#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DISP1	84976	broad.mit.edu	37	1	223116655	223116655	+	Missense_Mutation	SNP	C	C	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:223116655C>A	ENST00000284476.6	+	2	654	c.490C>A	c.(490-492)Cag>Aag	p.Q164K	DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	164					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GCCTGTGCAACAGCACATAGC	0.458																																						ENST00000284476.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(490-492)Cag>Aag		dispatched homolog 1 (Drosophila)							118.0	93.0	101.0					1																	223116655		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223116655C>A	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.490C>A	1.37:g.223116655C>A	ENSP00000284476:p.Gln164Lys		Somatic				DISP1_ENST00000495684.1_Intron|DISP1_ENST00000360254.2_Missense_Mutation_p.Q164K	p.Q164K	NM_032890.3	NP_116279.2	WXS	Illumina GAIIx	Phase_I	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	2	654	+			164					Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.490C>A	CCDS1536.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250013	0.39797	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.91894	0.74;-2.93	5.5	5.5	0.81552	.	0.307430	0.32231	N	0.006384	D	0.88771	0.6527	L	0.38838	1.175	0.39456	D	0.967485	B	0.09022	0.002	B	0.06405	0.002	D	0.84060	0.0374	10	0.30854	T	0.27	-18.2636	19.3812	0.94536	0.0:1.0:0.0:0.0	.	164	Q96F81	DISP1_HUMAN	K	164	ENSP00000355848:Q164K;ENSP00000284476:Q164K	ENSP00000284476:Q164K	Q	+	1	0	DISP1	221183278	1.000000	0.71417	0.953000	0.39169	0.983000	0.72400	5.629000	0.67798	2.579000	0.87056	0.603000	0.83216	CAG		0.458	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		10	87	10	87	---	---	---	---
OBSCN	84033	broad.mit.edu	37	1	228491377	228491377	+	Intron	SNP	C	C	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr1:228491377C>G	ENST00000422127.1	+	44	11703				OBSCN_ENST00000570156.2_Splice_Site_p.A4580A|OBSCN_ENST00000359599.6_3'UTR|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Splice_Site_p.A1270A	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTTTCCAGCCCTGCCGGCCA	0.557																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(13738-13740)gcC>gcG		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF							122.0	110.0	114.0					1																	228491377		876	1991	2867	SO:0001627	intron_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228491377C>G	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11660-2696C>G	1.37:g.228491377C>G			Somatic				OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Splice_Site_p.A1270A|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000359599.6_3'UTR	p.A4580A	NM_001271223.2	NP_001258152.2	WXS	Illumina GAIIx	Phase_I	Q5VST9	OBSCN_HUMAN			52	13814	+		Prostate(94;0.0405)	3623			Fibronectin type-III 3.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Splice_Site	SNP	ENST00000422127.1	37	c.13740C>G	CCDS58065.1																																																																																				0.557	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		8	74	8	74	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179480436	179480436	+	Missense_Mutation	SNP	G	G	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr2:179480436G>T	ENST00000591111.1	-	208	43693	c.43469C>A	c.(43468-43470)gCt>gAt	p.A14490D	TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A16131D|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D			Q8WZ42	TITIN_HUMAN	titin	14490	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			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)			TTTGTTACGAGCACAAACTTT	0.373																																						ENST00000589042.1																			0				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						c.(48391-48393)gCt>gAt		titin							178.0	167.0	171.0					2																	179480436		1892	4109	6001	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179480436G>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.43469C>A	2.37:g.179480436G>T	ENSP00000465570:p.Ala14490Asp		Somatic				TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A13563D|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A7191D|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A7066D|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A7258D|TTN_ENST00000591111.1_Missense_Mutation_p.A14490D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA	p.A16131D	NM_001267550.1	NP_001254479.1	WXS	Illumina GAIIx	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		258	48616	-			14490			Fibronectin type-III 17.