C uc002qbb.1 - 5 1260 c.1191A>G c.(1189-1191)GGA>GGG p.G397G ZNF347_uc010eql.1_Silent_p.G398G|ZNF347_uc002qbc.1_Silent_p.G398G NM_032584 NP_115973 Q96SE7 ZN347_HUMAN zinc finger protein 347 397 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GBM - Glioblastoma multiforme(134;0.0179) AAGGTTTTTCTCCACTGTGGG 0.413 VN1R2 317701 broad.mit.edu 37 19 53762323 53762323 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:53762323C>A uc002qbi.2 + 1 779 c.695C>A c.(694-696)ACT>AAT p.T232N NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN vomeronasal 1 receptor 2 232 Extracellular (Potential). response to pheromone integral to membrane|plasma membrane pheromone receptor activity 0 GBM - Glioblastoma multiforme(134;0.00301) ATTTATACAACTGGCAAATGG 0.423 VN1R4 317703 broad.mit.edu 37 19 53770580 53770580 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:53770580T>C uc010ydu.1 - 1 339 c.339A>G c.(337-339)AAA>AAG p.K113K NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 113 Cytoplasmic (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) CCCACCTGGATTTCCTGGAGC 0.498 HNSCC(26;0.072) VN1R4 317703 broad.mit.edu 37 19 53770593 53770593 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:53770593A>C uc010ydu.1 - 1 326 c.326T>G c.(325-327)GTC>GGC p.V109G NM_173857 NP_776256 Q7Z5H5 VN1R4_HUMAN vomeronasal 1 receptor 4 109 Helical; Name=3; (Potential). response to pheromone actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane pheromone receptor activity ovary(2) 2 GBM - Glioblastoma multiforme(134;0.00294) CCTGGAGCTGACCGTGATCAC 0.502 HNSCC(26;0.072) TMC4 147798 broad.mit.edu 37 19 54664210 54664210 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:54664210T>C uc010erf.2 - 14 2196 c.2064A>G c.(2062-2064)AGA>AGG p.R688R LENG1_uc002qdm.2_5'Flank|TMC4_uc002qdn.2_Silent_p.R402R|TMC4_uc002qdo.2_Silent_p.R682R NM_001145303 NP_001138775 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 isoform 1 688 Cytoplasmic (Potential). integral to membrane pancreas(1) 1 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCACCGTCTGTCTCtgacgtt 0.473 ZNF471 57573 broad.mit.edu 37 19 57037314 57037314 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:57037314T>G uc002qnh.2 + 5 2011 c.1878T>G c.(1876-1878)CCT>CCG p.P626P NM_020813 NP_065864 Q9BX82 ZN471_HUMAN zinc finger protein 471 626 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0307) GAGAAGAACCTTAAGAATGTA 0.388 ZNF71 58491 broad.mit.edu 37 19 57133214 57133214 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:57133214G>T uc002qnm.3 + 3 797 c.559G>T c.(559-561)GCC>TCC p.A187S NM_021216 NP_067039 Q9NQZ8 ZNF71_HUMAN zinc finger protein 71 187 C2H2-type 3. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18) GAAGCCCTATGCCTGCGGGGA 0.632 ZNF329 79673 broad.mit.edu 37 19 58639918 58639918 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:58639918T>G uc002qrn.2 - 4 1190 c.953A>C c.(952-954)AAC>ACC p.N318T ZNF329_uc010euk.1_RNA|ZNF329_uc002qro.1_RNA|ZNF329_uc002qrp.1_RNA NM_024620 NP_078896 Q86UD4 ZN329_HUMAN zinc finger protein 329 318 C2H2-type 5. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding skin(1) 1 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) CCCACATTCGTTACATCTATA 0.428 SNTG2 54221 broad.mit.edu 37 2 1241710 1241710 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:1241710T>C uc002qwq.2 + 10 898 c.770T>C c.(769-771)CTC>CCC p.L257P SNTG2_uc010ewi.2_Missense_Mutation_p.L130P NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 257 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding ovary(1)|large_intestine(1)|breast(1) 3 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TCTGGGATCCTCCGGTTTTAC 0.642 ATP6V1C2 245973 broad.mit.edu 37 2 10917808 10917808 + Missense_Mutation SNP G G A rs117054621 by1000genomes TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:10917808G>A uc002ras.2 + 11 1032 c.923G>A c.(922-924)GGG>GAG p.G308E ATP6V1C2_uc002rat.2_Intron NM_001039362 NP_001034451 Q8NEY4 VATC2_HUMAN vacuolar H+ ATPase C2 isoform a 308 ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport cytosol|proton-transporting V-type ATPase, V1 domain ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152) CCTGCTGCGGGGCAGACCGAC 0.597 ADCY3 109 broad.mit.edu 37 2 25141312 25141312 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:25141312G>A uc002rfs.3 - 1 744 c.545C>T c.(544-546)ACG>ATG p.T182M ADCY3_uc010ykm.1_Missense_Mutation_p.T182M NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 182 Helical; (Potential). 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|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) GAGGGGCAGCGTGATGAAGAA 0.627 ALMS1 7840 broad.mit.edu 37 2 73716933 73716933 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:73716933G>A uc002sje.1 + 12 7961 c.7850G>A c.(7849-7851)CGG>CAG p.R2617Q ALMS1_uc002sjf.1_Missense_Mutation_p.R2573Q|ALMS1_uc002sjg.2_Missense_Mutation_p.R2003Q|ALMS1_uc002sjh.1_Missense_Mutation_p.R2003Q NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2615 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 ACCAGAGGACGGCAGAACCCA 0.453 LRP2 4036 broad.mit.edu 37 2 170131608 170131608 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:170131608T>G uc002ues.2 - 14 2126 c.1913A>C c.(1912-1914)TAC>TCC p.Y638S LRP2_uc010zdf.1_Missense_Mutation_p.Y569S NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 638 LDL-receptor class B 5.|Extracellular (Potential). hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 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) AGCCTGGTAGTACACTTGTGG 0.493 GAD1 2571 broad.mit.edu 37 2 171700589 171700589 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:171700589A>G uc002ugi.2 + 7 1095 c.673A>G c.(673-675)ATG>GTG p.M225V NM_000817 NP_000808 Q99259 DCE1_HUMAN glutamate decarboxylase 1 isoform GAD67 225 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 ovary(1) 1 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GTTTGTCCTCATGGAACAAAT 0.373 SLC25A12 8604 broad.mit.edu 37 2 172690559 172690559 + Missense_Mutation SNP A A T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:172690559A>T uc002uhh.2 - 8 848 c.759T>A c.