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 SYNPO2 171024 broad.mit.edu 37 4 119952972 119952972 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:119952972C>T ENST00000307142.4 + 4 3238 c.3042C>T c.(3040-3042)gcC>gcT p.A1014A SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Silent_p.A1014A|SYNPO2_ENST00000434046.2_Silent_p.A1014A NM_133477.2 NP_597734.2 Q9UMS6 SYNP2_HUMAN synaptopodin 2 1014 nucleus|Z disc 14-3-3 protein binding|actin binding|muscle alpha-actinin binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 TGAATGCTGCCTCACCTACGA 0.562000 8 65 0 0 0.003080 0 0 KIAA0947 23379 broad.mit.edu 37 5 5463331 5463331 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:5463331C>T ENST00000296564.7 + 13 4106 c.3884C>T c.(3883-3885)aCc>aTc p.T1295I NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 1295 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 AACAACATGACCACTGAGAAT 0.408000 5 11 0 0 0.001168 0 0 CD244 51744 broad.mit.edu 37 1 160832413 160832413 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:160832413C>T ENST00000368034.4 - 1 232 c.55G>A c.(55-57)Ggc>Agc p.G19S CD244_ENST00000368032.2_Missense_Mutation_p.G19S|CD244_ENST00000322302.7_Missense_Mutation_p.G19S|CD244_ENST00000368033.3_Missense_Mutation_p.G19S NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 19 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TTACCTTTGCCCTGATACACC 0.622000 5 43 0 0 0.001168 0 0 MOXD1 26002 broad.mit.edu 37 6 132645187 132645187 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:132645187C>T ENST00000367963.3 - 7 1114 c.996G>A c.(994-996)agG>agA p.R332R MOXD1_ENST00000489128.1_5'UTR|MOXD1_ENST00000336749.3_Silent_p.R264R NM_015529.2 NP_056344.2 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 332 catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1) 37 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) CATCATATTTCCTTATATCCA 0.418000 10 35 0 0 0.000673 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423747 107423747 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:107423747C>T ENST00000340010.5 - 9 1206 c.1022G>A c.(1021-1023)gGa>gAa p.G341E SLC26A3_ENST00000422236.2_Missense_Mutation_p.G306E NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 341 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 GAAGCAATCTCCTACGGTGTT 0.423000 10 36 0 0 0.000673 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716235 13716235 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13716235C>T ENST00000279593.3 - 13 4146 c.3937G>A c.(3937-3939)Gaa>Aaa p.E1313K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1313 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 p.E1313K(1) 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) GCGGCTTCTTCCTTCTGCAGG 0.587000 25 92 0 0 0.004656 0 0 LIMK2 3985 broad.mit.edu 37 22 31662023 31662023 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:31662023C>T ENST00000331728.4 + 8 1060 c.946C>T c.(946-948)Cgt>Tgt p.R316C LIMK2_ENST00000406516.1_Missense_Mutation_p.R238C|LIMK2_ENST00000340552.4_Missense_Mutation_p.R295C|LIMK2_ENST00000333611.4_Missense_Mutation_p.R295C|LIMK2_ENST00000444929.2_Missense_Mutation_p.R70C NM_005569.3 NP_005560.1 P53671 LIMK2_HUMAN LIM domain kinase 2 316 mitochondrion|nucleus ATP binding|protein serine/threonine kinase activity|zinc ion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1) 29 AGAATCCCTTCGTTGTTCCAG 0.577000 15 48 0 0 0.004990 0 0 IGHG2 3501 broad.mit.edu 37 14 106109828 106109828 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:106109828G>A ENST00000390545.2 - 0 692 CCCGGGATGGGGGCAGGGTGT 0.647000 27 128 0 0 0.004289 0 0 GPR110 266977 broad.mit.edu 37 6 46977388 46977388 + Missense_Mutation SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:46977388T>C ENST00000371253.2 - 11 1998 c.1783A>G c.(1783-1785)Atc>Gtc p.I595V GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.I398V NM_153840.2 NP_722582.2 Q5T601 GP110_HUMAN G protein-coupled receptor 110 595 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 29 CCAATGGAGATACCCAGTCCC 0.433000 23 42 0 0 0.002299 0 0 DOCK2 1794 broad.mit.edu 37 5 169506118 169506118 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:169506118G>A ENST00000256935.8 + 49 5214 c.5134G>A c.(5134-5136)Gag>Aag p.E1712K DOCK2_ENST00000520908.1_Missense_Mutation_p.E1204K|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.E773K NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1712 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TTTTGCGGATGAGAAAGCAGC 0.572000 12 39 0 0 0.002450 0 0 PCDHB1 29930 broad.mit.edu 37 5 140432608 140432608 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140432608G>A ENST00000306549.3 + 1 1630 c.1553G>A c.(1552-1554)aGa>aAa p.R518K NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 518 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TACGCGCTGAGAACCATGGAT 0.433000 6 33 0 0 0.001168 0 0 DMRTB1 63948 broad.mit.edu 37 1 53925162 53925162 + Silent SNP G G A rs150523807 byFrequency TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:53925162G>A ENST00000371445.3 + 1 91 c.36G>A c.(34-36)tcG>tcA p.S12S NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 12 sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity p.S12S(1) large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 CCAAGTGCTCGAGATGCAGGA 0.612000 7 30 0 0 0.004482 0 0 PNPLA5 150379 broad.mit.edu 37 22 44285393 44285393 + Missense_Mutation SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:44285393T>C ENST00000216177.4 - 4 650 c.518A>G c.(517-519)aAc>aGc p.N173S PNPLA5_ENST00000593866.1_Intron|PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000597664.1_Missense_Mutation_p.N173S NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 173 Patatin. lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GGGCAAGTTGTTGCTCAGAGC 0.632000 22 106 0 0 0.002299 0 0 MICALL2 79778 broad.mit.edu 37 7 1484390 1484390 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:1484390G>A ENST00000297508.7 - 6 1491 c.1316C>T c.(1315-1317)cCg>cTg p.P439L MICALL2_ENST00000405088.4_Missense_Mutation_p.P227L NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 439 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) AACAAGTGACGGGGTGGGACC 0.642000 4 20 0 0 0.001168 0 0 CUL9 23113 broad.mit.edu 37 6 43153909 43153909 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:43153909C>T ENST00000252050.4 + 4 1051 c.967C>T c.(967-969)Ctc>Ttc p.L323F CUL9_ENST00000372647.2_Missense_Mutation_p.L323F|CUL9_ENST00000354495.3_Missense_Mutation_p.L323F NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 323 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 GGCCCGGAACCTCAGCGAACA 0.607000 14 95 0 0 0.003163 0 0 POTEM 641455 broad.mit.edu 37 14 20019973 20019973 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:20019973G>A ENST00000551509.1 - 1 299 c.248C>T c.(247-249)tCt>tTt p.S83F NM_001145442.1 NP_001138914.1 A6NI47 POTEM_HUMAN POTE ankyrin domain family, member M 83 endometrium(4)|kidney(1)|lung(4) 9 GTGGTCTCCAGAAGTGCCCAC 0.592000 13 489 0 0 0.003954 0 0 CEP89 84902 broad.mit.edu 37 19 33450905 33450905 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:33450905G>A ENST00000305768.4 - 3 294 c.206C>T c.(205-207)cCt>cTt p.P69L CEP89_ENST00000590597.1_Missense_Mutation_p.P69L NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa 69 centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 GCGAGGCTGAGGAATAGCAAC 0.567000 7 40 0 0 0.001984 0 0 ERBB3 2065 broad.mit.edu 37 12 56495582 56495582 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:56495582G>A ENST00000267101.3 + 28 4212 c.3772G>A c.(3772-3774)Gaa>Aaa p.E1258K RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000549832.1_Missense_Mutation_p.E378K|ERBB3_ENST00000450146.2_Missense_Mutation_p.E615K|ERBB3_ENST00000415288.2_Missense_Mutation_p.E1199K|ERBB3_ENST00000553131.1_Missense_Mutation_p.E499K NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 1258 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) AACTCCAGATGAAGACTATGA 0.557000 15 54 0 0 0.004007 0 0 SERPINB11 89778 broad.mit.edu 37 18 61387272 61387272 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:61387272G>A ENST00000544088.1 + 0 563 SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA NM_080475.2 NP_536723.2 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1)|cervix(1)|kidney(1)|lung(3) 6 Esophageal squamous(42;0.129) TCTTTGGAAAGAGCACAATTG 0.328000 14 45 0 0 0.003163 0 0 AMBRA1 55626 broad.mit.edu 37 11 46564360 46564360 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:46564360G>A ENST00000458649.2 - 7 1625 c.1207C>T c.(1207-1209)Cct>Tct p.P403S AMBRA1_ENST00000528950.1_Missense_Mutation_p.P403S|AMBRA1_ENST00000298834.3_Missense_Mutation_p.P403S|AMBRA1_ENST00000426438.1_Missense_Mutation_p.P403S|AMBRA1_ENST00000314845.3_Missense_Mutation_p.P313S|AMBRA1_ENST00000533727.1_Missense_Mutation_p.P313S|AMBRA1_ENST00000534300.1_Missense_Mutation_p.P403S Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 403 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) TACCTAGAAGGGTGGCTAGAC 0.592000 17 55 0 0 0.000958 0 0 OR6K3 391114 broad.mit.edu 37 1 158687706 158687706 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:158687706G>A ENST00000368146.1 - 1 247 c.248C>T c.(247-249)tCc>tTc p.S83F OR6K3_ENST00000368145.1_Missense_Mutation_p.S67F Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 83 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S83F(1) NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CTCCAGAAAGGAAAATATACT 0.408000 26 75 0 0 0.003954 0 0 GPR98 84059 broad.mit.edu 37 5 90281229 90281229 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:90281229C>T ENST00000405460.2 + 85 18138 c.18042C>T c.(18040-18042)ttC>ttT p.F6014F GPR98_ENST00000425867.2_Silent_p.F1675F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6014 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGCTGTTTTTCCTTCTGAGTT 0.413000 8 27 0 0 0.003080 0 0 PTGS1 5742 broad.mit.edu 37 9 125148726 125148726 + Splice_Site SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:125148726G>A ENST00000362012.2 + 9 1016 c.1009_splice c.e9-1 p.G337_splice PTGS1_ENST00000540753.1_Splice_Site_p.G312_splice|PTGS1_ENST00000373698.5_Splice_Site_p.G228_splice|PTGS1_ENST00000223423.4_Splice_Site_p.G337_splice|AL162424.1_ENST00000600713.1_Intron NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 337 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) CCTGCCCAGGGGAGACCATCA 0.527000 26 87 0 0 0.003954 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125261928 125261928 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:125261928C>T ENST00000431078.1 + 8 1483 c.1119C>T c.(1117-1119)tcC>tcT p.S373S NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 373 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TTGTCAACTCCAGCGGCAGCT 0.463000 19 70 0 0 0.001216 0 0 NOX5 79400 broad.mit.edu 37 15 69347814 69347814 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:69347814C>T ENST00000260364.5 + 16 2387 c.2086C>T c.(2086-2088)Cag>Tag p.Q696* NOX5_ENST00000448182.3_Nonsense_Mutation_p.Q668*|NOX5_ENST00000388866.3_Nonsense_Mutation_p.Q714*|NOX5_ENST00000530406.2_Nonsense_Mutation_p.Q686*|NOX5_ENST00000455873.3_Nonsense_Mutation_p.Q679* Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 714 angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 GACGCGCACCCAGCCTGGGCG 0.607000 11 43 0 0 0.000978 0 0 GRM2 2912 broad.mit.edu 37 3 51751697 51751697 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:51751697C>T ENST00000395052.3 + 5 2643 c.2409C>T c.(2407-2409)tcC>tcT p.S803S GRM2_ENST00000442933.2_Silent_p.S525S|GRM2_ENST00000475478.1_3'UTR NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 803 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) TCAGCGGCTCCGTGGTGCTTG 0.627000 8 35 0 0 0.003080 0 0 CDSN 1041 broad.mit.edu 37 6 31084629 31084629 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:31084629C>T ENST00000376288.2 - 2 789 c.763G>A c.(763-765)Gtg>Atg p.V255M PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron NM_001264.4 NP_001255.3 Q15517 CDSN_HUMAN corneodesmosin 255 Ser-rich. cell-cell adhesion|keratinocyte differentiation|skin morphogenesis cornified envelope|desmosome|extracellular region protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1) 10 TCCACCACCACCACCACAGGC 0.652000 9 30 0 0 0.000443 0 0 HERC2P3 283755 broad.mit.edu 37 15 20649560 20649560 + RNA SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:20649560C>T ENST00000428453.1 - 0 2638 p.G650E(1) central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 GTCGTAATTTCCTTCTTTCCC 0.592000 23 283 0 0 0.003954 0 0 TRPM8 79054 broad.mit.edu 37 2 234847806 234847806 + Silent SNP C C T rs151205278 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:234847806C>T ENST00000324695.4 + 5 553 c.513C>T c.(511-513)atC>atT p.I171I TRPM8_ENST00000433712.2_5'UTR|TRPM8_ENST00000409625.1_Silent_p.I94I|TRPM8_ENST00000355722.4_Silent_p.I121I NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 171 integral to membrane p.I171I(1) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TCATCTACATCGCGCAGTCCA 0.592000 8 31 0 0 0.003080 0 0 PLEKHM3 389072 broad.mit.edu 37 2 208725947 208725947 + Missense_Mutation SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:208725947T>C ENST00000427836.2 - 7 2479 c.1990A>G c.(1990-1992)Att>Gtt p.I664V PLEKHM3_ENST00000389247.4_Missense_Mutation_p.I664V NM_001080475.2 NP_001073944.1 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, member 3 664 intracellular signal transduction metal ion binding central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 GCAAATTTAATGACCTTGCCC 0.448000 27 75 0 0 0.002096 0 0 USP54 159195 broad.mit.edu 37 10 75277230 75277230 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:75277230G>A ENST00000339859.4 - 19 3054 c.2954C>T c.(2953-2955)tCt>tTt p.S985F USP54_ENST00000394811.2_Missense_Mutation_p.S73F|RP11-137L10.6_ENST00000597958.1_RNA|USP54_ENST00000408019.1_Missense_Mutation_p.S985F|USP54_ENST00000422491.2_Missense_Mutation_p.S167F|USP54_ENST00000428547.1_Missense_Mutation_p.S835F|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000600206.1_RNA Q70EL1 UBP54_HUMAN ubiquitin specific peptidase 54 985 ubiquitin-dependent protein catabolic process protein binding|ubiquitin thiolesterase activity breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1) 30 Prostate(51;0.0112) ACTATGATGAGAATTCTTCTC 0.502000 6 39 0 0 0.001984 0 0 PACS1 55690 broad.mit.edu 37 11 65983685 65983685 + Silent SNP C C A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65983685C>A ENST00000320580.4 + 5 789 c.756C>A c.(754-756)tcC>tcA p.S252S NM_018026.3 NP_060496.2 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 252 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding RBM14/PACS1(2) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1) 37 AGATCTACTCCCTGTCCAGCC 0.517000 13 40 0.000151284 0.000318909 0.001855 1 0 NRAS 4893 broad.mit.edu 37 1 115256529 115256529 + Missense_Mutation SNP T T A rs11554290 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:115256529T>A ENST00000369535.4 - 3 435 c.182A>T c.(181-183)cAa>cTa p.Q61L NM_002524.4 NP_002515.1 P01111 RASN_HUMAN neuroblastoma RAS viral (v-ras) oncogene homolog 61 Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction Golgi membrane|plasma membrane GTP binding|GTPase activity p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1) NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13) 3085 all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211) all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTACTCTTCTTGTCCAGCTGT 0.458000 Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID) 50 Mis """melanoma, MM, AML, thyroid""" Noonan syndrome TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6) 21 112 0 0 0.001882 0 0 NRG1 3084 broad.mit.edu 37 8 32505269 32505269 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:32505269C>T ENST00000520502.2 + 1 33 c.33C>T c.(31-33)gtC>gtT p.V11V NRG1_ENST00000338921.4_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron|NRG1_ENST00000405005.2_Intron|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000521670.1_Intron|NRG1_ENST00000287840.5_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000523079.1_Intron NM_013959.3 NP_039253.1 Q02297 NRG1_HUMAN neuregulin 1 0 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) TGTCTGAGGTCGCCGCCGAGA 0.612000 10 42 0 0 0.001368 0 0 DPP6 1804 broad.mit.edu 37 7 154564580 154564580 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:154564580C>T ENST00000404039.1 + 10 1459 c.872C>T c.(871-873)tCc>tTc p.S291F DPP6_ENST00000427557.1_Missense_Mutation_p.S248F|DPP6_ENST00000377770.3_Missense_Mutation_p.S355F|DPP6_ENST00000332007.3_Missense_Mutation_p.S293F NM_001039350.1|NM_001936.3|NM_130797.2 NP_001034439.1|NP_001927.3|NP_570629.2 P42658 DPP6_HUMAN dipeptidyl-peptidase 6 355 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) CCCAGCATTTCCCTACACGTT 0.468000 6 25 0 0 0.001984 0 0 CEL 1056 broad.mit.edu 37 9 135946651 135946651 + Missense_Mutation SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:135946651T>G ENST00000372080.4 + 11 1787 c.1771T>G c.(1771-1773)Tcc>Gcc p.S591A CEL_ENST00000351304.7_Missense_Mutation_p.S522A NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 588 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) CACGGGTGACTCCGGGGCCCC 0.806000 3 26 0 0 0.000248 0 0 CA9 768 broad.mit.edu 37 9 35675789 35675789 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:35675789C>T ENST00000378357.4 + 3 569 c.465C>T c.(463-465)gcC>gcT p.A155A NM_001216.2 NP_001207.2 Q16790 CAH9_HUMAN carbonic anhydrase IX 155 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGTCCCCAGCCTGCGCGGGCC 0.692000 6 16 0 0 0.003080 0 0 SLC22A8 9376 broad.mit.edu 37 11 62763520 62763520 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:62763520C>T ENST00000336232.2 - 6 1001 c.866G>A c.(865-867)gGa>gAa p.G289E SLC22A8_ENST00000535878.1_Missense_Mutation_p.G166E|SLC22A8_ENST00000545207.1_Missense_Mutation_p.G198E|SLC22A8_ENST00000430500.2_Missense_Mutation_p.G289E|SLC22A8_ENST00000311438.8_Missense_Mutation_p.G289E NM_001184732.1|NM_001184736.1|NM_004254.3 NP_001171661.1|NP_001171665.1|NP_004245.2 Q8TCC7 S22A8_HUMAN solute carrier family 22 (organic anion transporter), member 8 289 response to toxin basolateral plasma membrane|integral to plasma membrane|membrane fraction inorganic anion exchanger activity|organic anion transmembrane transporter activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 GAGCCTTTCTCCCTCTTCCTT 0.582000 17 76 0 0 0.006122 0 0 MYOM1 8736 broad.mit.edu 37 18 3188908 3188908 + Silent SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:3188908T>C ENST00000400569.3 - 4 942 c.609A>G c.(607-609)acA>acG p.T203T MYOM1_ENST00000356443.4_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T P52179 MYOM1_HUMAN myomesin 1 203 6 X 6 AA tandem repeats. striated muscle myosin thick filament structural constituent of muscle p.T203T(1) NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GCTTGGATGCTGTGGACTGCT 0.532000 4 90 0 0 0.001168 0 0 SLC22A18 5002 broad.mit.edu 37 11 2946301 2946301 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:2946301C>T ENST00000380574.1 + 11 1580 c.1149C>T c.(1147-1149)gtC>gtT p.V383V SLC22A18_ENST00000312221.5_Silent_p.V383V|SLC22A18_ENST00000347936.2_Silent_p.V383V|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000449793.2_Silent_p.V285V Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 383 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) GACCCACGGTCGGCGGCCTCC 0.642000 102 467 0 0 0.003610 0 0 TRPM8 79054 broad.mit.edu 37 2 234915547 234915547 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:234915547G>A ENST00000324695.4 + 23 3221 c.3181G>A c.(3181-3183)Gaa>Aaa p.E1061K TRPM8_ENST00000433712.2_Missense_Mutation_p.E639K NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 1061 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) TGTCATGAAGGAAAACTACCT 0.413000 12 19 0 0 0.002450 0 0 RELA 5970 broad.mit.edu 37 11 65429188 65429188 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65429188G>A ENST00000525693.1 - 4 367 c.305C>T c.(304-306)gCt>gTt p.A102V RELA_ENST00000308639.9_Missense_Mutation_p.A102V|RELA_ENST00000406246.3_Missense_Mutation_p.A102V Q04206 TF65_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog A 102 RHD. anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|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 cytosol|transcription factor complex activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1) 19 GCAGAGCTCAGCCTCATAGAA 0.642000 12 68 0 0 0.001855 0 0 IGHG3 3502 broad.mit.edu 37 14 106236259 106236259 + RNA SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:106236259C>T ENST00000390551.2 - 0 544 TCCGGGAAATCATAAGGGTAT 0.592000 23 71 0 0 0.002299 0 0 ZHX2 22882 broad.mit.edu 37 8 123964360 123964360 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:123964360G>A ENST00000314393.4 + 3 1445 c.610G>A c.(610-612)Gag>Aag p.E204K NM_014943.3 NP_055758.1 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 204 Required for homodimerization. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 45 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CAAGAAGCCCGAGGAGATCAC 0.582000 26 203 0 0 0.001061 0 0 COL1A1 1277 broad.mit.edu 37 17 48264038 48264038 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:48264038G>A ENST00000225964.5 - 48 3895 c.3777C>T c.(3775-3777)tgC>tgT p.C1259C NM_000088.3 NP_000079.2 P02452 CO1A1_HUMAN collagen, type I, alpha 1 1259 Fibrillar collagen NC1. axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception collagen type I|extracellular space|plasma membrane identical protein binding|platelet-derived growth factor binding COL1A1/PDGFB(429) NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 Collagenase(DB00048)|Palifermin(DB00039) TGAGGTCACGGCAGGTGCGGG 0.647000 T """PDGFB, USP6""" """dermatofibrosarcoma protuberans, aneurysmal bone cyst """ Osteogenesis imperfecta 15 60 0 0 0.002450 0 0 CCS 9973 broad.mit.edu 37 11 66372865 66372865 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:66372865G>A ENST00000533244.1 + 6 986 c.545G>A c.(544-546)aGa>aAa p.R182K CCS_ENST00000310190.4_Missense_Mutation_p.R163K NM_005125.1 NP_005116.1 O14618 CCS_HUMAN copper chaperone for superoxide dismutase 182 Superoxide dismutase-like. intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals cytosol|mitochondrial inner membrane|nucleus|soluble fraction copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1) 9 GCCATCTTCAGAATGGAGGAT 0.567000 6 43 0 0 0.001984 0 0 KCNIP4 80333 broad.mit.edu 37 4 20852279 20852279 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:20852279C>T ENST00000382148.3 - 2 436 c.100G>A c.(100-102)Gat>Aat p.D34N KCNIP4_ENST00000382152.2_Missense_Mutation_p.D59N|KCNIP4_ENST00000382149.4_5'UTR|KCNIP4_ENST00000382150.4_Missense_Mutation_p.D38N|KCNIP4_ENST00000509207.1_5'UTR|KCNIP4_ENST00000447367.2_Missense_Mutation_p.D25N|KCNIP4_ENST00000359001.5_5'UTR NM_001035003.1 NP_001030175.1 Q6PIL6 KCIP4_HUMAN Kv channel interacting protein 4 59 KIS (By similarity). plasma membrane calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 13 Breast(46;0.134) TCCAGTTCATCTTCCACGCTG 0.498000 6 28 0 0 0.001168 0 0 ZNF217 7764 broad.mit.edu 37 20 52198100 52198100 + Silent SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:52198100A>G ENST00000371471.2 - 2 1691 c.1266T>C c.(1264-1266)ccT>ccC p.P422P ZNF217_ENST00000302342.3_Silent_p.P422P O75362 ZN217_HUMAN zinc finger protein 217 422 negative regulation of transcription, DNA-dependent histone deacetylase complex protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398) BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198) CGGCGAGGTCAGGAGAACACG 0.632000 11 46 0 0 0.000978 0 0 C3orf67 200844 broad.mit.edu 37 3 58849239 58849239 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:58849239G>A ENST00000472469.1 - 11 1822 c.984C>T c.(982-984)ttC>ttT p.F328F C3orf67_ENST00000482387.1_Intron|RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000295966.7_Intron|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA Q6ZVT6 CC067_HUMAN chromosome 3 open reading frame 67 0 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1) 19 all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248) BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23) TGGAGCTAAGGAAACAACTGT 0.413000 4 10 0 0 0.000248 0 0 AGTR2 186 broad.mit.edu 37 X 115304184 115304184 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:115304184C>T ENST00000371906.4 + 3 841 c.651C>T c.(649-651)atC>atT p.I217I NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 217 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 TGAAAAATATCCTTGGTTTTA 0.373000 5 12 0 0 0.000602 0 0 POLR3B 55703 broad.mit.edu 37 12 106851069 106851069 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:106851069C>T ENST00000228347.4 + 21 2669 c.2447C>T c.(2446-2448)tCt>tTt p.S816F POLR3B_ENST00000539066.1_Missense_Mutation_p.S758F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 816 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 GGTATTTGTTCTCCAGGTAAA 0.333000 12 30 0 0 0.001855 0 0 DIAPH3 81624 broad.mit.edu 37 13 60240758 60240758 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:60240758G>A ENST00000400324.4 - 28 3762 c.3542C>T c.(3541-3543)cCc>cTc p.P1181L DIAPH3_ENST00000400319.1_Missense_Mutation_p.P1111L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P1170L|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P1181L|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P1135L NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 1181 actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) TTCAACTTCGGGAACTGATTC 0.363000 10 39 0 0 0.000443 0 0 CELA2B 51032 broad.mit.edu 37 1 15808871 15808871 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:15808871C>T ENST00000375910.3 + 4 364 c.339C>T c.(337-339)tcC>tcT p.S113S CELA2B_ENST00000494280.1_3'UTR NM_015849.2 NP_056933.2 P08218 CEL2B_HUMAN chymotrypsin-like elastase family, member 2B 113 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 ACTGGAACTCCGACCAGGTCT 0.567000 22 69 0 0 0.001882 0 0 ADCY5 111 broad.mit.edu 37 3 123005552 123005552 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:123005552C>T ENST00000462833.1 - 20 4849 c.3637G>A c.(3637-3639)Ggt>Agt p.G1213S ADCY5_ENST00000309879.5_Missense_Mutation_p.G863S|ADCY5_ENST00000491190.1_Missense_Mutation_p.G871S NM_183357.2 NP_899200.1 O95622 ADCY5_HUMAN adenylate cyclase 5 1213 activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(114;0.0342) TCGGGTACACCGGTGCTGTCC 0.642000 OREG0004289|OREG0015741 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)|type=TRANSCRIPTION FACTOR BINDING SITE|Gene=ADCY5|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 18 52 0 0 0.006122 0 0 DSG1 1828 broad.mit.edu 37 18 28923429 28923429 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:28923429G>A ENST00000257192.4 + 12 1916 c.1704G>A c.(1702-1704)atG>atA p.M568I RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 568 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) CATTTTTGATGATCTGTTGTG 0.428000 19 134 0 0 0.001523 0 0 SIPA1 6494 broad.mit.edu 37 11 65408626 65408626 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65408626C>T ENST00000394224.3 + 2 530 c.234C>T c.(232-234)gcC>gcT p.A78A SIPA1_ENST00000527525.1_Silent_p.A78A|SIPA1_ENST00000394227.3_Silent_p.A78A|SIPA1_ENST00000534313.1_Silent_p.A78A NM_153253.29 NP_694985.29 Q96FS4 SIPA1_HUMAN signal-induced proliferation-associated 1 78 cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth cytosol|endomembrane system|membrane|perinuclear region of cytoplasm Rap GTPase activator activity cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1) 10 ACGAAGAGGCCAGCCGACCTG 0.716000 7 30 0 0 0.003080 0 0 THBD 7056 broad.mit.edu 37 20 23028831 23028831 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:23028831G>A ENST00000377103.2 - 1 1547 c.1311C>T c.(1309-1311)ttC>ttT p.F437F NM_000361.2 NP_000352.1 P07204 TRBM_HUMAN thrombomodulin 437 EGF-like 5. blood coagulation|leukocyte migration|negative regulation of fibrinolysis|negative regulation of platelet activation cell surface|integral to plasma membrane calcium ion binding|protein binding|transmembrane receptor activity endometrium(2)|large_intestine(3)|ovary(1)|skin(1) 7 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) Drotrecogin alfa(DB00055) CCGTGCAGATGAAACCGTCGT 0.622000 10 46 0 0 0.000443 0 0 TTN 7273 broad.mit.edu 37 2 179472297 179472297 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:179472297C>T ENST00000589042.1 - 277 53342 c.53118G>A c.