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.48392C>A		.	.	.	.	.	.	.	.	.	.	G	15.58	2.876685	0.51801	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.90769	0.7102	H	0.99454	4.575	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.94378	0.7602	9	0.87932	D	0	.	19.9601	0.97247	0.0:0.0:1.0:0.0	.	7066;7191;7258;14490	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	13563;7066;7258;7191;7066	ENSP00000343764:A13563D;ENSP00000434586:A7066D;ENSP00000340554:A7258D;ENSP00000352154:A7191D	ENSP00000340554:A7258D	A	-	2	0	TTN	179188681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.696000	0.98695	2.720000	0.93068	0.655000	0.94253	GCT		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	83	13	83	---	---	---	---
F11	2160	broad.mit.edu	37	4	187201675	187201675	+	Missense_Mutation	SNP	T	T	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr4:187201675T>C	ENST00000403665.2	+	10	1428	c.1076T>C	c.(1075-1077)aTa>aCa	p.I359T	F11_ENST00000264692.4_Missense_Mutation_p.I307T	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	359	Apple 4. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	CCAACTAAAATACTTCACGGG	0.398																																						ENST00000264692.4																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(919-921)aTa>aCa		coagulation factor XI	Coagulation Factor IX(DB00100)						106.0	99.0	102.0					4																	187201675		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187201675T>C	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1076T>C	4.37:g.187201675T>C	ENSP00000384957:p.Ile359Thr		Somatic				F11_ENST00000403665.2_Missense_Mutation_p.I359T	p.I307T			WXS	Illumina GAIIx	Phase_I	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	10	1253	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	359			Apple 4.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.920T>C	CCDS3847.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.03|16.03	3.005796|3.005796	0.54254|0.54254	.|.	.|.	ENSG00000088926|ENSG00000088926	ENST00000403665;ENST00000264692|ENST00000452239	D;D|.	0.89415|.	-2.5;-2.51|.	5.59|5.59	5.59|5.59	0.84812|0.84812	Apple domain (2);PAN-1 domain (1);Apple-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.83133|0.83133	0.5188|0.5188	M|M	0.88241|0.88241	2.94|2.94	0.50313|0.50313	D|D	0.999862|0.999862	D|.	0.63046|.	0.992|.	D|.	0.66497|.	0.944|.	D|D	0.85992|0.85992	0.1489|0.1489	10|5	0.54805|.	T|.	0.06|.	.|.	16.0668|16.0668	0.80887|0.80887	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	359|.	P03951|.	FA11_HUMAN|.	T|H	359;307|175	ENSP00000384957:I359T;ENSP00000264692:I307T|.	ENSP00000264692:I307T|.	I|Y	+|+	2|1	0|0	F11|F11	187438669|187438669	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.263000|0.263000	0.26337|0.26337	3.613000|3.613000	0.54152|0.54152	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	ATA|TAC		0.398	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4			11	50	11	50	---	---	---	---
C5orf22	55322	broad.mit.edu	37	5	31534435	31534435	+	Silent	SNP	A	A	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:31534435A>T	ENST00000325366.9	+	2	265	c.138A>T	c.(136-138)gtA>gtT	p.V46V	DROSHA_ENST00000504361.1_5'Flank|C5orf22_ENST00000355907.3_De_novo_Start_OutOfFrame|DROSHA_ENST00000511367.2_5'Flank|DROSHA_ENST00000513349.1_5'Flank	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	46										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						CCAGTAATGTAAGTTTTTTAC	0.408																																						ENST00000355907.3																			0				kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18								chromosome 5 open reading frame 22							168.0	155.0	159.0					5																	31534435		2203	4300	6503	SO:0001819	synonymous_variant	55322							g.chr5:31534435A>T	AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.138A>T	5.37:g.31534435A>T			Somatic				C5orf22_ENST00000325366.9_Silent_p.V46V				WXS	Illumina GAIIx	Phase_I	Q49AR2	CE022_HUMAN			0	265	+								Q8ND28|Q8WU61|Q9NUR1	Translation_Start_Site	SNP	ENST00000325366.9	37		CCDS3895.1																																																																																				0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356		27	127	27	127	---	---	---	---