(757-759)TTT>TTA p.F253L SLC25A12_uc010fqh.2_Missense_Mutation_p.F146L|SLC25A12_uc010zdv.1_RNA NM_003705 NP_003696 O75746 CMC1_HUMAN solute carrier family 25, member 12 253 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding 0 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CACTCTGGGCAAATTCCTCTG 0.328 HOXD8 3234 broad.mit.edu 37 2 176995668 176995668 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:176995668C>A uc002uko.2 + 1 1192 c.574C>A c.(574-576)CAA>AAA p.Q192K uc002ukl.1_5'Flank|uc002ukm.1_5'Flank|HOXD8_uc002ukn.2_Missense_Mutation_p.Q8K|HOXD8_uc002ukp.2_Missense_Mutation_p.Q192K NM_019558 NP_062458 P13378 HXD8_HUMAN homeobox D8 192 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195) Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556) GATGAGACCACAAGGTTGGGA 0.463 TTN 7273 broad.mit.edu 37 2 179472135 179472135 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:179472135T>G uc010zfg.1 - 226 45800 c.45576A>C c.(45574-45576)GAA>GAC p.E15192D uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.E8887D|TTN_uc010zfi.1_Missense_Mutation_p.E8820D|TTN_uc010zfj.1_Missense_Mutation_p.E8695D NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 16119 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TACCAAAAACTTCTACCCTGG 0.383 CWC22 57703 broad.mit.edu 37 2 180815583 180815583 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:180815583A>C uc010frh.1 - 18 2188 c.1888T>G c.(1888-1890)TTC>GTC p.F630V CWC22_uc002uno.2_Missense_Mutation_p.F152V|CWC22_uc002unp.2_Missense_Mutation_p.F630V NM_020943 NP_065994 Q9HCG8 CWC22_HUMAN CWC22 spliceosome-associated protein homolog 630 catalytic step 2 spliceosome protein binding|RNA binding 0 GAAGTAAAGAAGTTGATGGCA 0.313 PLCL1 5334 broad.mit.edu 37 2 198950817 198950817 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:198950817G>A uc010fsp.2 + 2 2867 c.2576G>A c.(2575-2577)CGC>CAC p.R859H PLCL1_uc002uuv.3_Missense_Mutation_p.R780H NM_001114661 NP_001108133 Q15111 PLCL1_HUMAN RecName: Full=Inactive phospholipase C-like protein 1; Short=PLC-L1; AltName: Full=Phospholipase C-deleted in lung carcinoma; AltName: Full=Phospholipase C-related but catalytically inactive protein; Short=PRIP; 859 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity ovary(1)|skin(1) 2 Quinacrine(DB01103) GCACAGAAGCGCAGTCTTTCA 0.438 NBEAL1 65065 broad.mit.edu 37 2 204055113 204055113 + Splice_Site SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:204055113G>A uc002uzt.3 + 45 7167 c.6834_splice c.e45+1 p.K2278_splice NBEAL1_uc002uzs.3_Splice_Site_p.K988_splice NM_001114132 NP_001107604 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 isoform 3 binding ovary(1)|skin(1) 2 ATTATTAAAGGTAAGTCAACA 0.338 NPPC 4880 broad.mit.edu 37 2 232790333 232790333 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:232790333G>A uc002vsl.1 - 2 183 c.183C>T c.(181-183)GGC>GGT p.G61G NM_024409 NP_077720 P23582 ANFC_HUMAN natriuretic peptide precursor C precursor 61 cGMP biosynthetic process|growth plate cartilage chondrocyte differentiation|growth plate cartilage chondrocyte proliferation|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vasoconstriction hormone activity 0 all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025) Epithelial(121;9.35e-14)|BRCA - Breast invasive adenocarcinoma(100;0.00119)|LUSC - Lung squamous cell carcinoma(224;0.00746)|Lung(119;0.00834) TGAGATTGGCGCCCCCGCCCC 0.731 COL6A3 1293 broad.mit.edu 37 2 238283448 238283448 + Missense_Mutation SNP G G A rs114852262 by1000genomes TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr2:238283448G>A uc002vwl.2 - 8 3571 c.3286C>T c.(3286-3288)CGC>TGC p.R1096C COL6A3_uc002vwo.2_Missense_Mutation_p.R890C|COL6A3_uc010znj.1_Missense_Mutation_p.R489C|COL6A3_uc002vwq.2_Missense_Mutation_p.R890C|COL6A3_uc002vwr.2_Missense_Mutation_p.R689C NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1096 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 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) GTCAGCTGGCGGACAGCGTTG 0.637 ProSAPiP1 9762 broad.mit.edu 37 20 3146889 3146889 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr20:3146889G>C uc002wia.1 - 2 1975 c.577C>G c.(577-579)CCT>GCT p.P193A ProSAPiP1_uc002wib.1_Missense_Mutation_p.P193A NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 193 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 AGGCCACCAGGGCCCTGCCGT 0.622 C20orf196 149840 broad.mit.edu 37 20 5843951 5843951 + Missense_Mutation SNP C C T rs140278441 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr20:5843951C>T uc002wmf.2 + 3 547 c.460C>T c.(460-462)CGG>TGG p.R154W NM_152504 NP_689717 Q8IYI0 CT196_HUMAN hypothetical protein LOC149840 154 0 GATCTTCAACCGGGACGGCTG 0.522 REM1 28954 broad.mit.edu 37 20 30064147 30064147 + Translation_Start_Site SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr20:30064147C>G uc002wwa.2 + 2 183 c.-101C>G c.(-103--99)ATCAG>ATGAG NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AGCAGCTCATCAGGACACTAT 0.507 REM1 28954 broad.mit.edu 37 20 30064401 30064401 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr20:30064401C>T uc002wwa.2 + 2 437 c.153C>T c.(151-153)TCC>TCT p.S51S NM_014012 NP_054731 O75628 REM1_HUMAN RAS-like GTP-binding protein REM 51 small GTPase mediated signal transduction membrane calmodulin binding|GTP binding|GTPase activity lung(2)|pancreas(2) 4 all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) AATCAGCCTCCCTCAACCCTC 0.642 KCNG1 3755 broad.mit.edu 37 20 49626407 49626407 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr20:49626407C>T uc002xwa.3 - 2 764 c.469G>A c.(469-471)GCG>ACG p.A157T KCNG1_uc002xwb.2_Missense_Mutation_p.A157T NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 157 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 TGGTCCTCCGCGATGCCCCAG 0.657 BRWD1 54014 broad.mit.edu 37 21 40571563 40571563 + Silent SNP A A G rs2234546 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr21:40571563A>G uc002yxk.1 - 40 4918 c.4779T>C c.