(53116-53118)tgG>tgA p.W17706* TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W16065*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8766*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W15138*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8641*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8833*|TTN-AS1_ENST00000589234.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16065 Fibronectin type-III 28. 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) CTTCTTTGGTCCATACTTTTG 0.438000 35 142 0 0 0.005524 0 0 CELSR2 1952 broad.mit.edu 37 1 109803705 109803705 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:109803705C>T ENST00000271332.3 + 3 4061 c.4000C>T c.(4000-4002)Ccg>Tcg p.P1334S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1334 EGF-like 3; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) CCGTTGCACCCCGGGTGTCTG 0.587000 78 267 0 0 0.003610 0 0 AP1B1 162 broad.mit.edu 37 22 29726639 29726639 + Nonsense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:29726639G>A ENST00000357586.2 - 20 2770 c.2584C>T c.(2584-2586)Cag>Tag p.Q862* AP1B1_ENST00000402502.1_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000356015.2_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000317368.7_Nonsense_Mutation_p.Q835*|AP1B1_ENST00000415447.1_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000432560.2_Nonsense_Mutation_p.Q855*|AP1B1_ENST00000405198.1_Nonsense_Mutation_p.Q862* NM_001127.3 NP_001118.3 Q10567 AP1B1_HUMAN adaptor-related protein complex 1, beta 1 subunit 862 endocytosis|intracellular protein transport|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|protein transporter activity endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 TCTCTGATCTGGAACTGGGCC 0.652000 4 14 0 0 0.000602 0 0 SZT2 23334 broad.mit.edu 37 1 43885494 43885494 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:43885494C>T ENST00000562955.1 + 8 969 c.969C>T c.(967-969)tcC>tcT p.S323S NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 323 S -> A (in Ref. 3; BU101724). peroxisome NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 CATTTGGGTCCTACCTGTCCA 0.517000 20 55 0 0 0.001216 0 0 TTC29 83894 broad.mit.edu 37 4 147796069 147796069 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:147796069C>T ENST00000513335.1 - 8 875 c.676G>A c.(676-678)Gaa>Aaa p.E226K TTC29_ENST00000325106.4_Missense_Mutation_p.E200K|TTC29_ENST00000398886.4_Missense_Mutation_p.E226K Q8NA56 TTC29_HUMAN tetratricopeptide repeat domain 29 200 binding breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 26 all_hematologic(180;0.151) TCAGCAGCTTCCAGAAGCTGA 0.423000 7 13 0 0 0.000443 0 0 E2F3 1871 broad.mit.edu 37 6 20483065 20483065 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:20483065C>T ENST00000346618.3 + 4 864 c.798C>T c.(796-798)ctC>ctT p.L266L E2F3_ENST00000535432.1_Silent_p.L135L NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 266 Dimerization (Potential). G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) TGACCGAGCTCAGTCAGGAAG 0.493000 69 323 0 0 0.003610 0 0 PDE6C 5146 broad.mit.edu 37 10 95400236 95400236 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:95400236G>A ENST00000371447.3 + 13 1797 c.1659G>A c.(1657-1659)agG>agA p.R553R NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 553 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ACACTGTGAGGAAAGGGTACC 0.443000 23 57 0 0 0.001061 0 0 ZBTB7B 51043 broad.mit.edu 37 1 154988095 154988095 + Missense_Mutation SNP C C A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:154988095C>A ENST00000368426.3 + 3 1096 c.959C>A c.(958-960)tCc>tAc p.S320Y ZBTB7B_ENST00000535420.1_Missense_Mutation_p.S320Y|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.S354Y|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.S320Y NM_001256455.1 NP_001243384.1 O15156 ZBT7B_HUMAN zinc finger and BTB domain containing 7B 320 cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3) 29 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TACCTAAGCTCCCTGCACCAG 0.652000 11 42 3.07112e-06 6.49814e-06 0.000978 1 0 MAP1A 4130 broad.mit.edu 37 15 43818368 43818368 + Missense_Mutation SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:43818368A>G ENST00000382031.1 + 5 5442 c.5411A>G c.(5410-5412)gAa>gGa p.E1804G MAP1A_ENST00000300231.5_Missense_Mutation_p.E1566G|MAP1A_ENST00000399453.1_Missense_Mutation_p.E1566G P78559 MAP1A_HUMAN microtubule-associated protein 1A 1566 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GAAGCCCTGGAACAAAACATT 0.458000 7 34 0 0 0.001984 0 0 ZZEF1 23140 broad.mit.edu 37 17 3916868 3916868 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:3916868G>A ENST00000381638.2 - 52 8578 c.8454C>T c.(8452-8454)gtC>gtT p.V2818V NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2818 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GATGAGGCACGACCCTTTCTT 0.443000 33 119 0 0 0.004878 0 0 FBXW9 84261 broad.mit.edu 37 19 12800953 12800953 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:12800953G>A ENST00000380339.3 - 6 981 c.945C>T c.(943-945)atC>atT p.I315I FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_Silent_p.I305I|FBXW9_ENST00000544494.1_Intron Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 315 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 GGTGAGGAGGGATATCAGAGC 0.642000 6 36 0 0 0.001168 0 0 ANXA13 312 broad.mit.edu 37 8 124696873 124696873 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:124696873G>A ENST00000262219.6 - 11 998 c.931C>T c.(931-933)Cgc>Tgc p.R311C ANXA13_ENST00000419625.1_Missense_Mutation_p.R270C NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 270 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) ACGACTATGCGAATCAACGTC 0.512000 14 126 0 0 0.004007 0 0 TBX21 30009 broad.mit.edu 37 17 45822469 45822469 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:45822469C>T ENST00000177694.1 + 6 1556 c.1345C>T c.(1345-1347)Cgc>Tgc p.R449C NM_013351.1 NP_037483.1 Q9UL17 TBX21_HUMAN T-box 21 449 lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus nucleus sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 22 CAGCTGGTTCCGCCCTATGCG 0.677000 8 24 0 0 0.000443 0 0 LRFN4 78999 broad.mit.edu 37 11 66626527 66626527 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:66626527C>T ENST00000309602.4 + 1 1555 c.1312C>T c.(1312-1314)Cag>Tag p.Q438* PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 438 Fibronectin type-III. integral to membrane breast(1)|lung(1)|prostate(1) 3 GTTCCAAATCCAGTACAACAG 0.672000 20 70 0 0 0.002299 0 0 ZBBX 79740 broad.mit.edu 37 3 167023544 167023544 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:167023544C>T ENST00000392766.2 - 17 1952 c.1612G>A c.(1612-1614)Gaa>Aaa p.E538K ZBBX_ENST00000392767.2_Missense_Mutation_p.E538K|ZBBX_ENST00000307529.5_Missense_Mutation_p.E538K|ZBBX_ENST00000455345.2_Missense_Mutation_p.E538K|ZBBX_ENST00000392764.1_Missense_Mutation_p.E509K NM_001199201.1|NM_024687.3 NP_001186130.1|NP_078963.2 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 538 intracellular zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 70 GGAGCTTTTTCTAAATCTCTA 0.338000 4 36 0 0 0.000602 0 0 CEP57 9702 broad.mit.edu 37 11 95532426 95532426 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:95532426G>A ENST00000325542.5 + 2 314 c.76G>A c.(76-78)Gga>Aga p.G26R CEP57_ENST00000541150.1_Missense_Mutation_p.G17R|CEP57_ENST00000538658.1_Missense_Mutation_p.G26R|CEP57_ENST00000537677.1_5'UTR|CEP57_ENST00000325486.5_Missense_Mutation_p.G26R NM_001243776.1|NM_014679.4 NP_001230705.1|NP_055494.2 Q86XR8 CEP57_HUMAN centrosomal protein 57kDa 26 fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development centrosome|cytosol|Golgi apparatus|microtubule|nucleus fibroblast growth factor binding|protein homodimerization activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 13 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) AAGGTCTAATGGAAGCATGGT 0.378000 Mosaic Variegated Aneuploidy Syndrome 15 38 0 0 0.004007 0 0 SLC1A7 6512 broad.mit.edu 37 1 53553770 53553770 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:53553770G>A ENST00000371494.4 - 11 1721 c.1594C>T c.(1594-1596)Ccc>Tcc p.P532S SLC1A7_ENST00000488036.1_5'UTR NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 532 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) ACTTGAACGGGGACGTGGTGG 0.637000 13 33 0 0 0.003163 0 0 TACR2 6865 broad.mit.edu 37 10 71164782 71164782 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:71164782C>T ENST00000373306.4 - 5 1540 c.997G>A c.(997-999)Gaa>Aaa p.E333K TACR2_ENST00000373307.1_Missense_Mutation_p.E121K NM_001057.2 NP_001048.2 P21452 NK2R_HUMAN tachykinin receptor 2 333 excretion|muscle contraction integral to plasma membrane tachykinin receptor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 11 Clonidine(DB00575)|Octreotide(DB00104) AGCTTATCTTCCTTGGTGGGT 0.607000 15 69 0 0 0.004007 0 0 FAT4 79633 broad.mit.edu 37 4 126408537 126408537 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:126408537G>A ENST00000394329.3 + 16 12867 c.12854G>A c.(12853-12855)gGa>gAa p.G4285E FAT4_ENST00000335110.5_Missense_Mutation_p.G2526E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4285 Laminin G-like 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TCCGATGCAGGAATTGCTGGG 0.323000 18 46 0 0 0.001216 0 0 KCNK13 56659 broad.mit.edu 37 14 90650623 90650623 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:90650623G>A ENST00000282146.4 + 2 944 c.503G>A c.(502-504)cGa>cAa p.R168Q NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 168 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) CTCCGGAGACGAGGGGCCCTG 0.607000 14 65 0 0 0.001855 0 0 ITIH1 3697 broad.mit.edu 37 3 52818369 52818369 + Missense_Mutation SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:52818369T>G ENST00000273283.2 + 11 1307 c.1283T>G c.(1282-1284)tTc>tGc p.F428C ITIH1_ENST00000542827.1_Missense_Mutation_p.F428C|ITIH1_ENST00000540715.1_Missense_Mutation_p.F286C|ITIH1_ENST00000537050.1_Missense_Mutation_p.F140C NM_002215.3 NP_002206.2 P19827 ITIH1_HUMAN inter-alpha-trypsin inhibitor heavy chain 1 428 Hyaluronan-binding.|VWFA. hyaluronan metabolic process|leukocyte activation extracellular region calcium ion binding|serine-type endopeptidase inhibitor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 52 BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498) CGGGGCAGGTTCCCGCTCTAC 0.582000 5 24 0 0 0.000602 0 0 FAM160B2 64760 broad.mit.edu 37 8 21955654 21955654 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:21955654G>A ENST00000289921.7 + 6 647 c.601G>A c.(601-603)Gac>Aac p.D201N NM_022749.5 NP_073586.5 Q86V87 F16B2_HUMAN family with sequence similarity 160, member B2 201 endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1) 9 CAGCCACGGGGACAAGGACTG 0.597000 4 4 0 0 0.000248 0 0 STOX1 219736 broad.mit.edu 37 10 70645007 70645007 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:70645007C>T ENST00000298596.6 + 3 1538 c.1455C>T c.(1453-1455)tcC>tcT p.S485S STOX1_ENST00000399169.4_Silent_p.S485S|STOX1_ENST00000421961.2_Silent_p.S375S|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron NM_152709.4 NP_689922.3 Q6ZVD7 STOX1_HUMAN storkhead box 1 485 cytoplasm|nucleolus DNA binding breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3) 28 TGCTAGGTTCCCATTTGATTT 0.448000 7 44 0 0 0.001984 0 0 OR13C8 138802 broad.mit.edu 37 9 107331457 107331457 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:107331457G>A ENST00000335040.1 + 1 9 c.9G>A c.(7-9)agG>agA p.R3R NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ATATGGAAAGGACCAACGATT 0.398000 7 75 0 0 0.001984 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15884945 15884945 + RNA SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:15884945C>T ENST00000587443.2 - 0 384 NR_033864.1 AGGCGGGCGTCAGCATCCGAC 0.552000 6 12 0 0 0.001984 0 0 ILDR2 387597 broad.mit.edu 37 1 166896409 166896409 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:166896409C>T ENST00000271417.3 - 7 944 c.889G>A c.(889-891)Ggt>Agt p.G297S ILDR2_ENST00000526687.1_Missense_Mutation_p.G189S|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Missense_Mutation_p.G238S|ILDR2_ENST00000525740.1_Missense_Mutation_p.G170S|ILDR2_ENST00000529071.1_Missense_Mutation_p.G278S|ILDR2_ENST00000469934.2_Missense_Mutation_p.G297S NM_199351.2 NP_955383.1 Q71H61 ILDR2_HUMAN immunoglobulin-like domain containing receptor 2 297 integral to membrane NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 22 ATCCGGTAACCTTTGCGAACT 0.448000 15 109 0 0 0.006122 0 0 ARIH2 10425 broad.mit.edu 37 3 49020677 49020677 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:49020677C>T ENST00000356401.4 + 16 1795 c.1456C>T c.(1456-1458)Ctg>Ttg p.L486L ARIH2_ENST00000449376.1_Silent_p.L486L|RP13-131K19.1_ENST00000415982.1_RNA|RP13-131K19.1_ENST00000429681.1_RNA NM_006321.2 NP_006312.1 O95376 ARI2_HUMAN ariadne RBR E3 ubiquitin protein ligase 2 486 developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1) 13 BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269) GAGGAGAACCCTGCTGAAAGA 0.562000 41 187 0 0 0.003214 0 0 TMX1 81542 broad.mit.edu 37 14 51716269 51716269 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:51716269C>T ENST00000457354.2 + 6 698 c.573C>T c.(571-573)tcC>tcT p.S191S NM_030755.4 NP_110382.3 Q9H3N1 TMX1_HUMAN thioredoxin-related transmembrane protein 1 191 anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction endoplasmic reticulum membrane|integral to membrane|membrane fraction arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity endometrium(2)|large_intestine(2)|urinary_tract(1) 5 CTCTGTTTTCCGGACTGTTAT 0.328000 34 117 0 0 0.003271 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37430958 37430958 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:37430958G>A ENST00000374660.1 + 7 1064 c.965G>A c.(964-966)gGa>gAa p.G322E ANKRD30A_ENST00000361713.1_Missense_Mutation_p.G322E|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.G322E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 378 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CCAGCAAAAGGAAGACCTAGG 0.433000 16 61 0 0 0.006122 0 0 GPRIN3 285513 broad.mit.edu 37 4 90169566 90169566 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:90169566G>A ENST00000333209.3 - 2 2214 c.1696C>T c.(1696-1698)Cct>Tct p.P566S NM_198281.2 NP_938022.2 Q6ZVF9 GRIN3_HUMAN GPRIN family member 3 566 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TGGGATTTAGGATTGAGCAGT 0.468000 13 56 0 0 0.001855 0 0 CLEC3B 7123 broad.mit.edu 37 3 45077096 45077096 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:45077096G>A ENST00000296130.4 + 3 469 c.289G>A c.(289-291)Gac>Aac p.D97N CLEC3B_ENST00000428034.1_Missense_Mutation_p.D55N|CLEC3B_ENST00000490386.1_3'UTR NM_003278.2 NP_003269.2 P05452 TETN_HUMAN C-type lectin domain family 3, member B 97 C-type lectin. skeletal system development extracellular space protein binding|sugar binding endometrium(1)|lung(3) 4 BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGCCAGCGAGGACTGCATCTC 0.632000 6 45 0 0 0.001984 0 0 ST13 6767 broad.mit.edu 37 22 41223122 41223122 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:41223122G>A ENST00000216218.3 - 11 1440 c.959C>T c.(958-960)cCa>cTa p.P320L NM_003932.3 NP_003923.2 P50502 F10A1_HUMAN suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein) 320 STI1. protein binding, bridging cervix(1)|large_intestine(1)|lung(3)|skin(1) 6 AAGAACCTCTGGATCACTAAG 0.458000 21 44 0 0 0.001882 0 0 ITGB5 3693 broad.mit.edu 37 3 124540214 124540214 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:124540214G>A ENST00000296181.4 - 6 1184 c.888C>T c.(886-888)caC>caT p.H296H ITGB5_ENST00000488466.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 296 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) ACTGGCCATCGTGTGGCTGCA 0.567000 7 30 0 0 0.004482 0 0 EMR1 2015 broad.mit.edu 37 19 6921867 6921867 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:6921867C>T ENST00000312053.4 + 14 1801 c.1764C>T c.(1762-1764)gcC>gcT p.A588A EMR1_ENST00000250572.8_Silent_p.A588A|EMR1_ENST00000450315.3_Silent_p.A411A|EMR1_ENST00000381407.5_Silent_p.A447A|EMR1_ENST00000381404.4_Silent_p.A536A NM_001974.4 NP_001965.3 Q14246 EMR1_HUMAN egf-like module containing, mucin-like, hormone receptor-like 1 588 GPS.|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) CAAATCTTGCCGTTATCATGG 0.463000 21 72 0 0 0.002780 0 0 ACE 1636 broad.mit.edu 37 17 61568324 61568324 + Nonsense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:61568324G>A ENST00000577647.1 + 7 974 c.929G>A c.(928-930)tGg>tAg p.W310* ACE_ENST00000428043.1_Nonsense_Mutation_p.W884*|ACE_ENST00000290866.4_Nonsense_Mutation_p.W884*|ACE_ENST00000490216.2_Nonsense_Mutation_p.W310*|ACE_ENST00000290863.6_Nonsense_Mutation_p.W310*|ACE_ENST00000421982.2_Nonsense_Mutation_p.W130*|ACE_ENST00000413513.3_Nonsense_Mutation_p.W310* P12821 ACE_HUMAN angiotensin I converting enzyme 884 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) GGGAACATGTGGGCGCAGACC 0.582000 23 96 0 0 0.001061 0 0 COL4A4 1286 broad.mit.edu 37 2 227896735 227896735 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:227896735C>T ENST00000396625.3 - 40 3950 c.3743G>A c.(3742-3744)gGa>gAa p.G1248E COL4A4_ENST00000329662.7_Missense_Mutation_p.G1248E NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1248 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) AGGAGCTCTTCCTGTGGCACC 0.498000 9 33 0 0 0.000443 0 0 ZNF132 7691 broad.mit.edu 37 19 58945209 58945209 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:58945209C>T ENST00000254166.3 - 3 2002 c.1602G>A c.(1600-1602)tgG>tgA p.W534* NM_003433.3 NP_003424.3 P52740 ZN132_HUMAN zinc finger protein 132 534 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182) TGTGAATTCTCCAGTGCTGAA 0.498000 8 34 0 0 0.000978 0 0 GRIA1 2890 broad.mit.edu 37 5 153149862 153149862 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:153149862G>A ENST00000285900.5 + 13 2500 c.2157G>A c.(2155-2157)gaG>gaA p.E719E GRIA1_ENST00000518142.1_Silent_p.E639E|GRIA1_ENST00000448073.4_Silent_p.E729E|GRIA1_ENST00000521843.2_Silent_p.E650E|GRIA1_ENST00000340592.5_Silent_p.E719E|GRIA1_ENST00000518783.1_Silent_p.E729E NM_000827.3|NM_001258019.1 NP_000818.2|NP_001244948.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 719 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) ACCTCCTGGAGTCCACCATGA 0.498000 7 20 0 0 0.001984 0 0 TMPO 7112 broad.mit.edu 37 12 98938241 98938241 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:98938241C>T ENST00000556029.1 + 6 1161 c.805C>T c.(805-807)Cgt>Tgt p.R269C TMPO_ENST00000548223.1_3'UTR|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000343315.5_Missense_Mutation_p.R229C NM_001032283.2 NP_001027454.1 P42167 LAP2B_HUMAN thymopoietin 269 Nucleoplasmic (Potential). integral to membrane|nuclear inner membrane DNA binding|lamin binding p.R269C(1) breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 AGAACATTTTCGTATAGATGG 0.303000 7 20 0 0 0.004482 0 0 ETV4 2118 broad.mit.edu 37 17 41607273 41607273 + Missense_Mutation SNP C C G rs147888887 by1000genomes TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:41607273C>G ENST00000319349.5 - 10 1232 c.934G>C c.(934-936)Gtt>Ctt p.V312L ETV4_ENST00000545089.1_Missense_Mutation_p.V258L|ETV4_ENST00000545954.1_Missense_Mutation_p.V273L|ETV4_ENST00000586826.1_Missense_Mutation_p.V35L|ETV4_ENST00000393664.2_Missense_Mutation_p.V312L|ETV4_ENST00000591713.1_Missense_Mutation_p.V312L|ETV4_ENST00000538265.1_Missense_Mutation_p.V273L NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 312 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) TCAGGGACAACGCAGACATCA 0.512000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 35 158 0 0 0.001951 0 0 BAZ2A 11176 broad.mit.edu 37 12 57003922 57003922 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:57003922G>A ENST00000179765.5 - 10 1966 c.1767C>T c.(1765-1767)ttC>ttT p.F589F BAZ2A_ENST00000549884.1_Silent_p.F619F|BAZ2A_ENST00000551812.1_Silent_p.F621F|BAZ2A_ENST00000379441.3_Silent_p.F591F Q9UIF9 BAZ2A_HUMAN bromodomain adjacent to zinc finger domain, 2A 621 MBD. chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent chromatin silencing complex|nucleolus|rDNA heterochromatin DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1) 31 TTTCTTCAAAGAAATCTCCAA 0.512000 14 102 0 0 0.004007 0 0 NPAP1 23742 broad.mit.edu 37 15 24922699 24922699 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:24922699C>T ENST00000329468.2 + 1 2159 c.1685C>T c.(1684-1686)tCt>tTt p.S562F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 ACAAACGCATCTGCCCACCTA 0.483000 28 78 0 0 0.004656 0 0 SLC9A2 6549 broad.mit.edu 37 2 103281594 103281594 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:103281594G>A ENST00000233969.2 + 3 931 c.789G>A c.(787-789)atG>atA p.M263I NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 263 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 TTTGCCAGATGAAAACCATTG 0.463000 28 86 0 0 0.001271 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134471706 134471706 + Missense_Mutation SNP C C A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:134471706C>A ENST00000372195.1 - 14 2404 c.2161G>T c.(2161-2163)Gct>Tct p.A721S RAPGEF1_ENST00000372189.3_Missense_Mutation_p.A704S|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.A722S Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 704 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GTCTCAGTAGCATGGACCAGT 0.592000 10 28 6.40141e-05 0.000135194 0.000978 1 0 NFASC 23114 broad.mit.edu 37 1 204938097 204938097 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:204938097G>A ENST00000367172.4 + 10 1318 c.990G>A c.(988-990)tcG>tcA p.S330S NFASC_ENST00000338586.6_Silent_p.S330S|NFASC_ENST00000401399.1_Silent_p.S330S|NFASC_ENST00000513543.1_Silent_p.S341S|NFASC_ENST00000404907.1_Silent_p.S341S|NFASC_ENST00000403080.1_Silent_p.S330S|NFASC_ENST00000367169.4_Silent_p.S330S|NFASC_ENST00000404076.1_Silent_p.S324S|NFASC_ENST00000539706.1_Silent_p.S341S|NFASC_ENST00000338515.6_Silent_p.S330S|NFASC_ENST00000367170.4_Silent_p.S330S|NFASC_ENST00000339876.6_Silent_p.S330S|NFASC_ENST00000367171.4_Silent_p.S330S|NFASC_ENST00000360049.4_Silent_p.S341S O94856 NFASC_HUMAN neurofascin 330 Ig-like C2-type 3. axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) ACACGATCTCGGTGAGAGTAA 0.512000 4 29 0 0 0.001168 0 0 GPSM3 63940 broad.mit.edu 37 6 32159488 32159488 + Missense_Mutation SNP G G T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:32159488G>T ENST00000375040.3 - 3 735 c.343C>A c.(343-345)Cag>Aag p.Q115K GPSM3_ENST00000375043.3_Missense_Mutation_p.Q115K|GPSM3_ENST00000487761.1_Missense_Mutation_p.Q112K NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 115 GoLoco 2. signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 TGTCTTACCTGGTGACTGAGG 0.597000 6 215 0.00198382 0.00415867 0.001984 1 0 SLAMF7 57823 broad.mit.edu 37 1 160720137 160720137 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:160720137C>T ENST00000368043.3 + 4 730 c.693C>T c.(691-693)ctC>ctT p.L231L SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000368042.3_Silent_p.L124L|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Silent_p.L231L NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 231 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TCCTGTGTCTCCTGTTGGTGC 0.507000 82 158 0 0 0.003610 0 0 C17orf75 64149 broad.mit.edu 37 17 30661605 30661605 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:30661605G>A ENST00000577809.1 - 8 803 c.754C>T c.(754-756)Ctt>Ttt p.L252F RP11-227G15.3_ENST00000581915.1_RNA|C17orf75_ENST00000225805.4_Missense_Mutation_p.L252F NM_022344.3 NP_071739.2 Q9HAS0 NJMU_HUMAN chromosome 17 open reading frame 75 252 spermatogenesis ovary(1) 1 Breast(31;0.116)|Ovarian(249;0.182) BRCA - Breast invasive adenocarcinoma(9;0.239) AGTCCTTGAAGACTGGCCACA 0.478000 4 19 0 0 0.000248 0 0 COL6A3 1293 broad.mit.edu 37 2 238287836 238287836 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:238287836G>A ENST00000295550.4 - 6 2392 c.1940C>T c.(1939-1941)tCa>tTa p.S647L COL6A3_ENST00000409809.1_Missense_Mutation_p.S441L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S441L|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Missense_Mutation_p.S240L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S446L|COL6A3_ENST00000346358.4_Intron|COL6A3_ENST00000392004.3_Missense_Mutation_p.S441L NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 647 Nonhelical region.|VWFA 4. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) AACGTTGGCTGATCCATCCAA 0.378000 9 36 0 0 0.000978 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68115390 68115390 + Silent SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:68115390A>G ENST00000262215.3 - 36 5445 c.5056T>C c.(5056-5058)Tta>Cta p.L1686L ARFGEF1_ENST00000520381.1_Silent_p.L1140L|ARFGEF1_ENST00000518230.1_Silent_p.L524L NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1686 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) GACTCTAATAAGCAGTCCAGT 0.423000 34 39 0 0 0.003755 0 0 SCN8A 6334 broad.mit.edu 37 12 52168020 52168020 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:52168020C>T ENST00000354534.5 + 20 3871 c.3693C>T c.(3691-3693)atC>atT p.I1231I SCN8A_ENST00000545061.1_Silent_p.I1231I NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1231 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) TCCGCACCATCCTGGAATATG 0.498000 8 43 0 0 0.003080 0 0 TRIM14 9830 broad.mit.edu 37 9 100857227 100857227 + Missense_Mutation SNP C C G rs149392923 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:100857227C>G ENST00000341469.2 - 4 631 c.622G>C c.(622-624)Gtc>Ctc p.V208L TRIM14_ENST00000375098.3_Missense_Mutation_p.V208L|TRIM14_ENST00000342043.3_Missense_Mutation_p.V208L NM_014788.2 NP_055603.2 Q14142 TRI14_HUMAN tripartite motif containing 14 208 cytoplasm|intracellular zinc ion binding p.V208I(1) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 9 Acute lymphoblastic leukemia(62;0.0559) AAGCTCTTGACGGGCTCAAAG 0.582000 23 69 0 0 0.003330 0 0 SLC9A2 6549 broad.mit.edu 37 2 103299780 103299780 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:103299780C>T ENST00000233969.2 + 4 1207 c.1065C>T c.(1063-1065)tcC>tcT p.S355S NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 355 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CTCAGAAATCCTACACGACCA 0.418000 15 63 0 0 0.003163 0 0 OR2J2 26707 broad.mit.edu 37 6 29141611 29141611 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:29141611C>T ENST00000377167.2 + 1 301 c.199C>T c.(199-201)Ctc>Ttc p.L67F NM_030905.2 NP_112167.2 O76002 OR2J2_HUMAN olfactory receptor, family 2, subfamily J, member 2 67 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1) 25 CCTTTCAAACCTCTCATTTCT 0.493000 6 97 0 0 0.001984 0 0 PCNXL3 399909 broad.mit.edu 37 11 65402031 65402031 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65402031C>T ENST00000355703.3 + 29 5263 c.4724C>T c.(4723-4725)tCc>tTc p.S1575F NM_032223.2 NP_115599.2 Q9H6A9 PCX3_HUMAN pecanex-like 3 (Drosophila) 1575 integral to membrane breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1) 13 GATTGGAACTCCCCGCTGGTC 0.662000 6 11 0 0 0.003080 0 0 ACOT4 122970 broad.mit.edu 37 14 74062179 74062179 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:74062179G>A ENST00000326303.4 + 3 1341 c.1087G>A c.(1087-1089)Gag>Aag p.E363K NM_152331.3 NP_689544.3 Q8N9L9 ACOT4_HUMAN acyl-CoA thioesterase 4 363 acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process peroxisome carboxylesterase activity|palmitoyl-CoA hydrolase activity endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(234;0.00331) GCATTACATCGAGCCTCCTTA 0.517000 19 50 0 0 0.006122 0 0 PLK1 5347 broad.mit.edu 37 16 23695367 23695367 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:23695367C>T ENST00000300093.4 + 5 1104 c.993C>T c.(991-993)agC>agT p.S331S NM_005030.3 NP_005021.2 P53350 PLK1_HUMAN polo-like kinase 1 331 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(48;0.0156) CTCCCAGCAGCCTGGACCCCA 0.547000 18 127 0 0 0.000958 0 0 GLYAT 10249 broad.mit.edu 37 11 58482865 58482865 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:58482865C>T ENST00000344743.3 - 3 254 c.113G>A c.