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 KANK4 163782 broad.mit.edu 37 1 62739491 62739491 + Missense_Mutation SNP C C T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr1:62739491C>T ENST00000371153.4 - 3 1663 c.1285G>A c.(1285-1287)Gat>Aat p.D429N KANK4_ENST00000354381.3_Intron NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 429 p.D429N(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 ATGCCCTTATCACACGACTCC 0.547 6 224 --- --- --- --- HFM1 164045 broad.mit.edu 37 1 91781959 91781959 + Nonsense_Mutation SNP C C A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr1:91781959C>A ENST00000370425.3 - 26 2985 c.2887G>T c.(2887-2889)Gaa>Taa p.E963* HFM1_ENST00000294696.5_Nonsense_Mutation_p.E195*|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000370424.3_Nonsense_Mutation_p.E642* NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 963 SEC63. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.E963*(1) breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AATTCAAGTTCCCTTGCATCT 0.303 7 86 --- --- --- --- ITGB1BP1 9270 broad.mit.edu 37 2 9558813 9558813 + Missense_Mutation SNP C C T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr2:9558813C>T ENST00000360635.3 - 3 910 c.14G>A c.(13-15)gGc>gAc p.G5D ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.G5D|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.G5D O14713 ITBP1_HUMAN integrin beta 1 binding protein 1 5 cell migration|cell-matrix adhesion|intracellular protein kinase cascade cytosol|lamellipodium|membrane|ruffle protein binding p.G5D(1) kidney(2)|large_intestine(2)|lung(2)|prostate(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.23) TCGTTTTTTGCCCTTGCGAAA 0.393 5 231 --- --- --- --- SIX2 10736 broad.mit.edu 37 2 45233549 45233549 + Silent SNP C C T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr2:45233549C>T ENST00000303077.6 - 2 955 c.636G>A c.(634-636)tcG>tcA p.S212S NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 212 nucleus sequence-specific DNA binding transcription factor activity p.S212S(2) endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TCTCATCCTCCGAGCTGCCTA 0.632 39 105 --- --- --- --- SPEG 10290 broad.mit.edu 37 2 220331957 220331957 + Silent SNP C C T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr2:220331957C>T ENST00000312358.7 + 10 3075 c.2943C>T c.(2941-2943)gcC>gcT p.A981A SPEG_ENST00000485813.1_3'UTR NM_005876.4 NP_005867.3 Q15772 SPEG_HUMAN SPEG complex locus 981 Ig-like 4. muscle organ development|negative regulation of cell proliferation nucleus ATP binding|protein serine/threonine kinase activity p.A981A(2) breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4) 100 Renal(207;0.0183) Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163) ACGTGGGGGCCGGGGAGATGG 0.692 OREG0004000 type=REGULATORY REGION|Gene=APEG1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 57 104 --- --- --- --- DCBLD2 131566 broad.mit.edu 37 3 98519475 98519475 + Silent SNP A A C TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr3:98519475A>C ENST00000326840.6 - 15 2168 c.1806T>G c.(1804-1806)gtT>gtG p.V602V DCBLD2_ENST00000326857.9_Silent_p.V616V NM_080927.3 NP_563615.3 Q96PD2 DCBD2_HUMAN discoidin, CUB and LCCL domain containing 2 602 cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane p.V602V(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 TCAGGTGATTAACTTCGCTGC 0.507 3 153 --- --- --- --- PFN2 5217 broad.mit.edu 37 3 149686232 149686232 + Missense_Mutation SNP C C A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr3:149686232C>A ENST00000239940.7 - 2 490 c.238G>T c.