(4777-4779)TGT>TGC p.C1593C BRWD1_uc010goc.1_Silent_p.C236C|BRWD1_uc002yxl.2_Silent_p.C1593C NM_018963 NP_061836 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1593 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus skin(3)|ovary(1) 4 Prostate(19;8.44e-08)|all_epithelial(19;0.223) CTTTTCTGCCACATCCATTTG 0.318 OREG0003861 type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay ARVCF 421 broad.mit.edu 37 22 19960533 19960533 + Missense_Mutation SNP G G A rs115199082 by1000genomes TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr22:19960533G>A uc002zqz.2 - 15 2736 c.2465C>T c.(2464-2466)GCG>GTG p.A822V ARVCF_uc002zqy.2_Missense_Mutation_p.A338V NM_001670 NP_001661 O00192 ARVC_HUMAN armadillo repeat protein 822 ARM 10. cell adhesion|multicellular organismal development protein binding liver(1) 1 Colorectal(54;0.0993) CACGTGTGACGCCGCCTTCGC 0.687 TOM1 10043 broad.mit.edu 37 22 35743071 35743071 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr22:35743071C>T uc003ann.2 + 15 1473 c.1348C>T c.(1348-1350)CGG>TGG p.R450W TOM1_uc011ami.1_Missense_Mutation_p.R418W|TOM1_uc011amj.1_Missense_Mutation_p.R293W|TOM1_uc003ans.2_Missense_Mutation_p.R293W|TOM1_uc011amk.1_Missense_Mutation_p.R412W|TOM1_uc003anp.2_Missense_Mutation_p.R451W|TOM1_uc011aml.1_Missense_Mutation_p.R405W|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.R444W|TOM1_uc003anr.2_Missense_Mutation_p.R293W NM_005488 NP_005479 O60784 TOM1_HUMAN target of myb1 isoform 1 450 endocytosis|endosome transport|intracellular protein transport cytosol|early endosome|membrane protein binding ovary(1) 1 CCTGGAAGAACGGGCCAAAGC 0.672 APOL2 23780 broad.mit.edu 37 22 36624137 36624137 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr22:36624137G>A uc003aoz.2 - 5 663 c.327C>T c.(325-327)GTC>GTT p.V109V APOL2_uc011amm.1_Silent_p.V221V|APOL2_uc003apa.2_Silent_p.V109V NM_030882 NP_112092 Q9BQE5 APOL2_HUMAN apolipoprotein L2 109 acute-phase response|cholesterol metabolic process|lipid transport|lipoprotein metabolic process|maternal process involved in female pregnancy|multicellular organismal development endoplasmic reticulum membrane|extracellular region high-density lipoprotein particle binding|lipid binding|receptor binding 0 TGCCTCTGTGGACCTGCTCAA 0.552 SCN5A 6331 broad.mit.edu 37 3 38651268 38651268 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:38651268G>A uc003cio.2 - 7 1085 c.891C>T c.(889-891)GAC>GAT p.D297D SCN5A_uc003cin.2_Silent_p.D297D|SCN5A_uc003cil.3_Silent_p.D297D|SCN5A_uc010hhi.2_Silent_p.D297D|SCN5A_uc010hhk.2_Silent_p.D297D|SCN5A_uc011ayr.1_Silent_p.D297D|SCN5A_uc010hhl.1_Silent_p.D120D NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 297 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) AGACCAAGCCGTCGGCCTCCA 0.602 SCN10A 6336 broad.mit.edu 37 3 38783917 38783917 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:38783917A>C uc003ciq.2 - 13 1971 c.1971T>G c.(1969-1971)ATT>ATG p.I657M NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 657 sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 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) GCCCAAAGAGAATTGTCTTGA 0.532 GRM2 2912 broad.mit.edu 37 3 51746690 51746690 + Missense_Mutation SNP G G A rs143196180 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:51746690G>A uc010hlv.2 + 3 891 c.652G>A c.(652-654)GAG>AAG p.E218K GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 218 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) CGACTATGGCGAGACAGGCAT 0.592 PPP4R2 151987 broad.mit.edu 37 3 73108206 73108206 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:73108206G>T uc003dph.1 + 4 376 c.306G>T c.(304-306)CAG>CAT p.Q102H PPP4R2_uc003dpi.1_Missense_Mutation_p.Q45H|FLJ10213_uc003dpj.2_5'Flank NM_174907 NP_777567 Q9NY27 PP4R2_HUMAN protein phosphatase 4, regulatory subunit 2 102 mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing centrosome|nucleus|protein phosphatase 4 complex protein binding, bridging|protein phosphatase type 4 regulator activity lung(1) 1 Prostate(10;0.0187)|Lung SC(41;0.236) Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031) TTACTATTCAGCGACTATGTG 0.308 CNTN3 5067 broad.mit.edu 37 3 74411082 74411082 + Silent SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:74411082A>C uc003dpm.1 - 10 1403 c.1323T>G c.(1321-1323)TCT>TCG p.S441S NM_020872 NP_065923 Q9P232 CNTN3_HUMAN contactin 3 precursor 441 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding breast(3)|ovary(1)|skin(1) 5 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) TCTTCCAGGAAGAGAGTGCCC 0.478 ROBO1 6091 broad.mit.edu 37 3 78649331 78649331 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:78649331T>G uc003dqe.2 - 30 5081 c.4873A>C c.(4873-4875)AGA>CGA p.R1625R ROBO1_uc003dqb.2_Silent_p.R1586R|ROBO1_uc003dqc.2_Silent_p.R1525R|ROBO1_uc003dqd.2_Silent_p.R1580R|ROBO1_uc010hoh.2_Silent_p.R817R NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 1625 Cytoplasmic (Potential). 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|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 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) GCAATATTTCTTCGACCTACA 0.373 BCHE 590 broad.mit.edu 37 3 165503945 165503945 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:165503945A>C uc003fem.3 - 3 1832 c.1672T>G c.(1672-1674)TTG>GTG p.L558V BCHE_uc003fen.3_RNA NM_000055 NP_000046 P06276 CHLE_HUMAN butyrylcholinesterase precursor 558 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding ovary(3)|pancreas(1) 4 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) GTCATTTCCAAGACTTTTGGA 0.358 ATP11B 23200 broad.mit.edu 37 3 182631761 182631761 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr3:182631761G>A uc003flb.2 + 29 3688 c.3431G>A c.