Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut ANAPC4 29945 broad.mit.edu 37 4 25384881 25384881 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:25384881A>T ENST00000315368.3 + 4 377 c.e4-1 ANAPC4_ENST00000510092.1_Splice_Site NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TTCTTGTTTTAGTTTTGGCCT 0.343000 5 81 0 0 1 0 0 CRCP 27297 broad.mit.edu 37 7 65579857 65579857 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:65579857C>G ENST00000431089.2 + 1 45 c.42C>G c.(40-42)agC>agG p.S14R CRCP_ENST00000398684.2_5'UTR|CRCP_ENST00000395326.3_5'UTR|CRCP_ENST00000338592.5_5'UTR|AC068533.7_ENST00000450043.1_Intron NM_001142414.1 NP_001135886.1 O75575 RPC9_HUMAN CGRP receptor component 0 acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter DNA polymerase III complex|nucleus|plasma membrane calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding cervix(1)|kidney(1)|lung(4) 6 GCGCGCGGAGCTGGCACCTTG 0.682000 38 42 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9085464 9085464 + Silent SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:9085464G>A ENST00000397910.4 - 1 6554 c.6351C>T c.(6349-6351)gcC>gcT p.A2117A NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2117 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 AAGTACTCGCGGCTGTATTCT 0.488000 6 774 0 0 1 0 0 SAMD4B 55095 broad.mit.edu 37 19 39868378 39868378 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:39868378C>T ENST00000314471.6 + 10 2393 c.1358C>T c.(1357-1359)cCa>cTa p.P453L SAMD4B_ENST00000598913.1_Missense_Mutation_p.P453L|SAMD4B_ENST00000596368.1_Intron NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 453 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCACCAGCTCCAGCTCCCACT 0.657000 89 176 0 0 1 0 0 SETD5 55209 broad.mit.edu 37 3 9517301 9517301 + Silent SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:9517301C>T ENST00000402466.1 + 24 4329 c.3561C>T c.(3559-3561)ccC>ccT p.P1187P SETD5_ENST00000406341.1_Silent_p.P1285P|SETD5_ENST00000402198.1_Silent_p.P1285P|SETD5_ENST00000407969.1_Silent_p.P1304P|SETD5_ENST00000302463.6_Silent_p.P1187P Q9C0A6 SETD5_HUMAN SET domain containing 5 1285 Ser-rich. NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Medulloblastoma(99;0.227) OV - Ovarian serous cystadenocarcinoma(96;0.112) GAAACCCCCCCTCTCACGGTT 0.557000 4 447 0 0 1 0 0 UGT2A2 574537 broad.mit.edu 37 4 70505335 70505335 + Silent SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:70505335G>A ENST00000457664.2 - 1 23 c.24C>T c.(22-24)acC>acT p.T8T UGT2A1_ENST00000503640.1_Intron|UGT2A1_ENST00000514019.1_Intron|UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron NM_001105677.2 NP_001099147.2 TCTTAGGCATGGTAAAATCCC 0.323000 5 163 0 0 1 0 0 GPR112 139378 broad.mit.edu 37 X 135426760 135426760 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chrX:135426760G>A ENST00000394143.1 + 6 1186 c.895G>A c.(895-897)Gca>Aca p.A299T GPR112_ENST00000412101.1_Missense_Mutation_p.A94T|GPR112_ENST00000394141.1_Missense_Mutation_p.A94T|GPR112_ENST00000370652.1_Missense_Mutation_p.A299T|GPR112_ENST00000287534.4_Missense_Mutation_p.A236T NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 299 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) AACAATGACTGCACAAAAAAT 0.383000 5 698 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47583996 47583996 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:47583996C>T ENST00000273859.3 + 21 3937 c.3668C>T c.(3667-3669)aCt>aTt p.T1223I ATP10D_ENST00000512393.1_3'UTR NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1223 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 GGCTCAGATACTGACATCTTT 0.458000 60 742 0 0 1 0 0 FCN2 2220 broad.mit.edu 37 9 137779023 137779023 + Missense_Mutation SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:137779023T>C ENST00000350339.2 + 7 604 c.590T>C c.(589-591)cTg>cCg p.L197P FCN2_ENST00000291744.6_Missense_Mutation_p.L235P NM_015837.2 NP_056652.1 Q15485 FCN2_HUMAN ficolin (collagen/fibrinogen domain containing lectin) 2 235 Fibrinogen C-terminal. complement activation, lectin pathway|opsonization|signal transduction collagen|extracellular space antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2) 20 Myeloproliferative disorder(178;0.0333) OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07) GGAGATTCCCTGACGTTCCAC 0.473000 4 226 0 0 1 0 0 FAM192A 80011 broad.mit.edu 37 16 57207783 57207783 + Splice_Site SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:57207783T>A ENST00000309137.8 - 2 244 c.e2-2 FAM192A_ENST00000389447.5_5'UTR|FAM192A_ENST00000567439.1_Splice_Site|FAM192A_ENST00000569266.1_Splice_Site|FAM192A_ENST00000564108.1_Splice_Site|FAM192A_ENST00000566077.1_Intron NM_024946.2 NP_079222.1 Q9GZU8 F192A_HUMAN family with sequence similarity 192, member A nucleus endometrium(2)|large_intestine(3)|lung(4)|prostate(2) 11 ACAACCAATCTACaaaacaaa 0.368000 6 369 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52704333 52704333 + Missense_Mutation SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:52704333T>A ENST00000287727.3 + 4 1416 c.1244T>A c.(1243-1245)gTa>gAa p.V415E ZFYVE9_ENST00000361625.1_Missense_Mutation_p.V415E|ZFYVE9_ENST00000371591.1_Missense_Mutation_p.V415E|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.V415E NM_004799.2 NP_004790.2 O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 415 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 GATAGCCAAGTAAACGAAGAA 0.398000 5 215 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2646841 2646841 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:2646841C>T ENST00000402050.2 + 21 2133 c.1949C>T c.(1948-1950)cCc>cTc p.P650L IQCE_ENST00000438376.2_Missense_Mutation_p.P634L|IQCE_ENST00000404984.1_Missense_Mutation_p.P599L|IQCE_ENST00000325979.7_Missense_Mutation_p.P585L NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 650 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) TCCTCCCCACCCTTCCTCGCA 0.552000 3 68 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25419775 25419775 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:25419775A>T ENST00000315368.3 + 29 2341 c.e29-1 ANAPC4_ENST00000510092.1_Splice_Site NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) TTTCTTTTTTAGTTAAGCTCA 0.328000 10 318 0 0 1 0 0 GNPTAB 79158 broad.mit.edu 37 12 102158980 102158980 + Missense_Mutation SNP G G C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:102158980G>C ENST00000299314.7 - 13 1977 c.1715C>G c.(1714-1716)gCc>gGc p.A572G NM_024312.4 NP_077288.2 Q3T906 GNPTA_HUMAN N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits 572 cell differentiation Golgi membrane|integral to membrane|nucleus metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 37 TCCTCTTTTGGCTACTTCTGC 0.398000 7 375 0 0 1 0 0 SLC25A44 9673 broad.mit.edu 37 1 156170179 156170179 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:156170179G>A ENST00000359511.4 + 2 713 c.541G>A c.(541-543)Ggc>Agc p.G181S SLC25A44_ENST00000423538.2_Missense_Mutation_p.G158S|SLC25A44_ENST00000469537.1_3'UTR NM_014655.2 NP_055470.1 Q96H78 S2544_HUMAN solute carrier family 25, member 44 181 transmembrane transport integral to membrane|mitochondrial inner membrane binding breast(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Hepatocellular(266;0.158) TGGACTTCGCGGCTTCTATCG 0.557000 4 267 0 0 1 0 0 PRKAA2 5563 broad.mit.edu 37 1 57140052 57140052 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:57140052A>T ENST00000371244.4 + 2 160 c.e2-1 NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 TCTTTTCTTTAGTTGGAGAAC 0.313000 4 116 0 0 1 0 0 ZNF443 10224 broad.mit.edu 37 19 12542199 12542199 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:12542199G>A ENST00000301547.5 - 4 984 c.787C>T c.(787-789)Cct>Tct p.P263S CTD-3105H18.16_ENST00000595562.1_Intron NM_005815.4 NP_005806.2 Q9Y2A4 ZN443_HUMAN zinc finger protein 443 263 induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1) 28 CTGTAAAAAGGAAAGGCTTTA 0.373000 5 880 0 0 1 0 0 DHX57 90957 broad.mit.edu 37 2 39090649 39090649 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:39090649A>T ENST00000295373.6 - 3 363 c.237T>A c.(235-237)agT>agA p.S79R DHX57_ENST00000479345.2_5'UTR NM_198963.1 NP_945314.1 Q6P158 DHX57_HUMAN DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 79 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 all_hematologic(82;0.248) TGCTTATGTTACTGTTGCTAG 0.403000 5 305 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52850939 52850939 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:52850939G>A ENST00000266041.4 - 21 2528 c.2432C>T c.(2431-2433)gCg>gTg p.A811V ITIH4_ENST00000346281.5_Missense_Mutation_p.A795V|ITIH4_ENST00000485816.1_Missense_Mutation_p.A816V|ITIH4_ENST00000406595.1_Missense_Mutation_p.A781V NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 811 acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) CCACTTGTACGCAGAGCTTCT 0.577000 3 140 0 0 1 0 0 GPR21 2844 broad.mit.edu 37 9 125797055 125797055 + Silent SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:125797055T>C ENST00000373642.1 + 1 250 c.210T>C c.(208-210)acT>acC p.T70T RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron NM_005294.1 NP_005285.1 Q99679 GPR21_HUMAN G protein-coupled receptor 21 70 integral to plasma membrane G-protein coupled receptor activity p.T70T(1) endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2) 15 TTATCCAGACTATGGCATATG 0.423000 3 115 0 0 1 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789895 140789895 + Missense_Mutation SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:140789895T>A ENST00000520790.1 + 1 2126 c.2126T>A c.(2125-2127)cTg>cAg p.L709Q PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGTGATTCTGGCCATTGCC 0.587000 37 69 0 0 1 0 0 FMN1 342184 broad.mit.edu 37 15 33261380 33261380 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:33261380A>T ENST00000334528.9 - 4 1852 c.1853T>A c.(1852-1854)cTc>cAc p.L618H FMN1_ENST00000559047.1_Missense_Mutation_p.L841H|FMN1_ENST00000561249.1_Missense_Mutation_p.L743H NM_001103184.2 NP_001096654.1 Q68DA7 FMN1_HUMAN formin 1 841 Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity). actin cytoskeleton organization actin cytoskeleton|adherens junction|cytoplasm|nucleus actin binding endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 29 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) TGGGGGTGAGAGCTGGCTTAA 0.498000 11 408 0 0 1 0 0 C1QC 714 broad.mit.edu 37 1 22974251 22974251 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:22974251C>G ENST00000374639.3 + 3 831 c.713C>G c.(712-714)tCc>tGc p.S238C C1QC_ENST00000374640.4_Missense_Mutation_p.S238C|C1QC_ENST00000374637.1_Missense_Mutation_p.S238C NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 238 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGCGTCTTCTCCGGCTTCCTG 0.642000 25 102 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31332563 31332563 + Splice_Site SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:31332563G>A ENST00000544665.3 + 15 1783 c.1710_splice c.e15-1 p.R571_splice ITGAM_ENST00000287497.8_Splice_Site_p.R570_splice NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 570 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R570Q(1) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 TACCCTCAGCGGATAGCAGGC 0.522000 5 550 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38692610 38692610 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:38692610C>T ENST00000222345.6 + 20 5602 c.5093C>T c.(5092-5094)cCg>cTg p.P1698L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1698 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGGGGACCCCCGACCCCCAGG 0.647000 45 53 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35808752 35808752 + Splice_Site SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:35808752G>A ENST00000342694.2 + 20 3143 c.2887_splice c.e20-1 p.G963_splice SPAG8_ENST00000340291.2_Intron NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 963 Guanylate cyclase. intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) CTTCTCAAAGGGCCAGTCTGT 0.522000 4 231 0 0 1 0 0 BMS1P20 96610 broad.mit.edu 37 22 22664141 22664141 + RNA SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:22664141G>A ENST00000426066.1 + 0 664 NR_027293.1 AAATTTGAAGGTGCTGTGATT 0.448000 4 491 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135759453 135759453 + Missense_Mutation SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:135759453T>C ENST00000372136.3 + 2 566 c.119T>C c.(118-120)aTc>aCc p.I40T C9orf9_ENST00000356311.5_Missense_Mutation_p.I40T|C9orf9_ENST00000350499.6_Missense_Mutation_p.I40T Q96E40 CI009_HUMAN chromosome 9 open reading frame 9 40 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) CACGACAAGATCCGGCCCATC 0.627000 5 98 0 0 1 0 0 KRTAP4-12 83755 broad.mit.edu 37 17 39280266 39280266 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:39280266G>A ENST00000394014.1 - 1 153 c.109C>T c.(109-111)Cgc>Tgc p.R37C NM_031854.2 NP_114060.1 Q9BQ66 KR412_HUMAN keratin associated protein 4-12 37 31 X 5 AA repeats of C-C-[GRQVIL]-[SPTR]- [VSTQPC]. keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) CAGCTGGGGCGGCAGCAGGTG 0.672000 5 62 0 0 1 0 0 CTDSPL2 51496 broad.mit.edu 37 15 44751187 44751187 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:44751187A>T ENST00000260327.4 + 2 539 c.e2-1 CTDSPL2_ENST00000558966.1_Splice_Site|CTDSPL2_ENST00000396780.1_Splice_Site NM_016396.2 NP_057480.2 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase like 2 phosphoprotein phosphatase activity breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2) 13 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) tttCTCTTTTAGTTTTACATG 0.343000 5 92 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879325 39879325 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:39879325C>T ENST00000530275.1 + 1 3175 c.2980C>T c.(2980-2982)Ccc>Tcc p.P994S MACF1_ENST00000289893.4_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 994 Ala-rich. central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CCCAGAGGAGCCCGCCTCCCC 0.706000 3 4 0 0 1 0 0 PVRL2 5819 broad.mit.edu 37 19 45375310 45375310 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:45375310C>T ENST00000252483.5 + 3 679 c.679C>T c.(679-681)Ccc>Tcc p.P227S PVRL2_ENST00000252485.4_Missense_Mutation_p.P227S NM_001042724.1 NP_001036189.1 Q92692 PVRL2_HUMAN poliovirus receptor-related 2 (herpesvirus entry mediator B) 227 Ig-like C2-type 1. adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor cell surface|integral to membrane|zonula adherens cell adhesion molecule binding|coreceptor activity|protein homodimerization activity breast(1)|endometrium(1)|large_intestine(6)|lung(5) 13 Lung NSC(12;0.00195)|all_lung(12;0.00522) Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0143) CACCTTGGTGCCCTCGGGCCG 0.597000 5 430 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50025308 50025308 + Missense_Mutation SNP C C T rs149751647 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:50025308C>T ENST00000261897.1 + 2 676 c.125C>T c.(124-126)gCg>gTg p.A42V PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V|PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 48 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCAATGGGGGCGCCACCACCA 0.612000 19 172 0 0 1 0 0 OR6C3 254786 broad.mit.edu 37 12 55725568 55725568 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:55725568A>T ENST00000379667.1 + 1 84 c.84A>T c.(82-84)ttA>ttT p.L28F NM_054104.1 NP_473445.1 Q9NZP0 OR6C3_HUMAN olfactory receptor, family 6, subfamily C, member 3 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2) 11 TTCTCTTTTTATTTATCACGT 0.423000 7 395 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 102015074 102015074 + Splice_Site SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:102015074T>A ENST00000394854.3 - 6 1326 c.e6-2 PPP3CA_ENST00000394853.4_Splice_Site|PPP3CA_ENST00000523694.2_Splice_Site|PPP3CA_ENST00000512215.1_Intron|PPP3CA_ENST00000510292.1_Splice_Site|PPP3CA_ENST00000507176.1_Splice_Site|PPP3CA_ENST00000323055.6_Splice_Site NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) TCGGTCTAACTAAGAAAAATA 0.408000 5 253 0 0 1 0 0 USP34 9736 broad.mit.edu 37 2 61566560 61566560 + Missense_Mutation SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:61566560T>A ENST00000398571.2 - 18 2746 c.2670A>T c.(2668-2670)ttA>ttT p.L890F NM_014709.3 NP_055524.3 Q70CQ2 UBP34_HUMAN ubiquitin specific peptidase 34 890 positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2) 138 Epithelial(17;0.229) ACCAACATACTAACGAACAAA 0.279000 4 69 0 0 1 0 0 MPZL3 196264 broad.mit.edu 37 11 118111081 118111081 + Missense_Mutation SNP C C T rs140506520 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:118111081C>T ENST00000278949.4 - 2 140 c.85G>A c.(85-87)Gtc>Atc p.V29I MPZL3_ENST00000527472.1_Intron|MPZL3_ENST00000525386.1_Intron Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 29 cell adhesion integral to membrane p.V29I(1) autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) AAGGAAAAGACGATATAAACA 0.388000 4 378 0 0 1 0 0 CD109 135228 broad.mit.edu 37 6 74440152 74440152 + Missense_Mutation SNP G G A rs111900767 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:74440152G>A ENST00000437994.2 + 4 793 c.362G>A c.(361-363)cGc>cAc p.R121H CD109_ENST00000422508.2_Intron|CD109_ENST00000287097.5_Missense_Mutation_p.R121H NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 121 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AATAGTACCCGCTTATCATTT 0.418000 60 22 0 0 1 0 0 USP39 10713 broad.mit.edu 37 2 85863199 85863199 + Missense_Mutation SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:85863199T>C ENST00000323701.6 + 7 983 c.973T>C c.(973-975)Tgg>Cgg p.W325R USP39_ENST00000409025.1_Missense_Mutation_p.W325R|USP39_ENST00000450066.2_Missense_Mutation_p.W222R|USP39_ENST00000409766.3_Missense_Mutation_p.W325R|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409470.1_Missense_Mutation_p.W325R NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 325 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CTTTCTGTCTTGGTTTCTGAA 0.398000 4 533 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9015723 9015723 + Silent SNP C C T rs144233170 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:9015723C>T ENST00000397910.4 - 29 38303 c.38100G>A c.(38098-38100)ccG>ccA p.P12700P NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 12702 SEA 5. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAGGGTGAACGGCACCAGGA 0.468000 10 1906 0 0 1 0 0 ZAN 7455 broad.mit.edu 37 7 100350458 100350458 + RNA SNP A A G rs111855792 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:100350458A>G ENST00000542585.1 + 0 2878 ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CCATCTCCCCAGAAAAACCCA 0.507000 3 29 0 0 1 0 0 MAP3K12 7786 broad.mit.edu 37 12 53876678 53876678 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:53876678G>A ENST00000267079.2 - 12 2035 c.1810C>T c.(1810-1812)Cgc>Tgc p.R604C MAP3K12_ENST00000547488.1_Missense_Mutation_p.R637C|MAP3K12_ENST00000547035.1_Missense_Mutation_p.R637C NM_001193511.1|NM_006301.3 NP_001180440.1|NP_006292.3 Q12852 M3K12_HUMAN mitogen-activated protein kinase kinase kinase 12 604 histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation cytosol|membrane fraction|plasma membrane ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 37 GACATTTTGCGGAGCAGGAGG 0.687000 3 182 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152281389 152281389 + Silent SNP C C T rs138652718 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:152281389C>T ENST00000368799.1 - 3 6008 c.5973G>A c.(5971-5973)gcG>gcA p.A1991A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1991 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CATGGGATGACGCAGCCTGTC 0.572000 Ichthyosis 9 874 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399610 8399610 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:8399610A>G ENST00000471889.1 + 8 2217 c.1832A>G c.(1831-1833)tAt>tGt p.Y611C SLC45A1_ENST00000289877.8_Missense_Mutation_p.Y611C|SLC45A1_ENST00000377479.2_Missense_Mutation_p.Y645C Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 611 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TTCATCGCCTATCTCGCCTTC 0.607000 64 27 0 0 1 0 0 PSMD4 5710 broad.mit.edu 37 1 151237916 151237916 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:151237916G>A ENST00000368884.3 + 6 565 c.485G>A c.(484-486)gGc>gAc p.G162D PSMD4_ENST00000368881.4_Missense_Mutation_p.G162D NM_002810.2 NP_002801.1 P55036 PSMD4_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 162 VWFA. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction proteasome complex protein binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|lung(7) 11 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) ACGTTGAATGGCAAAGATGGA 0.517000 4 217 0 0 1 0 0 SENP6 26054 broad.mit.edu 37 6 76380267 76380267 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:76380267A>T ENST00000370014.3 + 11 1843 c.e11-1 SENP6_ENST00000327284.8_Splice_Site|SENP6_ENST00000370010.2_Splice_Site|SENP6_ENST00000447266.2_Splice_Site|SENP6_ENST00000541192.1_Splice_Site NM_001100409.1 NP_001093879.1 Q9GZR1 SENP6_HUMAN SUMO1/sentrin specific peptidase 6 proteolysis cytoplasm|nucleus cysteine-type peptidase activity breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(105;0.189) TTTCCTTTTTAGTTTGGCAAT 0.323000 5 86 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36162173 36162173 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:36162173C>T ENST00000303965.4 - 13 2839 c.2350G>A c.(2350-2352)Gaa>Aaa p.E784K NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 784 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TTTCTCTTTTCTACTGGTGAG 0.308000 3 39 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25310247 25310247 + RNA SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:25310247A>G ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA TCATACCGTCATTCTCATCGG 0.453000 5 508 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224344 248224344 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:248224344C>T ENST00000359959.3 + 1 361 c.361C>T c.(361-363)Cgt>Tgt p.R121C OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 121 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) GGCCTATGATCGTTACATTGC 0.443000 5 422 0 0 1 0 0 GUF1 60558 broad.mit.edu 37 4 44696427 44696427 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:44696427A>T ENST00000281543.5 + 14 1807 c.e14-1 GUF1_ENST00000506793.1_Splice_Site NM_021927.2 NP_068746.2 Q8N442 GUF1_HUMAN GUF1 GTPase homolog (S. cerevisiae) translation mitochondrial inner membrane GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 19 TTTTCCTTTTAGTTTTGATTA 0.343000 4 72 0 0 1 0 0 MAP3K19 80122 broad.mit.edu 37 2 135740822 135740822 + Nonsense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:135740822C>T ENST00000392915.1 - 9 3472 c.3353G>A c.(3352-3354)tGg>tAg p.W1118* MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000375845.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000315513.3_5'UTR mitogen-activated protein kinase kinase kinase 19 TTGTTTTTGCCATCTAGTAAT 0.413000 3 157 0 0 1 0 0 MRGPRX3 117195 broad.mit.edu 37 11 18159156 18159156 + Missense_Mutation SNP G G A rs146036416 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:18159156G>A ENST00000396275.2 + 3 768 c.407G>A c.(406-408)aGa>aAa p.R136K NM_054031.3 NP_473372.3 Q96LB0 MRGX3_HUMAN MAS-related GPR, member X3 136 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 27 CGCCGCCCCAGATACCTGTCA 0.567000 5 137 0 0 1 0 0 SERTAD3 29946 broad.mit.edu 37 19 40947607 40947607 + Silent SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:40947607G>A ENST00000322354.3 - 2 877 c.381C>T c.(379-381)ccC>ccT p.P127P SERTAD3_ENST00000392028.4_Silent_p.P127P NM_203344.2 NP_976219.1 Q9UJW9 SRTD3_HUMAN SERTA domain containing 3 127 negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding kidney(1)|large_intestine(4)|lung(2) 7 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GATCAGGCTGGGGTGGCACTT 0.557000 4 392 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182400218 182400218 + Missense_Mutation SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:182400218T>A ENST00000397033.2 + 28 3493 c.3063T>A c.(3061-3063)agT>agA p.S1021R NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 1021 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) GAAGAGACAGTTGGAGTTATA 0.313000 4 282 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7797351 7797351 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:7797351G>A ENST00000303635.7 + 15 3586 c.3379G>A c.(3379-3381)Gtc>Atc p.V1127I CAMTA1_ENST00000439411.2_Missense_Mutation_p.V1127I NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1127 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGAAGCTGCCGTCGTGCTGTA 0.557000 T WWTR1 epitheliod hemangioendothelioma 4 119 0 0 1 0 0 CCDC146 57639 broad.mit.edu 37 7 76885765 76885765 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:76885765A>G ENST00000285871.4 + 6 750 c.623A>G c.(622-624)aAg>aGg p.K208R CCDC146_ENST00000431197.1_5'UTR|AC073635.5_ENST00000476561.2_RNA NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 208 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) TCTAAACAAAAGCAATTATTA 0.323000 6 402 0 0 1 0 0 IFT74 80173 broad.mit.edu 37 9 26988665 26988665 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:26988665A>T ENST00000443698.1 + 7 636 c.e7-1 IFT74_ENST00000429045.2_Splice_Site|IFT74_ENST00000380062.5_Splice_Site|IFT74_ENST00000433700.1_Splice_Site NM_001099222.1 NP_001092692.1 Q96LB3 IFT74_HUMAN intraflagellar transport 74 homolog (Chlamydomonas) cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1) 6 all_neural(11;2.36e-10) Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114) TTTTGTTTTTAGTTGGTAGAT 0.254000 4 27 0 0 1 0 0 ATP1A3 478 broad.mit.edu 37 19 42492233 42492233 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:42492233G>A ENST00000545399.1 - 4 404 c.251C>T c.(250-252)aCg>aTg p.T84M ATP1A3_ENST00000543770.1_Missense_Mutation_p.T82M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.T41M|ATP1A3_ENST00000468774.2_5'UTR|ATP1A3_ENST00000302102.5_Missense_Mutation_p.T71M NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 71 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGGCGGTGGCGTGAGTGCGTT 0.632000 141 215 0 0 1 0 0 DHX35 60625 broad.mit.edu 37 20 37620095 37620095 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:37620095A>T ENST00000252011.3 + 6 483 c.e6-1 DHX35_ENST00000373323.4_Splice_Site|DHX35_ENST00000373325.2_Splice_Site NM_021931.3 NP_068750.2 Q9H5Z1 DHX35_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 35 catalytic step 2 spliceosome ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2) 40 Myeloproliferative disorder(115;0.00878) TTTATTTTTTAGTTTCTTACT 0.313000 7 211 0 0 1 0 0 IL12RB1 3594 broad.mit.edu 37 19 18173055 18173055 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:18173055C>T ENST00000600835.1 - 15 1954 c.1651G>A c.(1651-1653)Gcc>Acc p.A551T IL12RB1_ENST00000593993.1_Missense_Mutation_p.A551T|IL12RB1_ENST00000430026.2_Missense_Mutation_p.A551T P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 551 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CCCAGGGAGGCGAAGAAGATG 0.572000 21 325 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24854824 24854824 + Splice_Site SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:24854824T>A ENST00000313367.2 - 19 2479 c.e19-2 OSBPL3_ENST00000352860.1_Splice_Site|OSBPL3_ENST00000353930.1_Splice_Site|OSBPL3_ENST00000396429.1_Splice_Site|OSBPL3_ENST00000431825.2_Splice_Site|OSBPL3_ENST00000396431.1_Splice_Site|OSBPL3_ENST00000409069.1_Splice_Site NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TCCCCAAAACTAAAAAGAAGG 0.378000 10 258 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891808 6891808 + Missense_Mutation SNP A A C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:6891808A>C ENST00000307322.4 + 1 885 c.823A>C c.(823-825)Att>Ctt p.I275L NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 275 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) GTTGAACCCCATTATCTACAG 0.468000 4 290 0 0 1 0 0 MRPL2 51069 broad.mit.edu 37 6 43023724 43023724 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:43023724G>A ENST00000388752.3 - 5 966 c.542C>T c.(541-543)gCg>gTg p.A181V MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.A181V NM_015950.3 NP_057034.2 Q5T653 RM02_HUMAN mitochondrial ribosomal protein L2 181 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2) 9 Ovarian(999;0.0014) Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442) BRCA - Breast invasive adenocarcinoma(397;0.0026) AAGAGGATGCGCATCCCCTTC 0.552000 3 73 0 0 1 0 0 ZMAT2 153527 broad.mit.edu 37 5 140083501 140083501 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:140083501A>T ENST00000274712.3 + 4 363 c.e4-1 NM_144723.1 NP_653324.1 Q96NC0 ZMAT2_HUMAN zinc finger, matrin-type 2 nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2) 8 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTTCCTGTTAGATATTACTG 0.368000 6 499 0 0 1 0 0 TAF7 6879 broad.mit.edu 37 5 140699180 140699180 + Silent SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:140699180C>T ENST00000313368.5 - 1 1150 c.432G>A c.(430-432)agG>agA p.R144R NM_005642.2 NP_005633.2 Q15545 TAF7_HUMAN TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa 144 negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACCTTCTCTTCCTGACATTCT 0.388000 5 157 0 0 1 0 0 WDR27 253769 broad.mit.edu 37 6 170033136 170033136 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:170033136C>A ENST00000333572.6 - 21 2649 c.2130G>T c.(2128-2130)agG>agT p.R710S WDR27_ENST00000448612.1_Missense_Mutation_p.R710S|WDR27_ENST00000423258.1_Missense_Mutation_p.R583S|WDR27_ENST00000546525.1_5'UTR A2RRH5 WDR27_HUMAN WD repeat domain 27 680 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CTTCCACGGTCCTGTTCCGGC 0.532000 22 12 1.66031e-10 1.77415e-10 1 1 0 MUC16 94025 broad.mit.edu 37 19 9065630 9065630 + Silent SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:9065630A>T ENST00000397910.4 - 3 22019 c.21816T>A c.(21814-21816)atT>atA p.I7272I NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7274 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TAGTAGCACCAATGGACACTT 0.488000 7 765 0 0 1 0 0 MMP2 4313 broad.mit.edu 37 16 55523710 55523710 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:55523710G>A ENST00000219070.4 + 7 1663 c.1154G>A c.(1153-1155)cGc>cAc p.R385H MMP2_ENST00000543485.1_Missense_Mutation_p.R309H|MMP2_ENST00000437642.2_Missense_Mutation_p.R335H|MMP2_ENST00000570308.1_Missense_Mutation_p.R309H NM_004530.4 NP_004521.1 P08253 MMP2_HUMAN matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) 385 Collagen-binding.