(238-240)Gtc>Ttc p.V80F PFN2_ENST00000481275.1_Missense_Mutation_p.V31F|PFN2_ENST00000498307.1_Missense_Mutation_p.V31F|PFN2_ENST00000490975.1_Missense_Mutation_p.V80F|PFN2_ENST00000452853.2_Missense_Mutation_p.V80F|PFN2_ENST00000489155.1_Missense_Mutation_p.V31F|PFN2_ENST00000494827.1_Missense_Mutation_p.V31F|PFN2_ENST00000461868.1_Missense_Mutation_p.V80F|PFN2_ENST00000497148.1_Missense_Mutation_p.V31F|PFN2_ENST00000475518.1_Missense_Mutation_p.V31F|PFN2_ENST00000481767.1_Missense_Mutation_p.V31F|PFN2_ENST00000423691.2_Missense_Mutation_p.V80F|PFN2_ENST00000461930.1_3'UTR P35080 PROF2_HUMAN profilin 2 80 actin cytoskeleton organization|regulation of actin polymerization or depolymerization actin cytoskeleton|cytoplasm actin binding|phosphatidylinositol-4,5-bisphosphate binding p.V80F(2) large_intestine(1)|lung(4)|ovary(1)|prostate(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) TCACCATCGACGTATAGACTA 0.473 70 190 --- --- --- --- SKIV2L2 23517 broad.mit.edu 37 5 54642959 54642959 + Missense_Mutation SNP A A C TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr5:54642959A>C ENST00000230640.5 + 11 1481 c.1227A>C c.(1225-1227)ttA>ttC p.L409F SKIV2L2_ENST00000545714.1_Missense_Mutation_p.L308F NM_015360.4 NP_056175.3 P42285 SK2L2_HUMAN superkiller viralicidic activity 2-like 2 (S. cerevisiae) 409 Helicase C-terminal. maturation of 5.8S rRNA catalytic step 2 spliceosome|nucleolus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.L409F(1) NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194) TGACCAAATTAGATTTCAACA 0.269 27 68 --- --- --- --- ZNF366 167465 broad.mit.edu 37 5 71739880 71739880 + Missense_Mutation SNP C C A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr5:71739880C>A ENST00000318442.5 - 5 2428 c.1938G>T c.(1936-1938)gaG>gaT p.E646D NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E646D(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) TGGACAGATCCTCGGGTGTGC 0.632 5 284 --- --- --- --- ZNF366 167465 broad.mit.edu 37 5 71756812 71756812 + Missense_Mutation SNP G G A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr5:71756812G>A ENST00000318442.5 - 2 1002 c.512C>T c.(511-513)cCc>cTc p.P171L NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GTAGGGCGTGGGCAGGAATGG 0.642 5 182 --- --- --- --- PCDHA13 56136 broad.mit.edu 37 5 140261920 140261920 + Missense_Mutation SNP G G T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr5:140261920G>T ENST00000289272.2 + 1 67 c.67G>T c.(67-69)Gcc>Tcc p.A23S PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.A23S|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.A23S(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCCTCGCAGCCTGGGAGAC 0.602 5 246 --- --- --- --- RWDD2A 112611 broad.mit.edu 37 6 83905528 83905528 + Missense_Mutation SNP A A T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr6:83905528A>T ENST00000369724.4 + 3 621 c.416A>T c.(415-417)aAg>aTg p.K139M RWDD2A_ENST00000539997.1_Missense_Mutation_p.K85M NM_033411.3 NP_219479.2 Q9UIY3 RWD2A_HUMAN RWD domain containing 2A 139 p.K139M(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1) 5 all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217) BRCA - Breast invasive adenocarcinoma(397;0.045) CTGAACAGAAAGCTTGTATAT 0.433 42 69 --- --- --- --- TNFAIP3 7128 broad.mit.edu 37 6 138197133 138197133 + Splice_Site SNP A A G TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr6:138197133A>G ENST00000237289.4 + 5 701 c.635A>G c.(634-636)gAc>gGc p.D212G TNFAIP3_ENST00000485192.1_3'UTR NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 212 OTU.|TRAF-binding. anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25)|p.D212G(1) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTTTGAACAGACAAAATGCTA 0.438 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 20 78 --- --- --- --- QKI 9444 broad.mit.edu 37 6 163983069 163983069 + Missense_Mutation SNP A A G TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr6:163983069A>G ENST00000361752.3 + 5 1153 c.602A>G c.