(112-114)gGa>gAa p.G38E GLYAT_ENST00000529732.1_Missense_Mutation_p.G38E|GLYAT_ENST00000278400.3_Missense_Mutation_p.G38E NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 38 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GAATGGATTTCCATGGTTTAT 0.398000 5 17 0 0 0.000602 0 0 CEACAM7 1087 broad.mit.edu 37 19 42190975 42190975 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:42190975C>T ENST00000006724.3 - 2 443 c.242G>A c.(241-243)gGa>gAa p.G81E CEACAM7_ENST00000602225.1_Missense_Mutation_p.G81E|CEACAM7_ENST00000338196.4_Missense_Mutation_p.G81E|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.G81E NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 81 Ig-like V-type. anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TTTTACATATCCTATAATTCG 0.463000 38 121 0 0 0.004878 0 0 CABIN1 23523 broad.mit.edu 37 22 24574103 24574103 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:24574103C>T ENST00000398319.2 + 37 6987 c.6602C>T c.(6601-6603)tCc>tTc p.S2201F CABIN1_ENST00000405822.2_Missense_Mutation_p.S2122F|CABIN1_ENST00000337989.7_Missense_Mutation_p.S571F|CABIN1_ENST00000263119.5_Missense_Mutation_p.S2201F NM_001199281.1 NP_001186210.1 Q9Y6J0 CABIN_HUMAN calcineurin binding protein 1 2201 cell surface receptor linked signaling pathway|chromatin modification nucleus protein phosphatase inhibitor activity breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 CTGGAGACATCCAGCCAGGAG 0.652000 13 53 0 0 0.001855 0 0 OR4K1 79544 broad.mit.edu 37 14 20404563 20404563 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:20404563G>A ENST00000285600.4 + 1 797 c.738G>A c.(736-738)gtG>gtA p.V246V NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ACATCACAGTGGTCATTCTTT 0.413000 19 79 0 0 0.001523 0 0 KIAA1462 57608 broad.mit.edu 37 10 30316689 30316689 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:30316689C>T ENST00000375377.1 - 3 2489 c.2388G>A c.(2386-2388)ggG>ggA p.G796G NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 796 p.G796>?(1) breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 CCCGCTTAGGCCCAGGGTGGG 0.627000 31 91 0 0 0.001287 0 0 OR13C8 138802 broad.mit.edu 37 9 107331456 107331456 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:107331456G>A ENST00000335040.1 + 1 8 c.8G>A c.(7-9)aGg>aAg p.R3K NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 AATATGGAAAGGACCAACGAT 0.398000 7 74 0 0 0.001984 0 0 HMGCLL1 54511 broad.mit.edu 37 6 55360350 55360350 + Missense_Mutation SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:55360350A>G ENST00000398661.2 - 8 883 c.752T>C c.(751-753)aTt>aCt p.I251T HMGCLL1_ENST00000274901.4_Missense_Mutation_p.I221T|HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.I118T|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.I189T NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 251 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) TCCCACTCCAATTGTGTCTCC 0.418000 18 28 0 0 0.000958 0 0 ZNF804A 91752 broad.mit.edu 37 2 185802259 185802259 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:185802259G>A ENST00000302277.6 + 4 2730 c.2136G>A c.(2134-2136)ggG>ggA p.G712G NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 712 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TACATTCTGGGAAACATAATT 0.308000 9 30 0 0 0.004482 0 0 LECT2 3950 broad.mit.edu 37 5 135283141 135283141 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:135283141C>T ENST00000274507.1 - 4 535 c.335G>A c.(334-336)gGt>gAt p.G112D LECT2_ENST00000512872.1_Missense_Mutation_p.G40D|LECT2_ENST00000522943.1_Intron|LECT2_ENST00000471827.1_Intron|FBXL21_ENST00000467490.1_RNA NM_002302.2 NP_002293.2 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 112 chemotaxis|skeletal system development cytoplasm|extracellular space large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTAATAGGACCTTTATACTT 0.338000 7 37 0 0 0.001984 0 0 RUSC2 9853 broad.mit.edu 37 9 35558458 35558458 + Splice_Site SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:35558458G>A ENST00000455600.1 + 8 3804 c.e8-1 NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) CTTCCTCCCAGGCCCATCCAC 0.572000 30 163 0 0 0.003755 0 0 PELP1 27043 broad.mit.edu 37 17 4576956 4576956 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:4576956G>A ENST00000301396.4 - 14 2253 c.2028C>T c.(2026-2028)acC>acT p.T676T PELP1_ENST00000269230.7_Intron|PELP1_ENST00000572293.1_Silent_p.T582T|PELP1_ENST00000436683.2_Silent_p.T385T|PELP1_ENST00000574876.1_Silent_p.T532T Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 532 Pro-rich. transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 ACATGAGGATGGTCCGGCTGA 0.567000 16 64 0 0 0.004007 0 0 DUSP26 78986 broad.mit.edu 37 8 33454954 33454954 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:33454954C>T ENST00000256261.4 - 2 597 c.80G>A c.(79-81)cGa>cAa p.R27Q DUSP26_ENST00000523956.1_Missense_Mutation_p.R27Q NM_024025.1 NP_076930.1 Q9BV47 DUS26_HUMAN dual specificity phosphatase 26 (putative) 27 Golgi apparatus|nucleus protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1) 15 KIRC - Kidney renal clear cell carcinoma(67;0.0918)|Kidney(114;0.111) CCCTCGAGTTCGAACAGGAGA 0.537000 17 45 0 0 0.000958 0 0 LRCH4 4034 broad.mit.edu 37 7 100179450 100179450 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100179450G>A ENST00000310300.6 - 4 600 c.548C>T c.(547-549)tCc>tTc p.S183F LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 183 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GTCCCGCAGGGAAGAGAGGCC 0.587000 11 36 0 0 0.000978 0 0 CCR2 729230 broad.mit.edu 37 3 46399721 46399721 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:46399721G>A ENST00000292301.4 + 2 1188 c.703G>A c.(703-705)Gag>Aag p.E235K CCR2_ENST00000445132.2_Missense_Mutation_p.E235K|CCR2_ENST00000400888.2_Missense_Mutation_p.E235K|CCR2_ENST00000465202.1_3'UTR NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 235 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) GTGTCGAAACGAGAAGAAGAG 0.468000 45 188 0 0 0.003610 0 0 SUCO 51430 broad.mit.edu 37 1 172522443 172522443 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:172522443C>T ENST00000263688.3 + 3 440 c.221C>T c.(220-222)tCa>tTa p.S74L SUCO_ENST00000367723.3_Intron NM_014283.3 NP_055098.1 SUN domain containing ossification factor TTGGGAAAATCAGGTTCAAAT 0.303000 36 96 0 0 0.001287 0 0 ABCC3 8714 broad.mit.edu 37 17 48762092 48762092 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:48762092C>T ENST00000285238.8 + 29 4216 c.4136C>T c.(4135-4137)aCc>aTc p.T1379I NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 1379 ABC transporter 2. 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) TTCTCGGGGACCCTGCGCATG 0.617000 13 74 0 0 0.002450 0 0 SKIV2L 6499 broad.mit.edu 37 6 31929757 31929757 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:31929757C>T ENST00000375394.2 + 10 1103 c.990C>T c.(988-990)gtC>gtT p.V330V SKIV2L_ENST00000544581.1_Silent_p.V137V NM_006929.4 NP_008860.4 Q15477 SKIV2_HUMAN superkiller viralicidic activity 2-like (S. cerevisiae) 330 Helicase ATP-binding. nucleus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1) 4 CTGTCTTTGTCGCAGCTCACA 0.507000 191 323 0 0 0.003610 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432756 67432756 + Splice_Site SNP C C T rs142113776 byFrequency TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:67432756C>T ENST00000349015.3 - 7 1144 c.706_splice c.e7+1 p.A236_splice ALDH3B2_ENST00000530069.1_Splice_Site_p.A236_splice NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 236 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CAGGACTCACCGATGTAGCGA 0.642000 19 59 0 0 0.001216 0 0 CCDC110 256309 broad.mit.edu 37 4 186380657 186380657 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:186380657G>A ENST00000307588.3 - 6 1159 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S CCDC110_ENST00000510617.1_Missense_Mutation_p.P362S|CCDC110_ENST00000393540.3_Missense_Mutation_p.P325S NM_152775.3 NP_689988.1 Q8TBZ0 CC110_HUMAN coiled-coil domain containing 110 362 nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9) 30 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749) OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164) CCAGTGATGGGAATTTCTTTA 0.323000 24 81 0 0 0.002780 0 0 KIAA1244 57221 broad.mit.edu 37 6 138655749 138655749 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:138655749G>A ENST00000251691.4 + 33 5932 c.5766G>A c.(5764-5766)ctG>ctA p.L1922L NM_020340.4 NP_065073.3 Q5TH69 BIG3_HUMAN KIAA1244 1922 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2) 44 Breast(32;0.135) OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259) ACTTGGACCTGGAGAACTGTA 0.572000 5 45 0 0 0.001168 0 0 GDAP1 54332 broad.mit.edu 37 8 75276235 75276235 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:75276235C>T ENST00000220822.7 + 6 790 c.710C>T c.(709-711)cCt>cTt p.P237L GDAP1_ENST00000434412.2_Missense_Mutation_p.P169L|GDAP1_ENST00000521096.1_3'UTR NM_001040875.2|NM_018972.2 NP_001035808.1|NP_061845.2 Q8TB36 GDAP1_HUMAN ganglioside induced differentiation associated protein 1 237 GST C-terminal. cytoplasm endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Breast(64;0.00769) Myeloproliferative disorder(644;0.0122) BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234) GGCCAGCAACCTTGGCTCTGC 0.512000 35 29 0 0 0.002836 0 0 RELN 5649 broad.mit.edu 37 7 103202103 103202103 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:103202103G>A ENST00000428762.1 - 36 5564 c.5405C>T c.(5404-5406)tCg>tTg p.S1802L RELN_ENST00000343529.5_Missense_Mutation_p.S1802L|RELN_ENST00000424685.2_Missense_Mutation_p.S1802L NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1802 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity p.S1802L(1) NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TTTAAGAATCGAGGGCAGAGG 0.463000 5 19 0 0 0.000602 0 0 IPO9 55705 broad.mit.edu 37 1 201828048 201828048 + Missense_Mutation SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:201828048T>G ENST00000361565.4 + 13 1463 c.1394T>G c.(1393-1395)gTg>gGg p.V465G NM_018085.4 NP_060555.2 Q96P70 IPO9_HUMAN importin 9 465 protein import into nucleus cytoplasm|nucleus histone binding|protein transporter activity cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 38 ACTGACAGTGTGAAAAATGGC 0.473000 11 53 0 0 0.000978 0 0 HIVEP1 3096 broad.mit.edu 37 6 12122788 12122788 + Missense_Mutation SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:12122788T>G ENST00000379388.2 + 4 3092 c.2760T>G c.(2758-2760)gaT>gaG p.D920E NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 920 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) AGTCCCTGGATGAGAGCCACC 0.507000 11 34 0 0 0.000673 0 0 SUN5 140732 broad.mit.edu 37 20 31573551 31573551 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:31573551G>A ENST00000356173.3 - 11 980 c.888C>T c.(886-888)ttC>ttT p.F296F SUN5_ENST00000375523.3_Silent_p.F271F NM_080675.3 NP_542406.2 Q8TC36 SUN5_HUMAN Sad1 and UNC84 domain containing 5 296 SUN. spermatogenesis endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 25 CATAGATGACGAAGTCCTTGG 0.537000 8 42 0 0 0.000443 0 0 KIF21A 55605 broad.mit.edu 37 12 39696939 39696939 + Splice_Site SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:39696939T>G ENST00000395670.3 - 35 4983 c.e35-2 KIF21A_ENST00000361418.5_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site Q7Z4S6 KI21A_HUMAN kinesin family member 21A microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) ATCAAACATCTAAAAAGGTAG 0.378000 5 22 0 0 0.001168 0 0 SCAF4 57466 broad.mit.edu 37 21 33060664 33060664 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:33060664G>A ENST00000286835.7 - 16 2381 c.1999C>T c.(1999-2001)Cct>Tct p.P667S SCAF4_ENST00000434667.3_Missense_Mutation_p.P652S|SCAF4_ENST00000399804.1_Missense_Mutation_p.P667S NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 667 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 GGAATAGGAGGGACAGGCACA 0.448000 19 107 0 0 0.001882 0 0 ESRRB 2103 broad.mit.edu 37 14 76905728 76905728 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:76905728G>A ENST00000380887.2 + 2 104 c.32G>A c.(31-33)aGc>aAc p.S11N ESRRB_ENST00000509242.1_Missense_Mutation_p.S11N|ESRRB_ENST00000261532.7_Missense_Mutation_p.S11N|ESRRB_ENST00000556177.1_Missense_Mutation_p.S11N|ESRRB_ENST00000507951.1_3'UTR A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 11 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CTGGGCTCCAGCTGCGGCTCC 0.667000 15 68 0 0 0.004007 0 0 PRRC2A 7916 broad.mit.edu 37 6 31593278 31593278 + Nonsense_Mutation SNP G G T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:31593278G>T ENST00000376033.2 + 7 883 c.649G>T c.(649-651)Gag>Tag p.E217* PRRC2A_ENST00000376007.4_Nonsense_Mutation_p.E217*|PRRC2A_ENST00000469577.1_3'UTR NM_004638.3 NP_004629.3 P48634 PRC2A_HUMAN proline-rich coiled-coil 2A 217 4 X 57 AA type A repeats. cytoplasm|nucleus protein binding breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 70 TGGCCCTGATGAGCTGGAGGG 0.552000 16 90 1.15088e-07 2.43969e-07 0.004007 1 0 LPPR1 54886 broad.mit.edu 37 9 104079699 104079699 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:104079699C>T ENST00000374874.3 + 7 1305 c.866C>T c.(865-867)cCc>cTc p.P289L LPPR1_ENST00000395056.2_Missense_Mutation_p.P289L NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 289 integral to membrane catalytic activity CCTTCCAAACCCAAGCCTGAG 0.488000 40 166 0 0 0.001706 0 0 TNN 63923 broad.mit.edu 37 1 175097807 175097807 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:175097807C>T ENST00000239462.4 + 15 3368 c.3255C>T c.(3253-3255)acC>acT p.T1085T NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 1085 Fibrinogen C-terminal. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GTCTGTACACCATCTACCTGC 0.597000 33 81 0 0 0.002836 0 0 XDH 7498 broad.mit.edu 37 2 31562483 31562483 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:31562483G>A ENST00000379416.3 - 34 3694 c.3646C>T c.(3646-3648)Ccc>Tcc p.P1216S NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1216 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CTCCCCTCGGGGGAATAGTGT 0.612000 9 54 0 0 0.000673 0 0 NOC2L 26155 broad.mit.edu 37 1 880950 880950 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:880950G>A ENST00000327044.6 - 17 2050 c.2001C>T c.(1999-2001)ctC>ctT p.L667L NM_015658.3 NP_056473.2 Q9Y3T9 NOC2L_HUMAN nucleolar complex associated 2 homolog (S. cerevisiae) 667 Asp/Glu-rich (acidic). nucleolus protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1) 16 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2) TCAGGTCAAAGAGGTCTTTAA 0.562000 15 56 0 0 0.003163 0 0 WDR96 80217 broad.mit.edu 37 10 105938826 105938826 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:105938826C>T ENST00000357060.3 - 19 2536 c.2421G>A c.(2419-2421)agG>agA p.R807R WDR96_ENST00000278064.2_Silent_p.R738R|WDR96_ENST00000428666.1_Silent_p.R808R NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 807 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 TTATCTCTTTCCTTTTCTTGG 0.323000 8 30 0 0 0.003080 0 0 HCK 3055 broad.mit.edu 37 20 30672196 30672196 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:30672196G>A ENST00000534862.1 + 9 988 c.625G>A c.(625-627)Ggg>Agg p.G209R HCK_ENST00000375862.2_Missense_Mutation_p.G228R|HCK_ENST00000538448.1_Missense_Mutation_p.G208R|HCK_ENST00000520553.1_Missense_Mutation_p.G208R|HCK_ENST00000518730.1_Missense_Mutation_p.G207R|HCK_ENST00000375852.2_Missense_Mutation_p.G229R NM_001172132.1 NP_001165603.1 P08631 HCK_HUMAN hemopoietic cell kinase 229 SH2. interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction caveola|cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4) 36 UCEC - Uterine corpus endometrioid carcinoma (5;0.0241) TGTTCCAGAGGGGAACGACGG 0.597000 4 13 0 0 0.000602 0 0 PTGS1 5742 broad.mit.edu 37 9 125154661 125154661 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:125154661G>A ENST00000362012.2 + 11 1643 c.1638G>A c.(1636-1638)ccG>ccA p.P546P PTGS1_ENST00000540753.1_Silent_p.P484P|PTGS1_ENST00000373698.5_Silent_p.P437P|PTGS1_ENST00000223423.4_Silent_p.P509P NM_000962.2|NM_001271164.1|NM_080591.1 NP_000953.2|NP_001258093.1|NP_542158.1 P23219 PGH1_HUMAN prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) 546 cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 8 Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500) ACTGGAAGCCGAGCACATTTG 0.527000 21 91 0 0 0.002299 0 0 COL4A1 1282 broad.mit.edu 37 13 110831344 110831344 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:110831344G>A ENST00000375820.4 - 31 2505 c.2384C>T c.(2383-2385)tCt>tTt p.S795F NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 795 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) AACTCCTGGAGACCCCACGGA 0.587000 4 21 0 0 0.000248 0 0 RCSD1 92241 broad.mit.edu 37 1 167666945 167666945 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:167666945C>T ENST00000367854.3 + 6 1415 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S RCSD1_ENST00000537350.1_Missense_Mutation_p.P332S NM_052862.3 NP_443094.3 Q6JBY9 CPZIP_HUMAN RCSD domain containing 1 362 NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 24 all_hematologic(923;0.215) CGGAGATGTCCCCAAGCAGGA 0.607000 4 20 0 0 0.001168 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134471703 134471703 + Missense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:134471703T>A ENST00000372195.1 - 14 2407 c.2164A>T c.(2164-2166)Act>Tct p.T722S RAPGEF1_ENST00000372189.3_Missense_Mutation_p.T705S|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T723S Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 705 N-terminal Ras-GEF. activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) TCAGTCTCAGTAGCATGGACC 0.597000 10 29 0 0 0.000978 0 0 MYO18A 399687 broad.mit.edu 37 17 27493524 27493524 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:27493524G>A ENST00000527372.1 - 2 615 c.435C>T c.(433-435)agC>agT p.S145S MYO18A_ENST00000533112.1_Silent_p.S145S|MYO18A_ENST00000531253.1_Silent_p.S145S|MYO18A_ENST00000354329.4_Silent_p.S145S NM_078471.3 NP_510880.2 Q92614 MY18A_HUMAN myosin XVIIIA 145 anti-apoptosis|DNA metabolic process ER-Golgi intermediate compartment|myosin complex ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2) 36 Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031) TCTCATCCCGGCTACGCTGGG 0.627000 10 19 0 0 0.000673 0 0 BBS1 582 broad.mit.edu 37 11 66283164 66283164 + Splice_Site SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:66283164G>A ENST00000419755.3 + 6 669 c.590_splice c.e6-1 p.R197_splice BBS1_ENST00000529766.1_3'UTR|BBS1_ENST00000455748.2_Intron|BBS1_ENST00000393994.2_Splice_Site_p.R160_splice|BBS1_ENST00000318312.7_Splice_Site_p.R160_splice|BBS1_ENST00000537537.1_Splice_Site_p.R48_splice TTCCTTGCAGGGAGACGGCAG 0.622000 15 49 0 0 0.006122 0 0 CACNG2 10369 broad.mit.edu 37 22 36983516 36983516 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:36983516G>A ENST00000300105.6 - 2 1272 c.291C>T c.(289-291)ttC>ttT p.F97F NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 97 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 ACTCACGGAGGAAATATTCTG 0.512000 26 118 0 0 0.001061 0 0 FNDC7 163479 broad.mit.edu 37 1 109270531 109270531 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:109270531G>A ENST00000370017.3 + 7 1490 c.1213G>A c.(1213-1215)Gct>Act p.A405T FNDC7_ENST00000271311.2_Missense_Mutation_p.A406T NM_001144937.1 NP_001138409.1 Q5VTL7 FNDC7_HUMAN fibronectin type III domain containing 7 406 Fibronectin type-III 5. extracellular region breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1) 20 all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244) TGAAACCAAGGCTGTAGATGG 0.498000 21 67 0 0 0.001523 0 0 KBTBD6 89890 broad.mit.edu 37 13 41706525 41706525 + Missense_Mutation SNP C C A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:41706525C>A ENST00000379485.1 - 1 357 c.123G>T c.(121-123)aaG>aaT p.K41N KBTBD6_ENST00000499385.2_Missense_Mutation_p.K41N NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 41 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) GGGCCGTGTCCTTTAATTCCT 0.607000 25 90 1.66031e-10 3.53948e-10 0.003954 1 0 MBOAT1 154141 broad.mit.edu 37 6 20124763 20124763 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:20124763G>A ENST00000541730.1 - 7 931 c.336C>T c.(334-336)acC>acT p.T112T MBOAT1_ENST00000324607.7_Silent_p.T261T Q6ZNC8 MBOA1_HUMAN membrane bound O-acyltransferase domain containing 1 261 phospholipid biosynthetic process integral to membrane acyltransferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5) 20 all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109) OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454) TGACAGGAAAGGTCTTCGTTA 0.478000 15 94 0 0 0.001523 0 0 TTN 7273 broad.mit.edu 37 2 179395249 179395249 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:179395249C>T ENST00000589042.1 - 358 106317 c.106093G>A c.(106093-106095)Ggt>Agt p.G35365S TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G33724S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G26425S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G32797S|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G26300S|TTN-AS1_ENST00000591466.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G26492S|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 33724 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) GACGTTCCACCTTCACCAGAA 0.358000 13 54 0 0 0.003163 0 0 GSG1 83445 broad.mit.edu 37 12 13241841 13241841 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13241841C>T ENST00000337630.6 - 3 395 c.328G>A c.(328-330)Gag>Aag p.E110K GSG1_ENST00000432710.2_Missense_Mutation_p.E123K|GSG1_ENST00000324458.8_Missense_Mutation_p.E146K|GSG1_ENST00000351606.6_Missense_Mutation_p.E146K|GSG1_ENST00000457134.2_Missense_Mutation_p.E110K|GSG1_ENST00000396310.2_Missense_Mutation_p.E130K|GSG1_ENST00000537302.1_Missense_Mutation_p.E133K|GSG1_ENST00000396302.3_Missense_Mutation_p.E110K NM_153823.3 NP_722545.2 Q2KHT4 GSG1_HUMAN germ cell associated 1 133 endoplasmic reticulum membrane|integral to membrane endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1) 10 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) CGGCACCTCTCCCCTGAAACA 0.517000 7 43 0 0 0.004482 0 0 AGRN 375790 broad.mit.edu 37 1 979730 979730 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:979730G>A ENST00000379370.2 + 12 2215 c.2165G>A c.(2164-2166)gGg>gAg p.G722E NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 722 Kazal-like 8. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton p.G722V(1) breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) GGCTCAGATGGGGTCACCTAC 0.692000 5 20 0 0 0.001984 0 0 GBA3 57733 broad.mit.edu 37 4 22729317 22729317 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:22729317G>A ENST00000508166.1 + 0 160 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.1_RNA NM_020973.4 NP_066024.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGAAGATGGAGAGACCACTGA 0.408000 28 51 0 0 0.001061 0 0 KCNT1 57582 broad.mit.edu 37 9 138678108 138678108 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:138678108C>T ENST00000298480.5 + 29 3317 c.3243C>T c.(3241-3243)tcC>tcT p.S1081S KCNT1_ENST00000490355.2_Silent_p.S1059S|KCNT1_ENST00000491806.2_Silent_p.S1046S|KCNT1_ENST00000488444.2_Silent_p.S1060S|KCNT1_ENST00000487664.1_Silent_p.S1036S|KCNT1_ENST00000486577.2_Silent_p.S1038S|KCNT1_ENST00000371757.2_Silent_p.S1081S|KCNT1_ENST00000263604.3_Silent_p.S1055S B7ZVY4 B7ZVY4_HUMAN potassium channel, subfamily T, member 1 1081 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) CCTGGGGCTCCCGCGCTGGCA 0.731000 9 17 0 0 0.000978 0 0 TRIT1 54802 broad.mit.edu 37 1 40313247 40313247 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:40313247C>T ENST00000316891.5 - 7 915 c.901G>A c.(901-903)Gag>Aag p.E301K TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.E219K|TRIT1_ENST00000545233.1_Missense_Mutation_p.E55K|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.E301K NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 301 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) TTACTAGTCTCCAGTGTGCAT 0.458000 23 104 0 0 0.003954 0 0 NUP210 23225 broad.mit.edu 37 3 13360633 13360633 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:13360633G>A ENST00000254508.5 - 39 5584 c.5502C>T c.(5500-5502)ccC>ccT p.P1834P NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1834 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CAAGATCCCGGGGCGTGCAGA 0.642000 9 26 0 0 0.000673 0 0 PLD1 5337 broad.mit.edu 37 3 171321004 171321004 + Missense_Mutation SNP G G T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:171321004G>T ENST00000356327.5 - 26 3045 c.2975C>A c.(2974-2976)cCc>cAc p.P992H PLD1_ENST00000351298.4_Missense_Mutation_p.P1030H|PLD1_ENST00000342215.6_3'UTR NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 1030 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) AGCTCGAATGGGATCTTCCTT 0.433000 11 37 5.16669e-11 1.10353e-10 0.000978 1 0 OR5B3 441608 broad.mit.edu 37 11 58170825 58170825 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:58170825C>T ENST00000309403.2 - 1 57 c.58G>A c.(58-60)Gaa>Aaa p.E20K NM_001005469.1 NP_001005469.1 Q8NH48 OR5B3_HUMAN olfactory receptor, family 5, subfamily B, member 3 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1) 34 Esophageal squamous(5;0.0027) Breast(21;0.0778) ACCTGCAGTTCTGAGTCATTG 0.403000 6 47 0 0 0.004482 0 0 LOC220729 220729 broad.mit.edu 37 3 197348739 197348739 + RNA SNP G G C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:197348739G>C ENST00000418868.1 - 0 520 NR_003266.2 TAATTTTCTAGCTGTGAAAGA 0.398000 4 71 0 0 0.001168 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130413953 130413953 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:130413953C>T ENST00000529410.1 + 19 2061 c.1582C>T c.(1582-1584)Cac>Tac p.H528Y L3MBTL3_ENST00000368139.2_Missense_Mutation_p.H503Y|L3MBTL3_ENST00000361794.2_Missense_Mutation_p.H528Y|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.H503Y|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.H503Y|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.H528Y Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 528 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) TCCTGATATTCACCCTGTAGG 0.403000 12 46 0 0 0.001855 0 0 WIPF2 147179 broad.mit.edu 37 17 38430097 38430097 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:38430097C>T ENST00000323571.4 + 6 1266 c.1026C>T c.(1024-1026)ccC>ccT p.P342P WIPF2_ENST00000583130.1_Silent_p.P342P|WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000536600.1_Silent_p.P84P|WIPF2_ENST00000585043.1_Silent_p.P342P|WIPF2_ENST00000394103.3_Silent_p.P84P NM_133264.4 NP_573571.1 Q8TF74 WIPF2_HUMAN WAS/WASL interacting protein family, member 2 342 Poly-Pro. cytoplasm|cytoskeleton actin binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 30 CTCCCCCTCCCCCACCACCAT 0.612000 HNSCC(43;0.11) 10 39 0 0 0.000673 0 0 HLX 3142 broad.mit.edu 37 1 221058014 221058014 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:221058014G>A ENST00000366903.6 + 4 2936 c.1435G>A c.(1435-1437)Gag>Aag p.E479K HLX_ENST00000549319.1_Missense_Mutation_p.E265K NM_021958.3 NP_068777.1 Q14774 HLX_HUMAN H2.0-like homeobox 479 cell differentiation nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(131;0.00914) CAAAAGCCCCGAGCCAGCCCA 0.672000 11 24 0 0 0.001855 0 0 PCNXL2 80003 broad.mit.edu 37 1 233225933 233225933 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:233225933G>A ENST00000258229.8 - 23 4184 c.3950C>T c.(3949-3951)tCt>tTt p.S1317F NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1317 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AAGCATGGCAGAATCTGAGAA 0.323000 13 45 0 0 0.001855 0 0 RTN2 6253 broad.mit.edu 37 19 45997625 45997625 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:45997625G>A ENST00000245923.4 - 4 848 c.613C>T c.(613-615)Ccc>Tcc p.P205S RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000344680.4_Missense_Mutation_p.P205S NM_005619.4 NP_005610.1 O75298 RTN2_HUMAN reticulon 2 205 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CTGAGCTGGGGAGTCAAGACC 0.612000 10 34 0 0 0.000978 0 0 DNAH9 1770 broad.mit.edu 37 17 11535913 11535913 + Missense_Mutation SNP A A T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:11535913A>T ENST00000262442.3 + 8 1596 c.1528A>T c.