|Fibronectin type-II 3. angiogenesis|collagen catabolic process|proteolysis extracellular space|membrane|nucleus|proteinaceous extracellular matrix metalloendopeptidase activity|protein binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 58 Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189) UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786) Marimastat(DB00786)|Sulindac(DB00605) GATGATGACCGCAAGTGGGGC 0.567000 4 182 0 0 1 0 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89084114 89084114 + RNA SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:89084114G>A ENST00000393525.3 + 0 576 TTGCTTTTCAGTGTCTTCTCA 0.313000 5 138 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51308360 51308360 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:51308360C>A ENST00000266037.9 + 24 2493 c.2470C>A c.(2470-2472)Cac>Aac p.H824N NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 824 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) CAGCACTGTGCACATTGGGCA 0.512000 6 208 0.00116845 0.00119399 1 1 0 NHEJ1 79840 broad.mit.edu 37 2 220022916 220022916 + Nonsense_Mutation SNP G G A rs118204451 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:220022916G>A ENST00000356853.5 - 2 302 c.169C>T c.(169-171)Cga>Tga p.R57* NHEJ1_ENST00000409720.1_Nonsense_Mutation_p.R57* NM_024782.2 NP_079058.1 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 57 R -> G (in NHEJ1-SCID; fails to translocate to the nucleus). B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) ACCTTGGCTCGCTGGCTGACC 0.507000 Non-homologous end-joining 4 438 0 0 1 0 0 LRCH3 84859 broad.mit.edu 37 3 197544159 197544159 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:197544159C>A ENST00000438796.2 + 3 564 c.520C>A c.(520-522)Cat>Aat p.H174N LRCH3_ENST00000414675.2_Missense_Mutation_p.H174N|LRCH3_ENST00000334859.4_Missense_Mutation_p.H174N|LRCH3_ENST00000425562.2_Missense_Mutation_p.H174N|LRCH3_ENST00000441090.2_Intron Q96II8 LRCH3_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 3 174 extracellular region breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.119) ACACCTTAGACATTTGATGGA 0.338000 4 174 1 1 1 1 0 TAF1L 138474 broad.mit.edu 37 9 32631342 32631342 + Silent SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:32631342G>A ENST00000242310.4 - 1 4325 c.4236C>T c.(4234-4236)atC>atT p.I1412I NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1412 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCATGTCATTGATGATAGACT 0.458000 8 1163 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109740267 109740267 + Nonsense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:109740267C>T ENST00000369939.3 + 16 2476 c.2293C>T c.(2293-2295)Cga>Tga p.R765* KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R678*|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 765 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCTTGCTGATCGACTTATTGG 0.527000 6 28 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10523064 10523064 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:10523064C>T ENST00000444303.2 + 11 1764 c.1292C>T c.(1291-1293)gCc>gTc p.A431V AMPD3_ENST00000396554.3_Missense_Mutation_p.A599V|AMPD3_ENST00000530864.1_3'UTR NM_001172431.1 NP_001165902.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 590 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TGTGGGGAAGCCGGCTCCATC 0.627000 3 66 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61897195 61897195 + Silent SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:61897195A>T ENST00000427159.2 - 21 3156 c.2511T>A c.(2509-2511)cgT>cgA p.R837R NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 837 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 TTTGTTCCTTACGTTGCTGTG 0.537000 8 614 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148872892 148872892 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:148872892A>T ENST00000296051.2 + 8 1540 c.e8-1 HPS3_ENST00000460120.1_Splice_Site NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTTTGCTTTTAGTTCGAGAAA 0.303000 Hermansky-Pudlak syndrome 4 218 0 0 1 0 0 PPP1R15A 23645 broad.mit.edu 37 19 49377656 49377656 + Nonsense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:49377656G>A ENST00000200453.5 + 2 1435 c.1166G>A c.(1165-1167)tGg>tAg p.W389* NM_014330.3 NP_055145.3 O75807 PR15A_HUMAN protein phosphatase 1, regulatory subunit 15A 389 4 X 34 AA approximate repeats.|Glu-rich.|Interaction with SMAD7. apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus endoplasmic reticulum protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1) 23 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033) TTGAAGTCCTGGGTCTATCAG 0.517000 7 804 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169510502 169510502 + Missense_Mutation SNP G G T rs140018525 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:169510502G>T ENST00000367796.3 - 13 4042 c.3841C>A c.(3841-3843)Ctt>Att p.L1281I F5_ENST00000367797.3_Missense_Mutation_p.L1276I P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1276 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TCTGGAGAAAGGGGCATCTGA 0.502000 5 563 2.7689e-08 2.94195e-08 1 1 0 IGSF10 285313 broad.mit.edu 37 3 151164958 151164958 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:151164958A>T ENST00000282466.3 - 4 2810 c.2811T>A c.(2809-2811)agT>agA p.S937R NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 937 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGTGGTGCTACTAAGCATTT 0.398000 8 1190 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74270115 74270115 + Missense_Mutation SNP G G A rs74821926 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:74270115G>A ENST00000295897.4 + 1 160 c.71G>A c.(70-72)cGa>cAa p.R24Q ALB_ENST00000503124.1_5'UTR|ALB_ENST00000509063.1_Missense_Mutation_p.R24Q|ALB_ENST00000401494.3_Missense_Mutation_p.R24Q|ALB_ENST00000415165.2_Missense_Mutation_p.R24Q NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 24 Albumin 1. R -> L (in Jaffna).|R -> P (in Takefu/Honolulu-1).|R -> Q (in Christchurch/Honolulu-2). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GTGTTTCGTCGAGATGCACGT 0.363000 74 110 0 0 1 0 0 ETFDH 2110 broad.mit.edu 37 4 159618720 159618720 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:159618720A>T ENST00000511912.1 + 8 1173 c.841A>T c.(841-843)Att>Ttt p.I281F ETFDH_ENST00000307738.5_Missense_Mutation_p.I234F NM_004453.2 NP_004444.2 Q16134 ETFD_HUMAN electron-transferring-flavoprotein dehydrogenase 281 fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport integral to mitochondrial inner membrane|mitochondrial matrix 4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3) 28 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0172) GTTATGGGTTATTGATGAAAA 0.353000 6 186 0 0 1 0 0 UBC 7316 broad.mit.edu 37 12 125397811 125397811 + Silent SNP C C A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:125397811C>A ENST00000536769.1 - 1 2083 c.507G>T c.(505-507)gtG>gtT p.V169V UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.V169V|UBC_ENST00000546120.1_Intron P0CG48 UBC_HUMAN ubiquitin C 169 Ubiquitin-like 3. activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane protein binding breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308) CACTGGGCTCCACCTCGAGGG 0.522000 4 410 0.0477658 0.0482821 1 1 0 MON2 23041 broad.mit.edu 37 12 62928623 62928623 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:62928623A>T ENST00000393630.3 + 13 2024 c.e13-1 MON2_ENST00000280379.6_Splice_Site|MON2_ENST00000552738.1_Splice_Site|MON2_ENST00000552115.1_Splice_Site|MON2_ENST00000393632.2_Splice_Site|MON2_ENST00000393629.2_Splice_Site|MON2_ENST00000546600.1_Splice_Site NM_001278470.1|NM_001278472.1 NP_001265399.1|NP_001265401.1 Q7Z3U7 MON2_HUMAN MON2 homolog (S. cerevisiae) Golgi to endosome transport|protein transport cytoplasm ARF guanyl-nucleotide exchange factor activity|binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 57 BRCA - Breast invasive adenocarcinoma(9;0.218) GBM - Glioblastoma multiforme(28;0.128) TTTTCCTTTAAGTTAGTAGGG 0.323000 4 196 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47886683 47886683 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:47886683C>A ENST00000396105.1 - 3 1912 c.1666G>T c.(1666-1668)Gac>Tac p.D556Y ZNFX1_ENST00000371752.1_Missense_Mutation_p.D556Y|ZNFX1_ENST00000371754.4_Missense_Mutation_p.D556Y NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 556 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) GGGGTAAAGTCGTATCTGCCC 0.478000 15 266 2.23348e-06 2.3333e-06 1 1 0 OR6Q1 219952 broad.mit.edu 37 11 57798663 57798663 + Missense_Mutation SNP T T G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:57798663T>G ENST00000302622.3 + 1 262 c.239T>G c.(238-240)gTg>gGg p.V80G OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TCTGTTACAGTGCCCAAGATG 0.473000 221 187 0 0 1 0 0 PROX1 5629 broad.mit.edu 37 1 214170345 214170345 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:214170345G>A ENST00000366958.4 + 2 1075 c.467G>A c.(466-468)cGc>cAc p.R156H PROX1_ENST00000498508.2_Missense_Mutation_p.R156H|PROX1_ENST00000435016.1_Missense_Mutation_p.R156H|PROX1_ENST00000261454.4_Missense_Mutation_p.R156H NM_001270616.1 NP_001257545.1 Q92786 PROX1_HUMAN prospero homeobox 1 156 aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis cytoplasm|nucleus DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4) 47 OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219) GATATGGATCGCTTATGTGAT 0.498000 27 177 0 0 1 0 0 FABP1 2168 broad.mit.edu 37 2 88425818 88425818 + Silent SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:88425818C>T ENST00000393750.3 - 2 148 c.117G>A c.(115-117)tcG>tcA p.S39S FABP1_ENST00000295834.3_Silent_p.S39S|FABP1_ENST00000495375.1_5'UTR P07148 FABPL_HUMAN fatty acid binding protein 1, liver 39 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 GCACGATTTCCGACACCCCCT 0.527000 6 751 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20807460 20807460 + Missense_Mutation SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:20807460T>C ENST00000601440.1 - 4 1369 c.1223A>G c.(1222-1224)tAc>tGc p.Y408C CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 408 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.Y408C(1) breast(1)|endometrium(1)|lung(3)|skin(1) 6 GTTAGAGGAGTACTTAAAAGC 0.408000 4 189 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56345006 56345006 + Silent SNP A A G rs145553253 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:56345006A>G ENST00000526812.2 - 1 257 c.192T>C c.(190-192)ggT>ggC p.G64G NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 64 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 AGGAGAGGTGACCAAGGAAGA 0.463000 4 144 0 0 1 0 0 SUOX 6821 broad.mit.edu 37 12 56398608 56398608 + Missense_Mutation SNP G G C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:56398608G>C ENST00000394109.3 + 3 2159 c.1435G>C c.(1435-1437)Gaa>Caa p.E479Q SUOX_ENST00000356124.4_Missense_Mutation_p.E479Q|SUOX_ENST00000548274.1_Missense_Mutation_p.E479Q|SUOX_ENST00000394115.2_Missense_Mutation_p.E479Q|SUOX_ENST00000266971.3_Missense_Mutation_p.E479Q P51687 SUOX_HUMAN sulfite oxidase 479 Molybdenum-pterin domain (By similarity). mitochondrial intermembrane space electron carrier activity|molybdenum ion binding|sulfite oxidase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6) 15 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119) GGATGGAGAGGAACAGCGCCC 0.587000 3 144 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42022431 42022431 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:42022431A>T ENST00000264451.6 + 4 514 c.e4-1 NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 TTTTTTGTTTAGTTAAAGCAG 0.348000 9 179 0 0 1 0 0 WIF1 11197 broad.mit.edu 37 12 65462686 65462686 + Splice_Site SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:65462686T>A ENST00000286574.4 - 4 772 c.e4-2 NM_007191.4 NP_009122.2 Q9Y5W5 WIF1_HUMAN WNT inhibitory factor 1 multicellular organismal development|Wnt receptor signaling pathway extracellular region protein tyrosine kinase activity cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 21 LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975) GBM - Glioblastoma multiforme(28;0.0231) CTTGAACAACTAAAAGAAAAA 0.373000 T HMGA2 pleomorphic salivary gland adenoma 5 110 0 0 1 0 0 GTF3C2 2976 broad.mit.edu 37 2 27559290 27559290 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:27559290A>G ENST00000359541.2 - 8 1559 c.1130T>C c.(1129-1131)tTt>tCt p.F377S AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000416453.2_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.F377S|AC109828.1_ENST00000585326.1_RNA Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 377 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATCGAGCTAAATCTAGAGAA 0.532000 26 67 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91369271 91369271 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:91369271G>A ENST00000261991.3 - 9 1173 c.1000C>T c.(1000-1002)Cca>Tca p.P334S RPS6KA5_ENST00000418736.2_Missense_Mutation_p.P334S|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P255S NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 334 AGC-kinase C-terminal. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GGCTTAAATGGTGCAGGCACT 0.393000 4 176 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102530659 102530659 + Silent SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:102530659T>C ENST00000321521.9 + 29 4062 c.3489T>C c.(3487-3489)taT>taC p.Y1163Y PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Silent_p.Y1184Y|PPIP5K2_ENST00000414217.1_Silent_p.Y1163Y O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 1184 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 TAAATACGTATACACCTGCAA 0.373000 3 81 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345068 20345068 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:20345068A>T ENST00000298642.2 + 1 678 c.642A>T c.(640-642)ttA>ttT p.L214F NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 214 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTATTGTTTTATTTAATTCAT 0.388000 5 453 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770867 37770867 + Silent SNP G G A rs149957183 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:37770867G>A ENST00000402918.1 - 3 1493 c.708C>T c.(706-708)aaC>aaT p.N236N RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.N236N NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 236 LRRCT. cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGGTGATGGCGTTGAGGCTGT 0.677000 7 4 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235866217 235866217 + Missense_Mutation SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:235866217T>C ENST00000389794.3 - 45 10378 c.10204A>G c.(10204-10206)Acc>Gcc p.T3402A LYST_ENST00000389793.2_Missense_Mutation_p.T3402A|LYST_ENST00000473037.1_5'UTR Q99698 LYST_HUMAN lysosomal trafficking regulator 3402 BEACH. defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TTTATCATGGTTTCTAGCGCT 0.473000 3 249 0 0 1 0 0 PREP 5550 broad.mit.edu 37 6 105800954 105800954 + Splice_Site SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:105800954T>A ENST00000369110.3 - 7 910 c.e7-2 NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) ATCAGATAACTAAAAAAGAAA 0.343000 6 106 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131007746 131007746 + Silent SNP A A T rs75277328 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:131007746A>T ENST00000307968.7 - 13 2306 c.2307T>A c.(2305-2307)acT>acA p.T769T FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Silent_p.T752T|FNIP1_ENST00000510461.1_Silent_p.T797T NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TTGTTTGTTTAGTTTCTTGAT 0.443000 7 580 0 0 1 0 0 CDH2 1000 broad.mit.edu 37 18 25565566 25565566 + Missense_Mutation SNP G G C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr18:25565566G>C ENST00000269141.3 - 12 2324 c.1901C>G c.(1900-1902)gCt>gGt p.A634G CDH2_ENST00000399380.3_Missense_Mutation_p.A603G NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 634 Cadherin 5. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 AAATGGTCCAGCATTTGGATC 0.383000 4 230 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117261597 117261597 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:117261597G>A ENST00000278935.3 + 16 2186 c.2039G>A c.(2038-2040)aGc>aAc p.S680N CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 680 Glu-rich. cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) GTCCAGTCCAGCACACAAGCA 0.602000 4 85 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67576514 67576514 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:67576514A>G ENST00000540839.3 + 14 2105 c.1885A>G c.(1885-1887)Acc>Gcc p.T629A CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000428437.2_Missense_Mutation_p.T623A|FAM65A_ENST00000379312.3_Missense_Mutation_p.T613A|FAM65A_ENST00000042381.4_Missense_Mutation_p.T609A|FAM65A_ENST00000422602.2_Missense_Mutation_p.T629A Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 613 Pro-rich. cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) GCCAAGCCCTACCCATACCAC 0.542000 5 423 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46760614 46760614 + Silent SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:46760614A>G ENST00000311907.5 + 13 1727 c.1671A>G c.(1669-1671)gaA>gaG p.E557E F2_ENST00000530231.1_Silent_p.E518E NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 557 High affinity receptor-binding region which is also known as the TP508 peptide.|Peptidase S1. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity p.E557E(1) endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) AGCCTGATGAAGGGAAACGAG 0.552000 3 207 0 0 1 0 0 FBXO4 26272 broad.mit.edu 37 5 41934293 41934293 + Nonsense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:41934293C>T ENST00000296812.2 + 5 837 c.781C>T c.(781-783)Cga>Tga p.R261* FBXO4_ENST00000509134.1_Nonsense_Mutation_p.R261*|FBXO4_ENST00000281623.3_Nonsense_Mutation_p.R261* NM_033484.2 NP_277019.1 Q9UKT5 FBX4_HUMAN F-box protein 4 261 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(11)|prostate(1)|stomach(1)|urinary_tract(2) 27 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) GATGTTCAGTCGACACAATGA 0.368000 4 216 0 0 1 0 0 CTSO 1519 broad.mit.edu 37 4 156850793 156850793 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:156850793C>T ENST00000433477.3 - 6 808 c.739G>A c.(739-741)Gca>Aca p.A247T NM_001334.2 NP_001325.1 P43234 CATO_HUMAN cathepsin O 247 proteolysis lysosome cysteine-type endopeptidase activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1) 16 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148) CAGCTCACTGCATCTACTATG 0.403000 4 233 0 0 1 0 0 DCAF17 80067 broad.mit.edu 37 2 172314880 172314880 + Splice_Site SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:172314880A>T ENST00000375255.3 + 8 1059 c.e8-1 DCAF17_ENST00000539783.1_Splice_Site|DCAF17_ENST00000468592.1_Intron NM_025000.3 NP_079276.2 Q5H9S7 DCA17_HUMAN DDB1 and CUL4 associated factor 17 CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1) 17 TTTTGTTTTTAGTTCATGCAA 0.358000 4 149 0 0 1 0 0 ZNF259 8882 broad.mit.edu 37 11 116652913 116652913 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:116652913C>G ENST00000227322.3 - 12 1199 c.1140G>C c.(1138-1140)caG>caC p.Q380H NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 380 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) GTCTCTCCGTCTGTCCAGGAT 0.468000 4 75 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9009704 9009704 + Missense_Mutation SNP G G T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:9009704G>T ENST00000397910.4 - 39 39225 c.39022C>A c.(39022-39024)Cct>Act p.P13008T NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13010 cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACCAGGAGAGGAACAGCTGCT 0.448000 10 1556 2.17888e-05 2.25111e-05 1 1 0 C2orf44 80304 broad.mit.edu 37 2 24260997 24260997 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:24260997A>T ENST00000295148.4 - 2 1425 c.1368T>A c.(1366-1368)aaT>aaA p.N456K C2orf44_ENST00000406895.3_Missense_Mutation_p.N456K NM_025203.2 NP_079479.1 Q9H6R7 CB044_HUMAN chromosome 2 open reading frame 44 456 protein binding C2orf44/ALK(2) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TATTTGCTTTATTTAACGGAG 0.363000 T ALK NSCLC 5 172 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25310233 25310233 + RNA SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:25310233A>G ENST00000549804.2 + 0 538 SNORD116-6_ENST00000384711.1_RNA|SNHG14_ENST00000551077.1_RNA AAATGAGTGAAAACTCATACC 0.453000 5 516 0 0 1 0 0 RAVER2 55225 broad.mit.edu 37 1 65243530 65243530 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:65243530C>T ENST00000294428.3 + 3 619 c.541C>T c.(541-543)Cat>Tat p.H181Y RAVER2_ENST00000371072.4_Missense_Mutation_p.H181Y Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 181 RRM 2. cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 AGTTACTGGCCATTCCAAAGG 0.413000 8 1084 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137849767 137849767 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:137849767A>G ENST00000236709.3 - 2 533 c.332T>C c.(331-333)aTa>aCa p.I111T NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 111 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 AACGTTGTCTATTGCTGACAG 0.423000 3 300 0 0 1 0 0 ARAP2 116984 broad.mit.edu 37 4 36162175 36162175 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:36162175A>T ENST00000303965.4 - 13 2837 c.2348T>A c.(2347-2349)gTa>gAa p.V783E NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 783 Arf-GAP. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 TCTCTTTTCTACTGGTGAGTC 0.308000 4 40 0 0 1 0 0 VPS13A 23230 broad.mit.edu 37 9 79954603 79954603 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:79954603A>T ENST00000360280.3 + 48 6810 c.6550A>T c.(6550-6552)Act>Tct p.T2184S VPS13A_ENST00000376634.4_Missense_Mutation_p.T2184S|VPS13A_ENST00000376636.3_Missense_Mutation_p.T2145S|VPS13A_ENST00000357409.5_Missense_Mutation_p.T2184S NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 2184 Golgi to endosome transport|protein transport intracellular protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 TGTCAGTTTTACTTGTGTTAC 0.343000 5 256 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 129558602 129558602 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:129558602A>T ENST00000422113.2 - 9 3444 c.3118T>A c.(3118-3120)Tca>Aca p.S1040T TMEM132D_ENST00000389441.4_Missense_Mutation_p.S578T NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 1040 integral to membrane NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TTCCTTTTTGAGGTAGGGGAT 0.483000 5 298 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18729478 18729478 + Silent SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:18729478A>T ENST00000513874.1 - 20 3292 c.3153T>A c.(3151-3153)atT>atA p.I1051I RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859.3 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 849 NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TGCTCTTGGTAATTGTCTCTC 0.517000 5 249 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62297944 62297944 + Silent SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:62297944C>T ENST00000378024.4 - 5 4219 c.3945G>A c.(3943-3945)gaG>gaA p.E1315E AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 1315 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TGAAGTGCATCTCAGGCATCT 0.522000 9 237 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8668756 8668756 + Missense_Mutation SNP C C A rs146637359 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:8668756C>A ENST00000270328.4 - 4 714 c.448G>T c.(448-450)Gtg>Ttg p.V150L ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V150L|ADAMTS10_ENST00000596709.1_5'UTR Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 150 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 TCGTCTGCCACGATCAGGCCG 0.552000 4 143 0.014758 0.0149986 1 1 0 BPIFC 254240 broad.mit.edu 37 22 32833840 32833840 + Splice_Site SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:32833840T>A ENST00000397452.1 - 8 766 c.e8-2 BPIFC_ENST00000432451.2_Splice_Site|BPIFC_ENST00000534972.1_Splice_Site|BPIFC_ENST00000300399.3_Splice_Site Q8NFQ6 BPIL2_HUMAN BPI fold containing family C extracellular region lipopolysaccharide binding|phospholipid binding TGGTTAAAACTAAATAACCAA 0.303000 6 149 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32541886 32541886 + Silent SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:32541886A>T ENST00000360538.2 - 3 2753 c.2637T>A c.(2635-2637)acT>acA p.T879T TOPORS_ENST00000379858.1_Silent_p.T814T NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 879 Interaction with TOP1.|Interaction with UBE2I.|Lys-rich. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) tATGGTGTTTAGTTGTATCAG 0.383000 8 485 0 0 1 0 0 ZDHHC21 340481 broad.mit.edu 37 9 14674264 14674264 + Missense_Mutation SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:14674264T>A ENST00000380916.3 - 4 541 c.75A>T c.(73-75)ttA>ttT p.L25F NM_178566.4 NP_848661.1 Q8IVQ6 ZDH21_HUMAN zinc finger, DHHC-type containing 21 25 nitric oxide metabolic process|regulation of nitric-oxide synthase activity Golgi membrane|integral to membrane palmitoyltransferase activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(2)|skin(1) 9 GBM - Glioblastoma multiforme(50;4.31e-06) CAATATTGTATAACCAAACAA 0.353000 5 298 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155314057 155314057 + Nonsense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:155314057G>A ENST00000460012.1 - 3 457 c.100C>T c.(100-102)Cga>Tga p.R34* PLCH1_ENST00000447496.2_Nonsense_Mutation_p.R52*|PLCH1_ENST00000414191.1_Nonsense_Mutation_p.R34*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.R52*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.R34*|PLCH1_ENST00000494598.1_Nonsense_Mutation_p.R52* Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 52 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGTCGCCATCGGAGGCGTGTC 0.493000 8 416 0 0 1 0 0 DEPDC1B 55789 broad.mit.edu 37 5 59901583 59901583 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:59901583C>T ENST00000265036.5 - 8 1066 c.999G>A c.(997-999)atG>atA p.M333I DEPDC1B_ENST00000509006.1_5'UTR|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.M333I|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.M306I NM_018369.2 NP_060839.2 Q8WUY9 DEP1B_HUMAN DEP domain containing 1B 333 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2) 17 Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17) TCCTTGCCATCATCCTCATCA 0.418000 6 951 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43544964 43544964 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:43544964C>T ENST00000220420.5 - 6 862 c.855G>A c.(853-855)atG>atA p.M285I TGM5_ENST00000349114.4_Missense_Mutation_p.M203I NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 285 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TACCTGTGCACATGACGGCAG 0.582000 84 132 0 0 1 0 0 OR6C6 283365 broad.mit.edu 37 12 55688115 55688115 + Missense_Mutation SNP T T C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:55688115T>C ENST00000358433.2 - 1 901 c.902A>G c.(901-903)gAt>gGt p.D301G NM_001005493.1 NP_001005493.1 A6NF89 OR6C6_HUMAN olfactory receptor, family 6, subfamily C, member 6 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TTGTAATACATCCCAGAAGAC 0.368000 3 108 0 0 1 0 0 PKD2 5311 broad.mit.edu 37 4 88967931 88967931 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:88967931A>T ENST00000237596.2 + 6 1523 c.1457A>T c.(1456-1458)tAc>tTc p.Y486F PKD2_ENST00000508588.1_Intron NM_000297.3 NP_000288.1 Q13563 PKD2_HUMAN polycystic kidney disease 2 (autosomal dominant) 486 basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221) OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237) TTTATCTTTTACTATGTGGTG 0.383000 5 330 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179411072 179411072 + Silent SNP G G T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:179411072G>T ENST00000589042.1 - 342 95210 c.94986C>A c.(94984-94986)gtC>gtA p.V31662V TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.V22722V|TTN_ENST00000342992.6_Silent_p.V29094V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.V22789V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.V22597V|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.V30021V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 30021 Fibronectin type-III 130. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTGCAAAGAGACTTTTTCAC 0.443000 15 218 2.48551e-13 2.6712e-13 1 1 0 NETO1 81832 broad.mit.edu 37 18 70451003 70451003 + Silent SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr18:70451003G>A ENST00000327305.6 - 7 1435 c.778C>T c.(778-780)Cta>Tta p.L260L NETO1_ENST00000299430.2_Silent_p.L259L|NETO1_ENST00000583169.1_Silent_p.L260L NM_138966.3 NP_620416.1 Q8TDF5 NETO1_HUMAN neuropilin (NRP) and tolloid (TLL)-like 1 260 CUB 2. memory|regulation of long-term neuronal synaptic plasticity|visual learning cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane receptor activity NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1) 63 Esophageal squamous(42;0.129) READ - Rectum adenocarcinoma(1;0.0487) CCCGTGCGTAGCATGACATCA 0.473000 4 358 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131913110 131913110 + Missense_Mutation SNP C C T rs143690954 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:131913110C>T ENST00000359827.3 - 6 2685 c.1723G>A c.(1723-1725)Gtg>Atg p.V575M PLXNA4_ENST00000321063.4_Missense_Mutation_p.V575M Q9HCM2 PLXA4_HUMAN plexin A4 575 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTTACCAGCACGTTGTACTGA 0.587000 35 67 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7751105 7751105 + Missense_Mutation SNP G G A rs142420238 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr10:7751105G>A ENST00000358415.4 + 4 479 c.313G>A c.(313-315)Gtg>Atg p.V105M ITIH2_ENST00000379587.4_Missense_Mutation_p.V94M|ITIH2_ENST00000480387.1_Intron NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 105 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCAGAATGTCGTGTTTGATGT 0.443000 30 169 0 0 1 0 0 DNAH10 196385 broad.mit.edu 37 12 124416373 124416373 + Silent SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:124416373G>A ENST00000409039.3 + 74 12778 c.12753G>A c.(12751-12753)aaG>aaA p.K4251K DNAH10OS_ENST00000514254.2_Intron|CCDC92_ENST00000544798.1_Intron|DNAH10_ENST00000538983.1_3'UTR NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4251 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) GGATGACGAAGTCTCTGGCTG 0.562000 26 231 0 0 1 0 0 SFT2D2 375035 broad.mit.edu 37 1 168200778 168200778 + Missense_Mutation SNP G G T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:168200778G>T ENST00000271375.3 + 2 162 c.90G>T c.(88-90)tgG>tgT p.W30C SFT2D2_ENST00000367829.1_Missense_Mutation_p.W30C|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367825.3_Missense_Mutation_p.W30C NM_199344.2 NP_955376.1 O95562 SFT2B_HUMAN SFT2 domain containing 2 30 protein transport|vesicle-mediated transport integral to membrane lung(3)|skin(1) 4 all_hematologic(923;0.215) CATTAAGCTGGAGTACCAGGA 0.363000 6 214 3.09899e-07 3.27407e-07 1 1 0 LY6G6C 80740 broad.mit.edu 37 6 31686952 31686952 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:31686952G>A ENST00000375819.2 - 3 464 c.299C>T c.