(601-603)aAt>aGt p.N201S QKI_ENST00000275262.7_Missense_Mutation_p.N201S|QKI_ENST00000424802.3_Missense_Mutation_p.N201S|QKI_ENST00000392127.2_Missense_Mutation_p.N201S|QKI_ENST00000453779.2_Missense_Mutation_p.N201S|QKI_ENST00000361195.2_Missense_Mutation_p.N201S NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 201 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding p.N201S(2) central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) GCGATTCTGAATGGCACCTAC 0.448 20 41 --- --- --- --- EVX1 2128 broad.mit.edu 37 7 27283058 27283058 + Missense_Mutation SNP G G A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr7:27283058G>A ENST00000496902.4 + 1 895 c.409G>A c.(409-411)Gag>Aag p.E137K EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000535619.1_Intron|EVX1_ENST00000222761.3_Intron P49640 EVX1_HUMAN even-skipped homeobox 1 137 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.E137K(1) kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1) 14 CGGGAACGCCGAGTACCAGCA 0.657 4 41 --- --- --- --- TRGC1 6966 broad.mit.edu 37 7 38305254 38305254 + RNA SNP G G A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr7:38305254G>A ENST00000443402.2 - 0 25 NM_001003799.1|NM_001003806.1 NP_001003799.1|NP_001003806.1 TGGGCTTGGGGGAAACATCTG 0.378 81 196 --- --- --- --- RP1 6101 broad.mit.edu 37 8 55533728 55533728 + Missense_Mutation SNP G G A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr8:55533728G>A ENST00000220676.1 + 2 350 c.202G>A c.(202-204)Gat>Aat p.D68N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 68 Doublecortin 1. axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding p.D68N(1) NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) TGCTCTGCTGGATAACTTGTC 0.597 4 133 --- --- --- --- ANO3 63982 broad.mit.edu 37 11 26620449 26620449 + Missense_Mutation SNP G G T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr11:26620449G>T ENST00000256737.3 + 16 2427 c.1575G>T c.(1573-1575)gaG>gaT p.E525D ANO3_ENST00000525139.1_Missense_Mutation_p.E509D|ANO3_ENST00000537978.1_Missense_Mutation_p.E509D|ANO3_ENST00000531568.1_Missense_Mutation_p.E379D NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 525 chloride channel complex chloride channel activity p.E525D(1) breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 ACAAGATGGAGATTGTAAATC 0.383 9 31 --- --- --- --- KHNYN 23351 broad.mit.edu 37 14 24901309 24901309 + Missense_Mutation SNP G G T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr14:24901309G>T ENST00000251343.5 + 3 981 c.842G>T c.(841-843)tGg>tTg p.W281L KHNYN_ENST00000556842.1_Missense_Mutation_p.W281L|KHNYN_ENST00000553935.1_Missense_Mutation_p.W281L O15037 KHNYN_HUMAN KH and NYN domain containing 281 p.W281L(1) kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3) 24 GAAGAGGCGTGGGAGAGAGAA 0.622 OREG0022627 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 34 --- --- --- --- SIX1 6495 broad.mit.edu 37 14 61115639 61115639 + Missense_Mutation SNP G G A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr14:61115639G>A ENST00000247182.6 - 1 541 c.269C>T c.(268-270)gCg>gTg p.A90V SIX1_ENST00000554986.1_Intron NM_005982.3 NP_005973.1 Q15475 SIX1_HUMAN SIX homeobox 1 90 branching involved in ureteric bud morphogenesis|embryonic cranial skeleton morphogenesis|epithelial cell differentiation|inner ear morphogenesis|mesonephric tubule formation|metanephric mesenchyme development|myoblast migration|negative regulation of neuron apoptosis|organ induction|pattern specification process|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|protein localization to nucleus|regulation of branch elongation involved in ureteric bud branching|regulation of neuron differentiation|skeletal muscle tissue development|thymus development|thyroid gland development nucleolus|transcription factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding p.A90V(1) breast(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0201) CACGTAATGCGCCTTCAGCCA 0.627 6 189 --- --- --- --- TSHR 7253 broad.mit.edu 37 14 81422160 81422160 + Missense_Mutation SNP C C T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr14:81422160C>T ENST00000541158.2 + 2 458 c.136C>T c.