(3430-3432)TGT>TAT p.C1144Y ATP11B_uc003flc.2_Missense_Mutation_p.C728Y|ATP11B_uc010hxg.2_RNA|ATP11B_uc010hxh.1_3'UTR NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 1144 Cytoplasmic (Potential). aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|pancreas(1) 3 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) ATAGGAAGATGTAGTCCAACC 0.483 MAEA 10296 broad.mit.edu 37 4 1316182 1316182 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr4:1316182T>C uc003gda.2 + 4 500 c.470T>C c.(469-471)ATT>ACT p.I157T MAEA_uc010ibs.1_Intron|MAEA_uc003gdb.2_Intron|MAEA_uc011bvb.1_Missense_Mutation_p.I89T|MAEA_uc003gdc.2_Intron|MAEA_uc003gdd.2_Intron|MAEA_uc011bvc.1_Missense_Mutation_p.I156T|MAEA_uc011bvd.1_Missense_Mutation_p.I109T|MAEA_uc010ibt.2_Intron NM_001017405 NP_001017405 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher isoform 1 157 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 ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(23;0.0201) CTAGTGAATATTGAGATGTTC 0.607 PSAPL1 768239 broad.mit.edu 37 4 7436039 7436039 + Nonsense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr4:7436039G>A uc011bwj.1 - 1 662 c.568C>T c.(568-570)CAG>TAG p.Q190* SORCS2_uc003gkb.3_Intron|SORCS2_uc011bwi.1_Intron NM_001085382 NP_001078851 Q6NUJ1 SAPL1_HUMAN prosaposin-like protein 1 190 Saposin B-type 2. sphingolipid metabolic process extracellular region|lysosome 0 CGGGAGACCTGCCGTACACAG 0.632 ADAMTS3 9508 broad.mit.edu 37 4 73148877 73148877 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr4:73148877T>G uc003hgk.1 - 22 3631 c.3594A>C c.(3592-3594)ACA>ACC p.T1198T NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 1198 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGGATGATCTTGTCGGACGTC 0.443 MMRN1 22915 broad.mit.edu 37 4 90849051 90849051 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr4:90849051A>C uc003hst.2 + 5 1132 c.1061A>C c.(1060-1062)AAC>ACC p.N354T MMRN1_uc010iku.2_Missense_Mutation_p.N320T|MMRN1_uc011cds.1_Missense_Mutation_p.N96T NM_007351 NP_031377 Q13201 MMRN1_HUMAN multimerin 1 354 Potential. cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen ovary(4) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GATGTAAGGAACACTTACTCC 0.333 TTC29 83894 broad.mit.edu 37 4 147724808 147724808 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr4:147724808A>C uc003ikw.3 - 11 1358 c.1131T>G c.(1129-1131)TTT>TTG p.F377L TTC29_uc010ipc.2_RNA|TTC29_uc003ikx.3_Missense_Mutation_p.F403L|TTC29_uc010ipd.1_Missense_Mutation_p.F377L NM_031956 NP_114162 Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 377 TPR 5. binding 0 all_hematologic(180;0.151) AAGCTTGCTGAAAGCATTCAG 0.353 TRIML2 205860 broad.mit.edu 37 4 189012589 189012589 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr4:189012589T>G uc003izl.2 - 7 1138 c.1102A>C c.(1102-1104)AGT>CGT p.S368R TRIML2_uc003izj.1_Missense_Mutation_p.S196R|TRIML2_uc003izk.1_Missense_Mutation_p.S176R|TRIML2_uc011cle.1_Missense_Mutation_p.S443R NM_173553 NP_775824 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 368 B30.2/SPRY. ligase activity central_nervous_system(2) 2 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GAGTCTGGACTTGTGTCTCCA 0.473 MYO10 4651 broad.mit.edu 37 5 16701398 16701398 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr5:16701398T>G uc003jft.3 - 25 3574 c.3106A>C c.(3106-3108)ATG>CTG p.M1036L MYO10_uc011cnc.1_5'Flank|MYO10_uc011cnd.1_Missense_Mutation_p.M393L|MYO10_uc011cne.1_Missense_Mutation_p.M393L|MYO10_uc010itx.2_Missense_Mutation_p.M659L NM_012334 NP_036466 Q9HD67 MYO10_HUMAN myosin X 1036 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity ovary(2)|pancreas(1) 3 GTGTCGTTCATGTATGGGTCC 0.642 CDH18 1016 broad.mit.edu 37 5 19503122 19503122 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr5:19503122A>C uc003jgc.2 - 10 1986 c.1609T>G c.(1609-1611)TTC>GTC p.F537V CDH18_uc003jgd.2_Missense_Mutation_p.F537V|CDH18_uc011cnm.1_Missense_Mutation_p.F537V NM_004934 NP_004925 Q13634 CAD18_HUMAN cadherin 18, type 2 preproprotein 537 Extracellular (Potential).|Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(5)|large_intestine(1)|skin(1) 7 Lung NSC(1;0.00734)|all_lung(1;0.0197) TTCAGAGTGAAGTTTGGATTT 0.343 ADAMTS12 81792 broad.mit.edu 37 5 33891855 33891855 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr5:33891855C>T uc003jia.1 - 1 270 c.107G>A c.(106-108)CGC>CAC p.R36H ADAMTS12_uc010iuq.1_Missense_Mutation_p.R36H|ADAMTS12_uc003jib.1_Missense_Mutation_p.R36H NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 36 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 GTCCGGGAAGCGAACCGGGCC 0.532 HNSCC(64;0.19) SPEF2 79925 broad.mit.edu 37 5 35807336 35807336 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr5:35807336A>G uc003jjo.2 + 36 5471 c.5360A>G c.(5359-5361)TAT>TGT p.Y1787C SPEF2_uc003jjp.1_Missense_Mutation_p.Y1273C|SPEF2_uc003jjr.2_Missense_Mutation_p.Y842C NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1787 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATTTCAAATTATTCAGACTAT 0.403 C5orf42 65250 broad.mit.edu 37 5 37198821 37198821 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr5:37198821T>G uc011cpa.1 - 20 3886 c.3655A>C c.(3655-3657)AGA>CGA p.R1219R C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.R294R|C5orf42_uc011cpb.1_Silent_p.R100R NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 1219 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATGACTTTTCTTGCCCACCTC 0.363 PCDHB10 56126 broad.mit.edu 37 5 140572774 140572774 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr5:140572774G>A uc003lix.2 + 1 823 c.649G>A c.(649-651)GGT>AGT p.G217S NM_018930 NP_061753 Q9UN67 PCDBA_HUMAN protocadherin beta 10 precursor 217 Cadherin 2.|Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCGCTGGATGGTGGGTCTCC 0.547 IRF4 3662 broad.mit.edu 37 6 401485 401485 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:401485C>T uc003msz.3 + 7 920 c.807C>T c.(805-807)TCC>TCT p.S269S IRF4_uc010jne.1_Silent_p.S269S|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Silent_p.S268S|IRF4_uc003mtc.1_Silent_p.S99S NM_002460 NP_002451 Q15306 IRF4_HUMAN interferon regulatory factor 4 269 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding ovary(1) 1 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) TGACCACGTCCAGCCCCGAGG 0.602 T IGH@ MM KIAA1949 170954 broad.mit.edu 37 6 30652350 30652350 + Silent SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:30652350A>C uc003nra.2 - 2 1677 c.1446T>G c.