(298-300)gCa>gTa p.A100V LY6G6C_ENST00000495859.1_Missense_Mutation_p.A44V NM_025261.2 NP_079537.1 O95867 LY66C_HUMAN lymphocyte antigen 6 complex, locus G6C 100 UPAR/Ly6. anchored to membrane|plasma membrane NS(1)|large_intestine(1)|lung(1)|skin(1) 4 CCGGGGTCCTGCGCTGTTGCA 0.592000 4 313 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129904328 129904328 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr10:129904328C>G ENST00000368654.3 - 13 6151 c.5776G>C c.(5776-5778)Gag>Cag p.E1926Q MKI67_ENST00000368653.3_Missense_Mutation_p.E1566Q NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1926 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TCCAGTTTCTCCACTGGAGTC 0.483000 4 367 0 0 1 0 0 MBD3L1 85509 broad.mit.edu 37 19 8953585 8953585 + Nonsense_Mutation SNP C C G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:8953585C>G ENST00000595891.1 + 3 462 c.231C>G c.(229-231)taC>taG p.Y77* MBD3L1_ENST00000305625.2_Nonsense_Mutation_p.Y77* Q8WWY6 MB3L1_HUMAN methyl-CpG binding domain protein 3-like 1 77 Transcription repressor. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 12 TCCAGGCTTACAGCAGTGCAG 0.522000 10 504 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112463456 112463456 + Silent SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:112463456C>T ENST00000230538.7 - 20 2929 c.2532G>A c.(2530-2532)gtG>gtA p.V844V LAMA4_ENST00000389463.4_Silent_p.V837V|LAMA4_ENST00000424408.2_Silent_p.V837V|LAMA4_ENST00000522006.1_Silent_p.V837V NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 844 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) AGTGCACTTCCACAGCTGACT 0.507000 7 145 0 0 1 0 0 CLEC4M 10332 broad.mit.edu 37 19 7832420 7832420 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:7832420A>T ENST00000327325.5 + 6 1073 c.955A>T c.(955-957)Act>Tct p.T319S CLEC4M_ENST00000248228.4_Missense_Mutation_p.T297S|CLEC4M_ENST00000357361.2_Intron|CLEC4M_ENST00000596363.1_Intron|CLEC4M_ENST00000394122.2_Missense_Mutation_p.T307S|CLEC4M_ENST00000597522.1_Intron|CLEC4M_ENST00000595496.1_Missense_Mutation_p.T183S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.T252S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.T252S|CLEC4M_ENST00000334806.5_Missense_Mutation_p.T268S NM_001144909.1|NM_014257.4 NP_001138381.1|NP_055072.3 Q9H2X3 CLC4M_HUMAN C-type lectin domain family 4, member M 319 C-type lectin. cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to plasma membrane ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1) 26 ACAGCTGCAGACTTCCAGGAG 0.552000 7 223 0 0 1 0 0 ITSN2 50618 broad.mit.edu 37 2 24522890 24522890 + Nonsense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:24522890A>T ENST00000355123.4 - 12 1675 c.1232T>A c.(1231-1233)tTa>tAa p.L411* ITSN2_ENST00000406921.3_Nonsense_Mutation_p.L411*|ITSN2_ENST00000361999.3_Nonsense_Mutation_p.L411* NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 411 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTGTTCTTGTAATTCTCTCTG 0.433000 6 239 0 0 1 0 0 RNASEH1 246243 broad.mit.edu 37 2 3597991 3597991 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:3597991C>T ENST00000315212.3 - 4 836 c.481G>A c.(481-483)Ggc>Agc p.G161S NM_002936.3 NP_002927.2 O60930 RNH1_HUMAN ribonuclease H1 161 RNase H. RNA catabolic process cytoplasm magnesium ion binding|ribonuclease H activity|RNA binding endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 13 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22) CAGTAAACGCCGATTCCTGCT 0.517000 7 373 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193120496 193120496 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:193120496C>T ENST00000342695.4 - 30 3858 c.3536G>A c.(3535-3537)gGc>gAc p.G1179D ATP13A4_ENST00000482964.1_5'UTR|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G1160D|ATP13A4_ENST00000400270.2_Missense_Mutation_p.G195D NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1179 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CACTCCTCTGCCACACTCCGG 0.463000 6 218 0 0 1 0 0 RMDN1 51115 broad.mit.edu 37 8 87486540 87486540 + Silent SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:87486540A>G ENST00000406452.3 - 10 1101 c.942T>C c.(940-942)aaT>aaC p.N314N RMDN1_ENST00000519966.1_Silent_p.N271N|RMDN1_ENST00000430676.2_Silent_p.N284N|RMDN1_ENST00000523911.1_Intron NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 AAAGTTCTCAATTCTTCTCAC 0.303000 46 77 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117307926 117307926 + Silent SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:117307926G>A ENST00000321322.6 - 26 4813 c.4812C>T c.(4810-4812)gcC>gcT p.A1604A DSCAML1_ENST00000527706.1_Silent_p.A1334A NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1544 axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGTACCACGTGGCCTCTCGCA 0.647000 4 101 0 0 1 0 0 VIT 5212 broad.mit.edu 37 2 37028452 37028452 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:37028452C>T ENST00000379242.3 + 13 1369 c.1067C>T c.(1066-1068)cCt>cTt p.P356L VIT_ENST00000497382.1_Missense_Mutation_p.P10L|VIT_ENST00000401530.1_Missense_Mutation_p.P320L|VIT_ENST00000379241.3_Missense_Mutation_p.P319L|VIT_ENST00000389975.3_Missense_Mutation_p.P341L|VIT_ENST00000404084.1_Missense_Mutation_p.P293L NM_053276.3 NP_444506.2 Q6UXI7 VITRN_HUMAN vitrin 341 VWFA 1. proteinaceous extracellular matrix autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_hematologic(82;0.248) AGAGACAACCCTGCTACTCAC 0.383000 6 609 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9048971 9048971 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:9048971G>A ENST00000397910.4 - 5 32863 c.32660C>T c.(32659-32661)gCa>gTa p.A10887V NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 10889 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ACTGATCACTGCCCTAGAACT 0.502000 13 1090 0 0 1 0 0 NETO2 81831 broad.mit.edu 37 16 47165938 47165938 + Splice_Site SNP T T A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:47165938T>A ENST00000562435.1 - 2 419 c.e2-2 NETO2_ENST00000303155.5_Splice_Site NM_018092.4 NP_060562.3 Q8NC67 NETO2_HUMAN neuropilin (NRP) and tolloid (TLL)-like 2 integral to membrane receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 29 all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174) TTAACAACACTAGAGAAATAA 0.313000 HNSCC(25;0.065) 5 480 0 0 1 0 0 HBE1 3046 broad.mit.edu 37 11 5289808 5289808 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:5289808A>G ENST00000380237.1 - 5 679 c.335T>C c.(334-336)gTg>gCg p.V112A HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000292896.2_Missense_Mutation_p.V112A P02100 HBE_HUMAN hemoglobin, epsilon 1 112 blood coagulation hemoglobin complex heme binding|oxygen binding|oxygen transporter activity breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CAGAATAATCACCATCACGTT 0.473000 7 434 0 0 1 0 0 TOPORS 10210 broad.mit.edu 37 9 32541877 32541877 + Missense_Mutation SNP A A T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:32541877A>T ENST00000360538.2 - 3 2762 c.2646T>A c.(2644-2646)caT>caA p.H882Q TOPORS_ENST00000379858.1_Missense_Mutation_p.H817Q NM_005802.4 NP_005793.2 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase 882 Interaction with TOP1.|Interaction with UBE2I.|Lys-rich. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 12 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) ttttctttttATGGTGTTTAG 0.373000 10 488 0 0 1 0 0 ABCC3 8714 broad.mit.edu 37 17 48745244 48745244 + Nonsense_Mutation SNP G G A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:48745244G>A ENST00000285238.8 + 13 1736 c.1656G>A c.(1654-1656)tgG>tgA p.W552* ABCC3_ENST00000427699.1_3'UTR NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 552 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) TCACCCTCTGGGTGTACGTGT 0.572000 4 81 0 0 1 0 0 IPO11 51194 broad.mit.edu 37 5 61738818 61738818 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:61738818C>A ENST00000325324.6 + 3 316 c.147C>A c.(145-147)ttC>ttA p.F49L IPO11_ENST00000409296.3_Missense_Mutation_p.F89L|KIF2A_ENST00000509663.2_Intron NM_016338.4 NP_057422.3 Q9UI26 IPO11_HUMAN importin 11 49 Importin N-terminal. cytoplasm|nucleus protein binding endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2) 30 Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077) Lung(70;0.0613) AGAATATTTTCACCAACCACA 0.313000 3 72 2.56e-06 2.65956e-06 1 1 0 CIITA 4261 broad.mit.edu 37 16 11001311 11001311 + Silent SNP C C T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:11001311C>T ENST00000324288.8 + 11 2095 c.1962C>T c.(1960-1962)ccC>ccT p.P654P CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 654 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 ACAGCCCCCCCGGGGCCCTGG 0.682000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 29 41 0 0 1 0 0 ASCC2 84164 broad.mit.edu 37 22 30189476 30189476 + Missense_Mutation SNP G G T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:30189476G>T ENST00000397771.2 - 18 1969 c.1792C>A c.(1792-1794)Cca>Aca p.P598T ASCC2_ENST00000542393.1_Missense_Mutation_p.P522T|ASCC2_ENST00000307790.3_Missense_Mutation_p.P598T Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GGCTGCAGTGGCACCTGCAAT 0.612000 18 28 2.39187e-15 2.58543e-15 1 1 0 TMC2 117532 broad.mit.edu 37 20 2592911 2592911 + Silent SNP C C T rs144876435 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:2592911C>T ENST00000358864.1 + 13 1683 c.1668C>T c.(1666-1668)aaC>aaT p.N556N TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 556 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTGGTTGGAACGAGAGTGTCC 0.498000 114 175 0 0 1 0 0 CTNNA1 1495 broad.mit.edu 37 5 138253483 138253483 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:138253483A>G ENST00000302763.7 + 11 1532 c.1442A>G c.(1441-1443)cAa>cGa p.Q481R CTNNA1_ENST00000520400.1_3'UTR|CTNNA1_ENST00000518825.1_Missense_Mutation_p.Q481R|CTNNA1_ENST00000355078.5_Missense_Mutation_p.Q378R|CTNNA1_ENST00000540387.1_Missense_Mutation_p.Q111R NM_001903.2 NP_001894.2 P35221 CTNA1_HUMAN catenin (cadherin-associated protein), alpha 1, 102kDa 481 adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation actin cytoskeleton|catenin complex|cytosol beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 52 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AAACTGGCCCAAGAGAACATG 0.398000 6 660 0 0 1 0 0 CAAP1 79886 broad.mit.edu 37 9 26842367 26842367 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:26842367C>G ENST00000333916.5 - 6 1106 c.1018G>C c.(1018-1020)Gaa>Caa p.E340Q CAAP1_ENST00000535437.1_Missense_Mutation_p.E195Q|CAAP1_ENST00000520187.1_3'UTR NM_001167575.1|NM_024828.3 NP_001161047.1|NP_079104.3 Q9H8G2 CI082_HUMAN caspase activity and apoptosis inhibitor 1 340 ATCTCAAGTTCTAGCAGCTCC 0.458000 22 154 0 0 1 0 0 CRCP 27297 broad.mit.edu 37 7 65579857 65579857 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:65579857C>G ENST00000431089.2 + 1 45 c.42C>G c.(40-42)agC>agG p.S14R CRCP_ENST00000398684.2_5'UTR|CRCP_ENST00000338592.5_5'UTR|AC068533.7_ENST00000450043.1_Intron|CRCP_ENST00000395326.3_5'UTR NM_001142414.1 NP_001135886.1 O75575 RPC9_HUMAN CGRP receptor component 0 acrosome reaction|innate immune response|response to virus|transcription from RNA polymerase III promoter DNA polymerase III complex|nucleus|plasma membrane calcitonin receptor activity|DNA-directed RNA polymerase activity|nucleotide binding cervix(1)|kidney(1)|lung(4) 6 GCGCGCGGAGCTGGCACCTTG 0.682000 41 60 0 0 0.870114 0 0 KIAA1324 57535 broad.mit.edu 37 1 109740267 109740267 + Nonsense_Mutation SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:109740267C>T ENST00000369939.3 + 16 2476 c.2293C>T c.(2293-2295)Cga>Tga p.R765* KIAA1324_ENST00000529753.1_Nonsense_Mutation_p.R678*|KIAA1324_ENST00000369938.1_3'UTR NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 765 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) CCTTGCTGATCGACTTATTGG 0.527000 8 28 0 0 0.307466 0 0 RORC 6097 broad.mit.edu 37 1 151801927 151801927 + Silent SNP C C A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:151801927C>A ENST00000392697.3 - 3 238 c.210G>T c.(208-210)ctG>ctT p.L70L RORC_ENST00000318247.6_Silent_p.L16L P51449 RORG_HUMAN RAR-related orphan receptor C 16 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) TCTTTGCAGCCAGCAGCTCTG 0.537000 8 126 5.18039e-06 5.51824e-06 0.278610 1 0 FDXR 2232 broad.mit.edu 37 17 72859347 72859347 + Nonstop_Mutation SNP A A C TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:72859347A>C ENST00000455107.2 - 11 1560 c.1144T>G c.(1144-1146)Tga>Gga p.*382G FDXR_ENST00000293195.5_Missense_Mutation_p.V399G|FDXR_ENST00000442102.2_Missense_Mutation_p.V442G|FDXR_ENST00000582944.1_Missense_Mutation_p.V391G|FDXR_ENST00000544854.1_Missense_Mutation_p.V347G|FDXR_ENST00000413947.2_Missense_Mutation_p.V430G|FDXR_ENST00000583917.1_Missense_Mutation_p.V371G|FDXR_ENST00000581530.1_Missense_Mutation_p.V405G|FDXR_ENST00000420580.2_Missense_Mutation_p.V359G P22570 ADRO_HUMAN ferredoxin reductase 0 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) TCCTCTCTTCACCCAGCCGCT 0.597000 4 11 0 0 0.278610 0 0 CCKBR 887 broad.mit.edu 37 11 6292065 6292065 + Silent SNP C C A rs1800843 by1000genomes TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:6292065C>A ENST00000525462.1 + 4 846 c.843C>A c.(841-843)ggC>ggA p.G281G CCKBR_ENST00000532715.1_Intron|CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532396.1_Intron P32239 GASR_HUMAN cholecystokinin B receptor 241 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception 1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139) Pentagastrin(DB00183) AAAATCTGGGCGAGGCGGAGC 0.622000 3 42 6.4e-05 6.67234e-05 0.115264 1 0 SSTR5 6755 broad.mit.edu 37 16 1129327 1129327 + Silent SNP G G A rs141899937 TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:1129327G>A ENST00000293897.4 + 1 547 c.459G>A c.(457-459)ccG>ccA p.P153P SSTR5_ENST00000562758.1_Silent_p.P153P|SSTR5_ENST00000397547.2_Silent_p.P153P NM_001053.3 NP_001044.1 P35346 SSR5_HUMAN somatostatin receptor 5 153 negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.P153P(1) endometrium(2)|lung(5)|prostate(1)|skin(1) 9 Hepatocellular(780;0.00369) Octreotide(DB00104) GGCGCCGCCCGCGTGTGGCCA 0.687000 13 7 0 0 0.500413 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399610 8399610 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:8399610A>G ENST00000471889.1 + 8 2217 c.1832A>G c.(1831-1833)tAt>tGt p.Y611C SLC45A1_ENST00000289877.8_Missense_Mutation_p.Y611C|SLC45A1_ENST00000377479.2_Missense_Mutation_p.Y645C Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 611 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) TTCATCGCCTATCTCGCCTTC 0.607000 107 34 0 0 0.870114 0 0 ALB 213 broad.mit.edu 37 4 74270115 74270115 + Missense_Mutation SNP G G A rs74821926 TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:74270115G>A ENST00000295897.4 + 1 160 c.71G>A c.(70-72)cGa>cAa p.R24Q ALB_ENST00000509063.1_Missense_Mutation_p.R24Q|ALB_ENST00000401494.3_Missense_Mutation_p.R24Q|ALB_ENST00000503124.1_5'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.R24Q NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 24 Albumin 1. R -> L (in Jaffna).|R -> P (in Takefu/Honolulu-1).|R -> Q (in Christchurch/Honolulu-2). bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GTGTTTCGTCGAGATGCACGT 0.363000 72 106 0 0 0.870114 0 0 PRR23B 389151 broad.mit.edu 37 3 138739488 138739488 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:138739488G>A ENST00000329447.5 - 1 280 c.16C>T c.(16-18)Cgc>Tgc p.R6C MRPS22_ENST00000495075.1_Intron NM_001013650.2 NP_001013672.1 Q6ZRT6 PR23B_HUMAN proline rich 23B 6 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTGGGGCTGCGGGGCCGGCTG 0.721000 6 3 0 0 0.248553 0 0 TGM5 9333 broad.mit.edu 37 15 43544964 43544964 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:43544964C>T ENST00000220420.5 - 6 862 c.855G>A c.(853-855)atG>atA p.M285I TGM5_ENST00000349114.4_Missense_Mutation_p.M203I NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 285 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) TACCTGTGCACATGACGGCAG 0.582000 69 91 0 0 0.870114 0 0 CD109 135228 broad.mit.edu 37 6 74440152 74440152 + Missense_Mutation SNP G G A rs111900767 TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:74440152G>A ENST00000437994.2 + 4 793 c.362G>A c.(361-363)cGc>cAc p.R121H CD109_ENST00000287097.5_Missense_Mutation_p.R121H|CD109_ENST00000422508.2_Intron NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 121 anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 AATAGTACCCGCTTATCATTT 0.418000 84 28 0 0 0.870114 0 0 OR6Q1 219952 broad.mit.edu 37 11 57798663 57798663 + Missense_Mutation SNP T T G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:57798663T>G ENST00000302622.3 + 1 262 c.239T>G c.(238-240)gTg>gGg p.V80G OR9Q1_ENST00000335397.3_Intron NM_001005186.2 NP_001005186.2 Q8NGQ2 OR6Q1_HUMAN olfactory receptor, family 6, subfamily Q, member 1 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Breast(21;0.0707)|all_epithelial(135;0.142) TCTGTTACAGTGCCCAAGATG 0.473000 154 55 0 0 0.870114 0 0 CAMTA1 23261 broad.mit.edu 37 1 7797351 7797351 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:7797351G>A ENST00000303635.7 + 15 3586 c.3379G>A c.(3379-3381)Gtc>Atc p.V1127I CAMTA1_ENST00000439411.2_Missense_Mutation_p.V1127I NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 1127 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGAAGCTGCCGTCGTGCTGTA 0.557000 T WWTR1 epitheliod hemangioendothelioma 6 163 0 0 0.278610 0 0 PLXNA4 91584 broad.mit.edu 37 7 131913110 131913110 + Missense_Mutation SNP C C T rs143690954 by1000genomes TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:131913110C>T ENST00000359827.3 - 6 2685 c.1723G>A c.(1723-1725)Gtg>Atg p.V575M PLXNA4_ENST00000321063.4_Missense_Mutation_p.V575M Q9HCM2 PLXA4_HUMAN plexin A4 575 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 CTTACCAGCACGTTGTACTGA 0.587000 35 46 0 0 0.769981 0 0 ITIH2 3698 broad.mit.edu 37 10 7751105 7751105 + Missense_Mutation SNP G G A rs142420238 TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr10:7751105G>A ENST00000358415.4 + 4 479 c.313G>A c.(313-315)Gtg>Atg p.V105M ITIH2_ENST00000480387.1_Intron|ITIH2_ENST00000379587.4_Missense_Mutation_p.V94M NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 105 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 TCAGAATGTCGTGTTTGATGT 0.443000 25 65 0 0 0.693898 0 0 IL12RB1 3594 broad.mit.edu 37 19 18173055 18173055 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:18173055C>T ENST00000600835.1 - 15 1954 c.1651G>A c.(1651-1653)Gcc>Acc p.A551T IL12RB1_ENST00000430026.2_Missense_Mutation_p.A551T|IL12RB1_ENST00000593993.1_Missense_Mutation_p.A551T P42701 I12R1_HUMAN interleukin 12 receptor, beta 1 551 cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response interleukin-12 receptor complex|interleukin-23 receptor complex cytokine receptor activity endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2) 8 CCCAGGGAGGCGAAGAAGATG 0.572000 10 92 0 0 0.387290 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789895 140789895 + Missense_Mutation SNP T T A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:140789895T>A ENST00000520790.1 + 1 2126 c.2126T>A c.(2125-2127)cTg>cAg p.L709Q PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGTGATTCTGGCCATTGCC 0.587000 98 113 0 0 0.870114 0 0 C1QC 714 broad.mit.edu 37 1 22974251 22974251 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:22974251C>G ENST00000374639.3 + 3 831 c.713C>G c.(712-714)tCc>tGc p.S238C C1QC_ENST00000374640.4_Missense_Mutation_p.S238C|C1QC_ENST00000374637.1_Missense_Mutation_p.S238C NM_001114101.1 NP_001107573.1 P02747 C1QC_HUMAN complement component 1, q subcomponent, C chain 238 C1q. complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation collagen endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) AGCGTCTTCTCCGGCTTCCTG 0.642000 13 55 0 0 0.500413 0 0 GTF3C2 2976 broad.mit.edu 37 2 27559290 27559290 + Missense_Mutation SNP A A G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:27559290A>G ENST00000359541.2 - 8 1559 c.1130T>C c.(1129-1131)tTt>tCt p.F377S AC109828.1_ENST00000592265.1_RNA|AC109828.1_ENST00000416453.2_RNA|AC109828.1_ENST00000585326.1_RNA|GTF3C2_ENST00000264720.3_Missense_Mutation_p.F377S Q8WUA4 TF3C2_HUMAN general transcription factor IIIC, polypeptide 2, beta 110kDa 377 transcription factor TFIIIC complex central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 38 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GATCGAGCTAAATCTAGAGAA 0.532000 14 54 0 0 0.457914 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38692610 38692610 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:38692610C>T ENST00000222345.6 + 20 5602 c.5093C>T c.(5092-5094)cCg>cTg p.P1698L NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 1698 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGGGGACCCCCGACCCCCAGG 0.647000 49 87 0 0 0.870114 0 0 ATP1A3 478 broad.mit.edu 37 19 42492233 42492233 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:42492233G>A ENST00000545399.1 - 4 404 c.251C>T c.(250-252)aCg>aTg p.T84M ATP1A3_ENST00000302102.5_Missense_Mutation_p.T71M|ATP1A3_ENST00000602133.1_Missense_Mutation_p.T41M|ATP1A3_ENST00000543770.1_Missense_Mutation_p.T82M|ATP1A3_ENST00000468774.2_5'UTR NM_001256214.1 NP_001243143.1 P13637 AT1A3_HUMAN ATPase, Na+/K+ transporting, alpha 3 polypeptide 71 ATP biosynthetic process endoplasmic reticulum|Golgi apparatus ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 52 AGGCGGTGGCGTGAGTGCGTT 0.632000 95 126 0 0 0.870114 0 0 ELFN2 114794 broad.mit.edu 37 22 37770867 37770867 + Silent SNP G G A rs149957183 TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:37770867G>A ENST00000402918.1 - 3 1493 c.708C>T c.(706-708)aaC>aaT p.N236N ELFN2_ENST00000349653.3_Silent_p.N236N|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 236 LRRCT. cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CGGTGATGGCGTTGAGGCTGT 0.677000 21 24 0 0 0.693898 0 0 SAMD4B 55095 broad.mit.edu 37 19 39868378 39868378 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:39868378C>T ENST00000314471.6 + 10 2393 c.1358C>T c.(1357-1359)cCa>cTa p.P453L SAMD4B_ENST00000596368.1_Intron|SAMD4B_ENST00000598913.1_Missense_Mutation_p.P453L NM_018028.2 NP_060498.2 Q5PRF9 SMAG2_HUMAN sterile alpha motif domain containing 4B 453 protein binding autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2) 15 all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512) Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199) CCACCAGCTCCAGCTCCCACT 0.657000 46 80 0 0 0.870114 0 0 RMDN1 51115 broad.mit.edu 37 8 87486540 87486540 + Silent SNP A A G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:87486540A>G ENST00000406452.3 - 10 1101 c.942T>C c.(940-942)aaT>aaC p.N314N RMDN1_ENST00000430676.2_Silent_p.N284N|RMDN1_ENST00000519966.1_Silent_p.N271N|RMDN1_ENST00000523911.1_Intron NM_016033.2 NP_057117.2 regulator of microtubule dynamics 1 AAAGTTCTCAATTCTTCTCAC 0.303000 65 96 0 0 0.870114 0 0 RADIL 55698 broad.mit.edu 37 7 4841532 4841532 + Missense_Mutation SNP G G A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:4841532G>A ENST00000399583.3 - 12 2781 c.2594C>T c.(2593-2595)cCg>cTg p.P865L RADIL_ENST00000538469.1_Missense_Mutation_p.P625L|RADIL_ENST00000536091.1_3'UTR NM_018059.4 NP_060529.4 Q96JH8 RADIL_HUMAN Ras association and DIL domains 865 Pro-rich. cell adhesion|multicellular organismal development|signal transduction protein binding NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15) AGTACGCTCCGGGGCCACTTC 0.736000 7 9 0 0 0.248553 0 0 NOS1 4842 broad.mit.edu 37 12 117665398 117665398 + Missense_Mutation SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:117665398C>T ENST00000317775.6 - 23 4139 c.3454G>A c.(3454-3456)Gtg>Atg p.V1152M NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.V1186M NM_000620.4|NM_001204218.1 NP_000611.1|NP_001191147.1 P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 1152 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGCACCTCCACGATGGTGGGG 0.577000 7 269 0 0 0.278610 0 0 TUBBP5 643224 broad.mit.edu 37 9 141069913 141069913 + RNA SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:141069913C>T ENST00000503395.1 + 0 1122 TGCACCACCACGAGGCCAGCG 0.662000 6 7 0 0 0.278610 0 0 WDR27 253769 broad.mit.edu 37 6 170033136 170033136 + Missense_Mutation SNP C C A TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:170033136C>A ENST00000333572.6 - 21 2649 c.2130G>T c.(2128-2130)agG>agT p.R710S WDR27_ENST00000448612.1_Missense_Mutation_p.R710S|WDR27_ENST00000423258.1_Missense_Mutation_p.R583S|WDR27_ENST00000546525.1_5'UTR A2RRH5 WDR27_HUMAN WD repeat domain 27 680 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1) 12 Breast(66;1.53e-05)|Ovarian(120;0.216) OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168) CTTCCACGGTCCTGTTCCGGC 0.532000 25 6 3.73808e-20 4.16286e-20 0.693898 1 0 CIITA 4261 broad.mit.edu 37 16 11001311 11001311 + Silent SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:11001311C>T ENST00000324288.8 + 11 2095 c.1962C>T c.(1960-1962)ccC>ccT p.P654P CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 654 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 ACAGCCCCCCCGGGGCCCTGG 0.682000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 40 45 0 0 0.812448 0 0 SCYL1 57410 broad.mit.edu 37 11 65293511 65293511 + Silent SNP C C T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:65293511C>T ENST00000524944.1 + 3 405 c.372C>T c.(370-372)atC>atT p.I124I SCYL1_ENST00000420247.2_Silent_p.I124I|SCYL1_ENST00000527630.1_Silent_p.I124I|SCYL1_ENST00000279270.6_Silent_p.I124I|SCYL1_ENST00000527009.1_5'UTR|SCYL1_ENST00000270176.5_Silent_p.I124I|SCYL1_ENST00000533862.1_Silent_p.I124I|SCYL1_ENST00000525364.1_Silent_p.I124I Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 124 Protein kinase. regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 TACACCAGATCGTGGTGAGGT 0.617000 10 99 0 0 0.361761 0 0 PRPF40B 25766 broad.mit.edu 37 12 50025308 50025308 + Missense_Mutation SNP C C T rs149751647 TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:50025308C>T ENST00000261897.1 + 2 676 c.125C>T c.(124-126)gCg>gTg p.A42V PRPF40B_ENST00000548825.2_Missense_Mutation_p.A70V|PRPF40B_ENST00000380281.1_Missense_Mutation_p.A48V Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 48 Pro-rich. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCAATGGGGGCGCCACCACCA 0.612000 35 187 0 0 0.796494 0 0 TMC2 117532 broad.mit.edu 37 20 2592911 2592911 + Silent SNP C C T rs144876435 byFrequency TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:2592911C>T ENST00000358864.1 + 13 1683 c.1668C>T c.(1666-1668)aaC>aaT p.N556N TMC2_ENST00000496948.1_3'UTR NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 556 integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 CTGGTTGGAACGAGAGTGTCC 0.498000 133 157 0 0 0.870114 0 0 CAAP1 79886 broad.mit.edu 37 9 26842367 26842367 + Missense_Mutation SNP C C G TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:26842367C>G ENST00000333916.5 - 6 1106 c.1018G>C c.(1018-1020)Gaa>Caa p.E340Q CAAP1_ENST00000535437.1_Missense_Mutation_p.E195Q|CAAP1_ENST00000520187.1_3'UTR NM_001167575.1|NM_024828.3 NP_001161047.1|NP_079104.3 Q9H8G2 CI082_HUMAN caspase activity and apoptosis inhibitor 1 340 ATCTCAAGTTCTAGCAGCTCC 0.458000 27 172 0 0 0.729181 0 0 ASCC2 84164 broad.mit.edu 37 22 30189476 30189476 + Missense_Mutation SNP G G T TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:30189476G>T ENST00000397771.2 - 18 1969 c.1792C>A c.(1792-1794)Cca>Aca p.P598T ASCC2_ENST00000307790.3_Missense_Mutation_p.P598T|ASCC2_ENST00000542393.1_Missense_Mutation_p.P522T Q9H1I8 ASCC2_HUMAN activating signal cointegrator 1 complex subunit 2 598 regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259) GGCTGCAGTGGCACCTGCAAT 0.612000 21 63 7.87624e-14 8.57636e-14 0.639603 1 0 SSU72 29101 broad.mit.edu 37 1 1500119 1500120 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:1500119_1500120insG ENST00000359060.4 - 2 283_284 c.257_258insC c.(256-258)ctgfs p.L86fs SSU72_ENST00000291386.3_Intron Q9NP77 SSU72_HUMAN SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae) 0 mRNA processing cytoplasm|nucleus phosphoprotein phosphatase activity large_intestine(2)|lung(5) 7 all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205) GAGGACCACACGGGGGGTTTTT 0.505 9 560 --- --- --- --- CROCCP2 84809 broad.mit.edu 37 1 16946501 16946501 + RNA DEL G G - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:16946501delG ENST00000412962.1 - 0 1018 TCGGCCTCCAGCTCCCGCCAT 0.667 6 5 --- --- --- --- ARID1A 8289 broad.mit.edu 37 1 27105930 27105931 + Frame_Shift_Ins INS - - G rs140055856 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:27105930_27105931insG ENST00000324856.7 + 20 5912_5913 c.5541_5542insG c.(5539-5544)ggggggfs p.GG1847fs ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs|ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding p.G1848fs*6(3) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 14 227 --- --- --- --- KIAA1522 57648 broad.mit.edu 37 1 33233494 33233495 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:33233494_33233495insC ENST00000401073.2 + 2 412_413 c.342_343insC c.(340-345)cgccccfs p.RP114fs KIAA1522_ENST00000373480.1_Frame_Shift_Ins_p.RP55fs|KIAA1522_ENST00000373481.3_Frame_Shift_Ins_p.RP66fs|KIAA1522_ENST00000294521.3_Frame_Shift_Ins_p.RP55fs NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 55 S -> P (in dbSNP:rs3737994). breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) CCAGTGGGCGACCCCCCCACCT 0.614 8 157 --- --- --- --- AGO1 26523 broad.mit.edu 37 1 36354044 36354045 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:36354044_36354045insC ENST00000373204.4 + 2 255_256 c.42_43insC c.(40-45)ctccccfs p.LP14fs AGO1_ENST00000373206.1_5'UTR NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 GCGCTTACCTGCCCCCCCTGCA 0.569 7 156 --- --- --- --- CSF3R 1441 broad.mit.edu 37 1 36935322 36935323 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:36935322_36935323insG ENST00000373103.1 - 11 1951_1952 c.1404_1405insC c.(1402-1407)ccgcgcfs p.R469fs CSF3R_ENST00000440588.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000418048.2_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373104.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000338937.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000373106.1_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000361632.4_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000331941.5_Frame_Shift_Ins_p.R469fs|CSF3R_ENST00000487540.2_5'UTR NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 469 Fibronectin type-III 4. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTGCTCGCGCTGGGGGGGCCCA 0.634 11 272 --- --- --- --- FAM151A 338094 broad.mit.