(136-138)Cgc>Tgc p.R46C TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000554435.1_Missense_Mutation_p.R46C|TSHR_ENST00000554263.1_Missense_Mutation_p.R46C|TSHR_ENST00000342443.6_Missense_Mutation_p.R46C|TSHR_ENST00000298171.2_Missense_Mutation_p.R46C P16473 TSHR_HUMAN thyroid stimulating hormone receptor 46 cell-cell signaling|positive regulation of cell proliferation integral to plasma membrane protein binding|thyroid-stimulating hormone receptor activity p.R46C(3) breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1) 337 BRCA - Breast invasive adenocarcinoma(234;0.0402) Thyrotropin Alfa(DB00024) GGATATTCAACGCATCCCCAG 0.607 Mis toxic thyroid adenoma thyroid adenoma Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism 31 92 --- --- --- --- FOXL1 2300 broad.mit.edu 37 16 86612373 86612373 + Missense_Mutation SNP C C T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr16:86612373C>T ENST00000320241.3 + 1 259 c.44C>T c.(43-45)tCg>tTg p.S15L NM_005250.2 NP_005241.1 Q12952 FOXL1_HUMAN forkhead box L1 15 brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.S15L(1) central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1) 15 CTGGCCGCCTCGCCCATGCTG 0.726 18 73 --- --- --- --- GLP2R 9340 broad.mit.edu 37 17 9739734 9739734 + Missense_Mutation SNP T T A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr17:9739734T>A ENST00000262441.5 + 3 837 c.324T>A c.(322-324)caT>caA p.H108Q GLP2R_ENST00000574745.1_5'UTR NM_004246.1 NP_004237.1 O95838 GLP2R_HUMAN glucagon-like peptide 2 receptor 108 G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation integral to membrane|plasma membrane p.H108Q(1) endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 44 Glucagon recombinant(DB00040) GTTGGCCTCATTCTTCTCCTG 0.428 15 140 --- --- --- --- MYH4 4622 broad.mit.edu 37 17 10356642 10356642 + Missense_Mutation SNP T T G TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr17:10356642T>G ENST00000255381.2 - 24 3048 c.2938A>C c.(2938-2940)Aaa>Caa p.K980Q CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 980 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.K980Q(1) NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 GTGAGGTTTTTCACCTTTAGA 0.438 38 90 --- --- --- --- CCDC57 284001 broad.mit.edu 37 17 80129645 80129645 + Missense_Mutation SNP T T C TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr17:80129645T>C ENST00000389641.4 - 12 1850 c.1814A>G c.(1813-1815)gAt>gGt p.D605G CCDC57_ENST00000392347.1_Missense_Mutation_p.D605G|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.D605G Q2TAC2 CCD57_HUMAN coiled-coil domain containing 57 605 p.D605G(2) endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1) 16 Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227) BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253) CTTTAAAGGATCCAACACATC 0.468 5 92 --- --- --- --- ZNF799 90576 broad.mit.edu 37 19 12501649 12501649 + Silent SNP T T A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr19:12501649T>A ENST00000419318.1 - 4 2216 c.1467A>T c.(1465-1467)gtA>gtT p.V489V ZNF799_ENST00000430385.3_Silent_p.V521V|CTD-3105H18.14_ENST00000435033.1_Intron Q96GE5 ZN799_HUMAN zinc finger protein 799 521 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.V308V(1)|p.V521V(1) breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2) 19 TTCTTTCATGTACTTTTAAGT 0.388 5 76 --- --- --- --- CCDC8 83987 broad.mit.edu 37 19 46915974 46915974 + Missense_Mutation SNP T T C TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr19:46915974T>C ENST00000307522.3 - 1 867 c.94A>G c.(94-96)Acc>Gcc p.T32A NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 32 plasma membrane p.T32A(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) gcttccttggtggcgggctta 0.637 3 78 --- --- --- --- TPX2 22974 broad.mit.edu 37 20 30363692 30363692 + Nonsense_Mutation SNP G G T TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr20:30363692G>T ENST00000340513.4 + 8 1159 c.631G>T c.