(1444-1446)CCT>CCG p.P482P KIAA1949_uc003nrb.3_Silent_p.P482P NM_001134870 NP_001128342 Q6NYC8 PHTNS_HUMAN phostensin 482 cytoplasm|cytoskeleton actin binding 0 CTGGGGTCGCAGGGGGCACAG 0.677 DNAH8 1769 broad.mit.edu 37 6 38834386 38834386 + Missense_Mutation SNP G G A rs139579198 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:38834386G>A uc003ooe.1 + 44 6467 c.5867G>A c.(5866-5868)CGC>CAC p.R1956H NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TATGCTGGGCGCCAGGAACTA 0.323 HTR1E 3354 broad.mit.edu 37 6 87725376 87725376 + Nonsense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:87725376C>A uc003pli.2 + 2 1027 c.324C>A c.(322-324)TGC>TGA p.C108* NM_000865 NP_000856 P28566 5HT1E_HUMAN 5-hydroxytryptamine (serotonin) receptor 1E 108 Helical; Name=3; (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane protein binding|serotonin binding|serotonin receptor activity ovary(2)|skin(1) 3 all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819) BRCA - Breast invasive adenocarcinoma(108;0.055) Eletriptan(DB00216) GCTGCACCTGCTCCATCCTCC 0.562 SFRS13B 135295 broad.mit.edu 37 6 89816961 89816961 + Missense_Mutation SNP G G A rs138061111 by1000genomes TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:89816961G>A uc003pmy.3 - 2 276 c.82C>T c.(82-84)CGT>TGT p.R28C NM_080743 NP_542781 Q8WXF0 SRS12_HUMAN serine-arginine repressor protein 28 RRM. assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm nucleotide binding|RNA binding|RS domain binding|unfolded protein binding 0 CCAAACTCACGGCGCAAGTCC 0.398 IGF2R 3482 broad.mit.edu 37 6 160485874 160485874 + Missense_Mutation SNP G G C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:160485874G>C uc003qta.2 + 29 4204 c.4056G>C c.(4054-4056)TTG>TTC p.L1352F NM_000876 NP_000867 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor precursor 1352 9.|Lumenal (Potential). receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity ovary(3) 3 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) GTTCCTACTTGTTTGAGTGGC 0.378 SDK1 221935 broad.mit.edu 37 7 4014046 4014046 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:4014046G>A uc003smx.2 + 13 2002 c.1863G>A c.(1861-1863)ACG>ACA p.T621T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 621 Ig-like C2-type 6. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CATCGAGCACGTCTAGGATCG 0.547 ABCA13 154664 broad.mit.edu 37 7 48654929 48654929 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:48654929C>T uc003toq.2 + 59 14818 c.14793C>T c.(14791-14793)AAC>AAT p.N4931N ABCA13_uc010kys.1_Silent_p.N2006N|ABCA13_uc010kyt.1_RNA|ABCA13_uc010kyu.1_Silent_p.N661N NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4931 ABC transporter 2. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 TAATGGTTAACGGCAGCTTCA 0.423 MAGI2 9863 broad.mit.edu 37 7 77885499 77885499 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:77885499A>G uc003ugx.2 - 10 2062 c.1808T>C c.(1807-1809)CTT>CCT p.L603P MAGI2_uc003ugy.2_Missense_Mutation_p.L603P|MAGI2_uc010ldx.1_Missense_Mutation_p.L212P|MAGI2_uc010ldy.1_Missense_Mutation_p.L212P|MAGI2_uc011kgr.1_Missense_Mutation_p.L435P|MAGI2_uc011kgs.1_Missense_Mutation_p.L440P NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 603 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TAAGGTCATAAGTTCAGCTTG 0.522 PCLO 27445 broad.mit.edu 37 7 82582248 82582248 + Missense_Mutation SNP A A G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:82582248A>G uc003uhx.2 - 5 8310 c.8021T>C c.(8020-8022)GTT>GCT p.V2674A PCLO_uc003uhv.2_Missense_Mutation_p.V2674A|PCLO_uc010lec.2_5'Flank NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 2605 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGTCTTGGAAACTTCAGTAGT 0.458 PCLO 27445 broad.mit.edu 37 7 82584865 82584865 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:82584865T>C uc003uhx.2 - 5 5693 c.5404A>G c.(5404-5406)AGT>GGT p.S1802G PCLO_uc003uhv.2_Missense_Mutation_p.S1802G NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1733 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTACTAGAACTCTTTCTTTGT 0.373 SAMD9L 219285 broad.mit.edu 37 7 92760645 92760645 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:92760645G>T uc003umh.1 - 5 5856 c.4640C>A c.(4639-4641)CCA>CAA p.P1547Q SAMD9L_uc003umj.1_Missense_Mutation_p.P1547Q|SAMD9L_uc003umi.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.P1547Q|SAMD9L_uc003umk.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.P1547Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.P1547Q|SAMD9L_uc011khx.1_3'UTR NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 1547 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) AGATATTACTGGTATTTTTAT 0.393 TRRAP 8295 broad.mit.edu 37 7 98574180 98574180 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:98574180G>A uc003upp.2 + 54 8222 c.8013G>A c.(8011-8013)GCG>GCA p.A2671A TRRAP_uc011kis.1_Silent_p.A2653A|TRRAP_uc003upr.2_Silent_p.A2370A NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 2671 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|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 ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 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) AGCCCAGCGCGCTGAACTGCT 0.587 PCOLCE 5118 broad.mit.edu 37 7 100204069 100204069 + Silent SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:100204069C>A uc003uvo.2 + 6 954 c.756C>A c.(754-756)CTC>CTA p.L252L uc011kjy.1_5'Flank|PCOLCE_uc010lhb.1_RNA|PCOLCE_uc003uvp.1_RNA NM_002593 NP_002584 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 252 CUB 2. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity 0 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) ATGAACTCCTCGTCCAGTTCG 0.627 CUX1 1523 broad.mit.edu 37 7 101813812 101813812 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:101813812C>G uc003uyx.3 + 10 848 c.810C>G c.