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:55081756_55081757insG ENST00000302250.2 - 3 511_512 c.351_352insC c.(349-354)ccctatfs p.Y118fs ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs NM_176782.2 NP_788954.2 Q8WW52 F151A_HUMAN family with sequence similarity 151, member A 118 integral to membrane p.T118fs*43(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 12 CTGTAGATAGTGGGGGGGTGTG 0.594 11 403 --- --- --- --- GBP7 388646 broad.mit.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C rs138127555 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:89613321_89613322insC ENST00000294671.2 - 8 1431_1432 c.1293_1294insG c.(1291-1296)ggacaafs p.Q432fs NM_207398.2 NP_997281.2 Q8N8V2 GBP7_HUMAN guanylate binding protein 7 432 integral to membrane GTP binding|GTPase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 Lung NSC(277;0.0908) all cancers(265;0.00835)|Epithelial(280;0.0322) TAGATATTGTGCCCCCCCGGAA 0.436 15 206 --- --- --- --- EPHX4 253152 broad.mit.edu 37 1 92511121 92511122 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:92511121_92511122insG ENST00000370383.4 + 4 606_607 c.508_509insG c.(508-510)gggfs p.G170fs NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 170 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 TGGCCATGACTGGGGGGGCATG 0.386 22 310 --- --- --- --- SLC16A1 6566 broad.mit.edu 37 1 113471889 113471890 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:113471889_113471890insG ENST00000538576.1 - 2 872_873 c.41_42insC c.(40-42)cgafs p.R14fs SLC16A1_ENST00000369626.3_Frame_Shift_Ins_p.R14fs|SLC16A1_ENST00000478835.1_5'UTR|SLC16A1_ENST00000433570.4_Frame_Shift_Ins_p.R14fs NM_001166496.1 NP_001159968.1 P53985 MOT1_HUMAN solute carrier family 16 (monocarboxylate transporter), member 1 14 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process integral to membrane|membrane fraction|plasma membrane mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1) 20 Lung SC(450;0.246) all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232) Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643) Pyruvic acid(DB00119) AGCCTCCATCTGGGGGGGTGTA 0.426 9 56 --- --- --- --- RFX5 5993 broad.mit.edu 37 1 151318740 151318741 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:151318740_151318741insG ENST00000290524.4 - 3 234_235 c.56_57insC c.(55-57)cggfs p.R19fs RFX5_ENST00000478564.1_5'UTR|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs NM_000449.3|NM_001025603.1 NP_000440.1|NP_001020774.1 P48382 RFX5_HUMAN regulatory factor X, 5 (influences HLA class II expression) 19 nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 20 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGCACCACCTGGGGGGGCCCT 0.554 10 265 --- --- --- --- ISG20L2 81875 broad.mit.edu 37 1 156694022 156694023 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:156694022_156694023insG ENST00000313146.6 - 2 1647_1648 c.865_866insC c.(865-867)caafs p.Q289fs ISG20L2_ENST00000368219.1_Frame_Shift_Ins_p.Q289fs|ISG20L2_ENST00000472824.1_5'UTR NM_030980.1 NP_112242.1 Q9H9L3 I20L2_HUMAN interferon stimulated exonuclease gene 20kDa-like 2 289 Exonuclease. ribosome biogenesis nucleolus exonuclease activity|nucleic acid binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 16 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CTTCCGGTTGAGGGGGGGGATA 0.559 12 120 --- --- --- --- MRPL24 79590 broad.mit.edu 37 1 156708444 156708445 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:156708444_156708445insG ENST00000368211.4 - 2 190_191 c.52_53insC c.(52-54)ttafs p.L18fs MRPL24_ENST00000361531.2_Frame_Shift_Ins_p.L18fs NM_024540.3|NM_145729.2 NP_078816.2|NP_663781.1 Q96A35 RM24_HUMAN mitochondrial ribosomal protein L24 18 translation mitochondrion|ribosome structural constituent of ribosome endometrium(1)|large_intestine(1)|lung(4) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATAGCGGTAATGGGGGGGCAGA 0.574 8 151 --- --- --- --- IGSF9 57549 broad.mit.edu 37 1 159904586 159904587 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:159904586_159904587insG ENST00000368094.1 - 7 896_897 c.699_700insC c.(697-702)ccagaafs p.E234fs IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs NM_001135050.1 NP_001128522.1 Q9P2J2 TUTLA_HUMAN immunoglobulin superfamily, member 9 234 Ig-like 3. cell junction|integral to membrane|synapse central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) GTGCTGTTCTTGGGGGGCACCA 0.569 11 272 --- --- --- --- ADCY10 55811 broad.mit.edu 37 1 167865905 167865906 + Frame_Shift_Ins INS - - G rs35604923 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:167865905_167865906insG ENST00000367848.1 - 7 887_888 c.390_391insC c.(388-393)ccatttfs p.F131fs ADCY10_ENST00000367851.4_Frame_Shift_Ins_p.F223fs|ADCY10_ENST00000545172.1_Frame_Shift_Ins_p.F70fs Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 223 Guanylate cyclase 1. intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 AAATTAAAATTGGGGGGTGGTT 0.332 7 585 --- --- --- --- PAPPA2 60676 broad.mit.edu 37 1 176762723 176762724 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:176762723_176762724insC ENST00000367662.3 + 20 6212_6213 c.5048_5049insC c.(5047-5049)accfs p.T1683fs NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1683 Sushi 5. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 TTGTGTGTAATCCCCCCCAGTG 0.470 16 372 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201046125 201046126 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:201046125_201046126insC ENST00000362061.3 - 12 1975_1976 c.1749_1750insG c.(1747-1752)ggggtafs p.V584fs CACNA1S_ENST00000367338.3_Frame_Shift_Ins_p.V584fs NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 584 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AAGTCATACCTCCCCCCAAAGA 0.574 8 287 --- --- --- --- FMOD 2331 broad.mit.edu 37 1 203316599 203316600 + Frame_Shift_Ins INS - - C rs139730140 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:203316599_203316600insC ENST00000354955.4 - 2 1262_1263 c.799_800insG c.(799-801)gccfs p.A267fs FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 267 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CAGCTTGGGCGCCCCCCGGAAG 0.579 9 253 --- --- --- --- ATP2B4 493 broad.mit.edu 37 1 203667345 203667346 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:203667345_203667346insC ENST00000357681.5 + 3 1377_1378 c.254_255insC c.(253-255)accfs p.T85fs ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 85 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CACAACGTGATCCCCCCCAAAA 0.480 8 182 --- --- --- --- ACTA1 58 broad.mit.edu 37 1 229567546 229567547 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr1:229567546_229567547insC ENST00000366684.3 - 6 1013_1014 c.911_912insG c.(910-912)gacfs p.D304fs ACTA1_ENST00000366683.2_Frame_Shift_Ins_p.D216fs NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 304 muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) ACATCGTGGTGCCCCCCGACAT 0.589 7 153 --- --- --- --- NRBP1 29959 broad.mit.edu 37 2 27658017 27658018 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:27658017_27658018insC ENST00000233557.3 + 8 1416_1417 c.584_585insC c.(583-585)gccfs p.A195fs NRBP1_ENST00000379852.3_Frame_Shift_Ins_p.A195fs|NRBP1_ENST00000379863.3_Frame_Shift_Ins_p.A195fs Q9UHY1 NRBP_HUMAN nuclear receptor binding protein 1 195 Protein kinase. ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm ATP binding|protein homodimerization activity|protein kinase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 Acute lymphoblastic leukemia(172;0.155) CACTCCTGTGACCCCCCCATCA 0.589 7 164 --- --- --- --- DCTN1 1639 broad.mit.edu 37 2 74593376 74593377 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:74593376_74593377insG ENST00000361874.3 - 23 3071_3072 c.2754_2755insC c.(2752-2757)ccgcaafs p.Q919fs DCTN1_ENST00000409438.1_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Frame_Shift_Ins_p.Q912fs|DCTN1_ENST00000407639.2_Frame_Shift_Ins_p.Q785fs|DCTN1_ENST00000409868.1_Frame_Shift_Ins_p.Q902fs|DCTN1_ENST00000409567.3_Frame_Shift_Ins_p.Q899fs|DCTN1_ENST00000409240.1_Frame_Shift_Ins_p.Q882fs NM_004082.4 NP_004073.2 Q14203 DCTN1_HUMAN dynactin 1 919 cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development centrosome|cytosol|kinetochore|microtubule|spindle pole motor activity|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3) 45 CCTACCTTGCTGGGGGGCCGCT 0.559 7 510 --- --- --- --- USP39 10713 broad.mit.edu 37 2 85863227 85863228 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:85863227_85863228insG ENST00000323701.6 + 7 1011_1012 c.1001_1002insG c.(1000-1002)cggfs p.R334fs USP39_ENST00000459775.1_3'UTR|USP39_ENST00000450066.2_Frame_Shift_Ins_p.R231fs|USP39_ENST00000409025.1_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409766.3_Frame_Shift_Ins_p.R334fs|USP39_ENST00000409470.1_Frame_Shift_Ins_p.R334fs NM_006590.3 NP_006581.2 Q53GS9 SNUT2_HUMAN ubiquitin specific peptidase 39 334 spliceosome assembly|ubiquitin-dependent protein catabolic process nucleus protein binding|ubiquitin thiolesterase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 19 CACTCAGCTCTGGGGGGCACAA 0.416 9 609 --- --- --- --- ANKRD36BP2 645784 broad.mit.edu 37 2 89082293 89082294 + RNA INS - - ATTT TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:89082293_89082294insATTT ENST00000393525.3 + 0 503 ATTAAAGTCTCATATGTTGAAC 0.332 8 36 --- --- --- --- MCM6 4175 broad.mit.edu 37 2 136622724 136622725 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:136622724_136622725insC ENST00000264156.2 - 7 996_997 c.936_937insG c.(934-939)ggaagafs p.R313fs NM_005915.5 NP_005906.2 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 313 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) CTGAGCTCTTTCCCCCCAAACT 0.376 7 298 --- --- --- --- XIRP2 129446 broad.mit.edu 37 2 168099957 168099958 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:168099957_168099958insG ENST00000409195.1 + 9 2144_2145 c.2055_2056insG c.(2053-2058)acggggfs p.TG685fs XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000409605.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 510 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AGGACATAACTGGGGGGGATGT 0.421 7 167 --- --- --- --- MYO3B 140469 broad.mit.edu 37 2 171240258 171240259 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:171240258_171240259insC ENST00000334231.6 + 12 1251_1252 c.1251_1252insC c.(1249-1254)aaccccfs p.NP417fs MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000602629.1_3'UTR Q8WXR4 MYO3B_HUMAN myosin IIIB 408 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GCGCCTCCAATCCCCCCCACAT 0.465 10 203 --- --- --- --- ITGAV 3685 broad.mit.edu 37 2 187521084 187521085 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:187521084_187521085insG ENST00000261023.3 + 17 1949_1950 c.1675_1676insG c.(1675-1677)gggfs p.G559fs ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs|ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA NM_002210.3 NP_002201.1 P06756 ITAV_HUMAN integrin, alpha V 559 angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) GACTATTTCAAGGGGGGGACTG 0.431 14 367 --- --- --- --- ADAM23 8745 broad.mit.edu 37 2 207460860 207460861 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:207460860_207460861insC ENST00000264377.3 + 24 2661_2662 c.2333_2334insC c.(2332-2334)cccfs p.P778fs ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs NM_003812.2 NP_003803.1 O75077 ADA23_HUMAN ADAM metallopeptidase domain 23 778 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding p.K781fs*3(2) NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) AGGAACCTTCACCCCCCCAAGG 0.455 7 111 --- --- --- --- RNF25 64320 broad.mit.edu 37 2 219529039 219529040 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:219529039_219529040insG ENST00000295704.2 - 10 1460_1461 c.1020_1021insC c.(1018-1023)ccagccfs p.A341fs NM_022453.2 NP_071898.2 Q96BH1 RNF25_HUMAN ring finger protein 25 341 positive regulation of NF-kappaB transcription factor activity cytosol|nucleus NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Renal(207;0.0474) Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CGACTGGGCTTGGGGGGATCTA 0.604 7 217 --- --- --- --- NDUFA10 4705 broad.mit.edu 37 2 240954220 240954221 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr2:240954220_240954221insG ENST00000252711.2 - 5 704_705 c.604_605insC c.(604-606)cctfs p.P202fs NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs|NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs NM_004544.3 NP_004535.1 O95299 NDUAA_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa 202 mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport mitochondrial matrix|mitochondrial respiratory chain complex I ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8) 16 all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202) NADH(DB00157) AATCACCAGGTGGGGGGGCAGG 0.535 22 482 --- --- --- --- SRGAP3 9901 broad.mit.edu 37 3 9034599 9034600 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:9034599_9034600insC ENST00000383836.3 - 20 2975_2976 c.2548_2549insG c.(2548-2550)gatfs p.D850fs SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 850 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CCGGCCCATCACCCCCCCAAAG 0.554 T RAF1 pilocytic astrocytoma 11 225 --- --- --- --- FANCD2 2177 broad.mit.edu 37 3 10088407 10088410 + Splice_Site DEL AGTA AGTA - rs146316187 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:10088407_10088410delAGTA ENST00000287647.3 + 15 1371 c.1278_splice c.e15+1 p.426_splice FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 426 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TTCATTACTTAGTAAGTGTCAGAG 0.358 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 18 149 --- --- --- --- TATDN2 9797 broad.mit.edu 37 3 10312538 10312539 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:10312538_10312539insG ENST00000287652.4 + 4 2723_2724 c.1672_1673insG c.(1672-1674)gggfs p.G558fs RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Frame_Shift_Ins_p.G558fs NM_014760.3 NP_055575.3 Q93075 TATD2_HUMAN TatD DNase domain containing 2 558 nucleus endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2) 28 GGATCTGGTCTGGGGGGCCTTT 0.505 7 749 --- --- --- --- DCLK3 85443 broad.mit.edu 37 3 36759523 36759524 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:36759523_36759524insG ENST00000416516.2 - 4 2220_2221 c.1730_1731insC c.(1729-1731)ctafs p.L577fs NM_033403.1 NP_208382.1 Q9C098 DCLK3_HUMAN doublecortin-like kinase 3 577 Protein kinase. cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 48 TGTCCCAGTAAGGGGGGAGGAA 0.540 7 675 --- --- --- --- MLH1 4292 broad.mit.edu 37 3 37070348 37070349 + Frame_Shift_Ins INS - - C rs63750855 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:37070348_37070349insC ENST00000231790.2 + 13 1699_1700 c.1483_1484insC c.(1483-1485)cccfs p.P495fs MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs NM_000249.3|NM_001258273.1 NP_000240.1|NP_001245202.1 P40692 MLH1_HUMAN mutL homolog 1 495 Interaction with EXO1. mismatch repair|somatic hypermutation of immunoglobulin genes chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|protein binding p.T495A(1)|p.0?(1) NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 127 TGCAGCTTGTACCCCCCGGAGA 0.470 1 """D, Mis, N, F, S""" """colorectal, endometrial, ovarian, CNS""" """colorectal, endometrial, ovarian, CNS""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 12 1092 --- --- --- --- RNF123 63891 broad.mit.edu 37 3 49740082 49740083 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:49740082_49740083insC ENST00000327697.6 + 20 1790_1791 c.1646_1647insC c.(1645-1647)tccfs p.S549fs RNF123_ENST00000432042.1_Frame_Shift_Ins_p.S403fs NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 549 cytoplasm ligase activity|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) CCCATGCTCTGCCCCCCTGAGT 0.550 10 692 --- --- --- --- RBM6 10180 broad.mit.edu 37 3 50005144 50005145 + Frame_Shift_Ins INS - - G rs141234052 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:50005144_50005145insG ENST00000266022.4 + 3 545_546 c.286_287insG c.(286-288)gggfs p.G96fs RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000422955.1_Intron NM_005777.2 NP_005768.1 P78332 RBM6_HUMAN RNA binding motif protein 6 96 RNA processing nucleus DNA binding|nucleotide binding|RNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977) ACATGATTTCAGGGGGGGAGAT 0.495 11 297 --- --- --- --- VPRBP 9730 broad.mit.edu 37 3 51457614 51457615 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:51457614_51457615insG ENST00000335891.5 - 7 1471_1472 c.1462_1463insC c.(1462-1464)gggfs p.G488fs Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 937 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TAGCGGACCCTGGGGGGGCCGT 0.589 13 133 --- --- --- --- PRKCD 5580 broad.mit.edu 37 3 53220652 53220653 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:53220652_53220653insG ENST00000394729.2 + 13 1621_1622 c.1293_1294insG c.(1291-1296)aaggggfs p.KG431fs PRKCD_ENST00000330452.3_Frame_Shift_Ins_p.KG431fs NM_212539.1 NP_997704.1 Q05655 KPCD_HUMAN protein kinase C, delta 431 Protein kinase. activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction cytosol|endoplasmic reticulum|nucleoplasm ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Ovarian(412;0.0728) OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173) AGTTCCTCAACGGGGGGGACCT 0.604 17 872 --- --- --- --- KCTD6 200845 broad.mit.edu 37 3 58486771 58486772 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:58486771_58486772insG ENST00000355076.6 + 2 1109_1110 c.126_127insG c.(124-129)ttggggfs p.LG42fs KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs NM_153331.3 NP_699162.3 Q8NC69 KCTD6_HUMAN potassium channel tetramerization domain containing 6 42 BTB. voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(2)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148) GAGCTATGTTTGGGGGGGACTT 0.465 12 420 --- --- --- --- VGLL3 389136 broad.mit.edu 37 3 87018182 87018183 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:87018182_87018183insC ENST00000398399.2 - 3 857_858 c.494_495insG c.(493-495)ggtfs p.G165fs VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 165 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) CAGGATGAACTCCCCCCAAACA 0.579 7 464 --- --- --- --- MYLK 4638 broad.mit.edu 37 3 123368043 123368044 + Splice_Site INS - - G rs138786404 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:123368043_123368044insG ENST00000360772.3 - 26 4667 c.e26-2 MYLK_ENST00000475616.1_Splice_Site|MYLK_ENST00000354792.5_Splice_Site|MYLK_ENST00000360304.3_Splice_Site|MYLK_ENST00000359169.1_Splice_Site|MYLK_ENST00000346322.5_Splice_Site Q15746 MYLK_HUMAN myosin light chain kinase aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CCTTCGGCTCTGGGGGGGGCAC 0.624 21 208 --- --- --- --- MUC13 56667 broad.mit.edu 37 3 124646628 124646629 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:124646628_124646629insG ENST00000311075.3 - 2 299_300 c.261_262insC c.(259-264)cctaatfs p.N88fs NM_033049.3 NP_149038.3 Q9H3R2 MUC13_HUMAN mucin 13, cell surface associated 88 Thr-rich. extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1) 18 GTACTAATTATGGGGGGAGCAG 0.441 9 1307 --- --- --- --- GRK7 131890 broad.mit.edu 37 3 141535707 141535708 + Frame_Shift_Ins INS - - G rs149574289 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:141535707_141535708insG ENST00000264952.2 + 4 1614_1615 c.1477_1478insG c.(1477-1479)gggfs p.G493fs NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 493 AGC-kinase C-terminal. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity p.R493L(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CTCTGAGGTTCGGGGGGTGGAA 0.460 20 1163 --- --- --- --- MME 4311 broad.mit.edu 37 3 154884713 154884714 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:154884713_154884714insC ENST00000460393.1 + 18 1803_1804 c.1683_1684insC c.(1681-1686)caccccfs p.HP561fs MME_ENST00000492661.1_Frame_Shift_Ins_p.HP561fs|MME-AS1_ENST00000484721.1_RNA|MME_ENST00000493237.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000462745.1_Frame_Shift_Ins_p.HP561fs|MME_ENST00000360490.2_Frame_Shift_Ins_p.HP561fs NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 561 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding p.Q561H(1) central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GCATTCTGCAGCCCCCCTTCTT 0.446 8 435 --- --- --- --- SAMD7 344658 broad.mit.edu 37 3 169646267 169646268 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:169646267_169646268insG ENST00000428432.2 + 7 1331_1332 c.942_943insG c.(940-945)atggggfs p.MG314fs SAMD7_ENST00000335556.3_Frame_Shift_Ins_p.MG314fs NM_182610.2 NP_872416.1 Q7Z3H4 SAMD7_HUMAN sterile alpha motif domain containing 7 314 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) TGGTTACAATTGGGGGGAATCT 0.381 8 586 --- --- --- --- FNDC3B 64778 broad.mit.edu 37 3 172096209 172096210 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:172096209_172096210insC ENST00000336824.4 + 24 3257_3258 c.3158_3159insC c.(3157-3159)gccfs p.A1053fs FNDC3B_ENST00000415807.2_Frame_Shift_Ins_p.A1053fs|FNDC3B_ENST00000416957.1_Frame_Shift_Ins_p.A1053fs NM_001135095.1 NP_001128567.1 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 1053 endoplasmic reticulum|integral to membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 69 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) ACCAAAAGTGTCCCCCCCACCA 0.470 7 186 --- --- --- --- KIAA0226 9711 broad.mit.edu 37 3 197427914 197427915 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr3:197427914_197427915insG ENST00000273582.5 - 7 1195_1196 c.650_651insC c.(649-651)cgtfs p.R217fs KIAA0226_ENST00000296343.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000389665.5_Frame_Shift_Ins_p.R277fs|KIAA0226_ENST00000449205.1_Frame_Shift_Ins_p.R277fs NM_001145642.2 NP_001139114.1 Q92622 RUBIC_HUMAN KIAA0226 277 Ser-rich. autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis early endosome|late endosome|lysosome protein binding NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(93;0.0446) AGACTGAAACTGGGGGGGCTTG 0.554 12 156 --- --- --- --- FAM193A 8603 broad.mit.edu 37 4 2661592 2661593 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:2661592_2661593insC ENST00000324666.5 + 8 1034_1035 c.683_684insC c.(682-684)gccfs p.A228fs FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs NM_001256666.1 NP_001243595.1 P78312 F193A_HUMAN family with sequence similarity 193, member A 228 NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 40 GGTATCATGGACCCCCCCGTCA 0.525 14 535 --- --- --- --- GPR125 166647 broad.mit.edu 37 4 22390062 22390063 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:22390062_22390063insG ENST00000334304.5 - 19 3500_3501 c.3231_3232insC c.(3229-3234)ccactcfs p.L1078fs GPR125_ENST00000282943.5_5'UTR NM_145290.2 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 1078 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) CCATTAGAGTTGGGGGGCTGGA 0.500 9 235 --- --- --- --- TBC1D1 23216 broad.mit.edu 37 4 38091622 38091623 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:38091622_38091623insC ENST00000261439.4 + 13 2475_2476 c.2120_2121insC c.(2119-2121)gccfs p.A707fs TBC1D1_ENST00000508802.1_Frame_Shift_Ins_p.A801fs NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 707 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GGGCCCTTTGGCCCCCCACCAG 0.495 7 268 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57181627 57181628 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:57181627_57181628insC ENST00000504228.1 + 6 2064_2065 c.1959_1960insC c.(1957-1962)aacccgfs p.NP653fs KIAA1211_ENST00000264229.6_Frame_Shift_Ins_p.NP653fs|KIAA1211_ENST00000541073.1_Frame_Shift_Ins_p.NP646fs Q6ZU35 K1211_HUMAN KIAA1211 653 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) GGAAGGCTAAGCCCCGCCAGGA 0.683 9 76 --- --- --- --- UNC5C 8633 broad.mit.edu 37 4 96091356 96091357 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:96091356_96091357insG ENST00000453304.1 - 15 2926_2927 c.2578_2579insC c.(2578-2580)gacfs p.D860fs NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 860 Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) GCCTCTCGTCTGGGGGGCATCC 0.599 7 454 --- --- --- --- TET2 54790 broad.mit.edu 37 4 106155956 106155957 + Frame_Shift_Ins INS - - A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:106155956_106155957insA ENST00000540549.1 + 3 1717_1718 c.857_858insA c.(856-858)caafs p.Q286fs TET2_ENST00000413648.2_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000305737.2_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000380013.4_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000513237.1_Frame_Shift_Ins_p.Q307fs|TET2_ENST00000545826.1_Frame_Shift_Ins_p.Q286fs|TET2_ENST00000394764.1_Frame_Shift_Ins_p.Q286fs Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 286 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) GAGCTGCCTCCAAAGCCAGCTG 0.490 """Mis N, F""" MDS 9 221 --- --- --- --- ANK2 287 broad.mit.edu 37 4 114280134 114280135 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:114280134_114280135insG ENST00000357077.4 + 38 10413_10414 c.10360_10361insG c.(10360-10362)gggfs p.G3454fs ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Frame_Shift_Ins_p.G3421fs|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 3421 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding p.T3457fs*8(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) ATCTTCCTGCAGGGGGGGCACG 0.455 23 224 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134071648 134071649 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:134071648_134071649insC ENST00000264360.4 + 1 1179_1180 c.353_354insC c.(352-354)accfs p.T118fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 118 Cadherin 1. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.S121fs*13(1) NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) ATTAATGACAACCCCCCCTCTT 0.604 7 297 --- --- --- --- PCDH10 57575 broad.mit.edu 37 4 134071967 134071968 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:134071967_134071968insC ENST00000264360.4 + 1 1498_1499 c.672_673insC c.(670-675)ctccccfs p.LP224fs NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 224 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) gagcaggCCTGCCCCCCCAGCA 0.668 12 123 --- --- --- --- GAB1 2549 broad.mit.edu 37 4 144361498 144361499 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:144361498_144361499insC ENST00000262995.4 + 6 1975_1976 c.1548_1549insC c.(1546-1551)ccccccfs p.PP516fs GAB1_ENST00000262994.4_Frame_Shift_Ins_p.PP516fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.PP413fs NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 516 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) ACTGTGAACCACCCCCCGTGGA 0.515 8 209 --- --- --- --- GPM6A 2823 broad.mit.edu 37 4 176622884 176622885 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:176622884_176622885insC ENST00000280187.7 - 3 116_117 c.71_72insG c.(70-72)gatfs p.D24fs GPM6A_ENST00000506894.1_Frame_Shift_Ins_p.D13fs|GPM6A_ENST00000393658.2_Frame_Shift_Ins_p.D24fs|GPM6A_ENST00000515090.1_Frame_Shift_Ins_p.D17fs NM_005277.4 NP_005268.1 P51674 GPM6A_HUMAN glycoprotein M6A 24 cell surface|integral to membrane NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388) CATAGGGAATGCCCCCCAGGCA 0.431 8 462 --- --- --- --- TRIML2 205860 broad.mit.edu 37 4 189012770 189012771 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:189012770_189012771insG ENST00000512729.1 - 7 1294_1295 c.920_921insC c.(919-921)cctfs p.P307fs TRIML2_ENST00000326754.3_Frame_Shift_Ins_p.P332fs NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 307 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GCCTTTTCAGAGGGGGGAAGAC 0.559 7 666 --- --- --- --- CDH10 1008 broad.mit.edu 37 5 24487951 24487952 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:24487951_24487952insG ENST00000264463.4 - 12 2694_2695 c.2187_2188insC c.(2185-2190)ccacgafs p.R730fs CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 730 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) AGTGAGTCGTAGGGGGGTGCGG 0.460 HNSCC(23;0.051) 7 393 --- --- --- --- NIPBL 25836 broad.mit.edu 37 5 36986119 36986120 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:36986119_36986120insG ENST00000282516.8 + 10 3336_3337 c.2837_2838insG c.(2836-2838)tggfs p.W946fs NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.W946fs|NIPBL_ENST00000504430.1_3'UTR NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 946 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) AGTTATTTGTTGGGGGGCAGGT 0.391 7 367 --- --- --- --- FYB 2533 broad.mit.edu 37 5 39202090 39202091 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:39202090_39202091insC ENST00000351578.6 - 2 1162_1163 c.972_973insG c.(970-975)ggcatgfs p.M325fs FYB_ENST00000540520.1_Frame_Shift_Ins_p.M335fs|FYB_ENST00000515010.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000505428.1_Frame_Shift_Ins_p.M325fs|FYB_ENST00000512982.1_Frame_Shift_Ins_p.M325fs NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 325 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding p.P325A(3)|p.P335A(1) endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCCCCATGGCCCCCCCACTG 0.540 15 212 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71495076 71495077 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:71495076_71495077insC ENST00000296755.7 + 5 6192_6193 c.5894_5895insC c.(5893-5895)accfs p.T1965fs NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1965 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) AAGACCACCAGCCCCCCCGAAG 0.485 22 557 --- --- --- --- ENC1 8507 broad.mit.edu 37 5 73931125 73931126 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:73931125_73931126insC ENST00000302351.4 - 2 2315_2316 c.1185_1186insG c.(1183-1188)ggacacfs p.H396fs ENC1_ENST00000537006.1_Frame_Shift_Ins_p.H396fs|ENC1_ENST00000510316.1_Frame_Shift_Ins_p.H323fs NM_003633.3 NP_003624.1 O14682 ENC1_HUMAN ectodermal-neural cortex 1 (with BTB domain) 396 nervous system development cytoplasm|cytoskeleton|nuclear matrix actin binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 20 all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;1.45e-59) GCGGCCGTGTGCCCCCCAACCA 0.599 7 200 --- --- --- --- CTD-2503O16.4 0 broad.mit.edu 37 5 74226290 74226291 + RNA INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:74226290_74226291insC ENST00000505200.1 - 0 335 TGGGAATAATTCCCCCCATTCT 0.381 8 569 --- --- --- --- GCNT4 51301 broad.mit.edu 37 5 74324982 74324983 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:74324982_74324983insG ENST00000322348.4 - 1 1741_1742 c.880_881insC c.(880-882)taafs p.