ZNF608	57507	broad.mit.edu	37	5	124036776	124036776	+	Missense_Mutation	SNP	A	A	T	rs558119594		TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr5:124036776A>T	ENST00000306315.5	-	2	1528	c.1093T>A	c.(1093-1095)Tgt>Agt	p.C365S	ZNF608_ENST00000504926.1_5'UTR	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	365							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GGCCCAAGACACTCTGGCTCT	0.443																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(1093-1095)Tgt>Agt		zinc finger protein 608							114.0	107.0	109.0					5																	124036776		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:124036776A>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.1093T>A	5.37:g.124036776A>T	ENSP00000307746:p.Cys365Ser		Somatic				ZNF608_ENST00000504926.1_5'UTR	p.C365S	NM_020747.2	NP_065798.2	WXS	Illumina GAIIx	Phase_I	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	2	1528	-		all_cancers(142;0.186)|Prostate(80;0.081)	365					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.1093T>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	A	27.7	4.857084	0.91433	.	.	ENSG00000168916	ENST00000306315;ENST00000509799;ENST00000513986	T	0.54071	0.59	5.93	5.93	0.95920	.	0.060137	0.64402	D	0.000002	T	0.68988	0.3061	L	0.53249	1.67	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.69760	-0.5058	10	0.54805	T	0.06	-12.3798	16.3943	0.83563	1.0:0.0:0.0:0.0	.	365	Q9ULD9	ZN608_HUMAN	S	365	ENSP00000307746:C365S	ENSP00000307746:C365S	C	-	1	0	ZNF608	124064675	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.932000	0.92897	2.281000	0.76405	0.533000	0.62120	TGT		0.443	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		9	73	9	73	---	---	---	---
CA8	767	broad.mit.edu	37	8	61137094	61137094	+	Splice_Site	SNP	A	A	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr8:61137094A>C	ENST00000317995.4	-	6	890		c.e6+1		CA8_ENST00000528666.1_Splice_Site	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII						one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	GTAAATACTCACCTGGTAATA	0.269																																						ENST00000317995.4																			0				endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16						c.e6+1		carbonic anhydrase VIII							81.0	91.0	88.0					8																	61137094		2203	4297	6500	SO:0001630	splice_region_variant	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61137094A>C	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.625+1T>G	8.37:g.61137094A>C			Somatic				CA8_ENST00000528666.1_Splice_Site		NM_004056.4	NP_004047.3	WXS	Illumina GAIIx	Phase_I	P35219	CAH8_HUMAN			6	890	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)						A8K0A5|B3KQZ7|Q32MY2	Splice_Site	SNP	ENST00000317995.4	37		CCDS6174.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.073005	0.76415	.	.	ENSG00000178538	ENST00000317995	.	.	.	6.03	6.03	0.97812	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5582	0.84512	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CA8	61299648	1.000000	0.71417	0.986000	0.45419	0.803000	0.45373	8.491000	0.90468	2.308000	0.77769	0.533000	0.62120	.		0.269	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1		Intron	11	101	11	101	---	---	---	---
SPATA6L	55064	broad.mit.edu	37	9	4604231	4604231	+	Missense_Mutation	SNP	T	T	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr9:4604231T>G	ENST00000454239.2	-	12	1373	c.1128A>C	c.(1126-1128)agA>agC	p.R376S	SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like	376																	GGTAGCTTGGTCTTTCAATGA	0.348																																						ENST00000454239.2																			0											c.