(1528-1530)Aat>Tat p.N510Y DNAH9_ENST00000454412.2_Missense_Mutation_p.N510Y NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 510 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGACTTTGAAAATGACGTCTC 0.393000 10 48 0 0 0.000673 0 0 ADAMTSL1 92949 broad.mit.edu 37 9 18657708 18657708 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:18657708G>A ENST00000380548.4 + 8 1245 c.906G>A c.(904-906)agG>agA p.R302R ADAMTSL1_ENST00000327883.7_Silent_p.R302R|ADAMTSL1_ENST00000276935.6_Silent_p.R302R|ADAMTSL1_ENST00000380566.4_Silent_p.R302R NM_001040272.5 NP_001035362.3 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 302 proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(50;1.29e-17) ACCGATGGAGGGAGACGGATT 0.463000 8 58 0 0 0.000673 0 0 KRT12 3859 broad.mit.edu 37 17 39021105 39021105 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:39021105C>T ENST00000251643.4 - 3 783 c.760G>A c.(760-762)Gag>Aag p.E254K NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 254 Coil 1B.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) TTCAGGCTCTCGATCTGCATC 0.592000 25 95 0 0 0.003954 0 0 PPM1L 151742 broad.mit.edu 37 3 160786642 160786642 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:160786642C>T ENST00000498165.1 + 4 881 c.780C>T c.(778-780)atC>atT p.I260I PPM1L_ENST00000480117.1_3'UTR|PPM1L_ENST00000464260.1_Silent_p.I81I|PPM1L_ENST00000295839.9_Silent_p.I133I NM_139245.2 NP_640338.2 Q5SGD2 PPM1L_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1L 260 PP2C-like. protein dephosphorylation|sphingolipid metabolic process endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 13 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) TCCAGGGAATCCTGGCCATGT 0.517000 15 27 0 0 0.003163 0 0 CNGB1 1258 broad.mit.edu 37 16 57996902 57996902 + Missense_Mutation SNP G G C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:57996902G>C ENST00000564448.1 - 5 417 c.357C>G c.(355-357)caC>caG p.H119Q CNGB1_ENST00000311183.4_Missense_Mutation_p.H119Q|CNGB1_ENST00000251102.8_Missense_Mutation_p.H119Q Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 119 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CCGTGATGCTGTGAACAGGCT 0.667000 5 51 0 0 0.001168 0 0 MRPL46 26589 broad.mit.edu 37 15 89003039 89003039 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:89003039G>A ENST00000312475.4 - 4 686 c.645C>T c.(643-645)ttC>ttT p.F215F MRPL46_ENST00000559538.1_5'UTR NM_022163.3 NP_071446.2 Q9H2W6 RM46_HUMAN mitochondrial ribosomal protein L46 215 mitochondrion|ribosome hydrolase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Lung NSC(78;0.203) BRCA - Breast invasive adenocarcinoma(143;0.188) GGGGGAACTTGAATGTGTAGT 0.468000 11 34 0 0 0.000673 0 0 MYOM1 8736 broad.mit.edu 37 18 3214983 3214983 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:3214983G>A ENST00000400569.3 - 2 572 c.239C>T c.(238-240)tCt>tTt p.S80F MYOM1_ENST00000356443.4_Missense_Mutation_p.S80F|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.S80F P52179 MYOM1_HUMAN myomesin 1 80 striated muscle myosin thick filament structural constituent of muscle NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 ACTGACTTCAGAGCTCAGGGC 0.672000 12 21 0 0 0.001855 0 0 CER1 9350 broad.mit.edu 37 9 14722533 14722533 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:14722533G>A ENST00000380911.3 - 1 182 c.138C>T c.(136-138)aaC>aaT p.N46N NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 46 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) CTTCCTCATGGTTGCCTGTGG 0.567000 14 71 0 0 0.002450 0 0 ACADSB 36 broad.mit.edu 37 10 124810604 124810604 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:124810604G>A ENST00000358776.4 + 9 1044 c.1030G>A c.(1030-1032)Gaa>Aaa p.E344K ACADSB_ENST00000368869.4_Missense_Mutation_p.E242K NM_001609.3 NP_001600.1 P45954 ACDSB_HUMAN acyl-CoA dehydrogenase, short/branched chain 344 branched chain family amino acid catabolic process|fatty acid metabolic process mitochondrial matrix flavin adenine dinucleotide binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163) Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835) L-Isoleucine(DB00167) CACCCAGCTGGAAGCTGCAAG 0.458000 10 26 0 0 0.000978 0 0 CA14 23632 broad.mit.edu 37 1 150236068 150236068 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:150236068G>A ENST00000369111.4 + 9 1822 c.852G>A c.(850-852)tcG>tcA p.S284S NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 284 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) CAGGATCCTCGTATACCACAG 0.542000 28 184 0 0 0.001512 0 0 PRG2 5553 broad.mit.edu 37 11 57157409 57157409 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:57157409G>A ENST00000311862.5 - 2 82 c.9C>T c.(7-9)ctC>ctT p.L3L PRG2_ENST00000525955.1_Silent_p.L3L|PRG2_ENST00000533605.1_Silent_p.L3L|RP11-872D17.8_ENST00000529411.1_Silent_p.L108L NM_001243245.1|NM_002728.4 NP_001230174.1|NP_002719.3 proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGTAAGGGGAGTTTCATCT 0.428000 19 112 0 0 0.006122 0 0 SLC6A13 6540 broad.mit.edu 37 12 369078 369078 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:369078C>T ENST00000343164.4 - 2 193 c.141G>A c.(139-141)ggG>ggA p.G47G SLC6A13_ENST00000436453.1_Silent_p.G47G|SLC6A13_ENST00000445055.2_Silent_p.G47G NM_016615.4 NP_057699.2 Q9NSD5 S6A13_HUMAN solute carrier family 6 (neurotransmitter transporter), member 13 47 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1) 28 all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142) OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239) CAATGATCTCCCCAGCCACTG 0.542000 30 161 0 0 0.002836 0 0 ZNF98 148198 broad.mit.edu 37 19 22585612 22585612 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:22585612C>T ENST00000357774.5 - 3 353 c.232G>A c.(232-234)Gag>Aag p.E78K ZNF98_ENST00000601553.1_Missense_Mutation_p.E78K NM_001098626.1 NP_001092096.1 A6NK75 ZNF98_HUMAN zinc finger protein 98 78 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 37 all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244) GTTACCATCTCATGTCTCTTC 0.413000 13 120 0 0 0.001855 0 0 NEUROD4 58158 broad.mit.edu 37 12 55420829 55420829 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:55420829C>T ENST00000242994.3 + 2 984 c.606C>T c.(604-606)ttC>ttT p.F202F NM_021191.2 NP_067014.2 Q9HD90 NDF4_HUMAN neuronal differentiation 4 202 amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 41 TCCACAACTTCAACTATCAGT 0.498000 13 47 0 0 0.001855 0 0 PCSK9 255738 broad.mit.edu 37 1 55512226 55512226 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:55512226G>A ENST00000302118.5 + 3 720 c.430G>A c.(430-432)Gag>Aag p.E144K PCSK9_ENST00000543384.1_Intron|PCSK9_ENST00000452118.2_Missense_Mutation_p.E144K NM_174936.3 NP_777596.2 Q8NBP7 PCSK9_HUMAN proprotein convertase subtilisin/kexin type 9 144 cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity extracellular space|late endosome|lysosome|perinuclear region of cytoplasm apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 32 CGACTACATCGAGGAGGACTC 0.597000 84 328 0 0 0.003610 0 0 SSTR1 6751 broad.mit.edu 37 14 38679658 38679658 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:38679658C>T ENST00000267377.2 + 3 1681 c.1064C>T c.(1063-1065)gCc>gTc p.A355V NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 355 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) GACTATTACGCCACCGCGCTC 0.582000 12 56 0 0 0.001368 0 0 CSMD3 114788 broad.mit.edu 37 8 114031299 114031299 + Nonsense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:114031299G>A ENST00000297405.5 - 6 1271 c.1027C>T c.(1027-1029)Caa>Taa p.Q343* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q303*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q343*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q343* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 343 CUB 2. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTATACCTTGATAGGGAGCA 0.343000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 13 92 0 0 0.002450 0 0 CYTH4 27128 broad.mit.edu 37 22 37708184 37708184 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:37708184G>A ENST00000248901.6 + 12 1268 c.1081G>A c.(1081-1083)Gag>Aag p.E361K NM_013385.3 NP_037517.1 Q9UIA0 CYH4_HUMAN cytohesin 4 361 PH. regulation of ARF protein signal transduction|regulation of cell adhesion cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1) 15 CACCAGTGCCGAGGAACGTGA 0.612000 13 34 0 0 0.002450 0 0 SEC22A 26984 broad.mit.edu 37 3 122964853 122964853 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:122964853C>T ENST00000309934.4 + 4 1545 c.649C>T c.(649-651)Ctc>Ttc p.L217F SEC22A_ENST00000492595.1_Missense_Mutation_p.L217F|SEC22A_ENST00000481965.2_Intron NM_012430.4 NP_036562.2 Q96IW7 SC22A_HUMAN SEC22 vesicle trafficking protein homolog A (S. cerevisiae) 217 ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|integral to membrane transporter activity NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1) 10 GBM - Glioblastoma multiforme(114;0.0548) TATAGAAAGTCTCCTGCAGGT 0.388000 11 54 0 0 0.000673 0 0 YY1AP1 55249 broad.mit.edu 37 1 155630502 155630502 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:155630502G>A ENST00000368340.5 - 10 1661 c.1553C>T c.(1552-1554)cCc>cTc p.P518L YY1AP1_ENST00000295566.4_Missense_Mutation_p.P446L|YY1AP1_ENST00000311573.5_Missense_Mutation_p.P369L|MSTO1_ENST00000452804.2_Intron|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000355499.4_Missense_Mutation_p.P400L|YY1AP1_ENST00000347088.5_Missense_Mutation_p.P400L|YY1AP1_ENST00000407221.1_Missense_Mutation_p.P369L|YY1AP1_ENST00000535662.1_Missense_Mutation_p.P246L|YY1AP1_ENST00000404643.1_Missense_Mutation_p.P380L|YY1AP1_ENST00000368330.2_Missense_Mutation_p.P400L|YY1AP1_ENST00000368339.5_Missense_Mutation_p.P538L|YY1AP1_ENST00000361831.5_Missense_Mutation_p.P389L|YY1AP1_ENST00000359205.5_Missense_Mutation_p.P389L NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGCCTTCTTGGGGAAACGGTC 0.527000 35 84 0 0 0.003271 0 0 CCL26 10344 broad.mit.edu 37 7 75401322 75401322 + Splice_Site SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:75401322C>T ENST00000394905.2 - 3 331 c.e3-1 CCL26_ENST00000005180.4_Splice_Site NM_006072.4 NP_006063.1 Q9Y258 CCL26_HUMAN chemokine (C-C motif) ligand 26 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity lung(3) 3 TCACTCCCACCTAAAAATCAG 0.552000 8 40 0 0 0.000673 0 0 PMM1 5372 broad.mit.edu 37 22 41979975 41979975 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:41979975G>A ENST00000216259.7 - 5 546 c.462C>T c.(460-462)tcC>tcT p.S154S NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 154 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 TGTCCAGTTCGGAGAACTCGA 0.512000 14 62 0 0 0.006122 0 0 IFNA16 3449 broad.mit.edu 37 9 21216974 21216974 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:21216974C>T ENST00000380216.1 - 1 336 c.331G>A c.(331-333)Gaa>Aaa p.E111K NM_002173.2 NP_002164.1 P05015 IFN16_HUMAN interferon, alpha 16 111 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1) 13 Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116) TGGAAAAGTTCAATGTAGAAT 0.488000 26 95 0 0 0.003954 0 0 C15orf39 56905 broad.mit.edu 37 15 75499697 75499697 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:75499697C>T ENST00000360639.2 + 2 1628 c.1308C>T c.(1306-1308)gcC>gcT p.A436A C15orf39_ENST00000567617.1_Silent_p.A436A|C15orf39_ENST00000394987.4_Silent_p.A436A Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 436 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CACAGGAAGCCGAAGAGAAGA 0.642000 10 47 0 0 0.000443 0 0 IGHG4 3503 broad.mit.edu 37 14 106090879 106090879 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:106090879G>A ENST00000390543.2 - 0 917 CATGCATCACGGAGCATGAGA 0.622000 27 174 0 0 0.005443 0 0 HHIPL1 84439 broad.mit.edu 37 14 100123373 100123373 + Missense_Mutation SNP C C G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:100123373C>G ENST00000330710.5 + 3 1037 c.939C>G c.(937-939)caC>caG p.H313Q HHIPL1_ENST00000357223.2_Missense_Mutation_p.H313Q NM_001127258.1 NP_001120730.1 Q96JK4 HIPL1_HUMAN HHIP-like 1 313 carbohydrate metabolic process extracellular region|membrane oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2) 15 Melanoma(154;0.128) CCTCAAACCACAACGGGGGCC 0.532000 53 197 0 0 0.003610 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498622 118498622 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:118498622C>T ENST00000361417.2 + 7 1494 c.1083C>T c.(1081-1083)atC>atT p.I361I PHLDB1_ENST00000356063.5_Silent_p.I361I NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 361 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) TGGTGGCCATCAGCCTGAGTG 0.632000 12 26 0 0 0.000978 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594277 140594277 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140594277G>A ENST00000341948.4 + 1 769 c.582G>A c.(580-582)gaG>gaA p.E194E NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 194 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATACCCAGAGCTGGTGCTGG 0.522000 8 41 0 0 0.000443 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715964 13715964 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13715964G>A ENST00000279593.3 - 13 4417 c.4208C>T c.(4207-4209)tCc>tTc p.S1403F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1403 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) GAAGAAGTAGGATTTGCTGCC 0.617000 18 17 0 0 0.001216 0 0 CACHD1 57685 broad.mit.edu 37 1 65129383 65129383 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:65129383C>T ENST00000371073.2 + 14 1957 c.1957C>T c.(1957-1959)Ccc>Tcc p.P653S CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.P602S Q5VU97 CAHD1_HUMAN cache domain containing 1 653 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 TTCAGAAAGTCCCACCATCAT 0.527000 36 184 0 0 0.004289 0 0 MYBPC3 4607 broad.mit.edu 37 11 47361206 47361206 + Missense_Mutation SNP G G A rs3729946 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:47361206G>A ENST00000545968.1 - 21 2117 c.2063C>T c.(2062-2064)aCg>aTg p.T688M MYBPC3_ENST00000399249.2_Missense_Mutation_p.T688M|MYBPC3_ENST00000256993.4_Missense_Mutation_p.T687M NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 687 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CAGTACCTGCGTGATAGCCTT 0.552000 4 3 0 0 0.000248 0 0 SPTBN5 51332 broad.mit.edu 37 15 42167048 42167048 + Missense_Mutation SNP G G C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:42167048G>C ENST00000320955.6 - 23 4721 c.4494C>G c.(4492-4494)caC>caG p.H1498Q NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1498 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) ACCTCCGGAGGTGCTTCTGGG 0.637000 9 15 0 0 0.000443 0 0 NEB 4703 broad.mit.edu 37 2 152520064 152520064 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:152520064C>T ENST00000397345.3 - 45 5963 c.5761G>A c.(5761-5763)Gat>Aat p.D1921N NEB_ENST00000603639.1_Missense_Mutation_p.D1921N|NEB_ENST00000604864.1_Missense_Mutation_p.D1921N|NEB_ENST00000409198.1_Missense_Mutation_p.D1921N|NEB_ENST00000172853.10_Missense_Mutation_p.D1921N|NEB_ENST00000427231.2_Missense_Mutation_p.D1921N NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 1921 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TCACGTACATCACTTTGAATC 0.408000 4 19 0 0 0.000248 0 0 CACNA1H 8912 broad.mit.edu 37 16 1245940 1245940 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:1245940C>T ENST00000348261.5 + 5 808 c.560C>T c.(559-561)tCg>tTg p.S187L CACNA1H_ENST00000358590.4_Missense_Mutation_p.S187L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.S187L NM_021098.2 NP_066921.2 O95180 CAC1H_HUMAN calcium channel, voltage-dependent, T type, alpha 1H subunit 187 aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(4)|endometrium(5)|kidney(2)|lung(23) 34 Hepatocellular(780;0.00369) Flunarizine(DB04841)|Mibefradil(DB01388) ATGGAGTACTCGTTGGACGGA 0.682000 16 50 0 0 0.006122 0 0 CAPN9 10753 broad.mit.edu 37 1 230907770 230907770 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:230907770G>A ENST00000354537.1 + 7 882 c.800G>A c.(799-801)cGa>cAa p.R267Q CAPN9_ENST00000366666.2_Missense_Mutation_p.R204Q|CAPN9_ENST00000271971.2_Missense_Mutation_p.R267Q|RP11-99J16__A.2_ENST00000412344.1_RNA NM_016452.1 NP_057536.1 O14815 CAN9_HUMAN calpain 9 267 Calpain catalytic. digestion|proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 25 Breast(184;0.0871)|Ovarian(103;0.183) Prostate(94;0.167) GTAAGCTTCCGAGGCCAGAGA 0.537000 16 110 0 0 0.004990 0 0 ABCD2 225 broad.mit.edu 37 12 40001459 40001459 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:40001459C>T ENST00000308666.3 - 3 1313 c.1178G>A c.(1177-1179)cGa>cAa p.R393Q NM_005164.3 NP_005155.1 Q9UBJ2 ABCD2_HUMAN ATP-binding cassette, sub-family D (ALD), member 2 393 ABC transmembrane type-1. fatty acid metabolic process|transport ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane ATP binding|ATPase activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 52 CAGTAAATTTCGAGCAGTGGT 0.323000 18 60 0 0 0.001523 0 0 ZNF705A 440077 broad.mit.edu 37 12 8330019 8330019 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:8330019G>A ENST00000359286.4 + 5 832 c.743G>A c.(742-744)aGa>aAa p.R248K NM_001004328.2|NM_001278713.1 NP_001004328.1|NP_001265642.1 Q6ZN79 Z705A_HUMAN zinc finger protein 705A 248 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(3)|stomach(4) 18 Kidney(36;0.0877) AGACATGAGAGAACTCACCTT 0.388000 33 126 0 0 0.002852 0 0 SAMD3 154075 broad.mit.edu 37 6 130476170 130476170 + Splice_Site SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:130476170C>T ENST00000368134.2 - 11 1431 c.822_splice c.e11-1 p.E275_splice SAMD3_ENST00000457563.2_Splice_Site_p.E299_splice|SAMD3_ENST00000439090.2_Splice_Site_p.E275_splice|SAMD3_ENST00000437477.2_Splice_Site_p.E275_splice NM_001258275.1 NP_001245204.1 Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 275 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) ACAGCTTCTTCCTGCAAAACA 0.353000 6 40 0 0 0.001168 0 0 ALOX15B 247 broad.mit.edu 37 17 7945753 7945753 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:7945753C>T ENST00000380183.4 + 4 655 c.516C>T c.(514-516)ctC>ctT p.L172L ALOX15B_ENST00000572022.1_Silent_p.L172L|ALOX15B_ENST00000380173.2_Silent_p.L172L|ALOX15B_ENST00000573359.1_Silent_p.L172L NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 172 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 ACTTGGAGCTCAATATCAAAT 0.547000 8 57 0 0 0.003080 0 0 HCN1 348980 broad.mit.edu 37 5 45396729 45396729 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:45396729G>A ENST00000303230.4 - 4 1152 c.1095C>T c.(1093-1095)gcC>gcT p.A365A NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 365 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 TGCTGACTGGGGCTTGGGCTC 0.493000 8 39 0 0 0.003080 0 0 CRHBP 1393 broad.mit.edu 37 5 76259220 76259220 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:76259220G>A ENST00000274368.4 + 6 1168 c.746G>A c.(745-747)gGa>gAa p.G249E CRHBP_ENST00000514258.1_3'UTR NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 249 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) CTGCTGGGAGGAACTGGATTG 0.463000 88 397 0 0 0.003610 0 0 F2 2147 broad.mit.edu 37 11 46747451 46747451 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:46747451G>A ENST00000311907.5 + 7 658 c.602G>A c.(601-603)gGc>gAc p.G201D F2_ENST00000530231.1_Missense_Mutation_p.G201D NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 201 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 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) CGCTCCGAAGGCTCCAGTGTG 0.622000 30 77 0 0 0.001786 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158066807 158066807 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:158066807C>T ENST00000359775.5 + 6 1680 c.791C>T c.(790-792)tCc>tTc p.S264F ZDHHC14_ENST00000414563.2_Missense_Mutation_p.S264F|ZDHHC14_ENST00000341375.8_3'UTR Q8IZN3 ZDH14_HUMAN zinc finger, DHHC-type containing 14 264 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) TCTGTCTGGTCCATCGTTGGC 0.557000 4 32 0 0 0.000602 0 0 GOLGB1 2804 broad.mit.edu 37 3 121417610 121417610 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:121417610C>T ENST00000393667.3 - 13 1870 c.1760G>A c.(1759-1761)gGa>gAa p.G587E GOLGB1_ENST00000340645.5_Missense_Mutation_p.G582E NM_001256486.1 NP_001243415.1 Q14789 GOGB1_HUMAN golgin B1 582 Golgi organization ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane protein binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13) 119 GBM - Glioblastoma multiforme(114;0.0989) AGCCCTTTTTCCCTGGAGCTG 0.358000 4 34 0 0 0.000248 0 0 GRHL1 29841 broad.mit.edu 37 2 10098918 10098918 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:10098918C>T ENST00000324907.9 + 3 347 c.211C>T c.(211-213)Cca>Tca p.P71S GRHL1_ENST00000405379.2_Missense_Mutation_p.P71S|GRHL1_ENST00000324883.5_5'UTR NM_198182.2 NP_937825.2 Q9NZI5 GRHL1_HUMAN grainyhead-like 1 (Drosophila) 71 Transcription activation. cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi apparatus|nucleus DNA binding cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246) ATATCAGGTTCCAAGAGAGAG 0.408000 18 52 0 0 0.001216 0 0 UGT3A1 133688 broad.mit.edu 37 5 35991284 35991284 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:35991284G>A ENST00000274278.3 - 1 416 c.59C>T c.(58-60)tCa>tTa p.S20L UGT3A1_ENST00000333811.4_Intron|UGT3A1_ENST00000503189.1_Missense_Mutation_p.S20L|UGT3A1_ENST00000507113.1_Missense_Mutation_p.S20L|UGT3A1_ENST00000513233.1_5'UTR NM_152404.3 NP_689617.3 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 20 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GGCAGCCTCTGAGAGCAGGAC 0.607000 17 90 0 0 0.006122 0 0 PTPN11 5781 broad.mit.edu 37 12 112926862 112926862 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:112926862C>T ENST00000351677.2 + 13 1680 c.1482C>T c.(1480-1482)atC>atT p.I494I NM_002834.3 NP_002825.3 Q06124 PTN11_HUMAN protein tyrosine phosphatase, non-receptor type 11 498 Tyrosine-protein phosphatase. axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol non-membrane spanning protein tyrosine phosphatase activity|protein binding NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3) 451 CCAAAACCATCCAGATGGTGC 0.453000 Mis """JMML, AML, MDS""" Noonan Syndrome Noonan syndrome 28 110 0 0 0.001512 0 0 SPOCD1 90853 broad.mit.edu 37 1 32263882 32263882 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:32263882C>T ENST00000360482.2 - 9 2200 c.2071G>A c.(2071-2073)Gac>Aac p.D691N SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.D184N|SPOCD1_ENST00000533231.1_Missense_Mutation_p.D691N NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 691 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CGCACCAGGTCGTAGGGGGTG 0.647000 13 96 0 0 0.004007 0 0 CACNG3 10368 broad.mit.edu 37 16 24358126 24358126 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:24358126G>A ENST00000005284.3 + 2 1485 c.283G>A c.(283-285)Gaa>Aaa p.E95K NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 95 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) GGACACAGCCGAATATCTCCT 0.557000 15 27 0 0 0.004007 0 0 KCNH4 23415 broad.mit.edu 37 17 40332925 40332925 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:40332925G>A ENST00000264661.3 - 1 371 c.39C>T c.(37-39)acC>acT p.T13T KCNH4_ENST00000607371.1_Silent_p.T13T NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 13 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) TGTCCAGGAAGGTGTTTTGCG 0.692000 27 104 0 0 0.001786 0 0 KLRC2 3822 broad.mit.edu 37 12 10588483 10588483 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:10588483C>T ENST00000381902.2 - 1 109 c.103G>A c.(103-105)Gaa>Aaa p.E35K KLRC2_ENST00000381901.1_Missense_Mutation_p.E35K|NKG2-E_ENST00000539033.1_Missense_Mutation_p.E35K|KLRC2_ENST00000536833.2_Intron NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 35 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 ATTTCCTGTTCGGTTCCTGAA 0.383000 32 151 0 0 0.002836 0 0 MUC16 94025 broad.mit.edu 37 19 9064689 9064689 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9064689G>A ENST00000397910.4 - 3 22960 c.22757C>T c.(22756-22758)tCc>tTc p.S7586F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7588 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 GCCTGACATGGATGTTCTGCT 0.488000 19 72 0 0 0.001523 0 0 RERE 473 broad.mit.edu 37 1 8420694 8420694 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:8420694G>A ENST00000337907.3 - 19 3507 c.2873C>T c.(2872-2874)tCc>tTc p.S958F RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Missense_Mutation_p.S404F|RERE_ENST00000400908.2_Missense_Mutation_p.S958F|RERE_ENST00000377464.1_Missense_Mutation_p.S690F NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 958 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GGCATTCATGGAGAAGGGTGA 0.682000 8 34 0 0 0.000443 0 0 WDR60 55112 broad.mit.edu 37 7 158715154 158715154 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:158715154C>T ENST00000407559.3 + 16 2166 c.2008C>T c.(2008-2010)Ccc>Tcc p.P670S NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 670 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) GAGCTTTGTGCCCCTGCTGGA 0.517000 8 32 0 0 0.004482 0 0 PPARA 5465 broad.mit.edu 37 22 46611088 46611088 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:46611088C>T ENST00000396000.2 + 4 492 c.227C>T c.(226-228)tCg>tTg p.S76L PPARA_ENST00000407236.1_Missense_Mutation_p.S76L|PPARA_ENST00000434345.2_Missense_Mutation_p.S76L|PPARA_ENST00000262735.5_Missense_Mutation_p.S76L|PPARA_ENST00000402126.1_Missense_Mutation_p.S76L Q07869 PPARA_HUMAN peroxisome proliferator-activated receptor alpha 76 fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 15 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00522) Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641) TCACCAGCTTCGAGCCCCTCC 0.547000 6 29 0 0 0.001168 0 0 MUC17 140453 broad.mit.edu 37 7 100694923 100694923 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100694923C>T ENST00000306151.4 + 8 12968 c.12904C>T c.(12904-12906)Caa>Taa p.Q4302* NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4302 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CACTGGCACCCAAGTGCAAAA 0.537000 9 36 0 0 0.000673 0 0 ESRRB 2103 broad.mit.edu 37 14 76906080 76906080 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:76906080G>A ENST00000380887.2 + 2 456 c.384G>A c.(382-384)aaG>aaA p.K128K ESRRB_ENST00000509242.1_Silent_p.K128K|ESRRB_ENST00000261532.7_Silent_p.K128K|ESRRB_ENST00000556177.1_Silent_p.K128K|ESRRB_ENST00000507951.1_3'UTR A2VDJ2 A2VDJ2_HUMAN estrogen-related receptor beta 128 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(234;0.0213) CCTTCTTCAAGAGGACTATCC 0.647000 8 18 0 0 0.000443 0 0 SPP1 6696 broad.mit.edu 37 4 88903719 88903719 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:88903719C>T ENST00000237623.7 + 6 722 c.574C>T c.(574-576)Ccc>Tcc p.P192S SPP1_ENST00000360804.4_Missense_Mutation_p.P179S|SPP1_ENST00000395080.3_Missense_Mutation_p.P206S|SPP1_ENST00000509659.1_3'UTR NM_000582.2 NP_000573.1 P10451 OSTP_HUMAN secreted phosphoprotein 1 206 biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D extracellular space cytokine activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;9.87e-05) CAAGGCCATCCCCGTTGCCCA 0.527000 9 72 0 0 0.000978 0 0 HBBP1 3044 broad.mit.edu 37 11 5264439 5264439 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:5264439G>A ENST00000454892.1 - 0 57 NR_001589.1 TTTTCCGAAGGAGATCAGCAC 0.493000 10 16 0 0 0.000673 0 0 ERBB4 2066 broad.mit.edu 37 2 212522512 212522512 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:212522512C>T ENST00000342788.4 - 16 2223 c.1913G>A c.(1912-1914)tGg>tAg p.W638* ERBB4_ENST00000402597.1_Intron|ERBB4_ENST00000436443.1_Nonsense_Mutation_p.W638* NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 638 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.W638L(1) NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) ATGGCCCGTCCATGGGTAGTA 0.428000 TSP Lung(8;0.080) 14 73 0 0 0.003163 0 0 IGHV3-73 28409 broad.mit.edu 37 14 107211365 107211365 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:107211365G>A ENST00000390636.2 - 0 106 TAGCAACAAGGAAAACCCAGC 0.507000 43 150 0 0 0.003610 0 0 ACSL6 23305 broad.mit.edu 37 5 131290046 131290046 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:131290046G>A ENST00000379264.2 - 21 2158 c.2050C>T c.