*294fs NM_016591.2 NP_057675.1 Q9P109 GCNT4_HUMAN glucosaminyl (N-acetyl) transferase 4, core 2 294 protein O-linked glycosylation Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity p.H294fs*2(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2) 19 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798) OV - Ovarian serous cystadenocarcinoma(47;8.44e-57) CTGAATGTTATGGGGGGGTGCT 0.366 14 239 --- --- --- --- PCSK1 5122 broad.mit.edu 37 5 95746639 95746640 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:95746639_95746640insC ENST00000311106.3 - 8 1170_1171 c.933_934insG c.(931-936)gggtcafs p.S312fs PCSK1_ENST00000508626.1_Frame_Shift_Ins_p.S265fs|PCSK1_ENST00000513085.1_Intron|CTD-2337A12.1_ENST00000502645.2_RNA NM_000439.4|NM_001177876.1 NP_000430.3|NP_001171347.1 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 312 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity p.R312C(1) NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 36 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TCTCCCTGACGCCCCCCGTTTC 0.530 7 430 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127610310 127610311 + Frame_Shift_Ins INS - - C rs151053868 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:127610310_127610311insC ENST00000508053.1 - 66 8633_8634 c.7659_7660insG c.(7657-7662)ggttacfs p.Y2554fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs P35556 FBN2_HUMAN fibrillin 2 2554 EGF-like 43; calcium-binding. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TTACAGGTAAACCCCCCCAGGG 0.421 18 329 --- --- --- --- FBN2 2201 broad.mit.edu 37 5 127648336 127648337 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:127648336_127648337insG ENST00000508053.1 - 43 5842_5843 c.4868_4869insC c.(4867-4869)cgtfs p.R1623fs FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs P35556 FBN2_HUMAN fibrillin 2 1623 TB 6. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent p.P1623P(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) TGCTATTGACAGGGGGGCATGT 0.505 12 1178 --- --- --- --- FNIP1 96459 broad.mit.edu 37 5 131013435 131013435 + Frame_Shift_Del DEL C C - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:131013435delC ENST00000307968.7 - 12 1395 c.1396delG c.(1396-1398)cafs p.A466fs FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000511848.1_Frame_Shift_Del_p.A494fs|FNIP1_ENST00000307954.8_Frame_Shift_Del_p.A449fs|FNIP1_ENST00000510461.1_Frame_Shift_Del_p.A494fs NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TGAGTCTTTGCCAACATGTCC 0.383 100 204 --- --- --- --- SLC22A5 6584 broad.mit.edu 37 5 131722730 131722731 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:131722730_131722731insC ENST00000245407.3 + 5 1059_1060 c.838_839insC c.(838-840)cccfs p.P280fs SLC22A5_ENST00000435065.2_Frame_Shift_Ins_p.P304fs NM_003060.3 NP_003051.1 O76082 S22A5_HUMAN solute carrier family 22 (organic cation/carnitine transporter), member 5 280 positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport apical plasma membrane|brush border membrane|integral to membrane ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1) 8 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) L-Carnitine(DB00583) CATCCCTGAGTCCCCCCGATGG 0.545 OREG0016767 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 924 --- --- --- --- TCF7 6932 broad.mit.edu 37 5 133473764 133473765 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:133473764_133473765insC ENST00000395029.1 + 4 651_652 c.456_457insC c.(454-459)caccccfs p.HP152fs TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs P36402 TCF7_HUMAN transcription factor 7 (T-cell specific, HMG-box) 152 cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding|transcription regulatory region DNA binding kidney(2)|large_intestine(7)|lung(2)|skin(1) 12 Breast(839;0.058) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) AGGCCAATCAGCCCCCCCACGG 0.574 9 187 --- --- --- --- SLC25A48 153328 broad.mit.edu 37 5 135207263 135207264 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:135207263_135207264insG ENST00000274513.5 + 5 707_708 c.535_536insG c.(535-537)gggfs p.G179fs SLC25A48_ENST00000420621.1_Frame_Shift_Ins_p.G179fs|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Frame_Shift_Ins_p.G125fs|SLC25A48_ENST00000412661.2_Intron Q6ZT89 S2548_HUMAN solute carrier family 25, member 48 179 transmembrane transport integral to membrane|mitochondrial inner membrane binding NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 GGGGCTATACCGGGGGGCCAGT 0.604 7 371 --- --- --- --- PCDHGC4 56098 broad.mit.edu 37 5 140865128 140865129 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:140865128_140865129insC ENST00000306593.1 + 1 388_389 c.388_389insC c.(388-390)cccfs p.P130fs PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATGATCACGCCCCCCGTTTT 0.574 16 400 --- --- --- --- PCDHGC5 56097 broad.mit.edu 37 5 140870530 140870531 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:140870530_140870531insC ENST00000252087.1 + 1 1723_1724 c.1723_1724insC c.(1723-1725)cccfs p.P575fs PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 575 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAACACTCAGCCCCCCAGCGT 0.589 7 256 --- --- --- --- ARAP3 64411 broad.mit.edu 37 5 141049341 141049342 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:141049341_141049342insC ENST00000239440.4 - 16 2351_2352 c.2286_2287insG c.(2284-2289)ggggatfs p.D763fs ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 763 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TGCTGGATCCTCCCCCCAGCGA 0.579 17 801 --- --- --- --- ARHGAP26 23092 broad.mit.edu 37 5 142586762 142586763 + Splice_Site INS - - C rs144777273 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:142586762_142586763insC ENST00000378004.3 + 21 2343_2344 c.e21-1 ARHGAP26_ENST00000274498.4_Splice_Site|ARHGAP26_ENST00000486650.1_Intron NM_001135608.1 NP_001129080.1 Q9UNA1 RHG26_HUMAN Rho GTPase activating protein 26 actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction cytoskeleton|cytosol|focal adhesion cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding p.?(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1) 25 all_hematologic(541;0.0416) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGTCTTGCAGCCCCCCGAATC 0.579 12 514 --- --- --- --- LARS 51520 broad.mit.edu 37 5 145523013 145523014 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:145523013_145523014insC ENST00000394434.2 - 19 2004_2005 c.1838_1839insG c.(1837-1839)gaafs p.E613fs LARS_ENST00000274562.9_Frame_Shift_Ins_p.E586fs|LARS_ENST00000510191.1_Frame_Shift_Ins_p.E559fs|LARS_ENST00000545646.1_Frame_Shift_Ins_p.E567fs NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 613 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CATGCAAGTTACCCCCCTGCAA 0.450 15 1012 --- --- --- --- SLC6A7 6534 broad.mit.edu 37 5 149581960 149581961 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:149581960_149581961insG ENST00000230671.2 + 7 1280_1281 c.909_910insG c.(907-912)ttggggfs p.LG303fs SLC6A7_ENST00000524041.1_Frame_Shift_Ins_p.LG303fs NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 303 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GTGTGGGCTTCGGGGGGCTCCT 0.569 7 423 --- --- --- --- FNDC9 408263 broad.mit.edu 37 5 156769909 156769910 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:156769909_156769910insC ENST00000312349.4 - 2 822_823 c.635_636insG c.(634-636)gggfs p.G212fs CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000442283.2_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 212 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 GTGGGTCACCACCCCCCCTCTG 0.584 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 192 --- --- --- --- TRIM41 90933 broad.mit.edu 37 5 180651435 180651436 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:180651435_180651436insG ENST00000315073.5 + 1 1146_1147 c.436_437insG c.(436-438)gggfs p.G146fs TRIM41_ENST00000351937.5_Frame_Shift_Ins_p.G146fs NM_033549.4 NP_291027.3 Q8WV44 TRI41_HUMAN tripartite motif containing 41 146 Glu-rich. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) ggaggacctgaggggggaggat 0.629 7 185 --- --- --- --- EXOC2 55770 broad.mit.edu 37 6 637793 637794 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:637793_637794insG ENST00000230449.4 - 2 160_161 c.25_26insC c.(25-27)tgtfs p.C9fs EXOC2_ENST00000448181.3_Intron NM_018303.4 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 9 IPT/TIG. exocytosis|protein transport p.Q6fs*28(1) breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) GCCGGTCACAAGGGGGGGTTGT 0.485 8 309 --- --- --- --- GCNT2 2651 broad.mit.edu 37 6 10557409 10557410 + Frame_Shift_Ins INS - - C rs55808116 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:10557409_10557410insC ENST00000316170.3 + 1 1170_1171 c.753_754insC c.(751-756)ccccccfs p.PP251fs GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000410107.1_Intron NM_001491.2 NP_001482.1 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 253 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGAAACCGCCTCCCCCCCATAA 0.485 10 307 --- --- --- --- PHACTR1 221692 broad.mit.edu 37 6 13206134 13206135 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:13206134_13206135insG ENST00000379350.1 + 7 881_882 c.752_753insG c.(751-753)gggfs p.G251fs PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000379345.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 251 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) TGTATGCCCGTGGGGGGGCCAG 0.599 13 179 --- --- --- --- DCDC2 51473 broad.mit.edu 37 6 24205282 24205283 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:24205282_24205283insC ENST00000378454.3 - 8 1271_1272 c.970_971insG c.(970-972)agcfs p.S324fs DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 324 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GACTTCTGCTGCCCCCCGTGTT 0.411 17 1303 --- --- --- --- GABBR1 2550 broad.mit.edu 37 6 29577143 29577144 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:29577143_29577144insG ENST00000377034.4 - 15 2056_2057 c.1721_1722insC c.(1720-1722)cgcfs p.R574fs GABBR1_ENST00000377016.4_Frame_Shift_Ins_p.R512fs|GABBR1_ENST00000355973.3_Frame_Shift_Ins_p.R457fs|GABBR1_ENST00000376977.3_Intron|GABBR1_ENST00000377012.4_Frame_Shift_Ins_p.R457fs NM_001470.2 NP_001461.1 Q9UBS5 GABR1_HUMAN gamma-aminobutyric acid (GABA) B receptor, 1 574 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) TCTGGTCAGCTGGGGGGGACCC 0.540 8 222 --- --- --- --- PPP1R10 5514 broad.mit.edu 37 6 30569333 30569334 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:30569333_30569334insG ENST00000376511.2 - 20 3367_3368 c.2815_2816insC c.(2815-2817)gccfs p.A939fs NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 939 protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 TCCCTAGGGCAGGGGGGGCCCA 0.569 10 125 --- --- --- --- BAG6 7917 broad.mit.edu 37 6 31608570 31608571 + Splice_Site INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:31608570_31608571insG ENST00000404765.2 - 21 3221_3222 c.2934_splice c.e21+1 p.A978_splice BAG6_ENST00000375976.4_Splice_Site_p.A942_splice|BAG6_ENST00000362049.6_Splice_Site_p.A942_splice|BAG6_ENST00000375964.6_Splice_Site_p.A948_splice|BAG6_ENST00000211379.5_Splice_Site_p.A942_splice|BAG6_ENST00000439687.2_Splice_Site_p.A816_splice P46379 BAG6_HUMAN BCL2-associated athanogene 6 948 apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process BAT3 complex|nucleus polyubiquitin binding|proteasome binding|ribosome binding breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2) 36 GTCCCTTACCTGGGGGGGATCA 0.535 7 191 --- --- --- --- C6orf25 80739 broad.mit.edu 37 6 31692528 31692529 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:31692528_31692529insC ENST00000375809.3 + 5 558_559 c.547_548insC c.(547-549)cccfs p.P183fs C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000480039.1_Intron NM_025260.3|NM_138272.2|NM_138277.2 NP_079536.2|NP_612116.1|NP_612121.1 O95866 G6B_HUMAN chromosome 6 open reading frame 25 0 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 TTCAGCTCTGTCCCCCCCACAT 0.579 10 356 --- --- --- --- FKBPL 63943 broad.mit.edu 37 6 32097085 32097086 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:32097085_32097086insC ENST00000375156.3 - 2 742_743 c.472_473insG c.(472-474)gctfs p.A158fs NM_022110.3 NP_071393.2 Q9UIM3 FKBPL_HUMAN FK506 binding protein like 158 response to radiation membrane|nucleus FK506 binding|peptidyl-prolyl cis-trans isomerase activity CTCTATGAGCTCCCCCCAAGTT 0.589 11 349 --- --- --- --- HLA-DRB6 3128 broad.mit.edu 37 6 32522756 32522756 + RNA DEL A A - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:32522756delA ENST00000411500.1 - 0 458 NR_001298.1 GGACTAGGAGAAAAAAAGGTA 0.517 10 25 --- --- --- --- BRD2 6046 broad.mit.edu 37 6 32948228 32948229 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:32948228_32948229insC ENST00000395289.2 + 13 3962_3963 c.2361_2362insC c.(2359-2364)aaccccfs p.NP787fs BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs P25440 BRD2_HUMAN bromodomain containing 2 752 ET.|Poly-Ser.|Ser-rich. spermatogenesis nucleus protein serine/threonine kinase activity central_nervous_system(3)|stomach(2) 5 CTACTAAAAAGCCCCCCAAGAA 0.426 9 240 --- --- --- --- KIAA1919 91749 broad.mit.edu 37 6 111587105 111587106 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:111587105_111587106insG ENST00000368847.4 + 4 693_694 c.340_341insG c.(340-342)gggfs p.G114fs NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 114 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) CTTGGCTATTTGGGGGGACAAA 0.416 7 312 --- --- --- --- KIAA0408 9729 broad.mit.edu 37 6 127767595 127767596 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:127767595_127767596insC ENST00000483725.3 - 5 2204_2205 c.1868_1869insG c.(1867-1869)gcafs p.A623fs SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR NM_014702.4 NP_055517.3 Q6ZU52 K0408_HUMAN KIAA0408 623 protein binding endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1) 28 GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13) TCACTTCCTGTCCCCCCCACAC 0.401 22 456 --- --- --- --- LPAL2 80350 broad.mit.edu 37 6 160931971 160931972 + RNA INS - - A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr6:160931971_160931972insA ENST00000335388.5 - 0 166 NR_028092.1 large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) AATTATTACACAAAAAAAACTA 0.322 7 175 --- --- --- --- PMS2CL 441194 broad.mit.edu 37 7 6759412 6759413 + RNA INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:6759412_6759413insG ENST00000486256.1 + 0 346 NR_002217.1 GTGTGCCTCCCGGGGGGGAGGT 0.569 7 182 --- --- --- --- NUPL2 11097 broad.mit.edu 37 7 23224772 23224773 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:23224772_23224773insG ENST00000258742.5 + 2 464_465 c.205_206insG c.(205-207)gggfs p.G69fs NUPL2_ENST00000487595.1_3'UTR|NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|AC005082.1_ENST00000366347.4_Intron NM_007342.2 NP_031368.1 O15504 NUPL2_HUMAN nucleoporin like 2 69 carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nuclear pore nuclear export signal receptor activity|nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 ATCCACACCATGGGGGGGCAGC 0.406 13 200 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24870394 24870395 + Frame_Shift_Ins INS - - A rs35793413 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:24870394_24870395insA ENST00000313367.2 - 16 2327_2328 c.1876_1877insT c.(1876-1878)agafs p.R626fs OSBPL3_ENST00000396429.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000431825.2_Frame_Shift_Ins_p.R559fs|OSBPL3_ENST00000396431.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000352860.1_Frame_Shift_Ins_p.R595fs|OSBPL3_ENST00000353930.1_Frame_Shift_Ins_p.R590fs|OSBPL3_ENST00000409069.1_Frame_Shift_Ins_p.R559fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 626 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 TACCTGTTCTGAAAAAAACTGG 0.421 13 1314 --- --- --- --- FKBP9 11328 broad.mit.edu 37 7 33014803 33014804 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:33014803_33014804insC ENST00000242209.4 + 3 546_547 c.377_378insC c.(376-378)accfs p.T126fs FKBP9_ENST00000538443.1_5'UTR|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538336.1_Frame_Shift_Ins_p.T179fs NM_007270.3 NP_009201.2 O95302 FKBP9_HUMAN FK506 binding protein 9, 63 kDa 126 PPIase FKBP-type 1. protein folding endoplasmic reticulum|membrane calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1) 39 GBM - Glioblastoma multiforme(11;0.0156) GCTGGTGTGATCCCCCCCAATT 0.446 12 382 --- --- --- --- C7orf57 136288 broad.mit.edu 37 7 48089565 48089566 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:48089565_48089566insC ENST00000348904.3 + 6 808_809 c.596_597insC c.(595-597)tccfs p.S199fs C7orf57_ENST00000420324.1_Frame_Shift_Ins_p.S244fs|C7orf57_ENST00000435376.1_Frame_Shift_Ins_p.S77fs|C7orf57_ENST00000539619.1_Frame_Shift_Ins_p.S199fs|C7orf57_ENST00000430738.1_Frame_Shift_Ins_p.S244fs NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 199 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 AGACTCTCCTTCCCCCCCGTGT 0.550 7 229 --- --- --- --- RP11-368M16.3 0 broad.mit.edu 37 7 57698565 57698566 + RNA INS - - TGGG TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:57698565_57698566insTGGG ENST00000605139.1 - 0 416 CACAGGAGACCTGGGCTGCAGG 0.584 3 3 --- --- --- --- ZNF107 51427 broad.mit.edu 37 7 64169016 64169017 + In_Frame_Ins INS - - GAA TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:64169016_64169017insGAA ENST00000395391.1 + 4 3709_3710 c.2334_2335insGAA c.(2332-2337)tgagta>tgGAAagta p.778_778*>WK ZNF107_ENST00000344930.3_In_Frame_Ins_p.778_778*>WK|ZNF107_ENST00000423627.1_In_Frame_Ins_p.778_778*>WK Q9UII5 ZN107_HUMAN zinc finger protein 107 778 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) CCTACAAATGTGAGTATGGCAA 0.351 10 26 --- --- --- --- RP11-3P22.2 0 broad.mit.edu 37 7 68719820 68719831 + RNA DEL AAGGAAGAGAGA AAGGAAGAGAGA - rs73143711 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:68719820_68719831delAAGGAAGAGAGA ENST00000435148.1 - 0 590 ggaagagaggaaggaagagagaaaggaagaga 0.448 2 4 --- --- --- --- DTX2 113878 broad.mit.edu 37 7 76112242 76112243 + Frame_Shift_Ins INS - - C rs143934697 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:76112242_76112243insC ENST00000324432.5 + 5 1196_1197 c.686_687insC c.(685-687)cccfs p.P229fs DTX2_ENST00000413936.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446820.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000446600.1_Frame_Shift_Ins_p.P138fs|DTX2_ENST00000430490.2_Frame_Shift_Ins_p.P229fs|DTX2_ENST00000307569.8_Frame_Shift_Ins_p.P229fs NM_020892.2 NP_065943.2 Q86UW9 DTX2_HUMAN deltex homolog 2 (Drosophila) 229 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2) 27 GTCCCCCAGCACCCCCCACACA 0.649 7 250 --- --- --- --- TRRAP 8295 broad.mit.edu 37 7 98592294 98592295 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:98592294_98592295insC ENST00000359863.4 + 66 10299_10300 c.10090_10091insC c.(10090-10092)cccfs p.P3364fs TRRAP_ENST00000446306.3_Frame_Shift_Ins_p.P3353fs|TRRAP_ENST00000355540.3_Frame_Shift_Ins_p.P3335fs NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3364 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 NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGCTAAAATCACCCCCCACACT 0.540 8 655 --- --- --- --- SPDYE3 441272 broad.mit.edu 37 7 99912173 99912174 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:99912173_99912174insC ENST00000332397.6 + 6 1185_1186 c.1001_1002insC c.(1000-1002)accfs p.T334fs SPDYE3_ENST00000437326.2_5'UTR NM_001004351.4 NP_001004351.3 A6NKU9 SPDE3_HUMAN speedy/RINGO cell cycle regulator family member E3 334 endometrium(10)|kidney(1)|lung(8)|urinary_tract(1) 20 GTAGATCCCAGCCCCCCGCGTA 0.569 13 413 --- --- --- --- ZCWPW1 55063 broad.mit.edu 37 7 100000150 100000151 + Frame_Shift_Ins INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:100000150_100000151insT ENST00000398027.2 - 16 1706_1707 c.1459_1460insA c.(1459-1461)caafs p.Q487fs ZCWPW1_ENST00000360951.4_Intron|ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs NM_017984.4 NP_060454.3 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 487 zinc ion binding breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1) 16 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TCTTGGCTTGGTTTTTTGGGTC 0.480 10 3350 --- --- --- --- PCOLCE 5118 broad.mit.edu 37 7 100205413 100205414 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:100205413_100205414insC ENST00000223061.5 + 8 1446_1447 c.1166_1167insC c.(1165-1167)tccfs p.S389fs NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 389 NTR. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity p.M392fs*>59(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) TGCAAGCAGTGCCCCCCCATGA 0.510 8 173 --- --- --- --- AP1S1 1174 broad.mit.edu 37 7 100802404 100802405 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:100802404_100802405insG ENST00000337619.5 + 4 474_475 c.356_357insG c.(355-357)aggfs p.R119fs NM_001283.3 NP_001274.1 P61966 AP1S1_HUMAN adaptor-related protein complex 1, sigma 1 subunit 119 intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane protein binding|protein transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2) 8 Lung NSC(181;0.168)|all_lung(186;0.215) GAGTTTTTGATGGGGGGGGATG 0.564 13 136 --- --- --- --- GRM8 2918 broad.mit.edu 37 7 126173277 126173278 + Frame_Shift_Ins INS - - G rs77499554 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:126173277_126173278insG ENST00000339582.2 - 9 2966_2967 c.2158_2159insC c.(2158-2160)catfs p.H720fs GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Frame_Shift_Ins_p.H720fs|GRM8_ENST00000358373.3_Frame_Shift_Ins_p.H720fs O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 720 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) AATGATGATGTGGGGGGGATCC 0.505 HNSCC(24;0.065) 8 130 --- --- --- --- CCDC136 64753 broad.mit.edu 37 7 128457829 128457830 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:128457829_128457830insC ENST00000297788.4 + 17 3748_3749 c.3381_3382insC c.(3379-3384)aaccccfs p.NP1127fs CCDC136_ENST00000471729.1_Intron|CCDC136_ENST00000487361.1_Frame_Shift_Ins_p.NP488fs|CCDC136_ENST00000464832.1_Frame_Shift_Ins_p.NP419fs|CCDC136_ENST00000378685.4_Frame_Shift_Ins_p.NP407fs NM_022742.4 NP_073579.4 Q96JN2 CC136_HUMAN coiled-coil domain containing 136 1127 integral to membrane protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3) 24 CTACCCCCAATCCCCCCATCTT 0.520 8 1688 --- --- --- --- TRPV5 56302 broad.mit.edu 37 7 142612493 142612494 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr7:142612493_142612494insC ENST00000265310.1 - 10 1617_1618 c.1269_1270insG c.(1267-1272)ggcattfs p.I424fs NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 424 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) ACATGGAATGGCCCCCCAAGAA 0.505 11 755 --- --- --- --- MYOM2 9172 broad.mit.edu 37 8 2088682 2088683 + Frame_Shift_Ins INS - - G rs34620424 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:2088682_2088683insG ENST00000262113.4 + 33 3978_3979 c.3837_3838insG c.(3835-3840)atggggfs p.MG1279fs MYOM2_ENST00000520298.1_3'UTR|MYOM2_ENST00000523438.1_Frame_Shift_Ins_p.MG704fs NM_003970.2 NP_003961.2 P54296 MYOM2_HUMAN myomesin 2 1279 muscle contraction myosin filament structural constituent of muscle autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3) 104 Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217) BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179) ATATGAGAATCGGGGGGAGTGA 0.446 7 418 --- --- --- --- SLC18A1 6570 broad.mit.edu 37 8 20004787 20004788 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:20004787_20004788insG ENST00000440926.1 - 16 1915_1916 c.1445_1446insC c.(1444-1446)cgcfs p.R482fs SLC18A1_ENST00000437980.1_Intron|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000519026.1_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000265808.7_Frame_Shift_Ins_p.R450fs|SLC18A1_ENST00000276373.5_Frame_Shift_Ins_p.R482fs NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 482 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) CTTCCTTTGCCGGGGGGCTCCG 0.500 7 388 --- --- --- --- DMTN 2039 broad.mit.edu 37 8 21926551 21926552 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:21926551_21926552insC ENST00000358242.3 + 5 767_768 c.274_275insC c.(274-276)cccfs p.P92fs DMTN_ENST00000523266.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000517600.1_Intron|DMTN_ENST00000523782.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000265800.5_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000519907.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000443491.2_Frame_Shift_Ins_p.P67fs|DMTN_ENST00000415253.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000432128.1_Frame_Shift_Ins_p.P92fs|DMTN_ENST00000381470.3_Frame_Shift_Ins_p.P92fs dematin actin binding protein CAAATCCACATCCCCCCCACCA 0.604 7 150 --- --- --- --- NUGGC 389643 broad.mit.edu 37 8 27880848 27880849 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:27880848_27880849insG ENST00000413272.2 - 19 2518_2519 c.2376_2377insC c.(2374-2379)ccggacfs p.D793fs NUGGC_ENST00000341513.6_Frame_Shift_Ins_p.D793fs NM_001010906.1 NP_001010906.1 nuclear GTPase, germinal center associated p.P792P(2) AGTGATGTCCCGGGGGGGCCAG 0.525 7 116 --- --- --- --- KCNU1 157855 broad.mit.edu 37 8 36768517 36768518 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:36768517_36768518insC ENST00000399881.3 + 22 2438_2439 c.2401_2402insC c.(2401-2403)cccfs p.P801fs NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 801 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TGCTGTCTTGTCCCCCCCACCC 0.525 8 183 --- --- --- --- POMK 84197 broad.mit.edu 37 8 42958728 42958729 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:42958728_42958729insC ENST00000331373.5 + 4 292_293 c.37_38insC c.(37-39)cccfs p.P13fs NM_001277971.1|NM_032237.3 NP_001264900.1|NP_115613.1 Q9H5K3 SG196_HUMAN 13 integral to membrane ATP binding|protein kinase activity GAGAGGCCTCGCCCCCCGAGAG 0.540 13 294 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G rs142098461 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:68128855_68128856insG ENST00000262215.3 - 33 5044_5045 c.4655_4656insC c.(4654-4656)cccfs p.P1552fs ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1552 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) GAGATGGAGGTGGGGGGGCAGT 0.421 21 256 --- --- --- --- MROH5 389690 broad.mit.edu 37 8 142477454 142477463 + RNA DEL CCTGGCCCTT CCTGGCCCTT - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:142477454_142477463delCCTGGCCCTT ENST00000430863.1 - 0 2403 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCCTCCGCCCcctggcccttcctggccctt 0.671 3 6 --- --- --- --- LRRC14 9684 broad.mit.edu 37 8 145746499 145746502 + Frame_Shift_Del DEL TGAG TGAG - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:145746499_145746502delTGAG ENST00000292524.1 + 4 1265_1268 c.1119_1122delTGAG c.(1117-1122)acfs p.TE373fs LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 373 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGAGCTGACTGAGTGTCAGCTCG 0.593 4 6 --- --- --- --- FREM1 158326 broad.mit.edu 37 9 14823286 14823287 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:14823286_14823287insG ENST00000380881.4 - 14 3026_3027 c.2211_2212insC c.(2209-2214)cctgcafs p.A738fs FREM1_ENST00000380880.3_Frame_Shift_Ins_p.A737fs|FREM1_ENST00000422223.2_Frame_Shift_Ins_p.A737fs Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 737 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) ATGTCTTGCATGGGGGGCATGT 0.441 10 880 --- --- --- --- TEK 7010 broad.mit.edu 37 9 27185544 27185545 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:27185544_27185545insC ENST00000380036.4 + 9 1686_1687 c.1244_1245insC c.(1243-1245)cccfs p.P415fs TEK_ENST00000519097.1_Frame_Shift_Ins_p.P268fs|TEK_ENST00000406359.4_Frame_Shift_Ins_p.P372fs NM_000459.3 NP_000450.2 Q02763 TIE2_HUMAN TEK tyrosine kinase, endothelial 415 Ig-like C2-type 2. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) CACCGGATCCTCCCCCCTGACT 0.436 11 328 --- --- --- --- UBAP2 55833 broad.mit.edu 37 9 33923478 33923479 + Splice_Site INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:33923478_33923479insG ENST00000379238.1 - 25 2914 c.e25-2 UBAP2_ENST00000360802.1_Splice_Site|UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site Q5T6F2 UBAP2_HUMAN ubiquitin associated protein 2 endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1) 32 LUSC - Lung squamous cell carcinoma(29;0.00575) GBM - Glioblastoma multiforme(74;0.168) TGGAGGGACCTGGGGGGGCAAG 0.594 22 493 --- --- --- --- FAM219A 203259 broad.mit.edu 37 9 34401027 34401028 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:34401027_34401028insG ENST00000445726.1 - 6 798_799 c.492_493insC c.(490-495)ccagtcfs p.V165fs FAM219A_ENST00000379089.1_Frame_Shift_Ins_p.V163fs|FAM219A_ENST00000297620.4_Frame_Shift_Ins_p.V148fs|FAM219A_ENST00000379081.1_Frame_Shift_Ins_p.V136fs|FAM219A_ENST00000379084.1_Splice_Site_p.P147_splice|FAM219A_ENST00000379087.1_Frame_Shift_Ins_p.V146fs|FAM219A_ENST00000379080.1_Frame_Shift_Ins_p.V152fs NM_001184940.1|NM_001184941.1 NP_001171869.1|NP_001171870.1 Q8IW50 CI025_HUMAN family with sequence similarity 219, member A 165 TTCACGGACTTGGGGGGGATGA 0.644 10 102 --- --- --- --- PIGO 84720 broad.mit.edu 37 9 35091522 35091523 + Frame_Shift_Ins INS - - G rs144233446 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:35091522_35091523insG ENST00000378617.3 - 7 2755_2756 c.2361_2362insC c.(2359-2364)cccttcfs p.F788fs PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 788 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity p.T788fs*5(1) endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) GCTTGAGAAGTGGGGGGGCCTG 0.604 12 281 --- --- --- --- TLN1 7094 broad.mit.edu 37 9 35720499 35720500 + Frame_Shift_Ins INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:35720499_35720500insT ENST00000314888.9 - 12 1566_1567 c.1213_1214insA c.(1213-1215)caafs p.Q405fs TLN1_ENST00000540444.1_Frame_Shift_Ins_p.Q405fs NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 405 Interaction with LAYN (By similarity). axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) GTGATCCTTGCTTTTTTTCTGT 0.465 8 860 --- --- --- --- TMC1 117531 broad.mit.edu 37 9 75407208 75407209 + Frame_Shift_Ins INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:75407208_75407209insT ENST00000297784.5 + 17 2046_2047 c.1506_1507insT c.(1504-1509)ccttttfs p.PF502fs TMC1_ENST00000486417.1_3'UTR|TMC1_ENST00000340019.3_Frame_Shift_Ins_p.PF502fs|TMC1_ENST00000396237.3_Frame_Shift_Ins_p.PF502fs NM_138691.2 NP_619636.2 Q8TDI8 TMC1_HUMAN transmembrane channel-like 1 502 sensory perception of sound integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 36 CTGGACCACCCTTTTTTGTTCA 0.441 8 945 --- --- --- --- TRPM6 140803 broad.mit.edu 37 9 77377691 77377692 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:77377691_77377692insC ENST00000451710.3 - 26 4132_4133 c.3895_3896insG c.