(1126-1128)agA>agC		spermatogenesis associated 6-like							136.0	128.0	131.0					9																	4604231		1813	4084	5897	SO:0001583	missense	55064							g.chr9:4604231T>G	AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.1128A>C	9.37:g.4604231T>G	ENSP00000404277:p.Arg376Ser		Somatic				SPATA6L_ENST00000381890.5_Intron|SPATA6L_ENST00000381895.5_Missense_Mutation_p.R253S|SPATA6L_ENST00000475086.1_Missense_Mutation_p.R318S	p.R376S			WXS	Illumina GAIIx	Phase_I	B4DIY4	B4DIY4_HUMAN			12	1373	-			318					B4DIY4|Q5JVJ5|Q8IY90	Missense_Mutation	SNP	ENST00000454239.2	37	c.1128A>C		.	.	.	.	.	.	.	.	.	.	T	5.619	0.298892	0.10622	.	.	ENSG00000106686	ENST00000454239;ENST00000475086;ENST00000381895	T;T;T	0.52983	1.07;0.85;0.64	4.99	-0.198	0.13224	.	.	.	.	.	T	0.36276	0.0961	L	0.55481	1.735	0.09310	N	1	B;B;B	0.22746	0.043;0.074;0.028	B;B;B	0.23574	0.029;0.047;0.042	T	0.40739	-0.9547	9	0.54805	T	0.06	-16.2752	0.841	0.01150	0.1574:0.1859:0.1637:0.4929	.	318;253;376	B4DIY4;E7ENB5;Q8N4H0	.;.;CI068_HUMAN	S	376;318;253	ENSP00000404277:R376S;ENSP00000417063:R318S;ENSP00000371319:R253S	ENSP00000371319:R253S	R	-	3	2	C9orf68	4594231	0.773000	0.28580	0.001000	0.08648	0.003000	0.03518	0.782000	0.26788	-0.104000	0.12154	-1.024000	0.02432	AGA		0.348	SPATA6L-202	KNOWN	basic	protein_coding	protein_coding		NM_017985		5	44	5	44	---	---	---	---
TRIM8	81603	broad.mit.edu	37	10	104414839	104414839	+	Silent	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr10:104414839G>A	ENST00000302424.7	+	3	791	c.669G>A	c.(667-669)gaG>gaA	p.E223E	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	223					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCGCAGGAGAAAGTGAACC	0.562																																						ENST00000302424.7																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(667-669)gaG>gaA		tripartite motif containing 8							43.0	39.0	40.0					10																	104414839		2203	4300	6503	SO:0001819	synonymous_variant	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104414839G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.669G>A	10.37:g.104414839G>A			Somatic				TRIM8_ENST00000487927.1_3'UTR	p.E223E	NM_030912.2	NP_112174.2	WXS	Illumina GAIIx	Phase_I	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	3	791	+		Colorectal(252;0.122)						A6NI31|Q9C028	Silent	SNP	ENST00000302424.7	37	c.669G>A	CCDS31274.1																																																																																				0.562	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		5	38	5	38	---	---	---	---
CCNK	8812	broad.mit.edu	37	14	99961911	99961911	+	Missense_Mutation	SNP	C	C	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr14:99961911C>T	ENST00000389879.5	+	4	479	c.356C>T	c.(355-357)aCa>aTa	p.T119I	CCNK_ENST00000557165.1_3'UTR|CCNK_ENST00000555049.1_Missense_Mutation_p.T119I	NM_001099402.1	NP_001092872.1	O75909	CCNK_HUMAN	cyclin K	119					cellular response to DNA damage stimulus (GO:0006974)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of cell cycle arrest (GO:0071157)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cyclin K-CDK12 complex (GO:0002944)|cyclin K-CDK13 complex (GO:0002945)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase binding (GO:0019901)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|endometrium(2)|lung(3)	6		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)				ATCATCAAAACAGCTCGTAGT	0.378																																						ENST00000389879.5																			0				NS(1)|endometrium(2)|lung(3)	6						c.(355-357)aCa>aTa		cyclin K							142.0	138.0	140.0					14																	99961911		1835	4092	5927	SO:0001583	missense	8812				cell division|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein kinase binding	g.chr14:99961911C>T	AF060515	CCDS45160.1	14q32.2	2014-07-03			ENSG00000090061	ENSG00000090061			1596	protein-coding gene	gene with protein product		603544				9632813, 10574912	Standard	NM_001099402		Approved	CPR4	uc001ygi.4	O75909	OTTHUMG00000171495	ENST00000389879.5:c.356C>T	14.37:g.99961911C>T	ENSP00000374529:p.Thr119Ile		Somatic				CCNK_ENST00000555049.1_Missense_Mutation_p.T119I|CCNK_ENST00000557165.1_3'UTR	p.T119I	NM_001099402.1	NP_001092872.1	WXS	Illumina GAIIx	Phase_I	O75909	CCNK_HUMAN			4	479	+		all_cancers(154;0.224)|all_epithelial(191;0.0643)|Melanoma(154;0.0866)	119					Q59FT6|Q86U16|Q96B63|Q9NNY9	Missense_Mutation	SNP	ENST00000389879.5	37	c.356C>T	CCDS45160.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086914	0.76642	.	.	