(808-810)ATC>ATG p.I270M CUX1_uc003uys.3_Missense_Mutation_p.I281M|CUX1_uc003uyt.2_Missense_Mutation_p.I281M|CUX1_uc011kkn.1_Missense_Mutation_p.I244M|CUX1_uc003uyw.2_Missense_Mutation_p.I235M|CUX1_uc003uyv.2_Missense_Mutation_p.I265M|CUX1_uc003uyu.2_Missense_Mutation_p.I281M NM_181552 NP_853530 P39880 CUX1_HUMAN cut-like homeobox 1 isoform a 270 Potential. negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 CCTCACAGATCCAGAAGGCAC 0.607 SLC26A4 5172 broad.mit.edu 37 7 107341590 107341590 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:107341590G>A uc003vep.2 + 16 1976 c.1752G>A c.(1750-1752)GCG>GCA p.A584A SLC26A4_uc011kmb.1_Silent_p.A171A|SLC26A4_uc011kmc.1_Silent_p.A145A|SLC26A4_uc011kmd.1_Silent_p.A153A NM_000441 NP_000432 O43511 S26A4_HUMAN pendrin 584 STAS.|Cytoplasmic (Potential). regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity ovary(3)|central_nervous_system(2)|skin(2) 7 GGCTGAAAGCGCTGAGGAAAA 0.343 Pendred_syndrome PPP1R3A 5506 broad.mit.edu 37 7 113519745 113519745 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:113519745T>C uc010ljy.1 - 4 1433 c.1402A>G c.(1402-1404)AAA>GAA p.K468E NM_002711 NP_002702 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory (inhibitor) 468 glycogen metabolic process integral to membrane lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1) 34 TCATGTTTTTTATTAAGGTTT 0.398 KCND2 3751 broad.mit.edu 37 7 119915642 119915642 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr7:119915642G>A uc003vjj.1 + 1 1921 c.956G>A c.(955-957)AGT>AAT p.S319N NM_012281 NP_036413 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related 319 Cytoplasmic (Potential). regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding ovary(2)|central_nervous_system(2)|skin(1) 5 all_neural(327;0.117) ACACTGAAGAGTTGTGCCTCA 0.522 WRN 7486 broad.mit.edu 37 8 30938648 30938648 + Nonsense_Mutation SNP C C T rs17847577 TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:30938648C>T uc003xio.3 + 9 1893 c.1105C>T c.(1105-1107)CGA>TGA p.R369* WRN_uc011lbd.1_Nonsense_Mutation_p.R72*|WRN_uc011lbe.1_5'Flank NM_000553 NP_000544 Q14191 WRN_HUMAN Werner syndrome protein 369 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1) 7 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) TAAAGTGGAACGAAAAGAAGA 0.343 Mis|N|F|S osteosarcoma|meningioma|others Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Werner_syndrome NRG1 3084 broad.mit.edu 37 8 31498085 31498085 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:31498085C>T uc003xip.2 + 1 818 c.585C>T c.(583-585)TCC>TCT p.S195S NM_013962 NP_039256 Q02297 NRG1_HUMAN neuregulin 1 isoform GGF2 Error:Variant_position_missing_in_Q02297_after_alignment activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity 0 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CCTTCCCCTCCTGCGGGAGGC 0.682 VCPIP1 80124 broad.mit.edu 37 8 67577705 67577705 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:67577705T>C uc003xwn.2 - 1 1748 c.1489A>G c.(1489-1491)AGT>GGT p.S497G SGK3_uc003xwp.2_5'Flank|C8orf44_uc003xwo.1_5'Flank NM_025054 NP_079330 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex 497 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity lung(2)|ovary(2)|central_nervous_system(1)|breast(1)|skin(1)|kidney(1) 8 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) CCATGAGTACTTTTTGCCAGG 0.428 PRDM14 63978 broad.mit.edu 37 8 70981763 70981763 + Silent SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:70981763C>A uc003xym.2 - 2 535 c.333G>T c.(331-333)GTG>GTT p.V111V NM_024504 NP_078780 Q9GZV8 PRD14_HUMAN PR domain containing 14 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3) 3 Breast(64;0.193) Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405) GGAAGGGCGGCACTTCCCTGG 0.627 KCNB2 9312 broad.mit.edu 37 8 73480224 73480224 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:73480224C>G uc003xzb.2 + 2 843 c.255C>G c.(253-255)AAC>AAG p.N85K NM_004770 NP_004761 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related 85 Cytoplasmic (Potential). regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding skin(3)|large_intestine(1)|pancreas(1)|ovary(1)|central_nervous_system(1) 7 Breast(64;0.137) Epithelial(68;0.105) TGAACGAGAACGAGTATTTCT 0.512 CNBD1 168975 broad.mit.edu 37 8 88296940 88296940 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:88296940T>G uc003ydy.2 + 7 854 c.806T>G c.(805-807)GTT>GGT p.V269G NM_173538 NP_775809 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 269 ovary(3) 3 ACTCTGGAAGTTATGCCTCAG 0.388 DPYS 1807 broad.mit.edu 37 8 105436539 105436539 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:105436539T>C uc003yly.3 - 7 1300 c.1171A>G c.(1171-1173)AGA>GGA p.R391G NM_001385 NP_001376 Q14117 DPYS_HUMAN dihydropyrimidinase 391 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) CTTCCTTTTCTTGGATAGAGA 0.373 ZFPM2 23414 broad.mit.edu 37 8 106813482 106813482 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:106813482T>G uc003ymd.2 + 8 1195 c.1172T>G c.(1171-1173)CTT>CGT p.L391R ZFPM2_uc011lhs.1_Missense_Mutation_p.L122R|uc003yme.1_5'Flank NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 391 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) AGCGGCAAACTTCCCAGAGAA 0.517 SYBU 55638 broad.mit.edu 37 8 110592127 110592127 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:110592127T>G uc003ynj.3 - 5 798 c.635A>C c.(634-636)CAG>CCG p.Q212P SYBU_uc003yni.3_Missense_Mutation_p.Q209P|SYBU_uc003ynk.3_Missense_Mutation_p.Q93P|SYBU_uc010mco.2_Missense_Mutation_p.Q211P|SYBU_uc003ynl.3_Missense_Mutation_p.Q211P|SYBU_uc010mcp.2_Missense_Mutation_p.Q212P|SYBU_uc010mcq.2_Missense_Mutation_p.Q212P|SYBU_uc003yno.3_Missense_Mutation_p.Q93P|SYBU_uc010mcr.2_Missense_Mutation_p.Q212P|SYBU_uc003ynm.3_Missense_Mutation_p.Q211P|SYBU_uc003ynn.3_Missense_Mutation_p.Q211P|SYBU_uc010mcs.2_Missense_Mutation_p.Q93P|SYBU_uc010mct.2_Missense_Mutation_p.Q212P|SYBU_uc010mcu.2_Missense_Mutation_p.Q211P|SYBU_uc003ynp.3_Missense_Mutation_p.Q144P|SYBU_uc010mcv.2_Missense_Mutation_p.Q212P|SYBU_uc003ynh.3_Missense_Mutation_p.Q6P|SYBU_uc011lhw.1_Missense_Mutation_p.Q82P NM_001099754 NP_001093224 Q9NX95 SYBU_HUMAN Golgi-localized syntaphilin-related protein 212 Sufficient for interaction with KIF5B.