(2050-2052)Cat>Tat p.H684Y ACSL6_ENST00000379244.1_Missense_Mutation_p.H659Y|AC034228.4_ENST00000446275.1_RNA|ACSL6_ENST00000431707.1_Missense_Mutation_p.H639Y|ACSL6_ENST00000379272.2_Missense_Mutation_p.H674Y|ACSL6_ENST00000379240.1_Missense_Mutation_p.H659Y|ACSL6_ENST00000544770.1_Missense_Mutation_p.H568Y|ACSL6_ENST00000357096.1_Missense_Mutation_p.H584Y|ACSL6_ENST00000379255.1_Missense_Mutation_p.H584Y|ACSL6_ENST00000379249.3_Intron|ACSL6_ENST00000543479.1_Missense_Mutation_p.H659Y|ACSL6_ENST00000379246.1_Missense_Mutation_p.H670Y|ACSL6_ENST00000296869.4_Missense_Mutation_p.H684Y NM_001009185.2 NP_001009185.1 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 659 fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 35 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) ATGTCAGAATGGATGTGAATG 0.363000 8 23 0 0 0.000673 0 0 SUPT5H 6829 broad.mit.edu 37 19 39948936 39948936 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:39948936G>A ENST00000599117.1 + 6 677 c.310G>A c.(310-312)Gag>Aag p.E104K SUPT5H_ENST00000402194.2_Intron|SUPT5H_ENST00000598725.1_Missense_Mutation_p.E104K|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E104K|SUPT5H_ENST00000359191.6_Intron O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) 104 Glu-rich. cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCAAGTAGAAGAGATTGAAGG 0.532000 35 120 0 0 0.004289 0 0 CCL20 6364 broad.mit.edu 37 2 228681022 228681022 + Splice_Site SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:228681022G>A ENST00000409189.3 + 3 258 c.e3-1 CCL20_ENST00000358813.4_Splice_Site|CCL20_ENST00000473642.1_Splice_Site NM_001130046.1|NM_004591.2 NP_001123518.1|NP_004582.1 P78556 CCL20_HUMAN chemokine (C-C motif) ligand 20 cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction extracellular space chemokine activity cervix(1)|lung(2) 3 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115) TGATTTTTCAGCTTTCACACA 0.333000 7 29 0 0 0.000443 0 0 TMEM67 91147 broad.mit.edu 37 8 94809639 94809639 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:94809639C>T ENST00000453321.3 + 20 2099 c.2041C>T c.(2041-2043)Cag>Tag p.Q681* TMEM67_ENST00000409623.3_Nonsense_Mutation_p.Q600* NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 681 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) GAATGAAATTCAGACTGTGAG 0.363000 12 83 0 0 0.000978 0 0 CAPSL 133690 broad.mit.edu 37 5 35910583 35910583 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:35910583C>T ENST00000397367.2 - 3 326 c.200G>A c.(199-201)gGg>gAg p.G67E CAPSL_ENST00000397366.1_Missense_Mutation_p.G67E|CAPSL_ENST00000514524.1_Missense_Mutation_p.G67E NM_144647.3 NP_653248.3 Q8WWF8 CAPSL_HUMAN calcyphosine-like 67 EF-hand 1. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) ATCATTTAACCCTTTCATAAA 0.318000 11 51 0 0 0.000673 0 0 KDM7A 80853 broad.mit.edu 37 7 139827337 139827337 + Missense_Mutation SNP G G T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:139827337G>T ENST00000397560.2 - 5 703 c.606C>A c.(604-606)gaC>gaA p.D202E JHDM1D_ENST00000006967.5_Missense_Mutation_p.D202E NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 202 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TCATTTTGCTGTCTGCCTGCC 0.368000 27 108 1.55811e-20 3.34049e-20 0.001512 1 0 CCDC63 160762 broad.mit.edu 37 12 111291224 111291224 + Missense_Mutation SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:111291224A>G ENST00000308208.5 + 3 267 c.25A>G c.(25-27)Aga>Gga p.R9G CCDC63_ENST00000545036.1_5'UTR|CCDC63_ENST00000552694.1_Intron|CCDC63_ENST00000550317.1_Intron NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 9 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GAAGAACAGGAGAAAAGACTC 0.577000 8 31 0 0 0.000673 0 0 CCDC68 80323 broad.mit.edu 37 18 52596077 52596077 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:52596077C>T ENST00000591504.1 - 8 911 c.637G>A c.(637-639)Gaa>Aaa p.E213K CCDC68_ENST00000432185.1_Missense_Mutation_p.E213K|CCDC68_ENST00000337363.4_Missense_Mutation_p.E213K NM_025214.2 NP_079490.1 Q9H2F9 CCD68_HUMAN coiled-coil domain containing 68 213 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1) 14 Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21) AGCTTGTTTTCCAAAGACAGT 0.378000 5 18 0 0 0.000602 0 0 XIRP2 129446 broad.mit.edu 37 2 168101234 168101234 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:168101234C>T ENST00000409195.1 + 9 3421 c.3332C>T c.(3331-3333)tCg>tTg p.S1111L XIRP2_ENST00000295237.9_Missense_Mutation_p.S1111L|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S889L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 936 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 GAAAAAGTTTCGTTAATGACC 0.368000 5 14 0 0 0.001984 0 0 NLRP12 91662 broad.mit.edu 37 19 54307240 54307240 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:54307240G>A ENST00000324134.6 - 6 2719 c.2551C>T c.(2551-2553)Ctg>Ttg p.L851L NLRP12_ENST00000535162.1_Silent_p.L851L|NLRP12_ENST00000351894.4_Silent_p.L851L|NLRP12_ENST00000391772.1_Silent_p.L852L|NLRP12_ENST00000345770.5_Silent_p.L852L|NLRP12_ENST00000391775.3_Silent_p.L851L|NLRP12_ENST00000391773.1_Silent_p.L852L|NLRP12_ENST00000354278.3_Silent_p.L851L NM_001277126.1|NM_144687.2 NP_001264055.1|NP_653288.1 P59046 NAL12_HUMAN NLR family, pyrin domain containing 12 851 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) GGGTGCCTCAGTCCCTGGCAT 0.483000 7 42 0 0 0.004482 0 0 MSR1 4481 broad.mit.edu 37 8 16026296 16026296 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:16026296C>T ENST00000350896.3 - 4 498 c.301G>A c.(301-303)Gga>Aga p.G101R MSR1_ENST00000381998.4_Missense_Mutation_p.G101R|MSR1_ENST00000445506.2_Missense_Mutation_p.G119R|MSR1_ENST00000262101.5_Missense_Mutation_p.G101R|MSR1_ENST00000355282.2_Missense_Mutation_p.G101R|MSR1_ENST00000536385.1_Intron NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 101 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity p.G101R(2) haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) CTGTCATTTCCTTTTCCCGTG 0.373000 21 82 0 0 0.001523 0 0 PIK3R5 23533 broad.mit.edu 37 17 8808203 8808203 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:8808203G>A ENST00000447110.1 - 5 427 c.303C>T c.(301-303)ctC>ctT p.L101L PIK3R5_ENST00000581552.1_Silent_p.L101L|PIK3R5_ENST00000584803.1_Silent_p.L101L NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 101 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CCTTCAGAAGGAGATCCGAGT 0.537000 10 52 0 0 0.000673 0 0 PSEN2 5664 broad.mit.edu 37 1 227069743 227069743 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:227069743C>T ENST00000366782.1 + 4 734 c.234C>T c.(232-234)gcC>gcT p.A78A PSEN2_ENST00000340188.4_Silent_p.A45A|PSEN2_ENST00000366783.3_Silent_p.A45A|PSEN2_ENST00000422240.2_Silent_p.A45A|PSEN2_ENST00000391872.2_Silent_p.A78A P49810 PSN2_HUMAN presenilin 2 (Alzheimer disease 4) 45 amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc aspartic-type endopeptidase activity|protein binding cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1) 20 Prostate(94;0.0771) AGAACACTGCCCAGTGGGTAG 0.607000 22 29 0 0 0.003330 0 0 PPIAL4G 644591 broad.mit.edu 37 1 143767485 143767485 + Silent SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:143767485A>G ENST00000419275.1 - 1 396 c.364T>C c.(364-366)Ttg>Ctg p.L122L NM_001123068.1 NP_001116540.1 A2BFH1 PAL4G_HUMAN peptidylprolyl isomerase A (cyclophilin A)-like 4G 122 PPIase cyclophilin-type. protein folding cytoplasm peptidyl-prolyl cis-trans isomerase activity breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1) 14 TTGCCATCCAACCACTCAGTC 0.483000 53 421 0 0 0.003610 0 0 ADCY4 196883 broad.mit.edu 37 14 24800431 24800431 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:24800431C>T ENST00000396747.3 - 5 895 c.8G>A c.(7-9)aGa>aAa p.R3K ADCY4_ENST00000418030.2_Silent_p.K267K|ADCY4_ENST00000554068.2_Silent_p.K267K|ADCY4_ENST00000310677.4_Silent_p.K267K Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 0 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) CCTGGTGCCTCTTGACATAGA 0.602000 19 59 0 0 0.001216 0 0 FAM91A1 157769 broad.mit.edu 37 8 124797968 124797968 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:124797968G>A ENST00000334705.7 + 11 1195 c.949G>A c.(949-951)Gta>Ata p.V317I FAM91A1_ENST00000521166.1_Missense_Mutation_p.V317I NM_144963.2 NP_659400.2 Q658Y4 F91A1_HUMAN family with sequence similarity 91, member A1 317 breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00192) TGTTCCATCCGTAAACAGATT 0.289000 18 97 0 0 0.000958 0 0 POF1B 79983 broad.mit.edu 37 X 84622723 84622723 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:84622723G>A ENST00000262753.4 - 3 476 c.331C>T c.(331-333)Cta>Tta p.L111L POF1B_ENST00000373145.3_Silent_p.L111L NM_024921.3 NP_079197.3 Q8WVV4 POF1B_HUMAN premature ovarian failure, 1B 111 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GTTATATGTAGAGTACTTGGG 0.318000 8 22 0 0 0.000673 0 0 FCRL1 115350 broad.mit.edu 37 1 157767989 157767989 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:157767989G>A ENST00000358292.3 - 7 1010 c.959C>T c.(958-960)tCa>tTa p.S320L FCRL1_ENST00000368176.3_Missense_Mutation_p.S359L|FCRL1_ENST00000491942.1_Missense_Mutation_p.S359L|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 359 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGGGTAGGTGAGTTGAGGTA 0.507000 10 61 0 0 0.000978 0 0 SPRED2 200734 broad.mit.edu 37 2 65540935 65540935 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:65540935C>T ENST00000356388.4 - 6 1146 c.957G>A c.(955-957)gaG>gaA p.E319E SPRED2_ENST00000443619.2_Silent_p.E316E NM_181784.2 NP_861449.2 Q7Z698 SPRE2_HUMAN sprouty-related, EVH1 domain containing 2 319 SPR. inactivation of MAPK activity|multicellular organismal development transport vesicle membrane stem cell factor receptor binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3) 34 GGCGGTTCTCCTCGTGGTTGA 0.667000 27 99 0 0 0.002096 0 0 APCDD1 147495 broad.mit.edu 37 18 10471953 10471953 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:10471953C>T ENST00000355285.4 + 3 1023 c.669C>T c.(667-669)ctC>ctT p.L223L APCDD1_ENST00000584596.1_3'UTR|APCDD1_ENST00000578882.1_Intron NM_153000.4 NP_694545.1 Q8J025 APCD1_HUMAN adenomatosis polyposis coli down-regulated 1 223 hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to plasma membrane Wnt-protein binding NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 READ - Rectum adenocarcinoma(15;0.08) ACCACAACCTCGACCACCTGG 0.572000 15 100 0 0 0.003163 0 0 VPS13A 23230 broad.mit.edu 37 9 79922920 79922920 + Missense_Mutation SNP G G T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:79922920G>T ENST00000360280.3 + 35 4280 c.4020G>T c.(4018-4020)tgG>tgT p.W1340C VPS13A_ENST00000376634.4_Missense_Mutation_p.W1340C|VPS13A_ENST00000376636.3_Missense_Mutation_p.W1301C|VPS13A_ENST00000357409.5_Missense_Mutation_p.W1340C|VPS13A_ENST00000423463.2_3'UTR NM_033305.2 NP_150648.2 Q96RL7 VP13A_HUMAN vacuolar protein sorting 13 homolog A (S. cerevisiae) 1340 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 GCAATATATGGTATGAAAAAG 0.343000 14 36 9.05144e-12 1.93691e-11 0.001855 1 0 HSP90AB1 3326 broad.mit.edu 37 6 44217789 44217789 + Silent SNP C C A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:44217789C>A ENST00000371554.1 + 5 760 c.546C>A c.(544-546)atC>atA p.I182I HSP90AB1_ENST00000353801.3_Silent_p.I182I|HSP90AB1_ENST00000371646.5_Silent_p.I182I P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 182 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCAAAGTGATCCTCCATCTTA 0.438000 16 75 0.00400662 0.00838355 0.004007 1 0 TG 7038 broad.mit.edu 37 8 133885333 133885333 + Missense_Mutation SNP C C T rs143578780 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:133885333C>T ENST00000220616.4 + 5 545 c.505C>T c.(505-507)Cgt>Tgt p.R169C TG_ENST00000377869.1_Missense_Mutation_p.R169C NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 169 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) AATAAGAAATCGTCGTCTTCT 0.443000 27 25 0 0 0.001512 0 0 TTLL9 164395 broad.mit.edu 37 20 30530770 30530770 + Missense_Mutation SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:30530770A>G ENST00000375922.4 + 11 1073 c.967A>G c.(967-969)Aca>Gca p.T323A TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000375938.4_Silent_p.K422K|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000535842.1_Silent_p.K422K Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 0 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) ATCGGAAGAAACAACTGAGGC 0.572000 38 126 0 0 0.001287 0 0 ZBED2 79413 broad.mit.edu 37 3 111312682 111312682 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:111312682C>T ENST00000317012.4 - 2 1375 c.367G>A c.(367-369)Gat>Aat p.D123N CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron|CD96_ENST00000438817.2_Intron NM_024508.4 NP_078784.2 Q9BTP6 ZBED2_HUMAN zinc finger, BED-type containing 2 123 DNA binding|metal ion binding large_intestine(3)|lung(1)|skin(2) 6 GGCCTTGGATCCTGGCGCTGC 0.627000 10 32 0 0 0.000978 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993302 140993302 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:140993302C>T ENST00000285879.4 + 4 398 c.112C>T c.(112-114)Ccc>Tcc p.P38S MAGEC1_ENST00000406005.2_5'UTR NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 38 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCTCCAGATTCCCCAGAGTTC 0.582000 HNSCC(15;0.026) 22 93 0 0 0.002780 0 0 SPACA1 81833 broad.mit.edu 37 6 88773912 88773912 + Silent SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:88773912T>C ENST00000237201.1 + 6 823 c.706T>C c.(706-708)Tta>Cta p.L236L SPACA1_ENST00000462690.1_Intron NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 236 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TATAATTTTCTTATTGATCTT 0.393000 16 40 0 0 0.004007 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19715897 19715897 + Missense_Mutation SNP A A C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:19715897A>C ENST00000284885.3 - 12 1387 c.1354T>G c.(1354-1356)Ttc>Gtc p.F452V NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 452 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 TCCTTTTGGAAAACTGTCTTC 0.289000 14 58 0 0 0.002450 0 0 CSN2 1447 broad.mit.edu 37 4 70823381 70823381 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:70823381G>A ENST00000353151.3 - 5 297 c.286C>T c.(286-288)Cct>Tct p.P96S NM_001891.2 NP_001882.1 P05814 CASB_HUMAN casein beta 96 calcium ion transport extracellular region calcium ion binding|enzyme inhibitor activity|transporter activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2) 12 ATTATTTCAGGCTGAGGGACA 0.473000 8 26 0 0 0.004482 0 0 TTLL13 440307 broad.mit.edu 37 15 90799000 90799000 + Missense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:90799000T>A ENST00000438251.1 + 5 721 c.431T>A c.(430-432)tTc>tAc p.F144Y RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000339615.5_Missense_Mutation_p.F144Y A6NNM8 TTL13_HUMAN tubulin tyrosine ligase-like family, member 13 144 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1) 16 Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378) KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514) ATCAACCACTTCCCTGGCATG 0.522000 39 143 0 0 0.005524 0 0 AGR3 155465 broad.mit.edu 37 7 16918164 16918164 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:16918164C>T ENST00000310398.2 - 2 149 c.79G>A c.(79-81)Gaa>Aaa p.E27K AGR3_ENST00000402239.3_Missense_Mutation_p.E27K NM_176813.3 NP_789783.1 Q8TD06 AGR3_HUMAN anterior gradient 3 27 extracellular region central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1) 13 Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202) UCEC - Uterine corpus endometrioid carcinoma (126;0.184) GGCCTCTTTTCCTTTTTTATT 0.403000 19 54 0 0 0.000958 0 0 FAM222B 55731 broad.mit.edu 37 17 27086635 27086635 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:27086635C>T ENST00000341217.5 - 3 557 c.342G>A c.(340-342)aaG>aaA p.K114K FAM222B_ENST00000452648.3_Silent_p.K114K|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Silent_p.K114K|FAM222B_ENST00000581381.1_3'UTR|FAM222B_ENST00000577682.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000583522.1_3'UTR NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 114 CGTCAAAGTCCTTGAGTATGC 0.612000 6 12 0 0 0.001984 0 0 PLG 5340 broad.mit.edu 37 6 161173248 161173248 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:161173248G>A ENST00000308192.9 + 18 2290 c.2227G>A c.(2227-2229)Gaa>Aaa p.E743K NM_000301.3 NP_000292.1 P00747 PLMN_HUMAN plasminogen 743 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CCAATCCACCGAACTCTGTGC 0.488000 15 43 0 0 0.004007 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846025 18846025 + RNA SNP G G C rs5993363 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:18846025G>C ENST00000412938.1 + 0 3383 GACGTTGAAGGCTGCCTTCAG 0.647000 4 51 0 0 0.001168 0 0 AGAP11 119385 broad.mit.edu 37 10 88752110 88752110 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:88752110G>A ENST00000433214.2 + 0 471 AAGCTGAAAAGAAAAAGAAGC 0.423000 4 12 0 0 0.000248 0 0 PIGR 5284 broad.mit.edu 37 1 207110450 207110450 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:207110450G>A ENST00000356495.4 - 4 1218 c.1035C>T c.(1033-1035)ttC>ttT p.F345F NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 345 Ig-like V-type 3. extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 CCTCATTGACGAAGAGTTGCC 0.582000 9 23 0 0 0.000443 0 0 HLCS 3141 broad.mit.edu 37 21 38137355 38137355 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:38137355G>A ENST00000399120.1 - 9 2868 c.1638C>T c.(1636-1638)tcC>tcT p.S546S HLCS_ENST00000336648.3_Silent_p.S546S NM_001242784.1 NP_001229713.1 P50747 BPL1_HUMAN holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase) 546 cell proliferation|histone biotinylation|response to biotin chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(46;0.0422) Biotin(DB00121) CGACAGCCACGGACATCAGAT 0.532000 10 79 0 0 0.000443 0 0 FLG 2312 broad.mit.edu 37 1 152275409 152275409 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:152275409C>T ENST00000368799.1 - 3 11988 c.11953G>A c.(11953-11955)Gat>Aat p.D3985N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3985 keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.D3985H(1) 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) TCACCATAATCATAATCTGCA 0.398000 Ichthyosis 31 88 0 0 0.002096 0 0 DNAH5 1767 broad.mit.edu 37 5 13824350 13824350 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13824350C>T ENST00000265104.4 - 39 6641 c.6537G>A c.(6535-6537)acG>acA p.T2179T NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2179 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) GCATGACAATCGTGGACTCCG 0.448000 Kartagener syndrome 9 30 0 0 0.004482 0 0 ZFPL1 7542 broad.mit.edu 37 11 64853932 64853932 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:64853932C>T ENST00000294258.3 + 4 412 c.260C>T c.(259-261)cCc>cTc p.P87L NM_006782.3 NP_006773.2 O95159 ZFPL1_HUMAN zinc finger protein-like 1 87 regulation of transcription, DNA-dependent|vesicle-mediated transport Golgi apparatus|integral to membrane|nucleus DNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1) 11 GCCCAGCTACCCCGAAACACG 0.607000 42 187 0 0 0.003214 0 0 LGSN 51557 broad.mit.edu 37 6 63995556 63995556 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:63995556C>T ENST00000370658.5 - 3 299 c.266G>A c.(265-267)cGa>cAa p.R89Q LGSN_ENST00000370657.4_Missense_Mutation_p.R89Q NM_001143940.1|NM_016571.2 NP_001137412.1|NP_057655.2 Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 89 glutamine biosynthetic process glutamate-ammonia ligase activity NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) TGCTTCAAATCGTACAAACTG 0.433000 10 20 0 0 0.000978 0 0 ASPH 444 broad.mit.edu 37 8 62566152 62566152 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:62566152G>A ENST00000541428.1 - 4 463 c.303C>T c.(301-303)ccC>ccT p.P101P ASPH_ENST00000445642.3_Silent_p.P116P|ASPH_ENST00000522835.1_Silent_p.P116P|ASPH_ENST00000518068.1_Silent_p.P130P|ASPH_ENST00000379454.4_Silent_p.P130P|ASPH_ENST00000517903.1_Silent_p.P116P|ASPH_ENST00000356457.5_Silent_p.P130P|ASPH_ENST00000517847.2_Silent_p.P116P NM_001164750.1 NP_001158222.1 Q12797 ASPH_HUMAN aspartate beta-hydroxylase 130 muscle contraction integral to endoplasmic reticulum membrane calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 Lung SC(2;0.153) Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101) L-Aspartic Acid(DB00128)|Succinic acid(DB00139) CCTGCTCCTCGGGCTCAGTGT 0.517000 25 32 0 0 0.001786 0 0 DHX33 56919 broad.mit.edu 37 17 5347750 5347750 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:5347750G>A ENST00000225296.3 - 12 2099 c.1899C>T c.(1897-1899)gcC>gcT p.A633A DHX33_ENST00000433302.3_Silent_p.A409A NM_001199699.1|NM_020162.3 NP_001186628.1|NP_064547.2 Q9H6R0 DHX33_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 33 633 nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GCTGAAGCTCGGCGGTGCTCA 0.622000 8 30 0 0 0.003080 0 0 MSR1 4481 broad.mit.edu 37 8 16026295 16026295 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:16026295C>T ENST00000350896.3 - 4 499 c.302G>A c.(301-303)gGa>gAa p.G101E MSR1_ENST00000381998.4_Missense_Mutation_p.G101E|MSR1_ENST00000445506.2_Missense_Mutation_p.G119E|MSR1_ENST00000262101.5_Missense_Mutation_p.G101E|MSR1_ENST00000355282.2_Missense_Mutation_p.G101E|MSR1_ENST00000536385.1_Intron NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 101 Spacer (Probable). cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) GCTGTCATTTCCTTTTCCCGT 0.378000 23 81 0 0 0.002299 0 0 CD79A 973 broad.mit.edu 37 19 42381431 42381431 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:42381431C>T ENST00000221972.3 + 1 242 c.57C>T c.(55-57)ttC>ttT p.F19F CD79A_ENST00000444740.2_Silent_p.F19F NM_001783.3|NM_021601.3 NP_001774.1|NP_067612.1 P11912 CD79A_HUMAN CD79a molecule, immunoglobulin-associated alpha 19 B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 TCCTCCTCTTCCTGCTGTCTG 0.607000 """O, S""" DLBCL 14 50 0 0 0.002450 0 0 CHRM3 1131 broad.mit.edu 37 1 240071148 240071148 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:240071148C>T ENST00000255380.4 + 5 1176 c.397C>T c.(397-399)Cga>Tga p.R133* NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 133 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CATCATGAATCGATGGGCCTT 0.478000 10 81 0 0 0.000673 0 0 KCNH4 23415 broad.mit.edu 37 17 40332926 40332926 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:40332926G>A ENST00000264661.3 - 1 370 c.38C>T c.(37-39)aCc>aTc p.T13I KCNH4_ENST00000607371.1_Missense_Mutation_p.T13I NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 13 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GTCCAGGAAGGTGTTTTGCGG 0.692000 27 103 0 0 0.001271 0 0 ZNF317 57693 broad.mit.edu 37 19 9270856 9270856 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9270856C>T ENST00000247956.6 + 7 840 c.535C>T c.(535-537)Cct>Tct p.P179S ZNF317_ENST00000360385.3_Missense_Mutation_p.P147S NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 TGGCATGGACCCTCATCTCAC 0.552000 14 40 0 0 0.003163 0 0 PCDHB6 56130 broad.mit.edu 37 5 140531209 140531209 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140531209C>T ENST00000231136.1 + 1 1371 c.1371C>T c.(1369-1371)ttC>ttT p.F457F PCDHB6_ENST00000543635.1_Silent_p.F321F NM_018939.2 NP_061762.1 Q9Y5E3 PCDB6_HUMAN 457 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.F457F(1) cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 84 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACACCCTGTTCGTCCGCGAGA 0.612000 39 135 0 0 0.003214 0 0 KRTAP12-1 353332 broad.mit.edu 37 21 46101789 46101789 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:46101789G>A ENST00000391617.1 - 1 289 c.250C>T c.(250-252)Ctc>Ttc p.L84F TSPEAR_ENST00000323084.4_Intron NM_181686.1 NP_859014.1 P59990 KR121_HUMAN keratin associated protein 12-1 84 14 X 5 AA approximate repeats. keratin filament kidney(1)|large_intestine(1)|lung(1)|skin(2) 5 GGTCTGCAGAGGACGCTGGTG 0.642000 10 48 0 0 0.000443 0 0 GRIN2B 2904 broad.mit.edu 37 12 13761657 13761657 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:13761657G>A ENST00000279593.3 - 9 2099 c.1890C>T c.(1888-1890)atC>atT p.I630I NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 630 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) CTGACACCATGATCTTGGAGG 0.512000 11 56 0 0 0.000978 0 0 RGL1 23179 broad.mit.edu 37 1 183711344 183711344 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:183711344C>T ENST00000304685.3 + 2 513 c.52C>T c.(52-54)Ctt>Ttt p.L18F RGL1_ENST00000536277.1_Missense_Mutation_p.L18F|RGL1_ENST00000367531.1_Missense_Mutation_p.L18F NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 0 cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 TAAATTCAAACTTTCCACCAA 0.448000 17 41 0 0 0.006122 0 0 EVI5L 115704 broad.mit.edu 37 19 7914195 7914195 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:7914195C>T ENST00000270530.4 + 5 802 c.606C>T c.(604-606)atC>atT p.I202I EVI5L_ENST00000538904.2_Silent_p.I202I NM_145245.3 NP_660288.1 Q96CN4 EVI5L_HUMAN ecotropic viral integration site 5-like 202 Rab-GAP TBC. intracellular protein binding|Rab GTPase activator activity breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GCGCCTTCATCGTGGGCCTGC 0.647000 18 38 0 0 0.001216 0 0 MICALL2 79778 broad.mit.edu 37 7 1484391 1484391 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:1484391G>A ENST00000297508.7 - 6 1490 c.1315C>T c.(1315-1317)Ccg>Tcg p.P439S MICALL2_ENST00000405088.4_Missense_Mutation_p.P227S NM_182924.3 NP_891554.1 Q8IY33 MILK2_HUMAN MICAL-like 2 439 cytoplasm|cytoskeleton zinc ion binding breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2) 19 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15) ACAAGTGACGGGGTGGGACCT 0.642000 3 22 0 0 0.000248 0 0 KAT6B 23522 broad.mit.edu 37 10 76739023 76739023 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:76739023C>T ENST00000287239.4 + 10 2646 c.2157C>T c.(2155-2157)taC>taT p.Y719Y KAT6B_ENST00000490365.1_3'UTR|KAT6B_ENST00000372714.1_Silent_p.Y427Y|KAT6B_ENST00000372724.1_Silent_p.Y427Y|KAT6B_ENST00000372725.1_Silent_p.Y427Y|KAT6B_ENST00000372711.1_Silent_p.Y536Y NM_001256468.1|NM_012330.3 NP_001243397.1|NP_036462.2 Q8WYB5 MYST4_HUMAN K(lysine) acetyltransferase 6B 719 Catalytic. histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding GTGGCCGGTACCCTTCTGTGA 0.388000 6 35 0 0 0.001984 0 0 RLTPR 146206 broad.mit.edu 37 16 67688253 67688253 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:67688253C>T ENST00000334583.6 + 31 3568 c.3240C>T c.(3238-3240)gaC>gaT p.D1080D RLTPR_ENST00000545661.1_Silent_p.D1044D NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 1080 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCGAGGAGGACCCGGCCACTG 0.662000 4 14 0 0 0.000602 0 0 HDHD2 84064 broad.mit.edu 37 18 44656643 44656643 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:44656643G>A ENST00000300605.6 - 4 519 c.367C>T c.(367-369)Cat>Tat p.H123Y HDHD2_ENST00000587841.1_Intron NM_032124.4 NP_115500.1 Q9H0R4 HDHD2_HUMAN haloacid dehalogenase-like hydrolase domain containing 2 123 hydrolase activity kidney(2)|large_intestine(2)|lung(1)|skin(1) 6 ATTTGATAATGAAAATGTTCT 0.343000 28 59 0 0 0.002096 0 0 NCR2 9436 broad.mit.edu 37 6 41318505 41318505 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:41318505C>T ENST00000373089.5 + 5 822 c.734C>T c.(733-735)cCc>cTc p.P245L NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 245 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) acggaccttccctggacctca 0.468000 10 44 0 0 0.000673 0 0 DNAH5 1767 broad.mit.edu 37 5 13700912 13700912 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13700912C>T ENST00000265104.4 - 78 13664 c.13560G>A c.(13558-13560)tgG>tgA p.W4520* NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 4520 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGTCCTTCATCCATTTGGTGA 0.483000 Kartagener syndrome 24 84 0 0 0.005443 0 0 TMEM132B 114795 broad.mit.edu 37 12 125834259 125834259 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:125834259C>T ENST00000299308.3 + 2 322 c.314C>T c.(313-315)tCt>tTt p.S105F TMEM132B_ENST00000418253.2_3'UTR NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 105 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) CTGTTGACATCTACAGCCTTT 0.478000 35 103 0 0 0.003755 0 0 VPS13D 55187 broad.mit.edu 37 1 12416533 12416533 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:12416533G>A ENST00000358136.3 + 49 10080 c.9950G>A c.