(3895-3897)actfs p.T1299fs TRPM6_ENST00000361255.3_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000360774.1_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000449912.2_Frame_Shift_Ins_p.T1294fs|TRPM6_ENST00000376864.4_Frame_Shift_Ins_p.T1299fs|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 1299 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CTCAAGAAGTGCCCCCCTCTGC 0.480 8 367 --- --- --- --- DAPK1 1612 broad.mit.edu 37 9 90321801 90321802 + Frame_Shift_Ins INS - - G rs56169226 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:90321801_90321802insG ENST00000469640.2 + 27 4265_4266 c.3890_3891insG c.(3889-3891)aggfs p.R1297fs DAPK1_ENST00000472284.1_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000358077.5_Frame_Shift_Ins_p.R1272fs|DAPK1_ENST00000491893.1_Frame_Shift_Ins_p.R1206fs|DAPK1_ENST00000408954.3_Frame_Shift_Ins_p.R1272fs P53355 DAPK1_HUMAN death-associated protein kinase 1 1272 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.Y1276fs*31(1)|p.Y1275fs*31(1) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 ACCAACACCATGGGGGGGTACA 0.584 Chronic Lymphocytic Leukemia, Familial Clustering of 13 199 --- --- --- --- C9orf152 401546 broad.mit.edu 37 9 112963553 112963554 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:112963553_112963554insG ENST00000400613.4 - 2 1003_1004 c.394_395insC c.(394-396)ggafs p.G132fs C9orf152_ENST00000473442.1_Intron NM_001012993.2 NP_001013011.2 Q5JTZ5 CI152_HUMAN chromosome 9 open reading frame 152 132 NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 ACTGGTGTCCTGGGGGGAGGTT 0.564 14 952 --- --- --- --- NUP214 8021 broad.mit.edu 37 9 134073007 134073008 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:134073007_134073008insC ENST00000359428.5 + 29 4270_4271 c.4126_4127insC c.(4126-4128)cccfs p.P1376fs NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000451030.1_Frame_Shift_Ins_p.P1377fs|NUP214_ENST00000411637.2_Frame_Shift_Ins_p.P1366fs|NUP214_ENST00000483497.2_Frame_Shift_Ins_p.P202fs P35658 NU214_HUMAN nucleoporin 214kDa 1376 11 X 5 AA approximate repeats.|Pro/Ser/Thr-rich. carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) TAATTTTACTGCCCCCCCGGTG 0.545 T """DEK, SET, ABL1""" """AML, T-ALL""" 8 198 --- --- --- --- ZMYND19 116225 broad.mit.edu 37 9 140481541 140481542 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr9:140481541_140481542insC ENST00000298585.2 - 4 462_463 c.236_237insG c.(235-237)ggtfs p.G79fs ZMYND19_ENST00000471957.1_5'UTR NM_138462.2 NP_612471.1 Q96E35 ZMY19_HUMAN zinc finger, MYND-type containing 19 79 Golgi apparatus|plasma membrane zinc ion binding p.V80fs*34(2) endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 13 all_cancers(76;0.106) OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047) CCGGGGCCACGCCCCCCCGGTG 0.634 14 237 --- --- --- --- PHYH 5264 broad.mit.edu 37 10 13325834 13325835 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr10:13325834_13325835insC ENST00000396920.3 - 7 1036_1037 c.632_633insG c.(631-633)ggtfs p.G211fs PHYH_ENST00000263038.4_Frame_Shift_Ins_p.G228fs|PHYH_ENST00000396913.2_Frame_Shift_Ins_p.G128fs O14832 PAHX_HUMAN phytanoyl-CoA 2-hydroxylase 228 fatty acid alpha-oxidation|nervous system development peroxisomal matrix electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2) 25 Ovarian(717;0.0448) Antihemophilic Factor(DB00025)|Vitamin C(DB00126) TTTTGTTAACTCCCCCCTAGAA 0.465 8 631 --- --- --- --- SEC24C 9632 broad.mit.edu 37 10 75525559 75525560 + Splice_Site INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr10:75525559_75525560insC ENST00000339365.2 + 11 1530_1531 c.1366_splice c.e11-1 p.VP456_splice SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000540668.1_Intron NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 456 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) TTCCCACAGTTCCCCCCCAGTA 0.510 21 487 --- --- --- --- BTRC 8945 broad.mit.edu 37 10 103310572 103310573 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr10:103310572_103310573insC ENST00000370187.3 + 14 1891_1892 c.1773_1774insC c.(1771-1776)gaccccfs p.DP591fs BTRC_ENST00000393441.4_Frame_Shift_Ins_p.DP550fs|BTRC_ENST00000408038.2_Frame_Shift_Ins_p.DP555fs|BTRC_ENST00000493877.1_3'UTR NM_033637.3 NP_378663.1 Q9Y297 FBW1A_HUMAN beta-transducin repeat containing E3 ubiquitin protein ligase 591 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway cytosol|nucleus|SCF ubiquitin ligase complex endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1) 27 Colorectal(252;0.234) Epithelial(162;1.05e-08)|all cancers(201;6.59e-07) CCCAAGCTGAACCCCCCCGTTC 0.431 11 312 --- --- --- --- OR52B6 340980 broad.mit.edu 37 11 5602545 5602546 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:5602545_5602546insC ENST00000345043.2 + 1 439_440 c.439_440insC c.(439-441)cccfs p.P147fs HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA NM_001005162.2 NP_001005162.2 Q8NGF0 O52B6_HUMAN olfactory receptor, family 52, subfamily B, member 6 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1) 12 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCCATCTGCTCCCCCCTGCGA 0.510 19 791 --- --- --- --- APIP 51074 broad.mit.edu 37 11 34904908 34904909 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:34904908_34904909insC ENST00000395787.3 - 6 818_819 c.604_605insG c.(604-606)aacfs p.N202fs APIP_ENST00000527830.1_5'UTR|APIP_ENST00000278359.5_Frame_Shift_Ins_p.N219fs NM_015957.2 NP_057041.2 Q96GX9 MTNB_HUMAN APAF1 interacting protein 202 apoptosis|L-methionine salvage cytoplasm identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity kidney(2)|lung(1)|skin(1) 4 all_epithelial(35;0.161) all_hematologic(20;0.107) STAD - Stomach adenocarcinoma(6;0.000425) CTCCCATGTTTCCCCCCACACA 0.450 7 365 --- --- --- --- DDB1 1642 broad.mit.edu 37 11 61094367 61094368 + Splice_Site INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:61094367_61094368insG ENST00000301764.7 - 5 947 c.e5-2 DDB1_ENST00000545930.1_Splice_Site|DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 CTGAGGGTCCTGGGGGGGAAAG 0.515 Nucleotide excision repair (NER) 9 262 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65271172 65271173 + RNA INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:65271172_65271173insG ENST00000534336.1 + 0 5940_5941 NR_002819.2 GGGGCAATCTTGGGGGGGATTC 0.347 7 93 --- --- --- --- RSF1 51773 broad.mit.edu 37 11 77412023 77412024 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:77412023_77412024insG ENST00000308488.6 - 6 2552_2553 c.2250_2251insC c.(2248-2253)ccaagtfs p.S751fs RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S720fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S499fs Q96T23 RSF1_HUMAN remodeling and spacing factor 1 751 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TCTAGAACTTTGGGGGGAGAAT 0.411 14 449 --- --- --- --- NCAM1 4684 broad.mit.edu 37 11 113076860 113076861 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:113076860_113076861insG ENST00000316851.7 + 4 556_557 c.556_557insG c.(556-558)gggfs p.G186fs NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs|NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs NM_001242607.1|NM_181351.4 NP_001229536.1|NP_851996.2 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 196 Ig-like C2-type 2. axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 49 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) AATCCTGGCACGGGGGGAGATC 0.495 9 570 --- --- --- --- VSIG2 23584 broad.mit.edu 37 11 124620739 124620740 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:124620739_124620740insG ENST00000403470.1 - 3 352_353 c.297_298insC c.(295-300)cccagtfs p.S100fs VSIG2_ENST00000326621.5_Frame_Shift_Ins_p.S100fs Q96IQ7 VSIG2_HUMAN V-set and immunoglobulin domain containing 2 100 Ig-like V-type. integral to plasma membrane|membrane fraction central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5) 19 all_hematologic(175;0.215) Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215) ACCCCCACTGTGGGGGGGTTCT 0.540 7 54 --- --- --- --- ADAMTS8 11095 broad.mit.edu 37 11 130275723 130275724 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr11:130275723_130275724insG ENST00000257359.6 - 9 3105_3106 c.2399_2400insC c.(2398-2400)caafs p.Q800fs NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 800 Spacer. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) ATTTGACTTTTGGGGGGAAGAC 0.579 10 780 --- --- --- --- EFCAB4B 84766 broad.mit.edu 37 12 3788266 3788267 + Splice_Site INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:3788266_3788267insG ENST00000440314.2 - 6 814 c.e6-2 EFCAB4B_ENST00000444507.1_Splice_Site|EFCAB4B_ENST00000252322.1_Splice_Site NM_001144958.1 NP_001138430.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) AGAAGTGACCTGGGGGGTGCAG 0.525 7 341 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6091108 6091109 + Frame_Shift_Ins INS - - G rs61750632 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:6091108_6091109insG ENST00000261405.5 - 42 7384_7385 c.7130_7131insC c.(7129-7131)ccafs p.P2377fs NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2377 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding p.P2377P(1) NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCAAACGGTGCGGGGGGCAGGA 0.604 9 464 --- --- --- --- VWF 7450 broad.mit.edu 37 12 6153463 6153464 + Frame_Shift_Ins INS - - G rs137990643 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:6153463_6153464insG ENST00000261405.5 - 18 2689_2690 c.2435_2436insC c.(2434-2436)cggfs p.R812fs NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 812 E1.|TIL 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCACCATGCCCGGGGGGCAGAG 0.594 8 274 --- --- --- --- CD4 920 broad.mit.edu 37 12 6924042 6924043 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:6924042_6924043insG ENST00000011653.4 + 5 749_750 c.491_492insG c.(490-492)cggfs p.R164fs CD4_ENST00000541982.1_Frame_Shift_Ins_p.R109fs|CD4_ENST00000538827.1_3'UTR NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2 NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1 P01730 CD4_HUMAN CD4 molecule 164 Ig-like C2-type 1. cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) AAAAACATACAGGGGGGGAAGA 0.564 24 591 --- --- --- --- ATN1 1822 broad.mit.edu 37 12 7045699 7045700 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:7045699_7045700insC ENST00000356654.4 + 5 1506_1507 c.1269_1270insC c.(1267-1272)caccccfs p.HP423fs ATN1_ENST00000396684.2_Frame_Shift_Ins_p.HP423fs NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 423 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 TCTCCAATCAGCCCCCCAAGTA 0.614 8 458 --- --- --- --- C1S 716 broad.mit.edu 37 12 7171652 7171653 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:7171652_7171653insC ENST00000406697.1 + 8 1101_1102 c.473_474insC c.(472-474)tccfs p.S158fs C1S_ENST00000402681.3_5'UTR|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs P09871 C1S_HUMAN complement component 1, s subcomponent 158 EGF-like; calcium-binding. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) TTCTGCTCCTGCCCCCCGGAAT 0.455 12 620 --- --- --- --- PRB1 5542 broad.mit.edu 37 12 11506229 11506231 + In_Frame_Del DEL TGC TGC - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:11506229_11506231delTGC ENST00000500254.2 - 4 444_446 c.407_409delGCA c.(406-411)aag>a p.SK136del PRB1_ENST00000546254.1_In_Frame_Del_p.SK136del|PRB1_ENST00000545626.1_In_Frame_Del_p.SK116del NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 330 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5). extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTTGGGACTTGCTGCCTCCTTG 0.596 32 626 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546135 11546137 + In_Frame_Del DEL TGC TGC - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:11546135_11546137delTGC ENST00000389362.4 - 3 910_912 c.875_877delGCA c.(874-879)aag>a p.SK292del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) CTTCGGGACTTGCTGCCTCCTTG 0.606 16 1096 --- --- --- --- HEBP1 50865 broad.mit.edu 37 12 13142224 13142225 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:13142224_13142225insC ENST00000536942.1 - 2 353_354 c.203_204insG c.(202-204)gacfs p.D68fs HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs Q9NRV9 HEBP1_HUMAN heme binding protein 1 68 circadian rhythm extracellular region breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 7 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.153) TGTCATTGGTGCCCCCCGCATA 0.554 27 1203 --- --- --- --- GRIN2B 2904 broad.mit.edu 37 12 14019043 14019044 + Frame_Shift_Ins INS - - G rs77738206 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:14019043_14019044insG ENST00000279593.3 - 2 308_309 c.99_100insC c.(97-102)ccgcatfs p.H34fs NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 34 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCAATGCTGGGGGGGCTCT 0.589 11 193 --- --- --- --- WBP11 51729 broad.mit.edu 37 12 14940365 14940366 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:14940365_14940366insG ENST00000261167.2 - 12 1792_1793 c.1559_1560insC c.(1558-1560)cggfs p.R520fs WBP11_ENST00000537574.1_Frame_Shift_Ins_p.R486fs NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 520 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding p.G521fs*28(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 GGAACAGCCCAGGGGGGGCAGG 0.550 9 238 --- --- --- --- KMT2D 8085 broad.mit.edu 37 12 49445525 49445526 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:49445525_49445526insG ENST00000301067.7 - 10 1939_1940 c.1940_1941insC c.(1939-1941)cccfs p.P647fs NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATACCTCAGGTGGGGGGGACAT 0.634 13 261 --- --- --- --- TROAP 10024 broad.mit.edu 37 12 49724676 49724677 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:49724676_49724677insC ENST00000551245.1 + 13 2159_2160 c.2048_2049insC c.(2047-2049)accfs p.T683fs TROAP_ENST00000547923.1_Frame_Shift_Ins_p.T362fs|TROAP_ENST00000257909.3_Frame_Shift_Ins_p.T683fs Q12815 TROAP_HUMAN trophinin associated protein 683 Cys-rich. cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 CTTTGTGCCAGCCCCCCTATCT 0.569 8 521 --- --- --- --- KRT79 338785 broad.mit.edu 37 12 53215777 53215778 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:53215777_53215778insC ENST00000330553.5 - 9 1520_1521 c.1486_1487insG c.(1486-1488)cacfs p.H496fs NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 496 Tail. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 ACCCTTGGTGGCCCCCCCACTC 0.619 7 128 --- --- --- --- AMHR2 269 broad.mit.edu 37 12 53819644 53819645 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:53819644_53819645insG ENST00000257863.4 + 6 873_874 c.793_794insG c.(793-795)gggfs p.G265fs AMHR2_ENST00000550311.1_Frame_Shift_Ins_p.G265fs|AMHR2_ENST00000379791.3_Frame_Shift_Ins_p.G265fs NM_001164690.1|NM_020547.2 NP_001158162.1|NP_065434.1 Q16671 AMHR2_HUMAN anti-Mullerian hormone receptor, type II 265 Protein kinase. Mullerian duct regression ATP binding|hormone binding|metal ion binding p.R265W(1) breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2) 34 Adenosine triphosphate(DB00171) CACTGCCAGCCGGGGGGGTCCT 0.579 8 134 --- --- --- --- PCBP2 5094 broad.mit.edu 37 12 53856277 53856278 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:53856277_53856278insC ENST00000603815.1 + 8 867_868 c.517_518insC c.(517-519)cccfs p.P173fs PCBP2_ENST00000359282.5_Splice_Site_p.P169_splice|PCBP2_ENST00000552819.1_Frame_Shift_Ins_p.P173fs|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000552296.2_Splice_Site_p.P169_splice|PCBP2_ENST00000549863.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000548933.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000359462.5_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000546463.1_Splice_Site_p.P169_splice|PCBP2_ENST00000541275.1_Splice_Site_p.P169_splice|PCBP2_ENST00000455667.3_Splice_Site_p.P169_splice|PCBP2_ENST00000447282.1_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000439930.3_Frame_Shift_Ins_p.P173fs|PCBP2_ENST00000437231.1_Splice_Site_p.P169_splice NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 173 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 TCTCTCCCAGTCCCCCCCGAAG 0.500 14 239 --- --- --- --- TARBP2 6895 broad.mit.edu 37 12 53898183 53898184 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:53898183_53898184insC ENST00000266987.2 + 5 908_909 c.425_426insC c.(424-426)accfs p.T142fs TARBP2_ENST00000456234.2_Frame_Shift_Ins_p.T121fs|TARBP2_ENST00000552857.1_Frame_Shift_Ins_p.T51fs|TARBP2_ENST00000394357.2_Frame_Shift_Ins_p.T121fs NM_134323.1 NP_599150.1 Q15633 TRBP2_HUMAN TAR (HIV-1) RNA binding protein 2 142 miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex double-stranded RNA binding|protein homodimerization activity|siRNA binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3) 10 TCCTTCAGGAGCCCCCCCATGG 0.564 7 136 --- --- --- --- OR6C4 341418 broad.mit.edu 37 12 55945453 55945454 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:55945453_55945454insG ENST00000394256.2 + 1 471_472 c.443_444insG c.(442-444)tggfs p.W148fs RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 148 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TGCTCCTGGTTGGGGGGATTCC 0.455 11 462 --- --- --- --- DNAJC14 85406 broad.mit.edu 37 12 56222209 56222210 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:56222209_56222210insG ENST00000357606.3 - 3 522_523 c.233_234insC c.(232-234)cggfs p.R78fs DNAJC14_ENST00000317269.3_Frame_Shift_Ins_p.R78fs|DNAJC14_ENST00000317287.5_Frame_Shift_Ins_p.R78fs Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 78 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CTGGACCCCCTGGGGGGCCATG 0.559 9 453 --- --- --- --- DGKA 1606 broad.mit.edu 37 12 56347513 56347514 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:56347513_56347514insC ENST00000331886.5 + 24 2623_2624 c.2169_2170insC c.(2167-2172)ccccccfs p.PP723fs DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR NM_001345.4 NP_001336.2 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1) 25 Vitamin E(DB00163) TCATGGGCCCACCCCCCCGCTC 0.579 13 357 --- --- --- --- ERBB3 2065 broad.mit.edu 37 12 56490961 56490962 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:56490961_56490962insG ENST00000267101.3 + 20 2847_2848 c.2407_2408insG c.(2407-2409)gggfs p.G803fs ERBB3_ENST00000450146.2_Frame_Shift_Ins_p.G160fs|ERBB3_ENST00000553131.1_Frame_Shift_Ins_p.G44fs|ERBB3_ENST00000415288.2_Frame_Shift_Ins_p.G744fs NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 803 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) GAGACAACACCGGGGGGCACTG 0.540 8 236 --- --- --- --- NACA 4666 broad.mit.edu 37 12 57114417 57114418 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:57114417_57114418insG ENST00000454682.1 - 3 1177_1178 c.896_897insC c.(895-897)cgafs p.R299fs NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000548563.1_Intron|NACA_ENST00000552540.1_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 TGGGAAAATCTGGGGGGGTGTT 0.490 T BCL6 NHL 7 120 --- --- --- --- LRP1 4035 broad.mit.edu 37 12 57572241 57572242 + Frame_Shift_Ins INS - - G rs139915490 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:57572241_57572242insG ENST00000243077.3 + 27 4927_4928 c.4461_4462insG c.(4459-4464)taggggfs p.*G1487fs NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1487 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGACGCTGTACGGGGGGGAGGT 0.589 9 242 --- --- --- --- GLI1 2735 broad.mit.edu 37 12 57860074 57860075 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:57860074_57860075insG ENST00000228682.2 + 8 905_906 c.814_815insG c.(814-816)gggfs p.G272fs GLI1_ENST00000543426.1_Frame_Shift_Ins_p.G144fs|GLI1_ENST00000546141.1_Frame_Shift_Ins_p.G231fs NM_005269.2 NP_005260.1 P08151 GLI1_HUMAN GLI family zinc finger 1 272 epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter cytosol|nucleus transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 GBM - Glioblastoma multiforme(3;3.99e-32) CGTGTGCCACTGGGGGGGCTGC 0.599 50 895 --- --- --- --- DCTN2 10540 broad.mit.edu 37 12 57927805 57927806 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:57927805_57927806insG ENST00000548249.1 - 7 866_867 c.599_600insC c.(598-600)cgafs p.R200fs DCTN2_ENST00000434715.3_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000543672.1_Frame_Shift_Ins_p.R205fs|DCTN2_ENST00000537439.1_Frame_Shift_Ins_p.R177fs NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 200 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 GGCTGCTATCTGGGGGGGTCCC 0.500 11 230 --- --- --- --- TMCC3 57458 broad.mit.edu 37 12 94975857 94975858 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:94975857_94975858insG ENST00000261226.4 - 2 666_667 c.535_536insC c.(535-537)ttgfs p.L179fs TMCC3_ENST00000551457.1_Frame_Shift_Ins_p.L148fs NM_020698.2 NP_065749.2 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 179 integral to membrane NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1) 29 CTCCATGCAATGGGGGGCAGTT 0.495 11 733 --- --- --- --- MYBPC1 4604 broad.mit.edu 37 12 102057273 102057274 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:102057273_102057274insC ENST00000549145.1 + 21 2355_2356 c.2255_2256insC c.(2254-2256)cccfs p.P752fs MYBPC1_ENST00000541119.1_Frame_Shift_Ins_p.P727fs|MYBPC1_ENST00000536007.1_Frame_Shift_Ins_p.P720fs|MYBPC1_ENST00000392934.3_Frame_Shift_Ins_p.P726fs|MYBPC1_ENST00000545503.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000452455.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000361466.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000361685.2_Frame_Shift_Ins_p.P764fs|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000360610.2_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000551300.1_Frame_Shift_Ins_p.P640fs|MYBPC1_ENST00000441232.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000550270.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547509.1_Frame_Shift_Ins_p.P725fs|MYBPC1_ENST00000553190.1_Frame_Shift_Ins_p.P739fs|MYBPC1_ENST00000547405.1_Frame_Shift_Ins_p.P713fs Q00872 MYPC1_HUMAN myosin binding protein C, slow type 739 Fibronectin type-III 2. Y -> H (in Ref. 3; CAD38925). cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 ATGAGGTGGCGCCCCCCAGACC 0.436 7 328 --- --- --- --- CORO1C 23603 broad.mit.edu 37 12 109048188 109048189 + Splice_Site INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:109048188_109048189insG ENST00000261401.3 - 7 923 c.e7-2 CORO1C_ENST00000421578.2_Splice_Site|CORO1C_ENST00000541050.1_Splice_Site|CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000420959.2_Splice_Site|CORO1C_ENST00000549772.1_Splice_Site NM_001105237.2|NM_001276471.1|NM_014325.2 NP_001098707.1|NP_001263400.1|NP_055140.1 Q9ULV4 COR1C_HUMAN coronin, actin binding protein, 1C actin cytoskeleton organization|phagocytosis|signal transduction actin cytoskeleton actin filament binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4) 24 CATATTTTTCTGGGGGGAAGAT 0.327 8 584 --- --- --- --- USP30 84749 broad.mit.edu 37 12 109495864 109495865 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:109495864_109495865insC ENST00000257548.5 + 3 420_421 c.327_328insC c.(325-330)gaccccfs p.DP109fs USP30_ENST00000392784.2_Frame_Shift_Ins_p.DP78fs NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 109 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 ATCAGAAGGAGCCCCCCTCACA 0.485 10 1672 --- --- --- --- UBE3B 89910 broad.mit.edu 37 12 109939222 109939223 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:109939222_109939223insG ENST00000342494.3 + 13 1760_1761 c.1165_1166insG c.(1165-1167)gggfs p.G389fs UBE3B_ENST00000280774.5_Frame_Shift_Ins_p.G389fs|UBE3B_ENST00000434735.2_Frame_Shift_Ins_p.G389fs NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 389 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GCAGTTCTTGTGGGGGGTGCCT 0.554 12 342 --- --- --- --- SLC8B1 80024 broad.mit.edu 37 12 113758305 113758306 + Splice_Site INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:113758305_113758306insG ENST00000552014.1 - 8 1042 c.e8-2 SLC24A6_ENST00000546737.1_Intron|SLC24A6_ENST00000202831.3_Splice_Site|SLC24A6_ENST00000553238.1_Intron Q6J4K2 NCKX6_HUMAN response to stimulus|sodium ion transport integral to membrane|plasma membrane calcium:cation antiporter activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1) 16 CGCCAGCGCCTGGGGGGAGGAG 0.644 12 862 --- --- --- --- KSR2 283455 broad.mit.edu 37 12 117977604 117977605 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:117977604_117977605insG ENST00000425217.1 - 10 1573_1574 c.1519_1520insC c.(1519-1521)cccfs p.P507fs KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Frame_Shift_Ins_p.P536fs|KSR2_ENST00000302438.5_Frame_Shift_Ins_p.P233fs NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 536 intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACTAGGAGGGAGGGGGGGTGCT 0.634 11 189 --- --- --- --- SIRT4 23409 broad.mit.edu 37 12 120750293 120750294 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:120750293_120750294insG ENST00000202967.4 + 3 591_592 c.532_533insG c.(532-534)gggfs p.G178fs SIRT4_ENST00000537892.1_Intron NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 178 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACAGACTCCCCGGGGGGTGCTG 0.579 8 362 --- --- --- --- MSI1 4440 broad.mit.edu 37 12 120800902 120800903 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:120800902_120800903insC ENST00000257552.2 - 6 433_434 c.345_346insG c.(343-348)ggtgtcfs p.V116fs NM_002442.3 NP_002433.1 O43347 MSI1H_HUMAN musashi RNA-binding protein 1 116 RRM 2. nervous system development cytoplasm|nucleus nucleotide binding breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 19 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TTCACCGACAGCCCCCCCACAA 0.564 19 373 --- --- --- --- VPS33A 65082 broad.mit.edu 37 12 122720396 122720397 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr12:122720396_122720397insC ENST00000267199.4 - 11 1488_1489 c.1376_1377insG c.(1375-1377)gagfs p.E459fs RP11-512M8.5_ENST00000535844.1_Frame_Shift_Ins_p.E420fs NM_022916.4 NP_075067.2 Q96AX1 VP33A_HUMAN vacuolar protein sorting 33 homolog A (S. cerevisiae) 459 lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm protein binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2) 28 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23) AATTGTTTCTGCCCCCCGTCTG 0.495 10 425 --- --- --- --- KBTBD6 89890 broad.mit.edu 37 13 41705321 41705322 + Frame_Shift_Ins INS - - C rs147771080 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr13:41705321_41705322insC ENST00000379485.1 - 1 1560_1561 c.1326_1327insG c.(1324-1329)gggagafs p.R443fs KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 443 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) ATAGGGTCTCGCCCCCCCAAAA 0.470 16 259 --- --- --- --- MBNL2 10150 broad.mit.edu 37 13 97928603 97928604 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr13:97928603_97928604insC ENST00000345429.6 + 2 895_896 c.114_115insC c.(112-117)caccccfs p.HP38fs MBNL2_ENST00000376673.3_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000397601.1_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000445661.2_Frame_Shift_Ins_p.HP38fs|MBNL2_ENST00000343600.4_Frame_Shift_Ins_p.HP38fs NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 38 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) AATTTGCTCATCCCCCCAAAAG 0.411 7 428 --- --- --- --- OR4N2 390429 broad.mit.edu 37 14 20295776 20295777 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:20295776_20295777insC ENST00000315947.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs OR4N2_ENST00000568211.1_Frame_Shift_Ins_p.P57fs NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TGGGCTCACAGCCCCCCTCTAT 0.475 9 833 --- --- --- --- OR4K5 79317 broad.mit.edu 37 14 20389294 20389294 + Frame_Shift_Del DEL T T - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:20389294delT ENST00000315915.4 + 1 554 c.529delT c.(529-531)ttfs p.F178fs NM_001005483.1 NP_001005483.1 Q8NGD3 OR4K5_HUMAN olfactory receptor, family 4, subfamily K, member 5 178 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) AGTAGACAGCTTTTTTTGTGA 0.423 10 1254 --- --- --- --- OR4N5 390437 broad.mit.edu 37 14 20612063 20612064 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:20612063_20612064insC ENST00000333629.1 + 1 169_170 c.169_170insC c.(169-171)cccfs p.P57fs NM_001004724.1 NP_001004724.1 Q8IXE1 OR4N5_HUMAN olfactory receptor, family 4, subfamily N, member 5 57 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1) 29 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.84e-06) GBM - Glioblastoma multiforme(265;0.0143) TGGGCTCACAGCCCCCCTCTAT 0.460 7 1531 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20846337 20846338 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:20846337_20846338insC ENST00000262715.5 - 39 5606_5607 c.5566_5567insG c.(5566-5568)tgtfs p.C1856fs TEP1_ENST00000545983.1_Frame_Shift_Ins_p.C194fs|TEP1_ENST00000556935.1_Frame_Shift_Ins_p.C1748fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1856 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CACAGCCACAACCCCCCCAGGC 0.624 7 156 --- --- --- --- TEP1 7011 broad.mit.edu 37 14 20852646 20852647 + Frame_Shift_Ins INS - - C rs144584331 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:20852646_20852647insC ENST00000262715.5 - 23 3282_3283 c.3242_3243insG c.(3241-3243)ggtfs p.G1081fs TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1081 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding p.V1082fs*47(1) NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) CAGCTGCCACACCCCCCCACTC 0.584 23 506 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21546603 21546604 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:21546603_21546604insG ENST00000298694.4 + 10 2329_2330 c.2202_2203insG c.(2200-2205)gaggggfs p.EG734fs ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.EG734fs Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 734 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 TGCAGAGGGATGGGGGGGCCAT 0.629 14 183 --- --- --- --- ARHGEF40 55701 broad.mit.edu 37 14 21556191 21556192 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:21556191_21556192insC ENST00000298694.4 + 22 4579_4580 c.4452_4453insC c.(4450-4455)caccccfs p.HP1484fs ARHGEF40_ENST00000298693.3_Frame_Shift_Ins_p.HP1436fs Q8TER5 ARH40_HUMAN Rho guanine nucleotide exchange factor (GEF) 40 1484 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2) 9 CCAGCCTGCAACCCCCCCACCC 0.574 8 117 --- --- --- --- SALL2 6297 broad.mit.edu 37 14 21992275 21992276 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:21992275_21992276insG ENST00000327430.3 - 2 1880_1881 c.1586_1587insC c.(1585-1587)cggfs p.R529fs SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000538754.1_Intron NM_005407.1 NP_005398.1 Q9Y467 SALL2_HUMAN spalt-like transcription factor 2 529 DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2) 43 all_cancers(95;0.000662) GBM - Glioblastoma multiforme(265;0.0151) CCTCACTCCCTGGGGGGGTGTT 0.530 13 234 --- --- --- --- OR10G2 26534 broad.mit.edu 37 14 22102924 22102925 + Frame_Shift_Ins INS - - G rs150140072 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:22102924_22102925insG ENST00000542433.1 - 1 171_172 c.74_75insC c.