|Ser-rich. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane ovary(1) 1 AGGGCTCAGCTGATTCCTGCA 0.557 CSMD3 114788 broad.mit.edu 37 8 113933891 113933891 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:113933891A>C uc003ynu.2 - 10 1757 c.1598T>G c.(1597-1599)TTT>TGT p.F533C CSMD3_uc003ynt.2_Missense_Mutation_p.F493C|CSMD3_uc011lhx.1_Missense_Mutation_p.F429C NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 533 Extracellular (Potential).|Sushi 2. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCAAGCAGCAAAAACTTCAGC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) TRPS1 7227 broad.mit.edu 37 8 116426893 116426893 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr8:116426893T>C uc003ynz.2 - 6 3663 c.3204A>G c.(3202-3204)ATA>ATG p.I1068M TRPS1_uc011lhy.1_Missense_Mutation_p.I1072M|TRPS1_uc003yny.2_Missense_Mutation_p.I1081M|TRPS1_uc010mcy.2_Missense_Mutation_p.I1068M NM_014112 NP_054831 Q9UHF7 TRPS1_HUMAN zinc finger transcription factor TRPS1 1068 Mediates interaction with RNF4 (By similarity). negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2)|skin(2)|pancreas(1)|lung(1)|kidney(1) 7 all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219) Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12) TGTACTTTTCTATAGGACTGC 0.428 Langer-Giedion_syndrome PTPRD 5789 broad.mit.edu 37 9 8389280 8389280 + Silent SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:8389280T>C uc003zkk.2 - 36 5049 c.4338A>G c.(4336-4338)CAA>CAG p.Q1446Q PTPRD_uc003zkp.2_Silent_p.Q1040Q|PTPRD_uc003zkq.2_Silent_p.Q1039Q|PTPRD_uc003zkr.2_Silent_p.Q1030Q|PTPRD_uc003zks.2_Silent_p.Q1039Q|PTPRD_uc003zkl.2_Silent_p.Q1437Q|PTPRD_uc003zkm.2_Silent_p.Q1433Q|PTPRD_uc003zkn.2_Silent_p.Q1035Q|PTPRD_uc003zko.2_Silent_p.Q1036Q NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1446 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 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) TGGCACTCCGTTGTTCCCATA 0.413 TSP Lung(15;0.13) CDKN2A 1029 broad.mit.edu 37 9 21971000 21971000 + Nonsense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:21971000C>A uc003zpk.2 - 2 570 c.358G>T c.(358-360)GAG>TAG p.E120* MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR NM_000077 NP_000068 P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A isoform 1 120 ANK 4. E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1) haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1) 3678 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) TGGCCCAGCTCCTCAGCCAGG 0.726 17 Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) TMEM215 401498 broad.mit.edu 37 9 32784496 32784496 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:32784496G>A uc003zri.3 + 2 680 c.315G>A c.(313-315)AAG>AAA p.K105K NM_212558 NP_997723 Q68D42 TM215_HUMAN transmembrane protein 215 105 integral to membrane 0 AATCCGGCAAGGGGAGCTCAG 0.612 FBP1 2203 broad.mit.edu 37 9 97369109 97369109 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:97369109C>T uc004auw.3 - 5 1024 c.693G>A c.(691-693)AAG>AAA p.K231K FBP1_uc010mrl.2_Silent_p.K231K NM_000507 NP_000498 P09467 F16P1_HUMAN fructose-1,6-bisphosphatase 1 231 gluconeogenesis cytosol fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding 0 Acute lymphoblastic leukemia(62;0.136) Adenosine monophosphate(DB00131) GGGGGAACTTCTTCCTCTGGA 0.562 MUSK 4593 broad.mit.edu 37 9 113550077 113550077 + Missense_Mutation SNP T T C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:113550077T>C uc004bey.2 + 13 1984 c.1886T>C c.(1885-1887)CTC>CCC p.L629P MUSK_uc004bez.1_Missense_Mutation_p.L209P NM_005592 NP_005583 O15146 MUSK_HUMAN skeletal muscle receptor tyrosine kinase 629 Protein kinase.|Cytoplasmic (Potential). transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity lung(3)|ovary(2)|central_nervous_system(1) 6 GAGGCAGCCCTCATGGCAGAA 0.428 SPTAN1 6709 broad.mit.edu 37 9 131329241 131329241 + Missense_Mutation SNP C C G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:131329241C>G uc004bvl.3 + 2 335 c.222C>G c.(220-222)GAC>GAG p.D74E SPTAN1_uc011mbg.1_Missense_Mutation_p.D74E|SPTAN1_uc011mbh.1_Missense_Mutation_p.D86E|SPTAN1_uc004bvm.3_Missense_Mutation_p.D74E|SPTAN1_uc004bvn.3_Missense_Mutation_p.D74E NM_003127 NP_003118 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 74 Spectrin 2. actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton breast(5)|ovary(4)|pancreas(1) 10 ATTATAAAGACCCAACCAACT 0.398 ABL1 25 broad.mit.edu 37 9 133738348 133738348 + Missense_Mutation SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:133738348G>A uc004bzw.2 + 4 751 c.748G>A c.(748-750)GGG>AGG p.G250R ABL1_uc004bzv.2_Missense_Mutation_p.G269R|uc004bzx.1_5'Flank NM_005157 NP_005148 P00519 ABL1_HUMAN c-abl oncogene 1, receptor tyrosine kinase 250 Protein kinase.|ATP. actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding p.G250E(72) haematopoietic_and_lymphoid_tissue(807)|lung(5)|stomach(2)|central_nervous_system(1)|breast(1)|skin(1) 817 all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.4e-05) Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619) CAAGCTGGGCGGGGGCCAGTA 0.612 T|Mis BCR|ETV6|NUP214 CML|ALL|T-ALL DBH 1621 broad.mit.edu 37 9 136501612 136501612 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr9:136501612C>T uc004cel.2 + 1 128 c.119C>T c.(118-120)TCG>TTG p.S40L NM_000787 NP_000778 P09172 DOPO_HUMAN dopamine beta hydroxylase precursor 40 Intragranular (Potential). hormone biosynthetic process chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane dopamine beta-monooxygenase activity|L-ascorbic acid binding ovary(2)|central_nervous_system(2) 4 OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05) Dopamine(DB00988)|Vitamin C(DB00126) CTGCAGGGCTCGGCTCCCCGT 0.662 SCML2 10389 broad.mit.edu 37 X 18352182 18352182 + Missense_Mutation SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:18352182T>G uc004cyl.2 - 2 167 c.10A>C c.