(9949-9951)aGc>aAc p.S3317N VPS13D_ENST00000356315.4_Missense_Mutation_p.S3292N NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3316 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CTGGCCCGTAGCCTGAGTCCT 0.493000 11 43 0 0 0.001855 0 0 STC1 6781 broad.mit.edu 37 8 23708887 23708887 + Missense_Mutation SNP C C T rs150986463 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:23708887C>T ENST00000290271.2 - 3 702 c.419G>A c.(418-420)cGg>cAg p.R140Q STC1_ENST00000524323.1_Missense_Mutation_p.R71Q NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 140 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) TTCAGGGTTCCGCTTGGCGAT 0.532000 20 108 0 0 0.001882 0 0 MATN1 4146 broad.mit.edu 37 1 31188783 31188783 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:31188783C>T ENST00000373765.4 - 5 1215 c.1180G>A c.(1180-1182)Gat>Aat p.D394N NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 394 VWFA 2. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TTGGCAGCATCATTAATGTAG 0.572000 8 41 0 0 0.003080 0 0 LYPD4 147719 broad.mit.edu 37 19 42342326 42342326 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:42342326C>T ENST00000330743.3 - 4 1432 c.221G>A c.(220-222)aGg>aAg p.R74K LYPD4_ENST00000343055.4_Missense_Mutation_p.R39K|LYPD4_ENST00000601246.1_Missense_Mutation_p.R39K NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 74 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CACAACTCCCCTTGCAGTCCC 0.577000 8 24 0 0 0.000443 0 0 GPR156 165829 broad.mit.edu 37 3 119886817 119886817 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:119886817C>T ENST00000464295.1 - 10 1952 c.1507G>A c.(1507-1509)Gac>Aac p.D503N GPR156_ENST00000315843.3_Missense_Mutation_p.D503N|GPR156_ENST00000461057.1_Missense_Mutation_p.D499N Q8NFN8 GP156_HUMAN G protein-coupled receptor 156 503 integral to membrane|plasma membrane G-protein coupled receptor activity|GABA-B receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1) 32 GBM - Glioblastoma multiforme(114;0.19) GGGACTTGGTCTCCTCTTTCT 0.527000 44 124 0 0 0.003610 0 0 RBMXL1 494115 broad.mit.edu 37 1 89449031 89449031 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:89449031G>A ENST00000399794.2 - 3 1194 c.479C>T c.(478-480)cCt>cTt p.P160L CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.P160L NM_001162536.2 NP_001156008.1 Q96E39 RBMXL_HUMAN RNA binding motif protein, X-linked-like 1 160 nucleotide binding|RNA binding CTTAGGAGAAGGACCCCCACT 0.493000 35 109 0 0 0.004289 0 0 FAS 355 broad.mit.edu 37 10 90767523 90767523 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:90767523G>A ENST00000355740.2 + 3 483 c.263G>A c.(262-264)gGg>gAg p.G88E FAS_ENST00000357339.2_Missense_Mutation_p.G88E|FAS_ENST00000313771.5_3'UTR|FAS_ENST00000355279.2_Missense_Mutation_p.G88E|FAS_ENST00000352159.4_Missense_Mutation_p.G88E NM_000043.4|NM_152871.2|NM_152872.2 NP_000034.1|NP_690610.1|NP_690611.1 P25445 TNR6_HUMAN Fas cell surface death receptor 88 activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death cytosol|extracellular region|integral to membrane|soluble fraction identical protein binding|kinase binding breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2) 18 Colorectal(252;0.0161) Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193) TGCCAAGAAGGGAAGGAGTAC 0.448000 7 21 0 0 0.004482 0 0 BRCA2 675 broad.mit.edu 37 13 32914693 32914693 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:32914693C>T ENST00000544455.1 + 11 6428 c.6201C>T c.(6199-6201)tcC>tcT p.S2067S BRCA2_ENST00000380152.3_Silent_p.S2067S NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 2067 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGCAAGTTTCCATTTTAGAAA 0.348000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 14 29 0 0 0.001855 0 0 HUWE1 10075 broad.mit.edu 37 X 53617393 53617393 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:53617393G>A ENST00000342160.3 - 34 4619 c.4162C>T c.(4162-4164)Cca>Tca p.P1388S HUWE1_ENST00000262854.6_Missense_Mutation_p.P1388S|HUWE1_ENST00000218328.8_Missense_Mutation_p.P1388S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1388 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGATCCATTGGAATATCCTGT 0.433000 30 72 0 0 0.002836 0 0 MYC 4609 broad.mit.edu 37 8 128752989 128752989 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:128752989G>A ENST00000377970.2 + 3 1660 c.1150G>A c.(1150-1152)Gag>Aag p.E384K MYC_ENST00000524013.1_Missense_Mutation_p.E383K NM_002467.4 NP_002458.2 P01106 MYC_HUMAN v-myc avian myelocytomatosis viral oncogene homolog 369 Helix-loop-helix motif. branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug nucleolus|nucleoplasm E-box binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 16 all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185) Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22) Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151) KIRC - Kidney renal clear cell carcinoma(542;0.248) GAGGAGGAACGAGCTAAAACG 0.517000 3 """A, T""" """IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@""" """Burkitt lymphoma, amplified in other cancers, B-CLL""" 134 125 0 0 0.003610 0 0 ERVW-1 30816 broad.mit.edu 37 7 92098746 92098746 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:92098746C>T ENST00000493463.2 - 1 1873 c.950G>A c.(949-951)aGa>aAa p.R317K AC007566.10_ENST00000427458.1_RNA|ERVW-1_ENST00000603053.1_Missense_Mutation_p.R317K|ERVW-1_ENST00000604270.1_Intron NM_014590.3 NP_055405.3 Q9UQF0 ENW1_HUMAN 317 Cleavage. syncytium formation integral to membrane|plasma membrane|virion endometrium(1)|large_intestine(1)|lung(15) 17 aatgggtactcttttgttgcg 0.428000 18 81 0 0 0.001216 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24884069 24884069 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:24884069G>A ENST00000396432.2 - 20 4249 c.3763C>T c.(3763-3765)Cgt>Tgt p.R1255C ARHGAP21_ENST00000320481.6_Missense_Mutation_p.R1042C NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1254 Rho-GAP. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GTTTTCAGACGATCTAGAGGA 0.303000 8 26 0 0 0.004482 0 0 NVL 4931 broad.mit.edu 37 1 224477257 224477257 + Nonsense_Mutation SNP C C A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:224477257C>A ENST00000281701.6 - 13 1763 c.1504G>T c.(1504-1506)Gaa>Taa p.E502* NVL_ENST00000482491.1_Nonsense_Mutation_p.E226*|NVL_ENST00000340871.4_Nonsense_Mutation_p.E313*|NVL_ENST00000391875.2_Nonsense_Mutation_p.E396*|NVL_ENST00000361463.3_Nonsense_Mutation_p.E396*|NVL_ENST00000469075.1_Nonsense_Mutation_p.E411* NM_002533.3 NP_002524.2 O15381 NVL_HUMAN nuclear VCP-like 502 aggresome|cytoplasm|nucleolus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1) 42 GBM - Glioblastoma multiforme(131;0.00501) TCTTCCATTTCAGGATTTTTC 0.458000 19 54 1.67942e-08 3.56679e-08 0.006122 1 0 FMN2 56776 broad.mit.edu 37 1 240371059 240371059 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:240371059G>A ENST00000319653.9 + 5 3177 c.2947G>A c.(2947-2949)Gga>Aga p.G983R NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 983 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCTCTACCCGGAGCGGGCAT 0.716000 6 40 0 0 0.004482 0 0 CENPU 79682 broad.mit.edu 37 4 185646136 185646136 + Missense_Mutation SNP G G C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:185646136G>C ENST00000281453.5 - 4 365 c.295C>G c.(295-297)Cct>Gct p.P99A MLF1IP_ENST00000541971.1_Missense_Mutation_p.P99A NM_024629.3 NP_078905.2 Q71F23 CENPU_HUMAN 99 CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm p.P99S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1) 13 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146) all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419) TTTCCTGGAGGAGTTGAAGAG 0.353000 11 42 0 0 0.000978 0 0 KIAA1257 57501 broad.mit.edu 37 3 128706457 128706457 + Splice_Site SNP A A C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:128706457A>C ENST00000265068.5 - 4 835 c.e4+1 KIAA1257_ENST00000511438.1_Splice_Site|KIAA1257_ENST00000510149.1_Splice_Site|KIAA1257_ENST00000515659.1_Splice_Site NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 AAACCAGAGCACCTGACTTAT 0.443000 13 65 0 0 0.002450 0 0 OGDHL 55753 broad.mit.edu 37 10 50944543 50944543 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:50944543G>A ENST00000374103.4 - 21 2699 c.2614C>T c.(2614-2616)Cct>Tct p.P872S OGDHL_ENST00000432695.1_Missense_Mutation_p.P663S|OGDHL_ENST00000419399.1_Missense_Mutation_p.P815S|OGDHL_ENST00000490844.1_5'UTR NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 872 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 CCATCTTCAGGAATCACCCGC 0.642000 12 57 0 0 0.001368 0 0 CNBD1 168975 broad.mit.edu 37 8 88249305 88249305 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:88249305C>T ENST00000518476.1 + 6 787 c.736C>T c.(736-738)Ctt>Ttt p.L246F CNBD1_ENST00000522427.1_3'UTR NM_173538.2 NP_775809.1 Q8NA66 CNBD1_HUMAN cyclic nucleotide binding domain containing 1 246 breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1) 32 AAACTCTACACTTGCTGAGAT 0.373000 11 72 0 0 0.001368 0 0 KIF21B 23046 broad.mit.edu 37 1 200978068 200978068 + Silent SNP C C T rs150839616 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:200978068C>T ENST00000332129.2 - 3 592 c.276G>A c.(274-276)ggG>ggA p.G92G KIF21B_ENST00000422435.2_Silent_p.G92G|KIF21B_ENST00000461742.2_Silent_p.G92G|KIF21B_ENST00000360529.5_Silent_p.G92G NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 92 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.G92G(1) autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGTACGTCTTCCCGGCCCCCG 0.612000 25 59 0 0 0.004656 0 0 RUSC2 9853 broad.mit.edu 37 9 35561359 35561359 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:35561359C>T ENST00000455600.1 + 12 5100 c.4531C>T c.(4531-4533)Cct>Tct p.P1511S NM_001135999.1 NP_001129471.1 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 1511 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) AAGTCCAACCCCTGGAAGCAG 0.652000 11 66 0 0 0.000673 0 0 GOT2 2806 broad.mit.edu 37 16 58753135 58753135 + Nonsense_Mutation SNP C C A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:58753135C>A ENST00000245206.5 - 4 528 c.400G>T c.(400-402)Gga>Tga p.G134* GOT2_ENST00000434819.2_Nonsense_Mutation_p.G91*|GOT2_ENST00000564400.1_5'UTR NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 134 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) GCTCCAGTTCCAGAAATGGTC 0.493000 13 69 4.7546e-09 1.01169e-08 0.004007 1 0 RB1 5925 broad.mit.edu 37 13 49027168 49027168 + Nonsense_Mutation SNP C C T rs121913305 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:49027168C>T ENST00000267163.4 + 18 1873 c.1735C>T c.(1735-1737)Cga>Tga p.R579* NM_000321.2 NP_000312.2 P06400 RB_HUMAN retinoblastoma 1 579 Domain A.|Pocket; binds T and E1A. androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.0?(15)|p.?(10)|p.R579*(5)|p.R579fs*29(1) NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31) 496 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) ATCAAAGGACCGAGAAGGACC 0.338000 R579*(SW1783_CENTRAL_NERVOUS_SYSTEM) 6 """D, Mis, N, F, S""" """retinoblastoma, sarcoma, breast, small cell lung""" """retinoblastoma, sarcoma, breast, small cell lung""" Hereditary Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) 6 20 0 0 0.001984 0 0 NIPSNAP1 8508 broad.mit.edu 37 22 29966482 29966482 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:29966482G>A ENST00000216121.7 - 2 392 c.138C>T c.(136-138)tcC>tcT p.S46S NM_001202502.1|NM_003634.3 NP_001189431.1|NP_003625.2 Q9BPW8 NIPS1_HUMAN nipsnap homolog 1 (C. elegans) 46 p.?(1) large_intestine(2)|lung(2)|skin(1) 5 GAACAAAGAGGGAGCGGAACC 0.562000 6 12 0 0 0.001984 0 0 PPP2R5E 5529 broad.mit.edu 37 14 63842813 63842813 + Missense_Mutation SNP C C G rs146316789 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:63842813C>G ENST00000337537.3 - 14 1920 c.1318G>C c.(1318-1320)Gaa>Caa p.E440Q PPP2R5E_ENST00000422769.2_Missense_Mutation_p.E364Q|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.E435Q NM_006246.2 NP_006237.1 Q16537 2A5E_HUMAN protein phosphatase 2, regulatory subunit B', epsilon isoform 440 signal transduction cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1) 15 OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128) CGCTCCTTTTCTTTCTTTTTC 0.333000 18 39 0 0 0.001216 0 0 DNAJC16 23341 broad.mit.edu 37 1 15870913 15870913 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:15870913C>T ENST00000375847.3 + 5 758 c.594C>T c.(592-594)gtC>gtT p.V198V DNAJC16_ENST00000375838.1_Silent_p.V198V|DNAJC16_ENST00000375849.1_Silent_p.V198V NM_015291.2 NP_056106.1 Q9Y2G8 DJC16_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 16 198 Thioredoxin. cell redox homeostasis|protein folding integral to membrane heat shock protein binding|unfolded protein binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1) 18 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) TTGGCGTGGTCCATGCTGGGT 0.468000 10 31 0 0 0.000673 0 0 PLD1 5337 broad.mit.edu 37 3 171321003 171321003 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:171321003G>A ENST00000356327.5 - 26 3046 c.2976C>T c.(2974-2976)ccC>ccT p.P992P PLD1_ENST00000351298.4_Silent_p.P1030P|PLD1_ENST00000342215.6_3'UTR NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 1030 cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CAGCTCGAATGGGATCTTCCT 0.433000 11 37 0 0 0.000978 0 0 DNAH10 196385 broad.mit.edu 37 12 124289424 124289424 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:124289424G>A ENST00000409039.3 + 17 2495 c.2470G>A c.(2470-2472)Gac>Aac p.D824N NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 824 Stem (By similarity). 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) AAGGGCCAGCGACGTGGACCA 0.547000 30 121 0 0 0.002445 0 0 HIVEP2 3097 broad.mit.edu 37 6 143093854 143093854 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:143093854G>A ENST00000367603.2 - 5 2764 c.2022C>T c.(2020-2022)ttC>ttT p.F674F HIVEP2_ENST00000012134.2_Silent_p.F674F|HIVEP2_ENST00000367604.1_Silent_p.F674F NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 674 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CGGGATCCATGAAATATTCTC 0.473000 23 82 0 0 0.001882 0 0 KPNA6 23633 broad.mit.edu 37 1 32620255 32620255 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:32620255C>T ENST00000373625.3 + 2 164 c.71C>T c.(70-72)cCt>cTt p.P24L KPNA6_ENST00000537234.1_Missense_Mutation_p.P21L|KPNA6_ENST00000545542.1_Missense_Mutation_p.P29L|KPNA6_ENST00000469790.1_3'UTR NM_012316.4 NP_036448.1 O60684 IMA7_HUMAN karyopherin alpha 6 (importin alpha 7) 24 IBB. NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding large_intestine(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174) GCTCTAAACCCTGAAGAAATG 0.428000 9 36 0 0 0.004482 0 0 ASPHD1 253982 broad.mit.edu 37 16 29913155 29913155 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:29913155G>A ENST00000308748.5 + 1 1115 c.863G>A c.(862-864)gGc>gAc p.G288D ASPHD1_ENST00000483405.1_Missense_Mutation_p.G7D NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 288 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity p.G288D(1) endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 AACACCTTCGGCAATGCCGGC 0.662000 7 23 0 0 0.004482 0 0 GPR37L1 9283 broad.mit.edu 37 1 202092519 202092519 + Missense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:202092519T>A ENST00000367282.4 + 1 534 c.428T>A c.(427-429)gTg>gAg p.V143E NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 143 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 GTGTTTGCGGTGGGCATTGTG 0.592000 17 49 0 0 0.004990 0 0 PCDH18 54510 broad.mit.edu 37 4 138449647 138449647 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:138449647C>T ENST00000344876.4 - 3 3111 c.2725G>A c.(2725-2727)Gga>Aga p.G909R PCDH18_ENST00000507846.1_Missense_Mutation_p.G688R|PCDH18_ENST00000412923.2_Missense_Mutation_p.G908R|PCDH18_ENST00000511115.1_Missense_Mutation_p.G89R|PCDH18_ENST00000510305.1_Missense_Mutation_p.G120R NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 909 Interaction with DAB1 (By similarity). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) GGAATTCTTCCATCTGTGAGA 0.418000 36 131 0 0 0.005524 0 0 TMEM202 338949 broad.mit.edu 37 15 72691128 72691128 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:72691128C>T ENST00000341689.3 + 2 270 c.216C>T c.(214-216)atC>atT p.I72I TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 72 integral to membrane p.I72I(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 TAATGCTGATCGCCATGTCCC 0.522000 13 56 0 0 0.001368 0 0 PIBF1 10464 broad.mit.edu 37 13 73482807 73482807 + Missense_Mutation SNP C C G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:73482807C>G ENST00000326291.6 + 12 1965 c.1627C>G c.(1627-1629)Caa>Gaa p.Q543E NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 543 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) AATAATAATGCAAACTGCAGA 0.378000 9 20 0 0 0.000443 0 0 TRPV6 55503 broad.mit.edu 37 7 142572879 142572879 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:142572879G>A ENST00000359396.3 - 9 1406 c.1161C>T c.(1159-1161)gtC>gtT p.V387V NM_018646.3 NP_061116.2 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, subfamily V, member 6 387 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 42 Melanoma(164;0.059) CCAGCTCCCCGACCAGCCGGA 0.567000 26 90 0 0 0.005443 0 0 IGHV5-51 28388 broad.mit.edu 37 14 107034755 107034755 + RNA SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:107034755C>T ENST00000390626.2 - 0 383 ATGGCGGTGTCCGAGGCCTTC 0.582000 26 147 0 0 0.005443 0 0 ARMC5 79798 broad.mit.edu 37 16 31473806 31473806 + Missense_Mutation SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:31473806T>G ENST00000457010.2 + 3 1639 c.938T>G c.(937-939)cTg>cGg p.L313R ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.L313R|ARMC5_ENST00000538189.1_Missense_Mutation_p.L345R|ARMC5_ENST00000408912.3_Missense_Mutation_p.L408R|ARMC5_ENST00000563544.1_Missense_Mutation_p.L313R NM_024742.2 NP_079018.1 Q96C12 ARMC5_HUMAN armadillo repeat containing 5 313 binding central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GCCCAGGGCCTGATTCGGCCT 0.652000 6 20 0 0 0.003080 0 0 CUL9 23113 broad.mit.edu 37 6 43153911 43153911 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:43153911C>T ENST00000252050.4 + 4 1053 c.969C>T c.(967-969)ctC>ctT p.L323L CUL9_ENST00000372647.2_Silent_p.L323L|CUL9_ENST00000354495.3_Silent_p.L323L NM_015089.2 NP_055904.1 Q8IWT3 CUL9_HUMAN cullin 9 323 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex|cytoplasm ATP binding|ubiquitin protein ligase binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4) 92 CCCGGAACCTCAGCGAACAGG 0.607000 14 94 0 0 0.004007 0 0 OR9A2 135924 broad.mit.edu 37 7 142724010 142724010 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:142724010G>A ENST00000350513.2 - 1 272 c.210C>T c.(208-210)atC>atT p.I70I NM_001001658.1 NP_001001658.1 Q8NGT5 OR9A2_HUMAN olfactory receptor, family 9, subfamily A, member 2 70 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3) 25 Melanoma(164;0.059) TTGTGACCAGGATCTCCAGGG 0.468000 21 76 0 0 0.001882 0 0 STARD6 147323 broad.mit.edu 37 18 51858171 51858171 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:51858171C>T ENST00000581310.1 - 7 699 c.326G>A c.(325-327)cGa>cAa p.R109Q STARD6_ENST00000580990.2_Silent_p.S16S|STARD6_ENST00000307844.3_Missense_Mutation_p.R109Q P59095 STAR6_HUMAN StAR-related lipid transfer (START) domain containing 6 109 START. lipid transport lipid binding endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2) 8 Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188) GATAAAGTCTCGAGGGGAAAT 0.378000 7 37 0 0 0.004482 0 0 FUK 197258 broad.mit.edu 37 16 70500048 70500048 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:70500048C>T ENST00000288078.6 + 5 531 c.299C>T c.(298-300)cCc>cTc p.P100L FUK_ENST00000428974.2_Missense_Mutation_p.P83L|FUK_ENST00000378912.2_Missense_Mutation_p.P132L|FUK_ENST00000571514.1_Intron NM_145059.2 NP_659496.2 Q8N0W3 FUK_HUMAN fucokinase 100 cytoplasm ATP binding|fucokinase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2) 23 Ovarian(137;0.0694) CGAGACTTCCCCTTTGATGAC 0.622000 18 54 0 0 0.006122 0 0 PTGES3L-AARSD1 100885850 broad.mit.edu 37 17 41103881 41103881 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:41103881C>T ENST00000421990.2 - 16 1906 c.1561G>A c.(1561-1563)Gag>Aag p.E521K PTGES3L-AARSD1_ENST00000409399.1_Missense_Mutation_p.E521K|PTGES3L-AARSD1_ENST00000360221.4_Missense_Mutation_p.E460K|AARSD1_ENST00000427569.2_Missense_Mutation_p.E347K|PTGES3L-AARSD1_ENST00000409103.1_Missense_Mutation_p.E430K NM_001136042.2 NP_001129514.2 CCACCTTTCTCATCGCCCACA 0.517000 13 65 0 0 0.001368 0 0 TTLL2 83887 broad.mit.edu 37 6 167754956 167754956 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:167754956C>T ENST00000239587.5 + 3 1656 c.1568C>T c.(1567-1569)cCc>cTc p.P523L NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 523 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) ACACTCATGCCCTACGCGTCC 0.562000 25 63 0 0 0.005443 0 0 MALAT1 378938 broad.mit.edu 37 11 65265605 65265605 + RNA SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:65265605C>T ENST00000534336.1 + 0 373 AP000769.7_ENST00000602344.1_lincRNA NR_002819.2 AAAAAGCAGACCCAGAGCAGT 0.458000 10 33 0 0 0.000673 0 0 CCDC3 83643 broad.mit.edu 37 10 12940427 12940427 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:12940427G>A ENST00000378839.1 - 7 1379 c.427C>T c.(427-429)Ctg>Ttg p.L143L CCDC3_ENST00000378825.3_Silent_p.L268L Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 268 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) TACCCCCGCAGGTAGGGGGGG 0.647000 5 27 0 0 0.000602 0 0 COL4A4 1286 broad.mit.edu 37 2 227895314 227895314 + Splice_Site SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:227895314C>T ENST00000396625.3 - 41 4025 c.3817_splice c.e41-1 p.G1273_splice COL4A4_ENST00000329662.7_Splice_Site_p.G1273_splice NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1273 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CCCAGGTGCTCCTGACCACAG 0.527000 10 33 0 0 0.000443 0 0 CD99 4267 broad.mit.edu 37 X 2609464 2609464 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:2609464C>T ENST00000381192.3 + 1 245 c.63C>T c.(61-63)gcC>gcT p.A21A CD99_ENST00000381184.1_Silent_p.A21A|CD99_ENST00000381180.3_Silent_p.A21A|CD99_ENST00000381187.3_Silent_p.A21A|CD99_ENST00000482405.2_3'UTR NM_001277710.1|NM_002414.3 NP_001264639.1|NP_002405.1 P14209 CD99_HUMAN CD99 molecule 21 cell adhesion cytoplasm|integral to plasma membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1) 11 TGGTCGCCGCCCCGGGTGAGC 0.771000 3 4 0 0 0.004672 0 0 ADORA1 134 broad.mit.edu 37 1 203134704 203134704 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:203134704C>T ENST00000367236.4 + 3 1578 c.657C>T c.(655-657)tcC>tcT p.S219S ADORA1_ENST00000367235.1_3'UTR|ADORA1_ENST00000309502.3_Silent_p.S219S|ADORA1_ENST00000472535.1_3'UTR|ADORA1_ENST00000337894.4_Silent_p.S219S NM_001048230.1 NP_001041695.1 P30542 AA1R_HUMAN adenosine A1 receptor 219 induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis integral to plasma membrane p.S219S(1) central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1) 25 Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277) CGGCCTCCTCCGGCGACCCGC 0.582000 18 85 0 0 0.001882 0 0 OR5AN1 390195 broad.mit.edu 37 11 59132415 59132415 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:59132415G>A ENST00000313940.2 + 1 531 c.484G>A c.(484-486)Ggt>Agt p.G162S NM_001004729.1 NP_001004729.1 Q8NGI8 O5AN1_HUMAN olfactory receptor, family 5, subfamily AN, member 1 162 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 21 ATTCCAAATTGGTGCTTTGCT 0.458000 13 82 0 0 0.002450 0 0 KDM7A 80853 broad.mit.edu 37 7 139810919 139810919 + Silent SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:139810919A>G ENST00000397560.2 - 11 1501 c.1404T>C c.(1402-1404)ctT>ctC p.L468L JHDM1D_ENST00000006967.5_Silent_p.L468L NM_030647.1 NP_085150.1 Q6ZMT4 KDM7_HUMAN 468 midbrain development|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1) 22 Melanoma(164;0.0142) TTACTTTAGAAAGTTCTTTAA 0.338000 12 52 0 0 0.001855 0 0 MYO18B 84700 broad.mit.edu 37 22 26173699 26173699 + Silent SNP C C G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:26173699C>G ENST00000335473.7 + 8 2269 c.2019C>G c.(2017-2019)gtC>gtG p.V673V MYO18B_ENST00000407587.2_Silent_p.V673V|MYO18B_ENST00000536101.1_Silent_p.V673V NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 673 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 GTGAGCAGGTCCTGGAACACC 0.627000 14 62 0 0 0.004990 0 0 FPR2 2358 broad.mit.edu 37 19 52272419 52272419 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:52272419C>T ENST00000598776.1 + 2 1280 c.508C>T c.(508-510)Cca>Tca p.P170S FPR2_ENST00000340023.6_Missense_Mutation_p.P170S|FPR2_ENST00000598953.1_Missense_Mutation_p.P170S NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 170 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 AGTAACTATTCCAAATGGGGA 0.507000 20 54 0 0 0.002299 0 0 ITSN1 6453 broad.mit.edu 37 21 35094928 35094928 + Missense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:35094928T>A ENST00000381318.3 + 4 445 c.157T>A c.(157-159)Tta>Ata p.L53I AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.L53I|ITSN1_ENST00000399367.3_Missense_Mutation_p.L53I|ITSN1_ENST00000437442.2_Missense_Mutation_p.L53I|ITSN1_ENST00000379960.5_Missense_Mutation_p.L53I|ITSN1_ENST00000399352.1_Missense_Mutation_p.L53I|ITSN1_ENST00000399355.2_Missense_Mutation_p.L53I|ITSN1_ENST00000381291.4_Missense_Mutation_p.L53I|ITSN1_ENST00000381285.4_Missense_Mutation_p.L53I|ITSN1_ENST00000399338.4_Missense_Mutation_p.L53I|ITSN1_ENST00000399353.1_Missense_Mutation_p.L53I|ITSN1_ENST00000399326.3_Missense_Mutation_p.L53I NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 53 EF-hand 1.|EH 1. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 TCAATCTGGGTTACCTCAACC 0.294000 14 48 0 0 0.003163 0 0 OR2G6 391211 broad.mit.edu 37 1 248684993 248684993 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:248684993G>A ENST00000343414.4 + 1 78 c.46G>A c.(46-48)Gga>Aga p.G16R NM_001013355.1 NP_001013373.1 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, member 6 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTTCTCCTGGGATTTTCAGA 0.423000 28 84 0 0 0.002096 0 0 PAGE5 90737 broad.mit.edu 37 X 55247081 55247081 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:55247081G>A ENST00000289619.5 + 1 294 c.49G>A c.(49-51)Gaa>Aaa p.E17K PAGE5_ENST00000374952.1_Intron|PAGE5_ENST00000374955.3_Intron NM_130467.3 NP_569734.2 Q96GU1 GGEE1_HUMAN P antigen family, member 5 (prostate associated) 17 breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 8 AACGAGGGAGGAAGGTAGGCC 0.637000 4 6 0 0 0.000248 0 0 CD244 51744 broad.mit.edu 37 1 160832414 160832414 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:160832414C>T ENST00000368034.4 - 1 231 c.54G>A c.(52-54)caG>caA p.Q18Q CD244_ENST00000368032.2_Silent_p.Q18Q|CD244_ENST00000322302.7_Silent_p.Q18Q|CD244_ENST00000368033.3_Silent_p.Q18Q NM_001166663.1|NM_001166664.1|NM_016382.3 NP_001160135.1|NP_001160136.1|NP_057466.1 Q9BZW8 CD244_HUMAN CD244 molecule, natural killer cell receptor 2B4 18 blood coagulation|leukocyte migration integral to membrane|plasma membrane protein binding|receptor activity central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1) 18 all_cancers(52;2.72e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00737) TACCTTTGCCCTGATACACCT 0.617000 5 45 0 0 0.001984 0 0 LRRC31 79782 broad.mit.edu 37 3 169578434 169578434 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:169578434G>A ENST00000316428.5 - 3 459 c.402C>T c.(400-402)atC>atT p.I134I LRRC31_ENST00000264676.5_Intron|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.I134I NM_001277127.1|NM_024727.2 NP_001264056.1|NP_079003.2 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 134 cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 31 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTTGCTGAGTGATGGAAAGGA 0.463000 16 68 0 0 0.004007 0 0 VPS13D 55187 broad.mit.edu 37 1 12416532 12416532 + Missense_Mutation SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:12416532A>G ENST00000358136.3 + 49 10079 c.9949A>G c.(9949-9951)Agc>Ggc p.S3317G VPS13D_ENST00000356315.4_Missense_Mutation_p.S3292G NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3316 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GCTGGCCCGTAGCCTGAGTCC 0.493000 11 42 0 0 0.001368 0 0 COASY 80347 broad.mit.edu 37 17 40717008 40717008 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:40717008C>T ENST00000393818.2 + 5 1701 c.1245C>T c.