ENSG00000090061	ENST00000437596;ENST00000216279;ENST00000380246;ENST00000389879;ENST00000557441;ENST00000555049	T;T;T	0.08896	3.04;3.04;3.04	6.14	6.14	0.99180	Cyclin, N-terminal (1);Cyclin-like (3);	0.000000	0.85682	D	0.000000	T	0.21387	0.0515	L	0.35854	1.095	0.80722	D	1	P;B	0.41929	0.765;0.307	P;P	0.59056	0.851;0.511	T	0.00078	-1.2114	10	0.36615	T	0.2	-21.9794	20.8597	0.99761	0.0:1.0:0.0:0.0	.	119;119	O75909;O75909-2	CCNK_HUMAN;.	I	119	ENSP00000374529:T119I;ENSP00000450792:T119I;ENSP00000452307:T119I	ENSP00000216279:T119I	T	+	2	0	CCNK	99031664	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.666000	0.83877	2.937000	0.99478	0.650000	0.86243	ACA		0.378	CCNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413721.1			11	79	11	79	---	---	---	---
CNTROB	116840	broad.mit.edu	37	17	7852810	7852810	+	Silent	SNP	G	G	T	rs185320189	byFrequency	TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:7852810G>T	ENST00000563694.1	+	19	3619	c.2694G>T	c.(2692-2694)cgG>cgT	p.R898R	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000380262.3_Silent_p.R920R|CNTROB_ENST00000565740.1_Silent_p.R899R	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	898	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				TGAGGAGCCGGGGGGGAGTCT	0.552													G|||	6	0.00119808	0.0	0.0	5008	,	,		15670	0.006		0.0	False		,,,				2504	0.0					ENST00000380262.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25						c.(2758-2760)cgG>cgT		centrobin, centrosomal BRCA2 interacting protein							30.0	36.0	34.0					17																	7852810		2201	4299	6500	SO:0001819	synonymous_variant	116840				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding	g.chr17:7852810G>T	AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.2694G>T	17.37:g.7852810G>T			Somatic				CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.R899R|CNTROB_ENST00000563694.1_Silent_p.R898R	p.R920R	NM_001037144.5	NP_001032221.1	WXS	Illumina GAIIx	Phase_I	Q8N137	CNTRB_HUMAN			19	3685	+		Prostate(122;0.173)	898					A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Silent	SNP	ENST00000563694.1	37	c.2760G>T	CCDS11126.1																																																																																				0.552	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000421372.1	NM_053051		7	43	7	43	---	---	---	---
EPN2	22905	broad.mit.edu	37	17	19215386	19215386	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:19215386G>A	ENST00000314728.5	+	6	1385	c.901G>A	c.(901-903)Gat>Aat	p.D301N	EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	301					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|in utero embryonic development (GO:0001701)|Notch signaling pathway (GO:0007219)	clathrin coat of endocytic vesicle (GO:0030128)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	lipid binding (GO:0008289)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CAGGCGGGGTGATGACCTCAG	0.458																																						ENST00000314728.5																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19						c.(901-903)Gat>Aat		epsin 2							146.0	152.0	150.0					17																	19215386		2203	4300	6503	SO:0001583	missense	22905				endocytosis		lipid binding	g.chr17:19215386G>A	AB028988	CCDS11203.1, CCDS11204.1, CCDS42277.1	17p11.2	2012-11-19			ENSG00000072134	ENSG00000072134			18639	protein-coding gene	gene with protein product	"""Eps15 binding protein"""	607263				10567358	Standard	NM_014964		Approved	KIAA1065, EHB21	uc002gvd.4	O95208	OTTHUMG00000178447	ENST00000314728.5:c.901G>A	17.37:g.19215386G>A	ENSP00000320543:p.Asp301Asn		Somatic				EPN2_ENST00000395626.1_Missense_Mutation_p.D301N|EPN2_ENST00000347697.2_Missense_Mutation_p.D244N|EPN2_ENST00000575595.1_Missense_Mutation_p.D16N|EPN2_ENST00000395618.3_Missense_Mutation_p.D16N|EPN2_ENST00000395620.2_Missense_Mutation_p.D244N|EPN2_ENST00000571254.1_Missense_Mutation_p.D244N	p.D301N	NM_014964.4	NP_055779.2	WXS	Illumina GAIIx	Phase_I	O95208	EPN2_HUMAN			6	1385	+	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)		301					A8MTV8|B3KRX8|E9PBC2|O95207|Q52LD0|Q9H7Z2|Q9UPT7	Missense_Mutation	SNP	ENST00000314728.5	37	c.901G>A	CCDS11203.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969994	0.92855	.	.	