(73-75)caafs p.Q25fs NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 25 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) TTCTTAGATTTGGGGGGTGAGA 0.480 8 414 --- --- --- --- TRAC 28755 broad.mit.edu 37 14 23020674 23020675 + RNA INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:23020674_23020675insC ENST00000478163.3 + 0 551_552 CCACCTCTGTGCCCCCCCGGCA 0.554 7 349 --- --- --- --- RBM23 55147 broad.mit.edu 37 14 23371029 23371030 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:23371029_23371030insG ENST00000359890.3 - 13 1504_1505 c.1309_1310insC c.(1309-1311)gacfs p.D437fs RBM23_ENST00000555209.1_Frame_Shift_Ins_p.D187fs|RBM23_ENST00000346528.5_Frame_Shift_Ins_p.D403fs|RBM23_ENST00000542016.2_Frame_Shift_Ins_p.D267fs|RBM23_ENST00000399922.2_Frame_Shift_Ins_p.D421fs NM_001077351.1 NP_001070819.1 Q86U06 RBM23_HUMAN RNA binding motif protein 23 437 mRNA processing nucleus nucleotide binding|RNA binding endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1) 10 all_cancers(95;4.69e-05) GBM - Glioblastoma multiforme(265;0.0128) TCACATGGTCTGGGGGGTAAAG 0.505 8 1374 --- --- --- --- GZMH 2999 broad.mit.edu 37 14 25075937 25075938 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:25075937_25075938insC ENST00000216338.4 - 5 656_657 c.612_613insG c.(610-615)ggccctfs p.GP204fs RP11-104E19.1_ENST00000555300.1_RNA|RP11-104E19.1_ENST00000557736.1_RNA|GZMH_ENST00000557220.2_Frame_Shift_Ins_p.GP73fs|GZMH_ENST00000382548.4_Frame_Shift_Ins_p.GP118fs NM_033423.3 NP_219491.1 P20718 GRAH_HUMAN granzyme H (cathepsin G-like 2, protein h-CCPX) 204 Peptidase S1. apoptosis|cytolysis|proteolysis cytoplasm serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1) 12 GBM - Glioblastoma multiforme(265;0.0267) CACACGAGGGGCCCCCCGGAGT 0.535 7 312 --- --- --- --- ABHD12B 145447 broad.mit.edu 37 14 51347189 51347190 + Frame_Shift_Ins INS - - G rs141865189 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:51347189_51347190insG ENST00000337334.2 + 4 370_371 c.355_356insG c.(355-357)gggfs p.G119fs ABHD12B_ENST00000554241.1_3'UTR|ABHD12B_ENST00000395752.1_Frame_Shift_Ins_p.G12fs|ABHD12B_ENST00000353130.1_Frame_Shift_Ins_p.G42fs|PYGL_ENST00000532462.1_Intron NM_001206673.1 NP_001193602.1 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B 119 hydrolase activity breast(2)|endometrium(1)|large_intestine(2)|lung(5) 10 all_epithelial(31;0.00481)|Breast(41;0.148) CCCCAGCTGCCGGGGGGAAGAT 0.490 7 393 --- --- --- --- KCNH5 27133 broad.mit.edu 37 14 63174302 63174303 + Frame_Shift_Ins INS - - G rs35940222 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:63174302_63174303insG ENST00000322893.7 - 11 3158_3159 c.2890_2891insC c.(2890-2892)gatfs p.D964fs KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 964 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) ACATGGTATCTGGGGGGGTACT 0.391 9 317 --- --- --- --- DCAF5 8816 broad.mit.edu 37 14 69588975 69588976 + Frame_Shift_Ins INS - - A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:69588975_69588976insA ENST00000341516.5 - 2 463_464 c.316_317insT c.(316-318)cctfs p.P106fs DCAF5_ENST00000389997.6_Frame_Shift_Ins_p.P106fs|DCAF5_ENST00000556847.1_Frame_Shift_Ins_p.P24fs|DCAF5_ENST00000557386.1_Frame_Shift_Ins_p.P106fs|DCAF5_ENST00000554215.1_Frame_Shift_Ins_p.P24fs NM_003861.2 NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 106 CUL4 RING ubiquitin ligase complex p.C106fs*10(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 GAAAGCCAGGCAAAAAATGTTG 0.485 7 800 --- --- --- --- GALNT16 57452 broad.mit.edu 37 14 69800299 69800300 + Frame_Shift_Ins INS - - G rs144140025 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:69800299_69800300insG ENST00000337827.4 + 9 1276_1277 c.949_950insG c.(949-951)gggfs p.G317fs GALNT16_ENST00000553669.1_Frame_Shift_Ins_p.G317fs|GALNT16_ENST00000448469.3_Frame_Shift_Ins_p.G317fs NM_001168368.1|NM_020692.2 NP_001161840.1|NP_065743.2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16 GATGGACATCTGGGGGGGAGAG 0.470 7 249 --- --- --- --- MED6 10001 broad.mit.edu 37 14 71051554 71051555 + Frame_Shift_Ins INS - - G rs145634622 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:71051554_71051555insG ENST00000256379.5 - 8 745_746 c.716_717insC c.(715-717)cgafs p.R239fs MED6_ENST00000554963.1_Frame_Shift_Ins_p.R239fs|MED6_ENST00000430055.2_Frame_Shift_Ins_p.R246fs|MED6_ENST00000440435.2_3'UTR NM_005466.2 NP_005457.2 O75586 MED6_HUMAN mediator complex subunit 6 239 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex transcription coactivator activity p.E240fs*1(1) large_intestine(2)|lung(2)|skin(1) 5 all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352) TCCGTTTTTCAGGGGGGCCTTT 0.450 10 1170 --- --- --- --- SIPA1L1 26037 broad.mit.edu 37 14 72165808 72165809 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:72165808_72165809insG ENST00000555818.1 + 11 3833_3834 c.3485_3486insG c.(3484-3486)gggfs p.G1162fs SIPA1L1_ENST00000381232.3_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000358550.2_Frame_Shift_Ins_p.G1162fs|SIPA1L1_ENST00000537413.1_Frame_Shift_Ins_p.G637fs NM_015556.1 NP_056371.1 O43166 SI1L1_HUMAN signal-induced proliferation-associated 1 like 1 1162 actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome GTPase activator activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1) 78 all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109) ACTGGTTCTGTGGGGGGCACTT 0.495 9 372 --- --- --- --- CCDC176 80127 broad.mit.edu 37 14 74514756 74514760 + Frame_Shift_Del DEL TACTT TACTT - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:74514756_74514760delTACTT ENST00000394009.3 + 7 894_898 c.771_775delTACTT c.(769-777)catafs p.HTL257fs CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_3'UTR NM_025057.2 NP_079333.2 coiled-coil domain containing 176 AAGAGAGTCATACTTTACTTTTACA 0.341 9 47 --- --- --- --- YLPM1 56252 broad.mit.edu 37 14 75248518 75248519 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:75248518_75248519insC ENST00000325680.7 + 4 1896_1897 c.1772_1773insC c.(1771-1773)cccfs p.P591fs YLPM1_ENST00000238571.3_Intron|YLPM1_ENST00000552421.1_Frame_Shift_Ins_p.P591fs NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 392 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CCACCAGTTCTCCCCCCACCTT 0.599 9 571 --- --- --- --- NRXN3 9369 broad.mit.edu 37 14 79270135 79270136 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:79270135_79270136insG ENST00000554719.1 + 6 1589_1590 c.1098_1099insG c.(1096-1101)gaggggfs p.EG366fs NRXN3_ENST00000335750.5_Frame_Shift_Ins_p.EG366fs NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 144 angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGAGCTGGATGGGGGGCGTGT 0.540 7 289 --- --- --- --- SERPINA1 5265 broad.mit.edu 37 14 94844884 94844885 + Frame_Shift_Ins INS - - G rs143329723 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:94844884_94844885insG ENST00000448921.1 - 7 1730_1731 c.1158_1159insC c.(1156-1161)ccaggtfs p.G387fs SERPINA1_ENST00000404814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000440909.1_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393088.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000449399.3_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000393087.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000355814.4_Frame_Shift_Ins_p.G387fs|SERPINA1_ENST00000437397.1_Frame_Shift_Ins_p.G387fs NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 387 RCL. E -> K (in Christchurch). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AACTTGACCTCGGGGGGGATAG 0.490 10 255 --- --- --- --- IGHV4-39 28394 broad.mit.edu 37 14 106877817 106877819 + RNA DEL ACT ACT - rs113800876 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:106877817_106877819delACT ENST00000390619.2 - 0 224_226 CCCAGTAGTAACTACTACTGCTG 0.596 26 159 --- --- --- --- OR4M2 390538 broad.mit.edu 37 15 22369023 22369024 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:22369023_22369024insG ENST00000332663.2 + 1 546_547 c.448_449insG c.(448-450)gggfs p.G150fs RP11-69H14.6_ENST00000558896.1_RNA NM_001004719.2 NP_001004719.2 Q8NGB6 OR4M2_HUMAN olfactory receptor, family 4, subfamily M, member 2 150 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R150M(2)|p.R150W(1) NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 63 all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101) GBM - Glioblastoma multiforme(6;0.124) all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963) TCTCTCCTGGAGGGGGGGCTTC 0.500 48 1052 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 34078053 34078054 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:34078053_34078054insC ENST00000389232.4 + 66 9529_9530 c.9459_9460insC c.(9457-9462)ctccccfs p.LP3153fs RYR3_ENST00000415757.3_Frame_Shift_Ins_p.LP3153fs NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3153 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) CTGAGAACCTGCCCCCCAGCAC 0.564 8 605 --- --- --- --- C15orf52 388115 broad.mit.edu 37 15 40630771 40630772 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:40630771_40630772insG ENST00000559313.1 - 5 624_625 c.609_610insC c.(607-612)cccgcafs p.A204fs NM_207380.2 NP_997263.2 Q6ZUT6 CO052_HUMAN chromosome 15 open reading frame 52 204 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1) 19 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841) GCCACCTGCGTGGGGGGGCTTC 0.584 OREG0023060 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 288 --- --- --- --- SORD 6652 broad.mit.edu 37 15 45353365 45353366 + Frame_Shift_Ins INS - - C rs11542063 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:45353365_45353366insC ENST00000267814.9 + 4 546_547 c.366_367insC c.(364-369)acccccfs p.TP122fs SORD_ENST00000558580.1_Frame_Shift_Ins_p.TP101fs NM_003104.5 NP_003095.2 Q00796 DHSO_HUMAN sorbitol dehydrogenase 122 fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(4) 9 all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122) all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706) NADH(DB00157) TCTGTGCCACGCCCCCCGATGA 0.530 15 410 --- --- --- --- WDR72 256764 broad.mit.edu 37 15 53908070 53908071 + Frame_Shift_Ins INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:53908070_53908071insT ENST00000396328.1 - 15 2571_2572 c.2332_2333insA c.(2332-2334)gcafs p.A778fs WDR72_ENST00000559418.1_Frame_Shift_Ins_p.A788fs|WDR72_ENST00000360509.5_Frame_Shift_Ins_p.A778fs|WDR72_ENST00000557913.1_Frame_Shift_Ins_p.A775fs NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 778 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) CTTAGGCTGCATTTTTTTGGAG 0.391 7 1112 --- --- --- --- RFX7 64864 broad.mit.edu 37 15 56386880 56386881 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:56386880_56386881insG ENST00000423270.1 - 9 3044_3045 c.3045_3046insC c.(3043-3048)ccgcccfs p.P1016fs RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs NM_022841.5 NP_073752.5 Q2KHR2 RFX7_HUMAN regulatory factor X, 7 919 regulation of transcription, DNA-dependent nucleus DNA binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 19 TCAACAGGGCTGGGGGGGACAC 0.500 7 181 --- --- --- --- GTF2A2 2958 broad.mit.edu 37 15 59942953 59942954 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:59942953_59942954insG ENST00000396060.2 - 3 272_273 c.91_92insC c.(91-93)actfs p.T31fs GTF2A2_ENST00000267869.4_Intron|GTF2A2_ENST00000396061.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000396063.1_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000396064.3_Frame_Shift_Ins_p.T31fs|GTF2A2_ENST00000484743.1_Intron|AC092755.4_ENST00000441746.1_RNA NM_004492.2 NP_004483.1 P52657 T2AG_HUMAN general transcription factor IIA, 2, 12kDa 31 interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIIA complex protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity central_nervous_system(2)|kidney(2)|lung(1) 5 AAGGGCAAGTTGGGGGGTGATC 0.376 7 231 --- --- --- --- HERC1 8925 broad.mit.edu 37 15 63918305 63918306 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:63918305_63918306insG ENST00000443617.2 - 71 13240_13241 c.13153_13154insC c.(13153-13155)gtafs p.V4385fs NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4385 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 CGCCCCATACTGGGGGGGCACT 0.559 9 102 --- --- --- --- ZNF609 23060 broad.mit.edu 37 15 64967993 64967994 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:64967993_64967994insC ENST00000326648.3 + 4 3068_3069 c.2940_2941insC c.(2938-2943)gtccccfs p.VP980fs NM_015042.1 NP_055857.1 O15014 ZN609_HUMAN zinc finger protein 609 980 nucleus zinc ion binding breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 ATGCCTATGTACCCCCCTATGG 0.550 11 1272 --- --- --- --- LARP6 55323 broad.mit.edu 37 15 71125256 71125257 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:71125256_71125257insG ENST00000299213.8 - 3 680_681 c.610_611insC c.(610-612)gaafs p.E204fs NM_018357.2 NP_060827.2 Q9BRS8 LARP6_HUMAN La ribonucleoprotein domain family, member 6 204 RNA processing Golgi apparatus|nucleus|ribonucleoprotein complex nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 19 TCCATTCTTCTGGGGGGTGGCC 0.545 8 209 --- --- --- --- ALPK3 57538 broad.mit.edu 37 15 85405928 85405929 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:85405928_85405929insG ENST00000258888.5 + 10 4965_4966 c.4798_4799insG c.(4798-4800)gggfs p.G1600fs NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1600 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) CTCTGGCTGCTGGGGGGACAAG 0.584 7 181 --- --- --- --- IGF1R 3480 broad.mit.edu 37 15 99251108 99251109 + Frame_Shift_Ins INS - - G rs121912426 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:99251108_99251109insG ENST00000268035.6 + 2 1023_1024 c.412_413insG c.(412-414)gggfs p.G138fs IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 138 R -> Q (in IGF1RES; has decreased IGF1R function). anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) GAACATTACTCGGGGGGCCATC 0.510 10 418 --- --- --- --- ZNF174 7727 broad.mit.edu 37 16 3452110 3452111 + Frame_Shift_Ins INS - - A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:3452110_3452111insA ENST00000268655.4 + 1 691_692 c.106_107insA c.(106-108)aaafs p.K36fs ZNF174_ENST00000344823.5_Frame_Shift_Ins_p.K36fs|ZNF174_ENST00000572544.1_Frame_Shift_Ins_p.K36fs|LA16c-306E5.2_ENST00000575785.1_RNA|ZNF174_ENST00000575752.1_Frame_Shift_Ins_p.K36fs|ZNF174_ENST00000571936.1_Frame_Shift_Ins_p.K36fs NM_003450.2 NP_003441.1 Q15697 ZN174_HUMAN zinc finger protein 174 36 negative regulation of transcription from RNA polymerase II promoter|viral reproduction actin cytoskeleton|cytoplasm|nucleus protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2) 12 CCCTCCTCTGCAAAAAAACTGC 0.500 7 374 --- --- --- --- SLX4 84464 broad.mit.edu 37 16 3634840 3634841 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:3634840_3634841insG ENST00000294008.3 - 13 5308_5309 c.4668_4669insC c.(4666-4671)ccaagtfs p.S1557fs NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1557 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 ATGGGCACTTTGGGGGGCAAGT 0.500 Direct reversal of damage 12 468 --- --- --- --- ACSM2A 123876 broad.mit.edu 37 16 20489924 20489925 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:20489924_20489925insC ENST00000573854.1 + 10 1320_1321 c.1206_1207insC c.(1204-1209)ctccccfs p.LP402fs ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 402 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 GCAACGTCCTGCCCCCCGGCAC 0.505 7 343 --- --- --- --- DNAH3 55567 broad.mit.edu 37 16 20966297 20966298 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:20966297_20966298insG ENST00000261383.3 - 55 10907_10908 c.10908_10909insC c.(10906-10911)ccaaggfs p.R3637fs DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 3637 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGGAGCCCTTTGGGGGGCTCAT 0.510 7 458 --- --- --- --- RRN3P1 730092 broad.mit.edu 37 16 21814059 21814060 + RNA INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:21814059_21814060insG ENST00000546471.1 - 0 1607 CCTATAACAAAGGGGGGGGAAA 0.381 10 151 --- --- --- --- ERN2 10595 broad.mit.edu 37 16 23718095 23718096 + Frame_Shift_Ins INS - - G rs143761786 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:23718095_23718096insG ENST00000256797.4 - 6 778_779 c.610_611insC c.(610-612)cctfs p.P204fs ERN2_ENST00000457008.2_Frame_Shift_Ins_p.P156fs NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 156 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) AATGTAGAGGCGGGGGGTGGAG 0.604 8 433 --- --- --- --- ATXN2L 11273 broad.mit.edu 37 16 28846490 28846491 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:28846490_28846491insC ENST00000336783.4 + 19 2712_2713 c.2545_2546insC c.(2545-2547)cccfs p.P849fs RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P855fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P849fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P849fs NM_007245.3 NP_009176.2 Q8WWM7 ATX2L_HUMAN ataxin 2-like 849 membrane breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 AGAGCAGCCTACCCCCCAAGCC 0.624 11 453 --- --- --- --- TBX6 6911 broad.mit.edu 37 16 30100077 30100078 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:30100077_30100078insC ENST00000553607.1 - 4 1397_1398 c.704_705insG c.(703-705)gatfs p.D235fs TBX6_ENST00000279386.2_Frame_Shift_Ins_p.D235fs|TBX6_ENST00000395224.2_Frame_Shift_Ins_p.D235fs O95947 TBX6_HUMAN T-box 6 235 anatomical structure morphogenesis|mesoderm development|multicellular organismal development nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1) 9 AGGAGGCCATGCCCCCCCAGTG 0.629 19 214 --- --- --- --- CD2BP2 10421 broad.mit.edu 37 16 30365544 30365545 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:30365544_30365545insC ENST00000305596.3 - 3 352_353 c.177_178insG c.(175-180)ggccagfs p.Q60fs CD2BP2_ENST00000569466.1_Frame_Shift_Ins_p.Q60fs NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 60 assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 TATTTGCTGGACCCCCCATCAT 0.535 7 1097 --- --- --- --- PRSS36 146547 broad.mit.edu 37 16 31150581 31150582 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:31150581_31150582insG ENST00000268281.4 - 15 2503_2504 c.2445_2446insC c.(2443-2448)ccgtggfs p.W816fs PRSS36_ENST00000569305.1_Frame_Shift_Ins_p.W811fs|PRSS36_ENST00000418068.2_Frame_Shift_Ins_p.W713fs NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 816 proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 GGGGAGCCACTGGGGGGCAGGA 0.634 7 138 --- --- --- --- ITGAD 3681 broad.mit.edu 37 16 31422475 31422476 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:31422475_31422476insC ENST00000389202.2 + 13 1484_1485 c.1435_1436insC c.(1435-1437)cccfs p.P479fs NM_005353.2 NP_005344.2 Q13349 ITAD_HUMAN integrin, alpha D 479 cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway integrin complex receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 CCTCATTGGGGCCCCCCATTAC 0.649 9 821 --- --- --- --- C16orf87 388272 broad.mit.edu 37 16 46843530 46843531 + Frame_Shift_Ins INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:46843530_46843531insT ENST00000285697.4 - 3 591_592 c.330_331insA c.(328-333)aaatgafs p.*111fs C16orf87_ENST00000564250.1_5'UTR|C16orf87_ENST00000394806.2_Intron NM_001001436.2 NP_001001436.1 Q6PH81 CP087_HUMAN chromosome 16 open reading frame 87 111 large_intestine(4)|urinary_tract(1) 5 TCTTCCTCATGTTTTTTGGCAG 0.351 8 1127 --- --- --- --- C16orf70 80262 broad.mit.edu 37 16 67180988 67180989 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:67180988_67180989insC ENST00000219139.3 + 16 1411_1412 c.1223_1224insC c.(1222-1224)gccfs p.A408fs C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 408 p.R411fs*4(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) ACCCTGTATGGCCCCCCCAGGC 0.594 12 310 --- --- --- --- DPEP2 64174 broad.mit.edu 37 16 68021467 68021468 + Frame_Shift_Ins INS - - G rs1133090 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:68021467_68021468insG ENST00000412757.2 - 12 2067_2068 c.1402_1403insC c.(1402-1404)catfs p.H468fs DPEP2_ENST00000572888.1_Frame_Shift_Ins_p.H468fs|DPEP2_ENST00000393847.1_Frame_Shift_Ins_p.H468fs Q9H4A9 DPEP2_HUMAN dipeptidase 2 468 H -> D (in dbSNP:rs1133090). hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis anchored to membrane|plasma membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239) TGGGGCCATGTGGGGGGAGGAC 0.545 8 445 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69727259 69727260 + Frame_Shift_Ins INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:69727259_69727260insT ENST00000349945.1 + 14 4801_4802 c.3249_3250insT c.(3247-3252)gcttttfs p.AF1083fs NFAT5_ENST00000566899.1_Frame_Shift_Ins_p.AF1083fs|NFAT5_ENST00000567239.1_Frame_Shift_Ins_p.AF1176fs|NFAT5_ENST00000393742.2_Frame_Shift_Ins_p.AF1083fs|NFAT5_ENST00000432919.1_Frame_Shift_Ins_p.AF1177fs|NFAT5_ENST00000354436.2_Frame_Shift_Ins_p.AF1159fs NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 1159 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 CCCAAGAAGCATTTTTTGCAGC 0.436 7 661 --- --- --- --- KLHDC4 54758 broad.mit.edu 37 16 87795566 87795567 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr16:87795566_87795567insG ENST00000270583.5 - 2 237_238 c.179_180insC c.(178-180)cccfs p.P60fs KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Frame_Shift_Ins_p.P60fs NM_017566.3 NP_060036.2 Q8TBB5 KLDC4_HUMAN kelch domain containing 4 60 breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 21 BRCA - Breast invasive adenocarcinoma(80;0.0283) TTGGTGAGGGTGGGGGGCACGG 0.465 7 496 --- --- --- --- PAFAH1B1 5048 broad.mit.edu 37 17 2583499 2583500 + Frame_Shift_Ins INS - - G rs113994201 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:2583499_2583500insG ENST00000397195.5 + 10 1495_1496 c.1044_1045insG c.(1042-1047)tcggggfs p.SG348fs PAFAH1B1_ENST00000451360.2_Frame_Shift_Ins_p.SG143fs|PAFAH1B1_ENST00000397193.3_3'UTR NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 348 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 TGTTCCATTCTGGGGGGAAGTT 0.401 10 618 --- --- --- --- ALOX12 239 broad.mit.edu 37 17 6903739 6903740 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:6903739_6903740insC ENST00000251535.6 + 7 945_946 c.892_893insC c.(892-894)cccfs p.P298fs RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000575727.1_Intron NM_000697.2 NP_000688.2 P18054 LOX12_HUMAN arachidonate 12-lipoxygenase 298 Lipoxygenase. A -> T. anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation cytosol|sarcolemma arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1) 19 ATACCTGGCTGCCCCCCTCGTT 0.554 8 833 --- --- --- --- EFNB3 1949 broad.mit.edu 37 17 7612855 7612856 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:7612855_7612856insC ENST00000226091.2 + 5 1381_1382 c.984_985insC c.(982-987)ggccccfs p.GP328fs NM_001406.3 NP_001397.1 Q15768 EFNB3_HUMAN ephrin-B3 328 cell-cell signaling|interspecies interaction between organisms integral to plasma membrane ephrin receptor binding|transmembrane-ephrin receptor activity large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1) 8 all_cancers(10;1.14e-06)|Prostate(122;0.081) TGCAGGATGGGCCCCCCCAGAG 0.574 7 160 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7798764 7798765 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:7798764_7798765insC ENST00000380358.4 + 10 1789_1790 c.1788_1789insC c.(1786-1791)ccccccfs p.PP596fs CHD3_ENST00000358181.4_Frame_Shift_Ins_p.PP537fs|CHD3_ENST00000330494.7_Frame_Shift_Ins_p.PP537fs NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 537 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) CAGATGTCCCACCCCCCCGTCC 0.574 26 367 --- --- --- --- SSH2 85464 broad.mit.edu 37 17 27963294 27963295 + Frame_Shift_Ins INS - - G rs35554312 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:27963294_27963295insG ENST00000269033.3 - 14 2023_2024 c.1872_1873insC c.(1870-1875)cctgtcfs p.V625fs RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs NM_033389.2 NP_203747.2 Q76I76 SSH2_HUMAN slingshot protein phosphatase 2 625 actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity SSH2/SUZ12(2) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCAGGGGACATGGGGGGGTCTT 0.470 10 230 --- --- --- --- PCGF2 7703 broad.mit.edu 37 17 36896586 36896587 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:36896586_36896587insC ENST00000580830.1 - 4 770_771 c.69_70insG c.(67-72)ggacttfs p.L24fs PCGF2_ENST00000360797.2_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000581345.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000585100.1_Frame_Shift_Ins_p.L24fs|PCGF2_ENST00000578109.1_Intron|PCGF2_ENST00000579882.1_Frame_Shift_Ins_p.L24fs P35227 PCGF2_HUMAN polycomb group ring finger 2 24 negative regulation of transcription from RNA polymerase II promoter PcG protein complex DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1) 10 Breast(7;9.07e-22) TCGATGAAGTACCCCCCGCAGA 0.629 12 295 --- --- --- --- CD300LG 146894 broad.mit.edu 37 17 41931337 41931338 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:41931337_41931338insC ENST00000317310.4 + 4 685_686 c.644_645insC c.(643-645)cccfs p.P215fs CD300LG_ENST00000293396.8_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000377203.4_Frame_Shift_Ins_p.P181fs|CD300LG_ENST00000586233.1_Frame_Shift_Ins_p.P130fs|CD300LG_ENST00000539718.1_Frame_Shift_Ins_p.P215fs NM_145273.3 NP_660316.2 Q6UXG3 CLM9_HUMAN CD300 molecule-like family member g 215 apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane receptor activity central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4) 19 Breast(137;0.0199) BRCA - Breast invasive adenocarcinoma(366;0.115) GGGAGCTCCCGCCCCCCCATGC 0.629 10 99 --- --- --- --- CA10 56934 broad.mit.edu 37 17 50008356 50008357 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:50008356_50008357insC ENST00000451037.2 - 3 1212_1213 c.272_273insG c.(271-273)gagfs p.E91fs CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs|CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 91 brain development p.G91V(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TTACCTTCCTGCCCCCCGTGTT 0.490 12 557 --- --- --- --- ABCA6 23460 broad.mit.edu 37 17 67083603 67083604 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr17:67083603_67083604insG ENST00000284425.2 - 29 3883_3884 c.3709_3710insC c.(3709-3711)aagfs p.K1237fs ABCA6_ENST00000446604.2_5'UTR NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 1237 transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ATCTCTACTTTGGGGGGAAATT 0.376 10 686 --- --- --- --- CTAGE1 64693 broad.mit.edu 37 18 19995705 19995706 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr18:19995705_19995706insG ENST00000391403.2 - 1 2172_2173 c.2069_2070insC c.(2068-2070)cccfs p.P690fs NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 690 Pro-rich. integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) CTGGAGGAGGTGGGGGGAAAGG 0.500 12 491 --- --- --- --- ZBTB7C 201501 broad.mit.edu 37 18 45566518 45566519 + Frame_Shift_Ins INS - - C rs113275715 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr18:45566518_45566519insC ENST00000588982.1 - 3 1461_1462 c.960_961insG c.(958-963)ggctctfs p.S321fs ZBTB7C_ENST00000590800.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000586438.1_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000332053.2_Frame_Shift_Ins_p.S321fs|ZBTB7C_ENST00000535628.2_Frame_Shift_Ins_p.S321fs A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 321 Pro-rich. intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGTCCCAGAGGCCCCCCCGGCA 0.624 9 171 --- --- --- --- ZNF532 55205 broad.mit.edu 37 18 56586491 56586492 + Frame_Shift_Ins INS - - A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr18:56586491_56586492insA ENST00000336078.4 + 4 1748_1749 c.972_973insA c.(970-975)acaaaafs p.TK324fs ZNF532_ENST00000591808.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591083.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000591230.1_Frame_Shift_Ins_p.TK324fs|ZNF532_ENST00000589288.1_Frame_Shift_Ins_p.TK324fs NM_018181.4 NP_060651.2 Q9HCE3 ZN532_HUMAN zinc finger protein 532 324 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 TCGACGGGACCAAAAAACCATC 0.530 7 585 --- --- --- --- C3 718 broad.mit.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G rs137956083 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:6697480_6697481insG ENST00000245907.6 - 21 2762_2763 c.2670_2671insC c.(2668-2673)ccagtcfs p.V891fs NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 891 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 breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) AACGAGGACTTGGGGGGGATGG 0.574 13 522 --- --- --- --- EMR1 2015 broad.mit.edu 37 19 6919686 6919687 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:6919686_6919687insG ENST00000312053.4 + 13 1585_1586 c.1548_1549insG c.(1546-1551)gtggggfs p.VG516fs EMR1_ENST00000450315.3_Frame_Shift_Ins_p.VG339fs|EMR1_ENST00000381407.5_Frame_Shift_Ins_p.VG375fs|EMR1_ENST00000381404.4_Frame_Shift_Ins_p.VG464fs|EMR1_ENST00000250572.8_Frame_Shift_Ins_p.VG516fs NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 516 Ser/Thr-rich. cell adhesion|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8) 62 all_hematologic(4;0.166) CTCGAGTCGTTGGGGGCATAAT 0.465 9 1333 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9064309 9064310 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:9064309_9064310insG ENST00000397910.4 - 3 23339_23340 c.23136_23137insC c.(23134-23139)ccctccfs p.S7713fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7715 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGAAGGGGAGAGGGGGGGATAT 0.530 21 502 --- --- --- --- DNMT1 1786 broad.mit.edu 37 19 10291083 10291084 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:10291083_10291084insG ENST00000340748.4 - 4 622_623 c.387_388insC c.(385-390)ccaaccfs p.T130fs DNMT1_ENST00000540357.1_Frame_Shift_Ins_p.T130fs|DNMT1_ENST00000359526.4_Frame_Shift_Ins_p.T130fs P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 130 Interaction with DNMT3A.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) GAAAGGGGTTTGGGGGGGCTGT 0.495 13 267 --- --- --- --- TMED1 11018 broad.mit.edu 37 19 10946787 10946788 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:10946787_10946788insG ENST00000214869.2 - 1 178_179 c.80_81insC c.(79-81)cccfs p.P27fs TMED1_ENST00000591695.1_Frame_Shift_Ins_p.P27fs NM_006858.2 NP_006849.1 Q13445 TMED1_HUMAN transmembrane emp24 protein transport domain containing 1 27 cell-cell signaling|signal transduction|transport integral to membrane|plasma membrane receptor binding breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1) 10 CCTGGATTGGCGGGGGCCCCGC 0.673 2 4 --- --- --- --- ZNF878 729747 broad.mit.edu 37 19 12155708 12155709 + Frame_Shift_Ins INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:12155708_12155709insT ENST00000602107.1 - 5 647_648 c.648_649insA c.