(1243-1245)ctC>ctT p.L415L COASY_ENST00000420359.1_Silent_p.L415L|COASY_ENST00000421097.2_Silent_p.L415L|COASY_ENST00000590958.1_Silent_p.L444L|COASY_ENST00000449624.1_Silent_p.L120L NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 415 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CAGATATTCTCCATAAAGATG 0.498000 21 74 0 0 0.003330 0 0 CEL 1056 broad.mit.edu 37 9 135946657 135946657 + Missense_Mutation SNP G G C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:135946657G>C ENST00000372080.4 + 11 1793 c.1777G>C c.(1777-1779)Gcc>Ccc p.A593P CEL_ENST00000351304.7_Missense_Mutation_p.A524P NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 590 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TGACTCCGGGGCCCCCCCCGT 0.816000 3 19 0 0 0.000248 0 0 ERP27 121506 broad.mit.edu 37 12 15067692 15067692 + Nonsense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:15067692T>A ENST00000266397.2 - 7 1372 c.799A>T c.(799-801)Aag>Tag p.K267* ERP27_ENST00000540097.1_Nonsense_Mutation_p.K166* NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 267 endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 TTTGGAGTCTTTCCTTCTGAT 0.363000 16 33 0 0 0.006122 0 0 NDNF 79625 broad.mit.edu 37 4 121958404 121958404 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:121958404G>A ENST00000379692.4 - 4 1248 c.722C>T c.(721-723)cCg>cTg p.P241L NDNF_ENST00000506900.1_5'UTR NM_024574.3 NP_078850.3 Q8TB73 CD031_HUMAN neuron-derived neurotrophic factor 241 p.P241Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1) 29 ACCAGGTTTCGGTGCCATCAT 0.453000 4 37 0 0 0.000248 0 0 CIITA 4261 broad.mit.edu 37 16 11000964 11000964 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:11000964C>T ENST00000324288.8 + 11 1748 c.1615C>T c.(1615-1617)Cga>Tga p.R539* CIITA_ENST00000381835.5_Intron|CIITA_ENST00000537380.1_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 539 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 GAAGCTGCTCCGAGGTTGCAC 0.687000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 4 23 0 0 0.000602 0 0 HRNR 388697 broad.mit.edu 37 1 152193185 152193185 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:152193185G>A ENST00000368801.2 - 3 995 c.920C>T c.(919-921)cCt>cTt p.P307L FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 307 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GACGTGGCTAGGAGACTGGCG 0.592000 74 181 0 0 0.003610 0 0 GRIN2A 2903 broad.mit.edu 37 16 10032355 10032355 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:10032355C>T ENST00000396573.2 - 4 777 c.468G>A c.(466-468)acG>acA p.T156T GRIN2A_ENST00000404927.2_Silent_p.T156T|GRIN2A_ENST00000562109.1_Silent_p.T156T|GRIN2A_ENST00000330684.3_Silent_p.T156T|GRIN2A_ENST00000535259.1_5'UTR|GRIN2A_ENST00000396575.2_Silent_p.T156T|GRIN2A_ENST00000566670.1_5'UTR NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 156 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.T156T(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCAGCATGACCGTGGCTTGCT 0.507000 10 53 0 0 0.000673 0 0 DNAH5 1767 broad.mit.edu 37 5 13841988 13841988 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13841988G>A ENST00000265104.4 - 33 5401 c.5297C>T c.(5296-5298)tCc>tTc p.S1766F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1766 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTCTTGAGAGGAAATTGACAG 0.333000 Kartagener syndrome 8 31 0 0 0.004482 0 0 ENO3 2027 broad.mit.edu 37 17 4856180 4856180 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:4856180G>A ENST00000323997.6 + 3 308 c.176G>A c.(175-177)gGg>gAg p.G59E ENO3_ENST00000519584.1_Missense_Mutation_p.G59E|ENO3_ENST00000518175.1_Missense_Mutation_p.G59E NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 59 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 CGCTACCTGGGGAAAGGTGAG 0.602000 4 17 0 0 0.000248 0 0 PODN 127435 broad.mit.edu 37 1 53544333 53544333 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:53544333C>T ENST00000371500.3 + 10 1579 c.1238C>T c.(1237-1239)aCc>aTc p.T413I PODN_ENST00000395871.2_Missense_Mutation_p.T290I|PODN_ENST00000312553.5_Missense_Mutation_p.T432I|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 384 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 CGCGTGCGCACCCTCATGATC 0.627000 25 90 0 0 0.002780 0 0 TMF1 7110 broad.mit.edu 37 3 69088085 69088085 + Nonsense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:69088085G>A ENST00000543976.1 - 7 2158 c.1912C>T c.(1912-1914)Caa>Taa p.Q638* CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|TMF1_ENST00000398559.2_Nonsense_Mutation_p.Q635*|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA NM_007114.2 NP_009045.2 P82094 TMF1_HUMAN TATA element modulatory factor 1 635 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) TCTTTCTCTTGGCGTTCTACC 0.368000 12 49 0 0 0.000978 0 0 PKD1L1 168507 broad.mit.edu 37 7 47840383 47840383 + Missense_Mutation SNP A A T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:47840383A>T ENST00000289672.2 - 54 8107 c.8057T>A c.(8056-8058)tTc>tAc p.F2686Y C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2686 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAGCCCGGGGAAGGCGTCTGT 0.577000 17 91 0 0 0.001523 0 0 DNAH5 1767 broad.mit.edu 37 5 13811926 13811926 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:13811926G>A ENST00000265104.4 - 44 7341 c.7237C>T c.(7237-7239)Ctt>Ttt p.L2413F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2413 AAA 2 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CGTTTCTTAAGAAAACCCTGT 0.373000 Kartagener syndrome 4 30 0 0 0.000248 0 0 CRYGD 1421 broad.mit.edu 37 2 208989071 208989071 + Missense_Mutation SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:208989071A>G ENST00000264376.4 - 2 44 c.17T>C c.(16-18)cTc>cCc p.L6P NM_006891.3 NP_008822.2 P07320 CRGD_HUMAN crystallin, gamma D 6 Beta/gamma crystallin 'Greek key' 1. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens breast(1)|endometrium(1)|lung(3) 5 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) GTCCTCGTAGAGGGTGATCTG 0.682000 6 16 0 0 0.001984 0 0 TNS4 84951 broad.mit.edu 37 17 38641257 38641257 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:38641257G>A ENST00000254051.6 - 5 1449 c.1291C>T c.(1291-1293)Ccc>Tcc p.P431S NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 431 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TCCCTGGCGGGACCTGGAGAC 0.542000 7 27 0 0 0.003080 0 0 CIT 11113 broad.mit.edu 37 12 120156162 120156162 + Silent SNP C C T rs140364771 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:120156162C>T ENST00000392521.2 - 32 4111 c.4056G>A c.(4054-4056)gcG>gcA p.A1352A CIT_ENST00000261833.7_Silent_p.A1310A|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1310 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TCTGCTGCCTCGCGGTGGCTG 0.642000 12 57 0 0 0.001855 0 0 PMM1 5372 broad.mit.edu 37 22 41979976 41979976 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:41979976G>A ENST00000216259.7 - 5 545 c.461C>T c.(460-462)tCc>tTc p.S154F NM_002676.2 NP_002667.2 Q92871 PMM1_HUMAN phosphomannomutase 1 154 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol metal ion binding|phosphomannomutase activity NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2) 11 GTCCAGTTCGGAGAACTCGAT 0.507000 14 62 0 0 0.006122 0 0 BAGE2 85319 broad.mit.edu 37 21 11038844 11038844 + RNA SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:11038844G>A ENST00000470054.1 - 0 1359 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TCCAGCAGAGGAACTAAGAGC 0.448000 24 197 0 0 0.004656 0 0 CHST10 9486 broad.mit.edu 37 2 101023068 101023068 + Missense_Mutation SNP A A G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:101023068A>G ENST00000264249.3 - 3 455 c.70T>C c.(70-72)Ttc>Ctc p.F24L CHST10_ENST00000542617.1_Missense_Mutation_p.F72L|CHST10_ENST00000409701.1_Missense_Mutation_p.F24L NM_004854.4 NP_004845.1 O43529 CHSTA_HUMAN carbohydrate sulfotransferase 10 24 carbohydrate biosynthetic process|cell adhesion Golgi membrane|integral to membrane|membrane fraction breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1) 16 AACGTGATGAACTTGCTAGCC 0.473000 63 221 0 0 0.003610 0 0 MTDH 92140 broad.mit.edu 37 8 98703286 98703286 + Silent SNP C C T rs142598802 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:98703286C>T ENST00000336273.3 + 6 1246 c.918C>T c.(916-918)tcC>tcT p.S306S MTDH_ENST00000519934.1_Silent_p.S283S NM_178812.3 NP_848927.2 Q86UE4 LYRIC_HUMAN metadherin 306 lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity p.S306S(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Breast(36;2.56e-06) OV - Ovarian serous cystadenocarcinoma(57;0.178) AGTGGAACTCCGTTTCACCTG 0.468000 12 88 0 0 0.000978 0 0 ABCB11 8647 broad.mit.edu 37 2 169801162 169801162 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:169801162C>T ENST00000263817.6 - 21 2687 c.2563G>A c.(2563-2565)Gga>Aga p.G855R NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 855 ABC transmembrane type-1 2. G -> R (in ethinylestradiol/gestodene- induced cholestasis; loss of transport capacity for taurocholate). bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) GTCAATGCTCCAGGGCTATTT 0.443000 12 44 0 0 0.002450 0 0 DCBLD1 285761 broad.mit.edu 37 6 117825084 117825084 + Silent SNP C C T rs76896058 byFrequency TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:117825084C>T ENST00000338728.5 + 2 387 c.267C>T c.(265-267)atC>atT p.I89I DCBLD1_ENST00000368503.4_Silent_p.I89I|DCBLD1_ENST00000296955.8_Silent_p.I89I|GOPC_ENST00000467125.1_Intron Q8N8Z6 DCBD1_HUMAN discoidin, CUB and LCCL domain containing 1 89 CUB. cell adhesion integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 26 all_cancers(87;0.171) GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125) ATTTGGATATCGAATCCCAGA 0.413000 22 58 0 0 0.003954 0 0 RHOXF2 84528 broad.mit.edu 37 X 119293172 119293172 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:119293172G>A ENST00000371388.3 + 2 521 c.331G>A c.(331-333)Gag>Aag p.E111K NM_032498.1 NP_115887.1 Q9BQY4 RHXF2_HUMAN Rhox homeobox family, member 2 111 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2) 8 CGACCAGAGCGAGAAGGAACC 0.667000 6 11 0 0 0.000443 0 0 ENG 2022 broad.mit.edu 37 9 130605473 130605473 + Missense_Mutation SNP C C T rs11545665 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:130605473C>T ENST00000344849.3 - 2 399 c.119G>A c.(118-120)gGc>gAc p.G40D ENG_ENST00000373203.4_Missense_Mutation_p.G40D P17813 EGLN_HUMAN endoglin 40 artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing cell surface|external side of plasma membrane|extracellular space|membrane fraction activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 17 TGTCACCTCGCCCCTCTCGGG 0.562000 Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia 31 88 0 0 0.002096 0 0 NID1 4811 broad.mit.edu 37 1 236212199 236212199 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:236212199G>A ENST00000264187.6 - 2 398 c.316C>T c.(316-318)Cct>Tct p.P106S NID1_ENST00000366595.3_Missense_Mutation_p.P106S NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 106 NIDO. cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) GCCAGGAAAGGGGCGACTGCA 0.552000 34 95 0 0 0.004878 0 0 RNF213 57674 broad.mit.edu 37 17 78262068 78262068 + Missense_Mutation SNP A A T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:78262068A>T ENST00000582970.1 + 4 859 c.716A>T c.(715-717)cAg>cTg p.Q239L RNF213_ENST00000456466.1_Missense_Mutation_p.Q239L|RNF213_ENST00000508628.2_Missense_Mutation_p.Q288L|RNF213_ENST00000319921.4_Missense_Mutation_p.Q239L NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 239 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GATGCTGCCCAGGAGCTCCTG 0.632000 20 52 0 0 0.001523 0 0 PHF20L1 51105 broad.mit.edu 37 8 133816952 133816952 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:133816952C>T ENST00000395386.2 + 8 1113 c.814C>T c.(814-816)Cag>Tag p.Q272* PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000315808.10_Nonsense_Mutation_p.Q272*|PHF20L1_ENST00000395374.1_Nonsense_Mutation_p.Q111*|PHF20L1_ENST00000395376.1_Nonsense_Mutation_p.Q277*|PHF20L1_ENST00000395383.1_Nonsense_Mutation_p.Q276*|PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.Q247*|PHF20L1_ENST00000337920.4_Nonsense_Mutation_p.Q246*|PHF20L1_ENST00000395382.3_Nonsense_Mutation_p.Q142*|PHF20L1_ENST00000395379.1_Nonsense_Mutation_p.Q272* NM_016018.4 NP_057102.4 A8MW92 P20L1_HUMAN PHD finger protein 20-like 1 272 nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2) 15 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) CAACTCGTTTCAGGCAAAGAG 0.363000 10 50 0 0 0.000978 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204438313 204438313 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:204438313C>T ENST00000367187.3 - 3 1174 c.618G>A c.(616-618)cgG>cgA p.R206R PIK3C2B_ENST00000424712.2_Silent_p.R206R NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 206 Interaction with GRB2. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CTTCTAGGATCCGATGCTCTA 0.537000 118 276 0 0 0.003610 0 0 TENM1 10178 broad.mit.edu 37 X 123615660 123615660 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:123615660C>T ENST00000422452.2 - 22 3934 c.3871G>A c.(3871-3873)Gat>Aat p.D1291N TENM1_ENST00000371130.3_Missense_Mutation_p.D1284N|TENM1_ENST00000461429.1_5'UTR NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 AGGCACTGATCACCAGTTCCT 0.423000 16 46 0 0 0.001216 0 0 SAMD14 201191 broad.mit.edu 37 17 48193396 48193396 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:48193396C>T ENST00000330175.4 - 5 875 c.558G>A c.(556-558)aaG>aaA p.K186K SAMD14_ENST00000503734.1_5'UTR|SAMD14_ENST00000503131.1_Silent_p.K186K NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 186 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GGCGAGTCTTCTTATCGAGGC 0.627000 5 30 0 0 0.003080 0 0 TTN 7273 broad.mit.edu 37 2 179577973 179577973 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:179577973C>T ENST00000589042.1 - 93 27112 c.26888G>A c.(26887-26889)gGa>gAa p.G8963E TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G8646E|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7719E|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8646 Ig-like 72. 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) GATCTCATTTCCTTCATGGAA 0.433000 4 16 0 0 0.000248 0 0 LRP2BP 55805 broad.mit.edu 37 4 186296788 186296788 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr4:186296788C>T ENST00000362004.3 - 3 1126 c.315G>A c.(313-315)ggG>ggA p.G105G LRP2BP_ENST00000510776.1_Silent_p.G77G|LRP2BP_ENST00000328559.7_Silent_p.G103G|LRP2BP_ENST00000505916.1_Silent_p.G103G|RP11-714G18.1_ENST00000514884.1_RNA Q9P2M1 LR2BP_HUMAN LRP2 binding protein 103 cytoplasm protein binding breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2) 15 all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161) TGGTCCCCAGCCCATCATAGT 0.383000 15 55 0 0 0.004007 0 0 CDC25A 993 broad.mit.edu 37 3 48226167 48226167 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:48226167G>A ENST00000302506.3 - 3 674 c.266C>T c.(265-267)cCt>cTt p.P89L CDC25A_ENST00000351231.3_Missense_Mutation_p.P89L NM_001789.2 NP_001780.2 P30304 MPIP1_HUMAN cell division cycle 25A 89 cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684) CAATGGCCCAGGAGAATCTAG 0.289000 5 27 0 0 0.000602 0 0 FLNC 2318 broad.mit.edu 37 7 128480651 128480651 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:128480651C>T ENST00000325888.8 + 10 1860 c.1599C>T c.(1597-1599)ttC>ttT p.F533F FLNC_ENST00000346177.6_Silent_p.F533F NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 533 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ATGGTGTGTTCGAGTGCGAGT 0.617000 24 93 0 0 0.003330 0 0 IDO1 3620 broad.mit.edu 37 8 39781071 39781071 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:39781071G>A ENST00000518237.1 + 7 1260 c.621G>A c.(619-621)ttG>ttA p.L207L IDO1_ENST00000522495.1_Silent_p.L207L|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 207 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) CTTCTTGCTTGGAGAAAGCCC 0.423000 7 29 0 0 0.001984 0 0 PRAMEF12 390999 broad.mit.edu 37 1 12835271 12835271 + Silent SNP A A C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:12835271A>C ENST00000357726.4 + 1 288 c.261A>C c.(259-261)gcA>gcC p.A87A NM_001080830.1 NP_001074299.1 O95522 PRA12_HUMAN PRAME family member 12 87 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1) 23 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGCTTGATGCACTGCTTGCCC 0.587000 30 56 0 0 0.002836 0 0 BAG3 9531 broad.mit.edu 37 10 121436223 121436223 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:121436223C>T ENST00000369085.3 + 4 1463 c.1157C>T c.(1156-1158)tCc>tTc p.S386F NM_004281.3 NP_004272.2 O95817 BAG3_HUMAN BCL2-associated athanogene 3 386 anti-apoptosis|apoptosis|protein folding cytosol endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 20 Lung NSC(174;0.109)|all_lung(145;0.142) all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148) GTCCCCTCTTCCCCCAAGAGT 0.607000 15 46 0 0 0.004990 0 0 PTK2B 2185 broad.mit.edu 37 8 27295362 27295362 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:27295362C>T ENST00000397501.1 + 23 2416 c.1608C>T c.(1606-1608)gcC>gcT p.A536A PTK2B_ENST00000338238.4_Silent_p.A536A|PTK2B_ENST00000517339.1_Silent_p.A536A|PTK2B_ENST00000420218.2_Silent_p.A536A|PTK2B_ENST00000397497.4_Silent_p.A282A|PTK2B_ENST00000544172.1_Silent_p.A536A|PTK2B_ENST00000346049.5_Silent_p.A536A NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 536 Protein kinase. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) TATGCAAAGCCATGGCCTACC 0.597000 6 16 0 0 0.001984 0 0 OR14I1 401994 broad.mit.edu 37 1 248845431 248845431 + Missense_Mutation SNP A A C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:248845431A>C ENST00000342623.3 - 1 198 c.175T>G c.(175-177)Ttc>Gtc p.F59V NM_001004734.1 NP_001004734.1 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, member 1 59 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 35 TTCAGGAAGAAGTACATGGGT 0.502000 16 37 0 0 0.005443 0 0 DYM 54808 broad.mit.edu 37 18 46860203 46860203 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr18:46860203G>A ENST00000269445.6 - 7 972 c.515C>T c.(514-516)tCa>tTa p.S172L DYM_ENST00000578396.1_Missense_Mutation_p.S17L|DYM_ENST00000442713.2_Intron NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 172 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 AGCTTCTACTGATATTTCATA 0.338000 15 52 0 0 0.001216 0 0 SIGLEC10 89790 broad.mit.edu 37 19 51918568 51918568 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:51918568C>T ENST00000353836.5 - 7 1418 c.1197G>A c.(1195-1197)ctG>ctA p.L399L SIGLEC10_ENST00000339313.5_Silent_p.L399L|SIGLEC10_ENST00000439889.2_Silent_p.L341L|SIGLEC10_ENST00000525998.1_Silent_p.L309L|SIGLEC10_ENST00000441969.3_Silent_p.L341L|SIGLEC10_ENST00000432469.2_Silent_p.L316L|SIGLEC10_ENST00000442846.3_Silent_p.L251L|SIGLEC10_ENST00000436984.2_Silent_p.L351L|SIGLEC10_ENST00000356298.5_Silent_p.L399L NM_001171157.1|NM_001171158.1|NM_001171159.1 NP_001164628.1|NP_001164629.1|NP_001164630.1 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 399 Ig-like C2-type 3. cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) GGGAGGGGCTCAGAACCTGTC 0.662000 9 44 0 0 0.000443 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140348656 140348656 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140348656C>T ENST00000289269.5 + 1 2837 c.2305C>T c.(2305-2307)Ccg>Tcg p.P769S PCDHAC1_ENST00000253807.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron NM_018899.5|NM_031883.2 NP_061722.1|NP_114089.1 Q9Y5I4 PCDC2_HUMAN 769 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCCAGGATACCGCATGGCCT 0.527000 14 52 0 0 0.002450 0 0 CDH11 1009 broad.mit.edu 37 16 65016033 65016033 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:65016033C>T ENST00000394156.3 - 8 1624 c.1171G>A c.(1171-1173)Gaa>Aaa p.E391K CDH11_ENST00000566827.1_Missense_Mutation_p.E265K|CDH11_ENST00000268603.4_Missense_Mutation_p.E391K P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 391 Cadherin 4. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) TCTTGGACTTCGTGGATGTAA 0.502000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 23 87 0 0 0.002299 0 0 OR5M1 390168 broad.mit.edu 37 11 56380251 56380251 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:56380251G>A ENST00000526538.1 - 1 727 c.728C>T c.(727-729)tCc>tTc p.S243F NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 TGTCAGGTGGGAAGCACACGT 0.448000 17 58 0 0 0.002299 0 0 PCDH1 5097 broad.mit.edu 37 5 141233812 141233812 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:141233812C>T ENST00000287008.3 - 5 3656 c.3509G>A c.(3508-3510)gGc>gAc p.G1170D PCDH1_ENST00000503492.1_3'UTR NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GCTGGGGCTGCCGGCGCCCGC 0.672000 4 11 0 0 0.000248 0 0 MUC3A 4584 broad.mit.edu 37 7 100552193 100552193 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100552193C>T ENST00000319509.7 + 1 944 c.944C>T c.(943-945)tCc>tTc p.S315F mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCTTATATTTCCCTTCCCTCC 0.488000 26 326 0 0 0.005443 0 0 SCEL 8796 broad.mit.edu 37 13 78214852 78214852 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:78214852C>T ENST00000535157.1 + 29 1924 c.1754C>T c.(1753-1755)cCc>cTc p.P585L SCEL_ENST00000377246.3_Missense_Mutation_p.P607L|SCEL_ENST00000349847.3_Missense_Mutation_p.P627L NM_001160706.1 NP_001154178.1 O95171 SCEL_HUMAN sciellin 627 embryo development|keratinocyte differentiation cornified envelope|cytoplasm|membrane protein binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0233) TGCCGAAAACCCTTGGGTGTA 0.303000 4 17 0 0 0.000248 0 0 CBFB 865 broad.mit.edu 37 16 67132620 67132620 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:67132620G>A ENST00000412916.2 + 6 666 c.503G>A c.(502-504)aGa>aAa p.R168K CBFB_ENST00000568858.1_3'UTR|CBFB_ENST00000290858.6_Silent_p.K178K|CBFB_ENST00000561924.2_Silent_p.K78K Q13951 PEBB_HUMAN core-binding factor, beta subunit 168 transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(3)|large_intestine(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00189)|Epithelial(162;0.00755)|all cancers(182;0.066) CAGGCAAGAAGACAACAAGAC 0.373000 T MYH11 AML 12 60 0 0 0.002450 0 0 LOC101927079 101927079 broad.mit.edu 37 15 22332607 22332607 + RNA SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:22332607C>T ENST00000558896.1 + 0 414 TTTAGGTCATCTCTCTTTCAT 0.433000 8 54 0 0 0.000443 0 0 OR4K13 390433 broad.mit.edu 37 14 20502848 20502848 + Nonsense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:20502848G>A ENST00000315693.2 - 1 71 c.70C>T c.(70-72)Cag>Tag p.Q24* NM_001004714.1 NP_001004714.1 Q8NH42 OR4KD_HUMAN olfactory receptor, family 4, subfamily K, member 13 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4) 24 all_cancers(95;0.00108) Epithelial(56;4.65e-07)|all cancers(55;2.9e-06) GBM - Glioblastoma multiforme(265;0.0064) AATAAAATCTGAAGATTTTGA 0.393000 5 20 0 0 0.000602 0 0 PCDHGA1 56114 broad.mit.edu 37 5 140711008 140711008 + Missense_Mutation SNP G G A rs140226913 by1000genomes TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr5:140711008G>A ENST00000517417.1 + 1 757 c.757G>A c.(757-759)Gaa>Aaa p.E253K PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E253K NM_018912.2 NP_061735.1 breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAATGTCCCCGAAAACGTGCC 0.488000 11 46 0 0 0.000673 0 0 OR5M1 390168 broad.mit.edu 37 11 56380100 56380100 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:56380100C>T ENST00000526538.1 - 1 878 c.879G>A c.(877-879)cgG>cgA p.R293R NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 293 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 CATCTGTGTTCCGTAGGCTAT 0.393000 25 102 0 0 0.001786 0 0 ABLIM1 3983 broad.mit.edu 37 10 116207724 116207724 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:116207724G>A ENST00000533213.2 - 15 1771 c.1470C>T c.(1468-1470)ttC>ttT p.F490F ABLIM1_ENST00000392952.3_Silent_p.F227F|ABLIM1_ENST00000369253.2_Silent_p.F173F|ABLIM1_ENST00000369266.3_Silent_p.F227F|ABLIM1_ENST00000277895.5_Silent_p.F550F|ABLIM1_ENST00000369252.4_Silent_p.F490F O14639 ABLM1_HUMAN actin binding LIM protein 1 550 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) GGGCTGCTGGGAACTTGGAAA 0.537000 16 76 0 0 0.004007 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938863 2938863 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:2938863C>T ENST00000378404.2 + 1 818 c.613C>T c.(613-615)Ccc>Tcc p.P205S NM_080431.4 NP_536356.3 Q8TDY3 ACTT2_HUMAN actin-related protein T2 205 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) CCACACCTTCCCCTGCCAGCT 0.642000 5 41 0 0 0.003080 0 0 TAS2R3 50831 broad.mit.edu 37 7 141464243 141464243 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:141464243G>A ENST00000247879.2 + 1 347 c.285G>A c.(283-285)ctG>ctA p.L95L SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 95 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) CAAACCATCTGAGCATTTGGC 0.423000 41 134 0 0 0.002852 0 0 CEP170B 283638 broad.mit.edu 37 14 105349500 105349500 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:105349500C>T ENST00000453495.1 + 8 937 c.709C>T c.(709-711)Ccg>Tcg p.P237S CEP170B_ENST00000556508.1_Missense_Mutation_p.P166S|CEP170B_ENST00000418279.1_Missense_Mutation_p.P166S|CEP170B_ENST00000414716.3_Missense_Mutation_p.P236S centrosomal protein 170B GACCCCGCAGCCGTCGCAGCC 0.716000 4 10 0 0 0.000248 0 0 CDH23 64072 broad.mit.edu 37 10 73494026 73494026 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr10:73494026C>T ENST00000224721.6 + 32 4154 c.4149C>T c.(4147-4149)gaC>gaT p.D1383D C10orf105_ENST00000398786.2_Intron NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1378 Cadherin 13. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCCTGGTGGACCGTGAGAAGG 0.602000 5 11 0 0 0.001168 0 0 PLXNA3 55558 broad.mit.edu 37 X 153696528 153696528 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:153696528C>T ENST00000369682.3 + 22 4099 c.3924C>T c.(3922-3924)ttC>ttT p.F1308F NM_017514.3 NP_059984.2 P51805 PLXA3_HUMAN plexin A3 1308 axon guidance integral to membrane|intracellular|plasma membrane transmembrane receptor activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 48 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCGTGCTCTTCCCGGGCATCG 0.637000 19 33 0 0 0.001216 0 0 MORF4L1 10933 broad.mit.edu 37 15 79185883 79185883 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:79185883C>T ENST00000331268.5 + 10 864 c.660C>T c.(658-660)ctC>ctT p.L220L MORF4L1_ENST00000559345.1_Silent_p.L93L|MORF4L1_ENST00000558502.1_Silent_p.L93L|MORF4L1_ENST00000558746.1_Silent_p.L154L|MORF4L1_ENST00000426013.2_Silent_p.L181L|MORF4L1_ENST00000379535.4_Silent_p.L206L|MORF4L1_ENST00000561171.1_Intron NM_206839.2 NP_996670.1 Q9UBU8 MO4L1_HUMAN mortality factor 4 like 1 220 Interaction with RB1-1.|Sufficient for interaction with PHF12.|Sufficient for interaction with SIN3A. double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|Sin3 complex protein N-terminus binding breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1) 10 CTTCATAGCTCTTTTATCTTC 0.308000 10 65 0 0 0.000673 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51633275 51633275 + Missense_Mutation SNP G G C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:51633275G>C ENST00000250360.3 + 7 1398 c.1331G>C c.(1330-1332)tGg>tCg p.W444S SIGLEC9_ENST00000440804.3_Intron NM_014441.2 NP_055256.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 444 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) GTGAAGCCTTGGGACTCGCGG 0.597000 18 51 0 0 0.004990 0 0 NLRP11 204801 broad.mit.edu 37 19 56329409 56329409 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:56329409C>T ENST00000443188.1 - 4 842 c.132G>A c.(130-132)ctG>ctA p.L44L NLRP11_ENST00000589824.2_Silent_p.L44L|NLRP11_ENST00000589093.1_Silent_p.L44L|NLRP11_ENST00000360133.3_Silent_p.L44L|NLRP11_ENST00000592953.1_Intron NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 44 DAPIN. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCATCTGTATCAGTGGAAACT 0.388000 14 59 0 0 0.003163 0 0 ATN1 1822 broad.mit.edu 37 12 7050126 7050126 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:7050126C>T ENST00000356654.4 + 8 3535 c.3298C>T c.