(631-633)Gag>Tag p.E211* TPX2_ENST00000300403.6_Nonsense_Mutation_p.E211* Q9ULW0 TPX2_HUMAN TPX2, microtubule-associated 211 activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization cytoplasm|microtubule|nucleus|spindle pole ATP binding|GTP binding|protein kinase binding p.E211*(1) cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656) AAAAAGTACTGAGGAGCAAGA 0.418 24 54 --- --- --- --- ADA 100 broad.mit.edu 37 20 43257807 43257807 + Missense_Mutation SNP C C A TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr20:43257807C>A ENST00000372874.4 - 3 233 c.99G>T c.(97-99)agG>agT p.R33S ADA_ENST00000537820.1_Missense_Mutation_p.R33S NM_000022.2 NP_000013.2 P00813 ADA_HUMAN adenosine deaminase 33 adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome adenosine deaminase activity|protein binding|zinc ion binding p.R33S(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1) 18 all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194) CGATCCCTCTCCTCCTGGAAA 0.602 Adenosine Deaminase Deficiency 14 66 --- --- --- --- RC3H1 149041 broad.mit.edu 37 1 173941766 173941767 + Splice_Site INS - - TA TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr1:173941766_173941767insTA ENST00000367696.2 - 8 1454 c.e8-1 RC3H1_ENST00000258349.4_Splice_Site|RC3H1_ENST00000367694.2_Splice_Site Q5TC82 RC3H1_HUMAN ring finger and CCCH-type domains 1 cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway cytoplasmic mRNA processing body|stress granule mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 50 GGAGGAGCATCTATACAACCAA 0.361 11 69 --- --- --- --- ERCC6 2074 broad.mit.edu 37 10 50736488 50736492 + Frame_Shift_Del DEL ATCTA ATCTA - TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr10:50736488_50736492delATCTA ENST00000355832.5 - 4 701_705 c.623_627delTAGAT c.(622-627)ctagatfs p.LD208fs ERCC6-PGBD3_ENST00000447839.2_Frame_Shift_Del_p.LD208fs|ERCC6-PGBD3_ENST00000515869.1_Frame_Shift_Del_p.LD208fs|PGBD3_ENST00000603152.1_Frame_Shift_Del_p.LD208fs NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 208 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GACTGGCGTGATCTAGTTCAATTTT 0.459 Direct reversal of damage;Nucleotide excision repair (NER) 16 56 --- --- --- --- KLK2 3817 broad.mit.edu 37 19 51379825 51379826 + Frame_Shift_Del DEL AA AA - TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr19:51379825_51379826delAA ENST00000325321.3 + 3 529_530 c.304_305delAA c.(304-306)aatfs p.N102fs KLK2_ENST00000391810.2_5'UTR|KLK2_ENST00000358049.4_Frame_Shift_Del_p.N102fs P20151 KLK2_HUMAN kallikrein-related peptidase 2 102 Peptidase S1. proteolysis serine-type endopeptidase activity KLK2/ETV1(3)|KLK2/ETV4(2) large_intestine(3)|lung(6)|ovary(1)|skin(1) 11 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871) CCCGCTCTACAATATGAGCCTT 0.554 T ETV4 prostate 15 34 --- --- --- --- SFI1 9814 broad.mit.edu 37 22 32007282 32007282 + Frame_Shift_Del DEL G G - TCGA-G9-6494-01A-11D-1786-08 TCGA-G9-6494-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx 75d67b53-8534-402e-b082-1b75ec2aff1e 2821a5f1-f23f-467c-aa21-b9a0f8d623d8 g.chr22:32007282delG ENST00000432498.1 + 22 2708 c.2315delG c.(2314-2316)aggfs p.R772fs SFI1_ENST00000400288.2_Frame_Shift_Del_p.R803fs|SFI1_ENST00000540643.1_Frame_Shift_Del_p.R748fs|SFI1_ENST00000414585.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000443326.1_Frame_Shift_Del_p.R721fs|SFI1_ENST00000443011.1_Frame_Shift_Del_p.R650fs|SFI1_ENST00000400289.1_Frame_Shift_Del_p.R721fs NM_014775.3 NP_055590.2 A8K8P3 SFI1_HUMAN Sfi1 homolog, spindle assembly associated (yeast) 803 G2/M transition of mitotic cell cycle centriole|cytosol NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3) 38 CAGTGTGTCAGGAAGAGGGTG 0.622 10 26 --- --- --- ---