(646-651)aacctafs p.NL216fs ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 169 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 CATTCATAGGGTTTTTTTGCAG 0.411 22 759 --- --- --- --- ZNF625 90589 broad.mit.edu 37 19 12256750 12256751 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:12256750_12256751insC ENST00000355738.1 - 4 631_632 c.282_283insG c.(280-285)ggaaccfs p.T95fs ZNF625_ENST00000542938.1_Frame_Shift_Ins_p.T95fs|ZNF625-ZNF20_ENST00000430024.1_Intron|ZNF625_ENST00000439556.2_Frame_Shift_Ins_p.T161fs|ZNF625_ENST00000455799.1_3'UTR Q96I27 ZN625_HUMAN zinc finger protein 625 95 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2) 14 TCATAAGGTTTCCCCCCAGTGT 0.421 7 516 --- --- --- --- ZNF563 147837 broad.mit.edu 37 19 12430217 12430217 + Frame_Shift_Del DEL A A - TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:12430217delA ENST00000293725.5 - 4 827 c.622delT c.(622-624)ggfs p.W208fs ZNF563_ENST00000595977.1_Intron NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 208 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 AAACTGGGCCAAAAAAAAGCT 0.393 7 354 --- --- --- --- TNPO2 30000 broad.mit.edu 37 19 12812575 12812576 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:12812575_12812576insC ENST00000425528.1 - 23 2858_2859 c.2501_2502insG c.(2500-2502)ggtfs p.G834fs TNPO2_ENST00000588216.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000450764.2_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000441499.1_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000356861.5_Frame_Shift_Ins_p.G824fs|TNPO2_ENST00000592287.1_Frame_Shift_Ins_p.G834fs O14787 TNPO2_HUMAN transportin 2 834 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CCTGCACAACGCCCCCCGGGTT 0.639 8 95 --- --- --- --- EMR3 84658 broad.mit.edu 37 19 14774330 14774331 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:14774330_14774331insG ENST00000253673.5 - 3 198_199 c.98_99insC c.(97-99)caafs p.Q33fs EMR3_ENST00000443157.2_Frame_Shift_Ins_p.Q33fs|EMR3_ENST00000599900.1_5'UTR|EMR3_ENST00000344373.4_Frame_Shift_Ins_p.Q33fs NM_032571.3 NP_115960.2 Q9BY15 EMR3_HUMAN egf-like module containing, mucin-like, hormone receptor-like 3 33 EGF-like 1. neuropeptide signaling pathway extracellular space|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 50 AGGAAGCATTTGGGGGGCACTT 0.485 7 268 --- --- --- --- AP1M1 8907 broad.mit.edu 37 19 16314383 16314384 + Frame_Shift_Ins INS - - G rs146546344 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:16314383_16314384insG ENST00000291439.3 + 2 605_606 c.156_157insG c.(154-159)caggggfs p.QG52fs AP1M1_ENST00000444449.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000429941.2_Frame_Shift_Ins_p.QG52fs|AP1M1_ENST00000541844.1_Intron|AP1M1_ENST00000590756.1_Intron NM_032493.3 NP_115882.1 Q9BXS5 AP1M1_HUMAN adaptor-related protein complex 1, mu 1 subunit 52 cellular membrane organization|endosome to melanosome transport|interspecies interaction between organisms|intracellular protein transport|melanosome organization|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane protein binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2) 21 TCCTGGCCCACGGGGGGGTCCG 0.594 7 180 --- --- --- --- NWD1 284434 broad.mit.edu 37 19 16860826 16860827 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:16860826_16860827insC ENST00000524140.2 + 6 1791_1792 c.1373_1374insC c.(1372-1374)tccfs p.S458fs NWD1_ENST00000552788.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000549814.1_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000523826.1_Frame_Shift_Ins_p.S252fs|NWD1_ENST00000379808.3_Frame_Shift_Ins_p.S458fs|NWD1_ENST00000339803.6_Frame_Shift_Ins_p.S323fs NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 458 NACHT. ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCTCTCAACTGCCCCCCGAGGG 0.629 7 228 --- --- --- --- TSHZ3 57616 broad.mit.edu 37 19 31769061 31769062 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:31769061_31769062insC ENST00000240587.4 - 2 1964_1965 c.1637_1638insG c.(1636-1638)gtafs p.V546fs NM_020856.2 NP_065907.2 Q63HK5 TSH3_HUMAN teashirt zinc finger homeobox 3 546 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5) 123 Esophageal squamous(110;0.226) TGCTGGGATAGCCCCCCCAGCT 0.559 35 328 --- --- --- --- CD22 933 broad.mit.edu 37 19 35832248 35832249 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:35832248_35832249insC ENST00000085219.5 + 8 1576_1577 c.1510_1511insC c.(1510-1512)cccfs p.P504fs CD22_ENST00000536635.2_Frame_Shift_Ins_p.P416fs|CD22_ENST00000594250.1_Frame_Shift_Ins_p.P327fs|CD22_ENST00000544992.2_Frame_Shift_Ins_p.P504fs|CD22_ENST00000341773.6_Frame_Shift_Ins_p.P327fs|CD22_ENST00000419549.2_Frame_Shift_Ins_p.P332fs|CD22_ENST00000270311.6_Frame_Shift_Ins_p.P384fs NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 504 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) CCCTCCAGATGCCCCCCGAGAC 0.619 7 187 --- --- --- --- FBL 2091 broad.mit.edu 37 19 40325192 40325193 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:40325192_40325193insG ENST00000221801.3 - 9 1064_1065 c.951_952insC c.(949-954)ccaggtfs p.G318fs FBL_ENST00000593503.1_5'UTR NM_001436.3 NP_001427.2 P22087 FBRL_HUMAN fibrillarin 318 rRNA processing|tRNA processing box C/D snoRNP complex|Cajal body methyltransferase activity|protein binding|RNA binding endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1) 9 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Renal(1328;0.000518)|Hepatocellular(1079;0.0893) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138) TTCTTCACCTTGGGGGGTGGCC 0.505 13 430 --- --- --- --- PSMC4 5704 broad.mit.edu 37 19 40480653 40480654 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:40480653_40480654insC ENST00000157812.2 + 6 789_790 c.591_592insC c.(589-594)gaccccfs p.DP197fs PSMC4_ENST00000455878.2_Frame_Shift_Ins_p.DP166fs NM_006503.3|NM_153001.2 NP_006494.1|NP_694546.1 P43686 PRS6B_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 4 197 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1) 19 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) TCGGCATCGATCCCCCCCGAGG 0.614 7 138 --- --- --- --- CEACAM5 1048 broad.mit.edu 37 19 42224865 42224866 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:42224865_42224866insC ENST00000221992.6 + 8 1909_1910 c.1795_1796insC c.(1795-1797)cccfs p.P599fs CEACAM5_ENST00000398599.4_Frame_Shift_Ins_p.P598fs|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000405816.1_Frame_Shift_Ins_p.P599fs NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 599 Ig-like 7. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) CCCCATCATTTCCCCCCCAGAC 0.545 18 438 --- --- --- --- POU2F2 5452 broad.mit.edu 37 19 42621520 42621521 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:42621520_42621521insG ENST00000560398.1 - 5 257_258 c.250_251insC c.(250-252)gatfs p.D84fs POU2F2_ENST00000533720.1_Splice_Site|POU2F2_ENST00000389341.5_Splice_Site|POU2F2_ENST00000342301.4_Splice_Site|POU2F2_ENST00000529952.1_Splice_Site|POU2F2_ENST00000529067.1_Splice_Site|POU2F2_ENST00000526816.2_Splice_Site|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000524801.2_Splice_Site P09086 PO2F2_HUMAN POU class 2 homeobox 2 62 humoral immune response|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(69;0.059) AGCCTTGATCTGGGGGGGAGAG 0.634 21 419 --- --- --- --- MEGF8 1954 broad.mit.edu 37 19 42866542 42866543 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:42866542_42866543insC ENST00000334370.4 + 33 6285_6286 c.5650_5651insC c.(5650-5652)cccfs p.P1884fs MEGF8_ENST00000251268.6_Frame_Shift_Ins_p.P1951fs NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1951 PSI 4. integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CCAGGCGTCCACCCCCCGCTGT 0.614 7 292 --- --- --- --- MARK4 57787 broad.mit.edu 37 19 45805663 45805664 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:45805663_45805664insC ENST00000300843.4 + 18 2331_2332 c.2034_2035insC c.(2032-2037)ccccccfs p.PP678fs MARK4_ENST00000262891.4_Frame_Shift_Ins_p.P652fs NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 0 microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) AACGGAAACCGCCCCCCGGCTG 0.639 7 543 --- --- --- --- CARD8 22900 broad.mit.edu 37 19 48737669 48737670 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:48737669_48737670insC ENST00000391898.3 - 3 382_383 c.340_341insG c.(340-342)catfs p.H114fs CARD8_ENST00000357778.5_5'UTR|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs NM_001184900.1 NP_001171829.1 Q9Y2G2 CARD8_HUMAN caspase recruitment domain family, member 8 0 negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion cytoplasm|nucleus caspase activator activity|NACHT domain binding|protein homodimerization activity endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1) 15 all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184) OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336) CCTGGGAATGTCCCCCCCAGAT 0.436 16 313 --- --- --- --- LMTK3 114783 broad.mit.edu 37 19 48994757 48994758 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:48994757_48994758insG ENST00000600059.1 - 13 4358_4359 c.4131_4132insC c.(4129-4134)ccagggfs p.G1378fs LMTK3_ENST00000270238.3_Frame_Shift_Ins_p.G1407fs lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GTGTCCCCCTCGGGGGGGGCCT 0.658 7 21 --- --- --- --- FAM83E 54854 broad.mit.edu 37 19 49107037 49107038 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:49107037_49107038insG ENST00000263266.3 - 4 1078_1079 c.889_890insC c.(889-891)gaafs p.E297fs NM_017708.3 NP_060178.2 Q2M2I3 FA83E_HUMAN family with sequence similarity 83, member E 297 NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2) 10 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158) CGAGGGTTTCTGGGGGGGCGCA 0.723 8 55 --- --- --- --- PLEKHA4 57664 broad.mit.edu 37 19 49364680 49364681 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:49364680_49364681insG ENST00000263265.6 - 5 898_899 c.343_344insC c.(343-345)aggfs p.R115fs PLEKHA4_ENST00000355496.5_Frame_Shift_Ins_p.R115fs NM_020904.2 NP_065955.2 Q9H4M7 PKHA4_HUMAN pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 115 PH. cytoplasm|membrane 1-phosphatidylinositol binding p.R115R(1) NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 30 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364) GCGCCGCCCTCGGGGGGCTCCC 0.604 8 363 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243063 50243064 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:50243063_50243064insG ENST00000246801.3 - 11 1830_1831 c.1748_1749insC c.(1747-1749)caafs p.Q583fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 583 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CCCCCTGTTTTGGGGGGGTTCC 0.545 29 513 --- --- --- --- TSKS 60385 broad.mit.edu 37 19 50243087 50243088 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:50243087_50243088insC ENST00000246801.3 - 11 1806_1807 c.1724_1725insG c.(1723-1725)gggfs p.G575fs TSKS_ENST00000358830.3_Frame_Shift_Ins_p.G375fs NM_021733.1 NP_068379.1 Q9UJT2 TSKS_HUMAN testis-specific serine kinase substrate 575 protein binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3) 38 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145) CACTGCTGCCTCCCCCCATTGT 0.554 7 596 --- --- --- --- SHANK1 50944 broad.mit.edu 37 19 51192459 51192460 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:51192459_51192460insC ENST00000293441.1 - 15 2059_2060 c.2041_2042insG c.(2041-2043)caafs p.Q681fs SHANK1_ENST00000359082.3_Frame_Shift_Ins_p.Q672fs|SHANK1_ENST00000391814.1_Frame_Shift_Ins_p.Q681fs|SHANK1_ENST00000391813.1_Frame_Shift_Ins_p.Q68fs NM_016148.2 NP_057232.2 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 681 PDZ. cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding p.A681S(1) breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 64 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) CTCACCCTTGGCCCCCCGGAGC 0.609 10 408 --- --- --- --- GPR32 2854 broad.mit.edu 37 19 51274914 51274915 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:51274914_51274915insC ENST00000270590.4 + 1 1194_1195 c.1057_1058insC c.(1057-1059)cccfs p.P353fs NM_001506.1 NP_001497.1 O75388 GPR32_HUMAN G protein-coupled receptor 32 353 integral to plasma membrane N-formyl peptide receptor activity breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028) CCGTGGCAACGCCCCCCGGGAA 0.525 7 253 --- --- --- --- KLK1 3816 broad.mit.edu 37 19 51326962 51326963 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:51326962_51326963insC ENST00000301420.2 - 1 77_78 c.42_43insG c.(40-45)ggctggfs p.W15fs KLK1_ENST00000448701.2_5'UTR NM_002257.2 NP_002248.1 P06870 KLK1_HUMAN kallikrein 1 15 proteolysis nucleus serine-type endopeptidase activity breast(1)|large_intestine(4)|lung(7)|urinary_tract(1) 13 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTCTCACCAGTCCCCCCCAGGG 0.653 22 368 --- --- --- --- ZNF175 7728 broad.mit.edu 37 19 52090436 52090437 + Frame_Shift_Ins INS - - G rs138396190 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:52090436_52090437insG ENST00000262259.2 + 5 1210_1211 c.852_853insG c.(850-855)tgggggfs p.WG284fs ZNF175_ENST00000436511.2_Intron NM_007147.2 NP_009078.1 Q9Y473 ZN175_HUMAN zinc finger protein 175 284 response to virus cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0299) GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257) GTTCTGAATGTGGGGGGAGCTT 0.441 11 717 --- --- --- --- ZNF649 65251 broad.mit.edu 37 19 52394013 52394014 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:52394013_52394014insC ENST00000354957.3 - 5 1659_1660 c.1375_1376insG c.(1375-1377)ttcfs p.F459fs ZNF649_ENST00000600738.1_Frame_Shift_Ins_p.F431fs|CTC-429C10.2_ENST00000600329.1_RNA NM_023074.3 NP_075562.2 Q9BS31 ZN649_HUMAN zinc finger protein 649 459 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 29 all_neural(266;0.0602) GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185) CTTCACTGAATCCCCCCGTTTC 0.450 7 1065 --- --- --- --- CNOT3 4849 broad.mit.edu 37 19 54649666 54649667 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr19:54649666_54649667insC ENST00000406403.1 + 8 2327_2328 c.724_725insC c.(724-726)cccfs p.P242fs CNOT3_ENST00000358389.3_Frame_Shift_Ins_p.P61fs|CNOT3_ENST00000221232.5_Frame_Shift_Ins_p.P242fs O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 242 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GGTCGCCACCTCCCCTCCCAGC 0.644 12 169 --- --- --- --- FASTKD5 60493 broad.mit.edu 37 20 3128000 3128001 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:3128000_3128001insC ENST00000380266.3 - 2 2037_2038 c.1716_1717insG c.(1714-1719)ggcccafs p.GP572fs UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron|UBOX5-AS1_ENST00000446537.1_RNA NM_021826.4 NP_068598.1 Q7L8L6 FAKD5_HUMAN FAST kinase domains 5 572 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 ACGTACTGGGGCCCCCCCAGCA 0.436 11 192 --- --- --- --- CST4 1472 broad.mit.edu 37 20 23667825 23667826 + Frame_Shift_Ins INS - - C rs140501583 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:23667825_23667826insC ENST00000217423.3 - 2 311_312 c.241_242insG c.(241-243)gaafs p.E81fs NM_001899.2 NP_001890.1 P01036 CYTS_HUMAN cystatin S 81 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 16 Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169) GAAGTAATTCACCCCCCCAAAG 0.554 24 405 --- --- --- --- TM9SF4 9777 broad.mit.edu 37 20 30737490 30737491 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:30737490_30737491insC ENST00000217315.5 + 10 1297_1298 c.957_958insC c.(955-960)agccccfs p.SP319fs TM9SF4_ENST00000398022.2_Frame_Shift_Ins_p.SP336fs Q92544 TM9S4_HUMAN transmembrane 9 superfamily protein member 4 336 integral to membrane central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) ACGTCTTCAGGCCCCCCCAGTA 0.604 10 140 --- --- --- --- RALGAPB 57148 broad.mit.edu 37 20 37146232 37146233 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:37146232_37146233insC ENST00000262879.6 + 8 1419_1420 c.1135_1136insC c.(1135-1137)cccfs p.P379fs RALGAPB_ENST00000397038.1_Frame_Shift_Ins_p.P157fs|RALGAPB_ENST00000397040.1_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000397042.3_Frame_Shift_Ins_p.P379fs|RALGAPB_ENST00000537204.1_Frame_Shift_Ins_p.P379fs Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 379 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity p.H382fs*2(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 TGTCAGTACCACCCCCCCACAT 0.446 11 227 --- --- --- --- SLPI 6590 broad.mit.edu 37 20 43881730 43881731 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:43881730_43881731insG ENST00000338380.2 - 3 326_327 c.306_307insC c.(304-309)ccatttfs p.F103fs NM_003064.2 NP_003055.1 P03973 SLPI_HUMAN secretory leukocyte peptidase inhibitor 103 Elastase inhibitory domain.|WAP 2. extracellular region serine-type endopeptidase inhibitor activity lung(3)|ovary(1) 4 Myeloproliferative disorder(115;0.0122) TCACAGAAATTGGGGGGGTTAA 0.535 14 375 --- --- --- --- RBPJL 11317 broad.mit.edu 37 20 43940237 43940238 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:43940237_43940238insC ENST00000343694.3 + 4 338_339 c.266_267insC c.(265-267)tccfs p.S89fs RBPJL_ENST00000372741.3_Frame_Shift_Ins_p.S89fs|RBPJL_ENST00000372743.1_Frame_Shift_Ins_p.S89fs NM_014276.2 NP_055091.2 Q9UBG7 RBPJL_HUMAN recombination signal binding protein for immunoglobulin kappa J region-like 89 signal transduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Myeloproliferative disorder(115;0.0122) AGGTTCTTCTGCCCCCCGCCCT 0.604 OREG0025979 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 216 --- --- --- --- SLC13A3 64849 broad.mit.edu 37 20 45194969 45194970 + Frame_Shift_Ins INS - - G rs149123701 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr20:45194969_45194970insG ENST00000279027.4 - 11 1410_1411 c.1392_1393insC c.(1390-1395)ccccctfs p.PP464fs SLC13A3_ENST00000435032.1_Frame_Shift_Ins_p.PP49fs|SLC13A3_ENST00000413164.2_Frame_Shift_Ins_p.PP414fs|SLC13A3_ENST00000495082.1_Frame_Shift_Ins_p.PP417fs|SLC13A3_ENST00000396360.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000472148.1_Frame_Shift_Ins_p.PP382fs|SLC13A3_ENST00000290317.5_Frame_Shift_Ins_p.PP417fs NM_001193342.1|NM_022829.5 NP_001180271.1|NP_073740.2 Q8WWT9 S13A3_HUMAN solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 464 integral to membrane|plasma membrane high affinity sodium:dicarboxylate symporter activity p.P464P(1) breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Myeloproliferative disorder(115;0.0122) Succinic acid(DB00139) ACAGCCAGGGCGGGGGGCACAT 0.604 7 475 --- --- --- --- DSCAM 1826 broad.mit.edu 37 21 41514614 41514615 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr21:41514614_41514615insG ENST00000400454.1 - 18 3753_3754 c.3276_3277insC c.(3274-3279)ccaaaafs p.PK1092fs NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 1092 Fibronectin type-III 3. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding p.E1093K(1) NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) TGGACATTTTCGGGGGGGTAAC 0.406 18 496 --- --- --- --- TSPEAR 54084 broad.mit.edu 37 21 45987772 45987773 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr21:45987772_45987773insG ENST00000323084.4 - 2 264_265 c.199_200insC c.(199-201)cacfs p.H67fs TSPEAR_ENST00000397916.1_5'UTR NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 67 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 GCTCATGGTGCGGGGGGCGGCT 0.564 8 182 --- --- --- --- MCM3AP 8888 broad.mit.edu 37 21 47663396 47663397 + Frame_Shift_Ins INS - - G rs34589822 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr21:47663396_47663397insG ENST00000397708.1 - 25 5532_5533 c.5278_5279insC c.(5278-5280)gctfs p.A1760fs MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Frame_Shift_Ins_p.A1760fs O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1760 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AACAGGAAGCCGGGGGGGCGTC 0.525 15 331 --- --- --- --- CECR1 51816 broad.mit.edu 37 22 17662759 17662760 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:17662759_17662760insC ENST00000399839.1 - 9 1662_1663 c.1392_1393insG c.(1390-1395)ggtgaafs p.E465fs CECR1_ENST00000399837.2_Frame_Shift_Ins_p.E465fs|CECR1_ENST00000449907.2_Frame_Shift_Ins_p.E423fs|CECR1_ENST00000330232.4_Frame_Shift_Ins_p.E224fs|CECR1_ENST00000262607.3_Frame_Shift_Ins_p.E465fs Q9NZK5 CECR1_HUMAN cat eye syndrome chromosome region, candidate 1 465 adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process extracellular space|Golgi apparatus adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 25 all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106) TCAGCCTTCATCCCCCCAATGC 0.564 7 423 --- --- --- --- P2RX6P 440799 broad.mit.edu 37 22 21399220 21399221 + RNA INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:21399220_21399221insC ENST00000439119.1 - 0 51 NR_002829.1 TCTGCAGGGCGCCCCCCCACCA 0.599 17 369 --- --- --- --- ZNF280A 129025 broad.mit.edu 37 22 22869526 22869527 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:22869526_22869527insG ENST00000302097.3 - 2 680_681 c.428_429insC c.(427-429)cggfs p.R143fs NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 143 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) ACTGAGTCCCTGGGGGGAGCGA 0.455 9 368 --- --- --- --- GNAZ 2781 broad.mit.edu 37 22 23438487 23438488 + Frame_Shift_Ins INS - - G TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:23438487_23438488insG ENST00000248996.4 + 2 1271_1272 c.605_606insG c.(604-606)gggfs p.G202fs RTDR1_ENST00000216036.4_Intron NM_002073.2 NP_002064.1 P19086 GNAZ_HUMAN guanine nucleotide binding protein (G protein), alpha z polypeptide 202 endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1) 19 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.166) ATGGTGGACGTGGGGGGGCAGA 0.574 8 84 --- --- --- --- SEZ6L 23544 broad.mit.edu 37 22 26688484 26688485 + Frame_Shift_Ins INS - - C rs145637105 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:26688484_26688485insC ENST00000529632.2 + 2 403_404 c.207_208insC c.(205-210)gcccccfs p.AP69fs SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.AP69fs|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.AP69fs|SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.AP69fs|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.AP69fs NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 69 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 TGGTAACAGCGCCCCCCAGTTC 0.634 7 191 --- --- --- --- GTPBP1 9567 broad.mit.edu 37 22 39122087 39122088 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:39122087_39122088insC ENST00000216044.5 + 7 1383_1384 c.1150_1151insC c.(1150-1152)cccfs p.P384fs GTPBP1_ENST00000460605.1_3'UTR NM_004286.4 NP_004277.2 O00178 GTPB1_HUMAN GTP binding protein 1 384 immune response|positive regulation of mRNA catabolic process|signal transduction cytoplasmic exosome (RNase complex)|cytosol GTP binding|GTPase activity endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 18 Melanoma(58;0.04) CAACCTCCTCTCCCCCCGCACC 0.569 10 408 --- --- --- --- TNRC6B 23112 broad.mit.edu 37 22 40681766 40681767 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:40681766_40681767insC ENST00000454349.2 + 12 3911_3912 c.3700_3701insC c.(3700-3702)cccfs p.P1234fs TNRC6B_ENST00000301923.9_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000497559.1_3'UTR|TNRC6B_ENST00000402203.1_Frame_Shift_Ins_p.P430fs|TNRC6B_ENST00000335727.8_Frame_Shift_Ins_p.P1124fs NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 1234 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 CCAGTTTATTTCCCCCCAGGTA 0.450 11 775 --- --- --- --- EP300 2033 broad.mit.edu 37 22 41574678 41574679 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:41574678_41574679insC ENST00000263253.7 + 31 8182_8183 c.6963_6964insC c.(6961-6966)caccccfs p.HP2321fs RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 2321 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 CACAGTCCCAGCCCCCCCACTC 0.609 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 14 220 --- --- --- --- SREBF2 6721 broad.mit.edu 37 22 42271636 42271637 + Frame_Shift_Ins INS - - C rs79727196 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:42271636_42271637insC ENST00000361204.4 + 7 1460_1461 c.1294_1295insC c.(1294-1296)cccfs p.P432fs NM_004599.2 NP_004590.2 Q12772 SRBP2_HUMAN sterol regulatory element binding transcription factor 2 432 Interaction with LMNA (By similarity). cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 CCTTCTGATGTCCCCCCCAGCC 0.520 15 260 --- --- --- --- CYP2D6 1565 broad.mit.edu 37 22 42524213 42524214 + Frame_Shift_Ins INS - - G rs72549352 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:42524213_42524214insG ENST00000360608.5 - 5 919_920 c.805_806insC c.(805-807)agafs p.R269fs NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000359033.4_Frame_Shift_Ins_p.R218fs|NDUFA6-AS1_ENST00000416037.1_RNA|CYP2D6_ENST00000389970.3_Frame_Shift_Ins_p.R269fs NM_000106.5 NP_000097.3 Q6NWU0 Q6NWU0_HUMAN cytochrome P450, family 2, subfamily D, polypeptide 6 269 electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 AGTCAGGTCTCGGGGGGGCTGG 0.629 7 78 --- --- --- --- TCF20 6942 broad.mit.edu 37 22 42610947 42610948 + Frame_Shift_Ins INS - - G rs138734341 TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:42610947_42610948insG ENST00000359486.3 - 1 500_501 c.364_365insC c.(364-366)gggfs p.G122fs TCF20_ENST00000335626.4_Frame_Shift_Ins_p.G122fs NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 122 Q -> R (in Ref. 1). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCTGCTCCCCTGGGGGGGTCCA 0.564 30 889 --- --- --- --- TBC1D22A 25771 broad.mit.edu 37 22 47188443 47188444 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr22:47188443_47188444insC ENST00000337137.4 + 2 255_256 c.89_90insC c.(88-90)cccfs p.P30fs TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_5'UTR|TBC1D22A_ENST00000355704.3_Intron NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 30 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGTGCCCAGCACCCCCCCTTTG 0.569 14 281 --- --- --- --- SSX9 280660 broad.mit.edu 37 X 48159107 48159108 + Frame_Shift_Ins INS - - G rs41305745 by1000genomes TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chrX:48159107_48159108insG ENST00000376909.1 - 6 487_488 c.425_426insC c.(424-426)cggfs p.R142fs SSX9_ENST00000407081.2_Frame_Shift_Ins_p.R142fs breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1) 8 TTGGTTTTCCCGGGGGGCACAG 0.490 7 567 --- --- --- --- SSX3 10214 broad.mit.edu 37 X 48209462 48209463 + Frame_Shift_Ins INS - - G rs6651589 byFrequency TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chrX:48209462_48209463insG ENST00000298396.2 - 6 477_478 c.425_426insC c.(424-426)cggfs p.R142fs SSX3_ENST00000376893.3_Frame_Shift_Ins_p.R142fs|SSX3_ENST00000376895.1_Frame_Shift_Ins_p.R54fs NM_021014.2 NP_066294.1 Q99909 SSX3_HUMAN synovial sarcoma, X breakpoint 3 142 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding p.P142Q(2) endometrium(3)|large_intestine(1)|lung(9) 13 TTGGTTTTCCCGGGGGGCACAG 0.495 10 466 --- --- --- --- TSIX 9383 broad.mit.edu 37 X 73043501 73043502 + RNA INS - - T TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chrX:73043501_73043502insT ENST00000604411.1 + 0 31462_31463 XIST_ENST00000429829.1_lincRNA NR_003255.2 ACAACACCTTGTTTTTTGCAAA 0.391 7 433 --- --- --- --- ZNF449 203523 broad.mit.edu 37 X 134494267 134494268 + Frame_Shift_Ins INS - - C TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chrX:134494267_134494268insC ENST00000339249.4 + 5 963_964 c.823_824insC c.(823-825)cccfs p.P275fs NM_152695.5 NP_689908.3 Q6P9G9 ZN449_HUMAN zinc finger protein 449 275 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) TCAATGGGAAACCCCCCCAGAG 0.436 7 161 --- --- --- --- MCF2 4168 broad.mit.edu 37 X 138697051 138697052 + Frame_Shift_Ins INS - - A TCGA-AK-3465-01A-01W-0886-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx 12b8a067-6ffb-4d17-8f3b-efaeecd1cf57 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chrX:138697051_138697052insA ENST00000520602.1 - 13 1816_1817 c.1531_1532insT c.(1531-1533)atcfs p.I511fs MCF2_ENST00000370573.4_Frame_Shift_Ins_p.I451fs|MCF2_ENST00000338585.6_Frame_Shift_Ins_p.I451fs|MCF2_ENST00000370576.4_Frame_Shift_Ins_p.I451fs|MCF2_ENST00000370578.4_Frame_Shift_Ins_p.I596fs|MCF2_ENST00000519895.1_Frame_Shift_Ins_p.I511fs|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Frame_Shift_Ins_p.I412fs|MCF2_ENST00000414978.1_Frame_Shift_Ins_p.I511fs P10911 MCF2_HUMAN MCF.2 cell line derived transforming sequence 451 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytoskeleton|cytosol|membrane|membrane fraction protein binding|Rho guanyl-nucleotide exchange factor activity NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1) 62 Acute lymphoblastic leukemia(192;0.000127) TTGTTTAGATGAAAAAAATGGT 0.371 7 524 --- --- --- --- RP11-231C18.1 0 broad.mit.edu 37 4 55201143 55201144 + RNA INS - - TTT TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr4:55201143_55201144insTTT ENST00000511634.1 + 0 43 ctccttccctcccttccttcct 0.490 3 5 --- --- --- --- FNIP1 96459 broad.mit.edu 37 5 131013435 131013435 + Frame_Shift_Del DEL C C - TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr5:131013435delC ENST00000307968.7 - 12 1395 c.1396delG c.(1396-1398)cafs p.A466fs FNIP1_ENST00000510461.1_Frame_Shift_Del_p.A494fs|FNIP1_ENST00000511848.1_Frame_Shift_Del_p.A494fs|FNIP1_ENST00000514667.1_Intron|FNIP1_ENST00000307954.8_Frame_Shift_Del_p.A449fs NM_001008738.2 NP_001008738.2 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TGAGTCTTTGCCAACATGTCC 0.383 105 190 --- --- --- --- LRRC14 9684 broad.mit.edu 37 8 145746499 145746502 + Frame_Shift_Del DEL TGAG TGAG - TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr8:145746499_145746502delTGAG ENST00000292524.1 + 4 1265_1268 c.1119_1122delTGAG c.(1117-1122)acfs p.TE373fs LRRC14_ENST00000529022.1_Frame_Shift_Del_p.TE373fs NM_001272036.1|NM_014665.2 NP_001258965.1|NP_055480.1 Q15048 LRC14_HUMAN leucine rich repeat containing 14 373 endometrium(1)|lung(3)|prostate(1) 5 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) TGGAGCTGACTGAGTGTCAGCTCG 0.593 51 105 --- --- --- --- CCDC176 80127 broad.mit.edu 37 14 74514756 74514760 + Frame_Shift_Del DEL TACTT TACTT - TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr14:74514756_74514760delTACTT ENST00000394009.3 + 7 894_898 c.771_775delTACTT c.(769-777)catafs p.HTL257fs CCDC176_ENST00000553773.1_5'UTR|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000489323.1_3'UTR NM_025057.2 NP_079333.2 coiled-coil domain containing 176 AAGAGAGTCATACTTTACTTTTACA 0.341 37 70 --- --- --- --- RP11-519G16.3 0 broad.mit.edu 37 15 45756158 45756158 + RNA DEL T T - rs143709087 TCGA-AK-3465-01A-01D-0966-08 TCGA-AK-3465-10A-01D-0966-08 Untested Somatic Phase_I WXS none Illumina GAIIx c54f90a1-01c2-4cde-959e-bf3219673495 2ee3db04-cb72-4a8a-a66a-bd5784f1e01f g.chr15:45756158delT ENST00000560077.1 + 0 41 RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA accaccaccatcaccatcacc 0.567 2 4 --- --- --- ---