(3298-3300)Cct>Tct p.P1100S ATN1_ENST00000396684.2_Missense_Mutation_p.P1100S NM_001007026.1 NP_001007027.1 P54259 ATN1_HUMAN atrophin 1 1100 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 TGGAACTCTCCCTAACCCCCT 0.577000 7 38 0 0 0.001984 0 0 SCN10A 6336 broad.mit.edu 37 3 38753839 38753839 + Missense_Mutation SNP T T G TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:38753839T>G ENST00000449082.2 - 22 3901 c.3902A>C c.(3901-3903)aAc>aCc p.N1301T NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1301 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TGCGAAGAGGTTCACACCCAT 0.502000 22 66 0 0 0.001882 0 0 SULT1C3 442038 broad.mit.edu 37 2 108872049 108872049 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:108872049C>T ENST00000329106.2 + 4 421 c.421C>T c.(421-423)Ccc>Tcc p.P141S SULT1C3_ENST00000376700.1_Missense_Mutation_p.P141S NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 141 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 GGCCAGAAATCCCAAGGATTG 0.423000 11 52 0 0 0.001368 0 0 ITGA7 3679 broad.mit.edu 37 12 56090749 56090749 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:56090749G>A ENST00000257880.7 - 13 2022 c.1803C>T c.(1801-1803)gcC>gcT p.A601A ITGA7_ENST00000553804.1_Silent_p.A561A|ITGA7_ENST00000257879.6_Silent_p.A557A|ITGA7_ENST00000394230.2_Silent_p.A561A|ITGA7_ENST00000555728.1_Silent_p.A601A|ITGA7_ENST00000394229.2_Silent_p.A557A|ITGA7_ENST00000347027.6_Silent_p.A551A|ITGA7_ENST00000452168.2_Silent_p.A464A Q13683 ITA7_HUMAN integrin, alpha 7 601 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CGGTGCCCGAGGCCTGGTGCT 0.607000 8 35 0 0 0.003080 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996335 140996335 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chrX:140996335G>A ENST00000285879.4 + 4 3431 c.3145G>A c.(3145-3147)Gtg>Atg p.V1049M MAGEC1_ENST00000406005.2_Missense_Mutation_p.V116M NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1049 MAGE. protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TAAAGTTTGGGTGCAGGAACA 0.542000 HNSCC(15;0.026) 14 65 0 0 0.001855 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895623 24895623 + Missense_Mutation SNP A A T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:24895623A>T ENST00000382071.2 + 4 804 c.719A>T c.(718-720)aAa>aTa p.K240I C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Missense_Mutation_p.K240I P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 240 C1q. collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) GCAGCGGGGAAATTCACGTGC 0.413000 18 136 0 0 0.001882 0 0 BRWD1 54014 broad.mit.edu 37 21 40587164 40587164 + Splice_Site SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:40587164T>C ENST00000342449.3 - 32 3862 c.3785_splice c.e32+1 p.K1262_splice BRWD1_ENST00000380800.3_Splice_Site_p.K1262_splice|BRWD1_ENST00000333229.2_Splice_Site_p.K1262_splice NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1262 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) ATTACTTACTTGATAAATTTT 0.353000 11 23 0 0 0.000673 0 0 CLCNKB 1188 broad.mit.edu 37 1 16383395 16383395 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:16383395C>T ENST00000375679.4 + 20 2159 c.2048C>T c.(2047-2049)cCg>cTg p.P683L CLCNKB_ENST00000375667.3_Missense_Mutation_p.P513L NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTGACAAATCCGCCAGCCCCA 0.572000 13 24 0 0 0.002450 0 0 MLLT6 4302 broad.mit.edu 37 17 36873075 36873075 + Silent SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:36873075T>C ENST00000325718.7 + 10 1583 c.1492T>C c.(1492-1494)Ttg>Ctg p.L498L CTB-58E17.9_ENST00000579499.1_RNA NM_005937.3 NP_005928.2 P55198 AF17_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 498 regulation of transcription, DNA-dependent nucleus protein binding|zinc ion binding breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 Breast(7;4.43e-21) TGCCCCATCCTTGCCCAGTGC 0.667000 T MLL AL 3 9 0 0 0.004672 0 0 PRKDC 5591 broad.mit.edu 37 8 48805886 48805886 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr8:48805886G>A ENST00000314191.2 - 31 3716 c.3660C>T c.(3658-3660)ctC>ctT p.L1220L PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.L1220L NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1220 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGTGTTGATGAGAAAAGAGA 0.507000 Non-homologous end-joining 6 50 0 0 0.001168 0 0 NLRP7 199713 broad.mit.edu 37 19 55450300 55450300 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:55450300G>A ENST00000446217.1 - 6 2373 c.1971C>T c.(1969-1971)ttC>ttT p.F657F NLRP7_ENST00000340844.2_Silent_p.F629F|NLRP7_ENST00000328092.5_Silent_p.F629F|NLRP7_ENST00000448121.2_Silent_p.F629F|NLRP7_ENST00000592784.1_Silent_p.F629F|NLRP7_ENST00000590030.1_Silent_p.F629F|NLRP7_ENST00000588756.1_Silent_p.F629F Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 629 ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AATTCTCCAGGAACACCCCCT 0.453000 18 49 0 0 0.006122 0 0 LYPD4 147719 broad.mit.edu 37 19 42342325 42342325 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:42342325C>T ENST00000330743.3 - 4 1433 c.222G>A c.(220-222)agG>agA p.R74R LYPD4_ENST00000343055.4_Silent_p.R39R|LYPD4_ENST00000601246.1_Silent_p.R39R NM_173506.4 NP_775777.3 Q6UWN0 LYPD4_HUMAN LY6/PLAUR domain containing 4 74 anchored to membrane|plasma membrane breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2) 12 CCACAACTCCCCTTGCAGTCC 0.577000 8 26 0 0 0.000673 0 0 MAP7 9053 broad.mit.edu 37 6 136693694 136693694 + Missense_Mutation SNP A A C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:136693694A>C ENST00000354570.3 - 8 1231 c.821T>G c.(820-822)cTc>cGc p.L274R MAP7_ENST00000432797.2_Missense_Mutation_p.L128R|MAP7_ENST00000544465.1_Missense_Mutation_p.L259R|MAP7_ENST00000454590.1_Missense_Mutation_p.L296R|MAP7_ENST00000438100.2_Missense_Mutation_p.L259R NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 274 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) TGTTACAAAGAGTTTTGGTCG 0.527000 16 49 0 0 0.004990 0 0 RTP3 83597 broad.mit.edu 37 3 46542110 46542110 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:46542110C>T ENST00000296142.3 + 2 992 c.420C>T c.(418-420)atC>atT p.I140I NM_031440.1 NP_113628.1 Q9BQQ7 RTP3_HUMAN receptor (chemosensory) transporter protein 3 140 detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane cytoplasm|integral to membrane protein binding endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1) 10 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204) TTCCTATGATCAAGGACATCT 0.473000 24 92 0 0 0.003330 0 0 PNISR 25957 broad.mit.edu 37 6 99849093 99849093 + Nonsense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:99849093T>A ENST00000369239.5 - 12 1945 c.1741A>T c.(1741-1743)Aaa>Taa p.K581* PNISR_ENST00000438806.1_Nonsense_Mutation_p.K581* NM_032870.2 NP_116259.2 Q8TF01 PNISR_HUMAN PNN-interacting serine/arginine-rich protein 581 nuclear speck breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 CTCTCTATTTTAATTCTGCGA 0.408000 22 86 0 0 0.002780 0 0 RASD2 23551 broad.mit.edu 37 22 35943021 35943021 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr22:35943021C>T ENST00000216127.4 + 2 807 c.165C>T c.(163-165)ttC>ttT p.F55F NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 55 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 TCGAGGACTTCCACCGTAAGG 0.602000 8 28 0 0 0.003080 0 0 ITGA10 8515 broad.mit.edu 37 1 145535786 145535786 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:145535786C>T ENST00000369304.3 + 16 2149 c.1974C>T c.(1972-1974)gcC>gcT p.A658A ITGA10_ENST00000538811.1_Silent_p.A527A|ITGA10_ENST00000539363.1_Silent_p.A515A NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 658 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) CCCCACAGGCCATCAGTGTGG 0.577000 39 116 0 0 0.001706 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47325354 47325354 + RNA SNP G G A rs4660360 by1000genomes TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:47325354G>A ENST00000505841.1 - 0 1175 NR_002788.2 CATCTGGAAAGGTAATGGGTT 0.438000 6 76 0 0 0.003080 0 0 MAATS1 89876 broad.mit.edu 37 3 119458102 119458102 + Splice_Site SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:119458102G>A ENST00000273390.5 + 12 1539 c.1461_splice c.e12-1 p.E488_splice NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 GTTCTTTTAGGAAGAAGAAGA 0.438000 39 153 0 0 0.001485 0 0 SREBF1 6720 broad.mit.edu 37 17 17719280 17719280 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:17719280G>A ENST00000355815.4 - 13 2536 c.2367C>T c.(2365-2367)gcC>gcT p.A789A SREBF1_ENST00000261646.5_Silent_p.A759A|SREBF1_ENST00000395757.1_Silent_p.A505A|SREBF1_ENST00000338854.5_Silent_p.A759A NM_001005291.2 NP_001005291.1 P36956 SRBP1_HUMAN sterol regulatory element binding transcription factor 1 759 cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 14 GCCACTGCATGGCAGGAGGCA 0.647000 13 39 0 0 0.002450 0 0 GOT2 2806 broad.mit.edu 37 16 58749966 58749966 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr16:58749966G>A ENST00000245206.5 - 8 1099 c.971C>T c.(970-972)gCc>gTc p.A324V GOT2_ENST00000434819.2_Missense_Mutation_p.A281V|GOT2_ENST00000564400.1_5'UTR NM_002080.2 NP_002071.2 P00505 AATM_HUMAN glutamic-oxaloacetic transaminase 2, mitochondrial 324 aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol mitochondrial matrix|plasma membrane L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1) 22 L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) AGCAATCCGGGCCCCATTGAG 0.512000 10 49 0 0 0.000673 0 0 OR51B5 282763 broad.mit.edu 37 11 5364734 5364734 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:5364734G>A ENST00000300773.2 - 1 75 c.21C>T c.(19-21)tcC>tcT p.S7S HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron NM_001005567.2 NP_001005567.2 Q9H339 O51B5_HUMAN olfactory receptor, family 51, subfamily B, member 5 7 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 28 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGAAGGGATGGGAGCTGCCGC 0.428000 6 20 0 0 0.001168 0 0 CCER1 196477 broad.mit.edu 37 12 91347766 91347766 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:91347766C>T ENST00000358859.2 - 1 1187 c.754G>A c.(754-756)Ggc>Agc p.G252S CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 TGCACAAAGCCATACAGAGTT 0.592000 64 284 0 0 0.003610 0 0 HPX 3263 broad.mit.edu 37 11 6459666 6459666 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:6459666G>A ENST00000265983.3 - 5 510 c.410C>T c.(409-411)cCt>cTt p.P137L HPX_ENST00000525057.1_5'UTR NM_000613.2 NP_000604.1 P02790 HEMO_HUMAN hemopexin 137 Hemopexin-like 2. cellular iron ion homeostasis|interspecies interaction between organisms extracellular space heme transporter activity|metal ion binding|protein binding endometrium(1)|large_intestine(2)|lung(11)|prostate(1) 15 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19) TGGGATTCCAGGAAATTCATC 0.488000 15 80 0 0 0.003163 0 0 OAS3 4940 broad.mit.edu 37 12 113386914 113386914 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr12:113386914G>A ENST00000228928.7 + 6 1457 c.1278G>A c.(1276-1278)ccG>ccA p.P426P RP1-71H24.1_ENST00000552784.1_RNA NM_006187.2 NP_006178.2 Q9Y6K5 OAS3_HUMAN 2'-5'-oligoadenylate synthetase 3, 100kDa 426 OAS domain 2. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding p.P426P(1) breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2) 27 ACCTGAAGCCGAGCCCCCAGT 0.577000 10 42 0 0 0.000443 0 0 LAMC3 10319 broad.mit.edu 37 9 133960930 133960930 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:133960930C>T ENST00000361069.4 + 25 4183 c.4050C>T c.(4048-4050)ccC>ccT p.P1350P LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1350 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) TGCAGTTTCCCCGGCCCAAGG 0.632000 10 41 0 0 0.000443 0 0 FAM222B 55731 broad.mit.edu 37 17 27086634 27086634 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:27086634C>T ENST00000341217.5 - 3 558 c.343G>A c.(343-345)Gac>Aac p.D115N FAM222B_ENST00000452648.3_Missense_Mutation_p.D115N|FAM222B_ENST00000582266.1_3'UTR|FAM222B_ENST00000581407.1_Missense_Mutation_p.D115N|FAM222B_ENST00000581381.1_3'UTR|FAM222B_ENST00000577682.1_3'UTR|FAM222B_ENST00000582059.1_3'UTR|FAM222B_ENST00000583953.1_3'UTR|FAM222B_ENST00000583522.1_3'UTR NM_018182.2 NP_060652.2 Q8WU58 CQ063_HUMAN family with sequence similarity 222, member B 115 CCGTCAAAGTCCTTGAGTATG 0.612000 6 12 0 0 0.001984 0 0 IQCF3 401067 broad.mit.edu 37 3 51863708 51863708 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:51863708G>A ENST00000456080.1 + 7 1211 c.46G>A c.(46-48)Gaa>Aaa p.E16K IQCF3_ENST00000446775.1_Missense_Mutation_p.E16K|IQCF3_ENST00000444293.1_Missense_Mutation_p.E16K|IQCF3_ENST00000437810.2_Missense_Mutation_p.E16K|IQCF3_ENST00000440739.2_Missense_Mutation_p.E16K P0C7M6 IQCF3_HUMAN IQ motif containing F3 16 endometrium(1)|large_intestine(2)|lung(2)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) AGATGCAGTAGAAAGACAGAG 0.532000 9 19 0 0 0.004482 0 0 MUC16 94025 broad.mit.edu 37 19 9077538 9077538 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9077538C>T ENST00000397910.4 - 3 10111 c.9908G>A c.(9907-9909)gGg>gAg p.G3303E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3304 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 CTGCCTGGTCCCTCCTGGAGT 0.527000 45 63 0 0 0.003214 0 0 NLRP5 126206 broad.mit.edu 37 19 56515323 56515323 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:56515323G>A ENST00000390649.3 + 2 304 c.304G>A c.(304-306)Gag>Aag p.E102K NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 102 DAPIN. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GTTTGAAATCGAGAATGCCAA 0.423000 11 47 0 0 0.000978 0 0 ZNF599 148103 broad.mit.edu 37 19 35251284 35251284 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:35251284G>A ENST00000329285.7 - 4 795 c.422C>T c.(421-423)cCc>cTc p.P141L NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) CTCTTTGTGGGGGTTTGTTCC 0.453000 29 99 0 0 0.003271 0 0 NCR2 9436 broad.mit.edu 37 6 41318504 41318504 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:41318504C>T ENST00000373089.5 + 5 821 c.733C>T c.(733-735)Ccc>Tcc p.P245S NCR2_ENST00000373086.3_3'UTR|NCR2_ENST00000373083.4_3'UTR NM_004828.3 NP_004819.2 O95944 NCTR2_HUMAN natural cytotoxicity triggering receptor 2 245 cellular defense response integral to plasma membrane transmembrane receptor activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1) 14 Ovarian(28;0.0327)|Colorectal(47;0.196) cacggaccttccctggacctc 0.473000 10 45 0 0 0.000673 0 0 MUC17 140453 broad.mit.edu 37 7 100677647 100677647 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:100677647C>T ENST00000306151.4 + 3 3014 c.2950C>T c.(2950-2952)Cca>Tca p.P984S NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 984 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AGGAACGACTCCATTAACAAG 0.512000 81 319 0 0 0.003610 0 0 PAPPA 5069 broad.mit.edu 37 9 119124940 119124940 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:119124940G>A ENST00000328252.3 + 18 4786 c.4417G>A c.(4417-4419)Gag>Aag p.E1473K PAPPA_ENST00000534838.1_Missense_Mutation_p.E511K NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1473 Sushi 4. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding p.E1473K(1) NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGTCTGCCAGGAGATGCAAGG 0.537000 14 43 0 0 0.002450 0 0 ITGB5 3693 broad.mit.edu 37 3 124540215 124540215 + Missense_Mutation SNP T T A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:124540215T>A ENST00000296181.4 - 6 1183 c.887A>T c.(886-888)cAc>cTc p.H296L ITGB5_ENST00000488466.1_Intron NM_002213.3 NP_002204.2 P18084 ITB5_HUMAN integrin, beta 5 296 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction integrin complex receptor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 30 GBM - Glioblastoma multiforme(114;0.163) CTGGCCATCGTGTGGCTGCAC 0.562000 6 30 0 0 0.004482 0 0 COL11A2 1302 broad.mit.edu 37 6 33136330 33136330 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:33136330C>T ENST00000341947.2 - 54 4153 c.3926G>A c.(3925-3927)gGg>gAg p.G1309E COL11A2_ENST00000374713.1_Missense_Mutation_p.G1262E|COL11A2_ENST00000374708.4_Missense_Mutation_p.G1223E|COL11A2_ENST00000395197.1_Missense_Mutation_p.G1249E|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000361917.1_Missense_Mutation_p.G1202E|COL11A2_ENST00000374712.1_Missense_Mutation_p.G1228E|COL11A2_ENST00000357486.1_Missense_Mutation_p.G1288E|COL11A2_ENST00000374714.1_Missense_Mutation_p.G1283E NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1309 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 TCCATTCTCCCCGGTGGGACC 0.632000 4 35 0 0 0.000602 0 0 LRRC15 131578 broad.mit.edu 37 3 194080933 194080933 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:194080933G>A ENST00000347624.3 - 2 925 c.840C>T c.(838-840)tcC>tcT p.S280S LRRC15_ENST00000439944.2_Silent_p.S286S|LRRC15_ENST00000428839.1_Silent_p.S286S NM_130830.4 NP_570843.2 Q8TF66 LRC15_HUMAN leucine rich repeat containing 15 280 integral to membrane p.S280S(1) biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.94e-05) GCTCCTTCAGGGAATTCCCAA 0.557000 11 42 0 0 0.000978 0 0 PSD4 23550 broad.mit.edu 37 2 113940401 113940401 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:113940401G>A ENST00000245796.6 + 2 563 c.368G>A c.(367-369)aGg>aAg p.R123K PSD4_ENST00000441564.2_Missense_Mutation_p.R123K|PSD4_ENST00000465917.1_3'UTR NM_012455.2 NP_036587.2 Q8NDX1 PSD4_HUMAN pleckstrin and Sec7 domain containing 4 123 regulation of ARF protein signal transduction cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCTGCCCAGAGGGAGCACAGG 0.617000 8 53 0 0 0.004482 0 0 CDCP1 64866 broad.mit.edu 37 3 45134979 45134979 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:45134979C>T ENST00000296129.1 - 6 1551 c.1417G>A c.(1417-1419)Gag>Aag p.E473K NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 473 CUB. extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) CAGGGCTTCTCGTGTGTATGC 0.612000 17 36 0 0 0.004990 0 0 ATP8B4 79895 broad.mit.edu 37 15 50152464 50152464 + Nonsense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr15:50152464C>T ENST00000284509.6 - 28 3647 c.3506G>A c.(3505-3507)tGg>tAg p.W1169* ATP8B4_ENST00000559829.1_Nonsense_Mutation_p.W1169* NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 1169 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) ATTTTCAATCCAGCTAGTGCT 0.393000 21 79 0 0 0.001523 0 0 MUC16 94025 broad.mit.edu 37 19 9070973 9070973 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9070973C>T ENST00000397910.4 - 3 16676 c.16473G>A c.(16471-16473)gaG>gaA p.E5491E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5493 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 ACGTGCTGCTCTCCCTCAGTC 0.483000 13 47 0 0 0.001368 0 0 FIG4 9896 broad.mit.edu 37 6 110083360 110083360 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr6:110083360C>T ENST00000230124.3 + 12 1462 c.1338C>T c.(1336-1338)ttC>ttT p.F446F FIG4_ENST00000441478.2_Silent_p.F169F NM_014845.5 NP_055660.1 Q92562 FIG4_HUMAN FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae) 446 SAC. cell death endosome membrane protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2) 32 all_cancers(87;8.63e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000124)|all_lung(197;0.0187)|Colorectal(196;0.0492)|Lung SC(18;0.0548) OV - Ovarian serous cystadenocarcinoma(136;0.0355)|Epithelial(106;0.038)|all cancers(137;0.0425)|BRCA - Breast invasive adenocarcinoma(108;0.079) AAACAGGTTTCTTTGTAAACC 0.353000 12 46 0 0 0.002450 0 0 LSG1 55341 broad.mit.edu 37 3 194373738 194373738 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:194373738G>A ENST00000265245.5 - 8 1207 c.893C>T c.(892-894)cCc>cTc p.P298L NM_018385.2 NP_060855.2 Q9H089 LSG1_HUMAN large 60S subunit nuclear export GTPase 1 298 nuclear export|protein transport Cajal body|endoplasmic reticulum GTP binding|hydrolase activity breast(2)|endometrium(3)|large_intestine(2)|lung(9) 16 all_cancers(143;1.68e-08)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;7.55e-06) ATCCGTTGTGGGATTTTCACT 0.498000 13 51 0 0 0.001368 0 0 FLRT1 23769 broad.mit.edu 37 11 63885183 63885183 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr11:63885183G>A ENST00000246841.3 + 2 2487 c.1444G>A c.(1444-1446)Gag>Aag p.E482K MACROD1_ENST00000255681.6_Intron NM_013280.4 NP_037412.2 Q9NZU1 FLRT1_HUMAN fibronectin leucine rich transmembrane protein 1 454 Fibronectin type-III. cell adhesion integral to plasma membrane|proteinaceous extracellular matrix protein binding, bridging|receptor signaling protein activity breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1) 14 CTCCATCACGGAGACCTTGGT 0.627000 12 42 0 0 0.001855 0 0 FAM73A 374986 broad.mit.edu 37 1 78249030 78249030 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:78249030C>T ENST00000370791.3 + 2 221 c.189C>T c.(187-189)ctC>ctT p.L63L FAM73A_ENST00000443751.2_Intron NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 63 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) ACTATTCTCTCTCCCAGGTAA 0.363000 6 37 0 0 0.001168 0 0 RTL1 388015 broad.mit.edu 37 14 101348394 101348394 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr14:101348394G>A ENST00000534062.1 - 1 2790 c.2732C>T c.(2731-2733)tCc>tTc p.S911F NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 911 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 CTCGATAGGGGAGATGTTGCG 0.592000 7 14 0 0 0.001984 0 0 TYW5 129450 broad.mit.edu 37 2 200801132 200801132 + Silent SNP T T C TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:200801132T>C ENST00000354611.4 - 6 835 c.570A>G c.(568-570)ttA>ttG p.L190L C2orf69_ENST00000491721.1_Intron|TYW5_ENST00000452512.2_5'UTR NM_001039693.2 NP_001034782.1 A2RUC4 TYW5_HUMAN tRNA-yW synthesizing protein 5 190 JmjC. wybutosine biosynthetic process iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein homodimerization activity|tRNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(1) 8 CCATACCTTTTAAATATAAAT 0.308000 33 71 0 0 0.004289 0 0 CABLES2 81928 broad.mit.edu 37 20 60971643 60971643 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr20:60971643C>T ENST00000279101.5 - 2 376 c.368G>A c.(367-369)cGa>cAa p.R123Q NM_031215.2 NP_112492.2 Q9BTV7 CABL2_HUMAN Cdk5 and Abl enzyme substrate 2 123 cell cycle|cell division|regulation of cell cycle|regulation of cell division cyclin-dependent protein kinase regulator activity endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1) 11 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;4.36e-06) GGACGTGACTCGCTTCCTGCA 0.647000 4 11 0 0 0.000248 0 0 MUC16 94025 broad.mit.edu 37 19 9084244 9084244 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr19:9084244G>A ENST00000397910.4 - 1 7774 c.7571C>T c.(7570-7572)cCt>cTt p.P2524L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2524 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 CTCTCCTGCAGGACTTGTCTT 0.512000 11 36 0 0 0.000978 0 0 DIAPH3 81624 broad.mit.edu 37 13 60240757 60240757 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr13:60240757G>A ENST00000400324.4 - 28 3763 c.3543C>T c.(3541-3543)ccC>ccT p.P1181P DIAPH3_ENST00000400319.1_Silent_p.P1111P|DIAPH3_ENST00000377908.2_Silent_p.P1170P|DIAPH3_ENST00000400330.1_Silent_p.P1181P|DIAPH3_ENST00000400320.1_Silent_p.P1135P NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 1181 actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) CTTCAACTTCGGGAACTGATT 0.363000 10 38 0 0 0.000443 0 0 MYH2 4620 broad.mit.edu 37 17 10432356 10432356 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr17:10432356C>T ENST00000245503.5 - 27 3779 c.3395G>A c.(3394-3396)cGg>cAg p.R1132Q MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1132Q|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1132 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCGGGAGGCCCGCTCTGCCTC 0.602000 20 57 0 0 0.002299 0 0 CAPN2 824 broad.mit.edu 37 1 223905501 223905501 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:223905501C>T ENST00000295006.5 + 2 584 c.275C>T c.(274-276)gCc>gTc p.A92V CAPN2_ENST00000433674.2_Missense_Mutation_p.A14V NM_001748.4 NP_001739.2 P17655 CAN2_HUMAN calpain 2, (m/II) large subunit 92 Calpain catalytic. proteolysis cytoplasm|plasma membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3) 29 GBM - Glioblastoma multiforme(131;0.109) ATTGGAGGAGCCACCCGCACA 0.557000 6 49 0 0 0.001984 0 0 SEMA4D 10507 broad.mit.edu 37 9 91994420 91994420 + Silent SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:91994420G>A ENST00000450295.1 - 16 2564 c.1788C>T c.(1786-1788)gcC>gcT p.A596A SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A596A|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.A596A|SEMA4D_ENST00000356444.2_Silent_p.A596A Q92854 SEM4D_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D 596 Ig-like C2-type. anti-apoptosis|axon guidance|cell adhesion|immune response integral to membrane|plasma membrane receptor activity|receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 TGGGGCTCTCGGCCTTCAACA 0.517000 59 200 0 0 0.003610 0 0 VPS13D 55187 broad.mit.edu 37 1 12445374 12445374 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr1:12445374C>T ENST00000358136.3 + 59 11556 c.11426C>T c.(11425-11427)cCt>cTt p.P3809L VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.P3784L NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 3808 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GATGAACTTCCTGTCACCGAA 0.373000 8 23 0 0 0.004482 0 0 ABCB11 8647 broad.mit.edu 37 2 169842630 169842630 + Missense_Mutation SNP G G A TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:169842630G>A ENST00000263817.6 - 10 1197 c.1073C>T c.(1072-1074)aCc>aTc p.T358I NM_003742.2 NP_003733.2 O95342 ABCBB_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 11 358 ABC transmembrane type-1 1. bile acid biosynthetic process apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1) 57 Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016) CTGGACAAGGGTTCCTGGTGT 0.428000 5 8 0 0 0.003080 0 0 ACTR3 10096 broad.mit.edu 37 2 114691884 114691884 + Missense_Mutation SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr2:114691884C>T ENST00000263238.2 + 6 781 c.461C>T c.(460-462)aCc>aTc p.T154I ACTR3_ENST00000536059.1_Missense_Mutation_p.T92I|ACTR3_ENST00000535589.2_Missense_Mutation_p.T103I NM_001277140.1|NM_005721.3 NP_001264069.1|NP_005712.1 P61158 ARP3_HUMAN ARP3 actin-related protein 3 homolog (yeast) 154 cellular component movement|cilium morphogenesis Arp2/3 protein complex actin binding|ATP binding autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2) 15 GCATCTTGGACCTCAAGACAA 0.393000 42 192 0 0 0.002852 0 0 OR2A7 401427 broad.mit.edu 37 7 143956659 143956659 + Silent SNP C C T TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr7:143956659C>T ENST00000493325.1 - 1 156 c.63G>A c.(61-63)agG>agA p.R21R RP4-798C17.6_ENST00000476560.1_RNA|RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000489488.1_RNA|RP4-798C17.6_ENST00000461843.1_RNA NM_001005328.1 NP_001005328.1 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, member 7 21 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(1)|lung(3)|ovary(1) 6 Melanoma(164;0.14) GCATCTGAATCCTTGGGCCAA 0.512000 23 170 0 0 0.001271 0 0 PLXND1 23129 broad.mit.edu 37 3 129289979 129289987 + In_Frame_Del DEL GAACCTGCT GAACCTGCT - TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr3:129289979_129289987delGAACCTGCT ENST00000393239.1 - 18 3674_3682 c.3496_3504delAGCAGGTTC c.(3496-3504)del p.SRF1166del PLXND1_ENST00000324093.4_In_Frame_Del_p.SRF1166del Q9Y4D7 PLXD1_HUMAN plexin D1 1166 axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGTCCAGGCGGAACCTGCTGCCCCGCTGT 0.632 17 154 --- --- --- --- TSC1 7248 broad.mit.edu 37 9 135785946 135785957 + Splice_Site DEL GCTGGATCGCAC GCTGGATCGCAC - TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr9:135785946_135785957delGCTGGATCGCAC ENST00000298552.3 - 12 1485 c.e12+1 TSC1_ENST00000545250.1_Splice_Site|TSC1_ENST00000440111.2_Splice_Site NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TAGCAGACGAGCTGGATCGCACCTTCCTGGGG 0.547 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 13 96 --- --- --- --- MIR3648-1 100500862 broad.mit.edu 37 21 9825838 9825839 + RNA INS - - GCG rs3052281 TCGA-D3-A1QB-06A-11D-A19A-08 TCGA-D3-A1QB-10A-01D-A19A-08 Untested Somatic Phase_I WXS none Illumina GAIIx d9dbe674-e1e0-4f85-864f-dbd853e80d8f b3383fec-2d55-4893-bf39-4625762ff91d g.chr21:9825838_9825839insGCG ENST00000581792.1 + 0 7_8 NR_037421.1 cggccgcgactgcggcggcggt 0.842 3 4 --- --- --- ---