(10-12)ACA>CCA p.T4P SCML2_uc004cyk.3_RNA|SCML2_uc010nfd.1_Missense_Mutation_p.T4P|SCML2_uc011miz.1_5'UTR NM_006089 NP_006080 Q9UQR0 SCML2_HUMAN sex comb on midleg-like 2 4 anatomical structure morphogenesis PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Hepatocellular(33;0.183) TCATTCACTGTTTGTCCCATG 0.328 MAGEB4 4115 broad.mit.edu 37 X 30261268 30261268 + Missense_Mutation SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:30261268C>T uc004dcb.2 + 1 1100 c.1016C>T c.(1015-1017)TCC>TTC p.S339F MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 339 ovary(1) 1 AGGGCCACATCCAGTAGCTCT 0.512 KLHL4 56062 broad.mit.edu 37 X 86877393 86877393 + Silent SNP T T G TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:86877393T>G uc004efb.2 + 5 1289 c.1107T>G c.(1105-1107)TCT>TCG p.S369S KLHL4_uc004efa.2_Silent_p.S369S NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 369 cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 TGCTGCTTTCTTACATCAGAC 0.413 NAP1L3 4675 broad.mit.edu 37 X 92927344 92927344 + Silent SNP C C T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:92927344C>T uc004efq.2 - 1 1265 c.960G>A c.(958-960)AAG>AAA p.K320K FAM133A_uc004efr.1_5'Flank NM_004538 NP_004529 Q99457 NP1L3_HUMAN nucleosome assembly protein 1-like 3 320 nucleosome assembly chromatin assembly complex ovary(1)|skin(1) 2 TGTCAACATTCTTTAAAACAA 0.438 NRK 203447 broad.mit.edu 37 X 105190451 105190451 + Missense_Mutation SNP A A C TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:105190451A>C uc004emd.2 + 26 4651 c.4348A>C c.(4348-4350)AAG>CAG p.K1450Q NRK_uc011msi.1_5'Flank NM_198465 NP_940867 Q7Z2Y5 NRK_HUMAN Nik related kinase 1450 CNH. ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1) 14 GACCCTGCCAAAGAATGTAAG 0.348 HNSCC(51;0.14) SPANXN3 139067 broad.mit.edu 37 X 142596856 142596856 + Missense_Mutation SNP G G T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:142596856G>T uc004fbw.2 - 2 302 c.214C>A c.(214-216)CAG>AAG p.Q72K NM_001009609 NP_001009609 Q5MJ09 SPXN3_HUMAN SPANX-N3 protein 72 ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TCTTGGGACTGTTCATTCTCC 0.388 AFF2 2334 broad.mit.edu 37 X 147743836 147743836 + Missense_Mutation SNP C C A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:147743836C>A uc004fcp.2 + 3 1067 c.588C>A c.(586-588)TTC>TTA p.F196L AFF2_uc004fco.2_Missense_Mutation_p.F192L|AFF2_uc004fcq.2_Missense_Mutation_p.F192L|AFF2_uc004fcr.2_Missense_Mutation_p.F192L|AFF2_uc011mxb.1_Missense_Mutation_p.F196L|AFF2_uc004fcs.2_Missense_Mutation_p.F192L NM_002025 NP_002016 P51816 AFF2_HUMAN fragile X mental retardation 2 196 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding ovary(3)|pancreas(2) 5 Acute lymphoblastic leukemia(192;6.56e-05) TGGAAGACTTCTTTGTCTACC 0.483 FLNA 2316 broad.mit.edu 37 X 153592921 153592921 + Silent SNP G G A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chrX:153592921G>A uc004fkk.2 - 13 2244 c.1995C>T c.(1993-1995)GAC>GAT p.D665D FLNA_uc010nuu.1_Silent_p.D665D NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 665 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-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) CCTGGGGCGCGTCACGGATGT 0.622 ZNF267 10308 broad.mit.edu 37 16 31926651 31926652 + Frame_Shift_Ins INS - - T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr16:31926651_31926652insT uc002ecs.3 + 4 1290_1291 c.1081_1082insT c.(1081-1083)CTTfs p.L361fs NM_003414 NP_003405 Q14586 ZN267_HUMAN zinc finger protein 267 361 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|breast(1)|skin(1) 4 GGTCTTTAACCTTAACTGTAGT 0.371 CNOT3 4849 broad.mit.edu 37 19 54659088 54659090 + In_Frame_Del DEL GAA GAA - TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr19:54659088_54659090delGAA uc002qdj.1 + 18 2516_2518 c.2205_2207delGAA c.(2203-2208)CGGAAG>CGG p.K737del CNOT3_uc002qdi.2_3'UTR|CNOT3_uc002qdk.1_In_Frame_Del_p.K737del|CNOT3_uc010ere.1_RNA NM_014516 NP_055331 O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 737 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGGGCCAGCGGAAGAAGGAAGGC 0.635 NKAPL 222698 broad.mit.edu 37 6 28227881 28227882 + Frame_Shift_Ins INS - - A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:28227881_28227882insA uc003nkt.2 + 1 784_785 c.732_733insA c.(730-735)ACCAAAfs p.T244fs ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN NFKB activating protein-like 244_245 Lys-rich. upper_aerodigestive_tract(1)|ovary(1) 2 ataagaaAACCAAAAAAGAATC 0.292 NKAPL 222698 broad.mit.edu 37 6 28227882 28227883 + Frame_Shift_Ins INS - - A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr6:28227881_28227882C>CA uc003nkt.3 + 0 784_785 c.732_733C>CA c.(730-735)accaaafs p.T244fs ZKSCAN4_uc011dlb.1_5'Flank NM_001007531 NP_001007532 Q5M9Q1 NKAPL_HUMAN Homo sapiens NFKB activating protein-like (NKAPL), mRNA. 244 Lys-rich. breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 ataagaaAACCAAAAAAGAATC 0.351 CUBN 8029 broad.mit.edu 37 10 17165610 17165611 + Frame_Shift_Ins INS - - A TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr10:17165609_17165610C>CA uc001ioo.3 - 4 518_519 c.466_467G>TG c.(466-468)tgtfs p.C156fs NM_001081 NP_001072 O60494 CUBN_HUMAN Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA. 156 EGF-like 1. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GGGACAGATACAAAAAAAGGAA 0.436 ZNF267 10308 broad.mit.edu 37 16 31926652 31926653 + Frame_Shift_Ins INS - - T TCGA-IN-8663-01A-11D-2394-08 TCGA-IN-8663-10A-01D-2394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2d623764-e721-4047-95f9-0dd043773c44 4a5a7732-c13b-4cc3-8243-02024427c433 g.chr16:31926651_31926652C>CT uc002ecs.4 + 3 1290_1291 c.1081_1082C>CT c.(1081-1083)cttfs p.L361fs NM_003414 NP_003405 Q14586 ZN267_HUMAN Homo sapiens zinc finger protein 267 (ZNF267), transcript variant 498723, mRNA. 361 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 41 GGTCTTTAACCTTAACTGTAGT 0.371