ENSG00000072134	ENST00000347697;ENST00000395618;ENST00000314728;ENST00000395628;ENST00000395620;ENST00000395626	T;T;T;T;T;T	0.60548	2.14;0.68;1.38;1.1;2.14;0.18	5.39	4.42	0.53409	Ubiquitin interacting motif (2);	0.083744	0.85682	D	0.000000	T	0.76435	0.3987	M	0.81682	2.555	0.58432	D	0.999999	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;0.998;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.998;0.998;1.0;1.0;0.914;0.995;0.998;0.989	T	0.80195	-0.1483	10	0.72032	D	0.01	-21.2605	14.278	0.66194	0.0718:0.0:0.9282:0.0	.	244;244;16;16;301;244;244;301	Q52LD0;B7ZKM5;B7Z3A5;A8MTV8;E9PBC1;E7EMC3;E9PBC2;O95208	.;.;.;.;.;.;.;EPN2_HUMAN	N	244;16;301;244;244;301	ENSP00000261495:D244N;ENSP00000378980:D16N;ENSP00000320543:D301N;ENSP00000378990:D244N;ENSP00000378982:D244N;ENSP00000378988:D301N	ENSP00000320543:D301N	D	+	1	0	EPN2	19155979	1.000000	0.71417	0.992000	0.48379	0.993000	0.82548	9.191000	0.94940	1.283000	0.44513	0.655000	0.94253	GAT		0.458	EPN2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000132283.3	NM_014964		8	105	8	105	---	---	---	---
SPECC1	92521	broad.mit.edu	37	17	20109180	20109180	+	Silent	SNP	A	A	G			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr17:20109180A>G	ENST00000261503.5	+	4	1869	c.1818A>G	c.(1816-1818)ctA>ctG	p.L606L	SPECC1_ENST00000395530.2_Silent_p.L525L|SPECC1_ENST00000395525.3_Silent_p.L525L|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000395522.2_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000536879.1_Intron	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	606					cell adhesion (GO:0007155)	nucleus (GO:0005634)				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		AAGAATTACTAAAGGCAAACG	0.443																																						ENST00000395530.2																			0				breast(1)|large_intestine(3)|ovary(4)	8						c.(1573-1575)ctA>ctG		sperm antigen with calponin homology and coiled-coil domains 1							85.0	86.0	86.0					17																	20109180		2196	4294	6490	SO:0001819	synonymous_variant	92521					nucleus		g.chr17:20109180A>G	AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1818A>G	17.37:g.20109180A>G			Somatic				SPECC1_ENST00000395529.3_Silent_p.L606L|SPECC1_ENST00000584527.1_Silent_p.L24L|SPECC1_ENST00000261503.5_Silent_p.L606L|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000395522.2_Silent_p.L525L|SPECC1_ENST00000395527.4_Silent_p.L606L|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Silent_p.L525L|AC004702.2_ENST00000580225.1_lincRNA	p.L525L	NM_001033555.2	NP_001028727.1	WXS	Illumina GAIIx	Phase_I	Q5M775	CYTSB_HUMAN		KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)	2	1783	+			606					B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	c.1575A>G	CCDS32590.1																																																																																				0.443	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1	NM_152904		12	93	12	93	---	---	---	---
ZNF823	55552	broad.mit.edu	37	19	11832577	11832577	+	Missense_Mutation	SNP	G	G	T			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:11832577G>T	ENST00000341191.6	-	4	1925	c.1772C>A	c.(1771-1773)gCa>gAa	p.A591E	ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	591					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						AGAACTCAATGCTTTCCCACA	0.403										HNSCC(68;0.2)																												ENST00000341191.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						c.(1771-1773)gCa>gAa		zinc finger protein 823							85.0	86.0	86.0					19																	11832577		2203	4300	6503	SO:0001583	missense	55552				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11832577G>T	X51760	CCDS45981.1	19p13.2	2013-01-08			ENSG00000197933	ENSG00000197933		"""Zinc fingers, C2H2-type"", ""-"""	30936	protein-coding gene	gene with protein product	"""ZFP 36 for a zinc finger protein"""						Standard	XM_006722789		Approved	HSZFP36	uc002msm.2	P16415	OTTHUMG00000156528	ENST00000341191.6:c.1772C>A	19.37:g.11832577G>T	ENSP00000340683:p.Ala591Glu	HNSCC(68;0.2)	Somatic				ZNF823_ENST00000545749.1_Missense_Mutation_p.A409E	p.A591E	NM_001080493.2	NP_001073962.1	WXS	Illumina GAIIx	Phase_I	P16415	ZN823_HUMAN			4	1925	-			591					A0PJL4|B7Z8D4|Q6P4A9	Missense_Mutation	SNP	ENST00000341191.6	37	c.1772C>A	CCDS45981.1	.	.	.	.	.	.	.	.	.	.	-	12.17	1.857163	0.32791	.	.	ENSG00000197933	ENST00000545749;ENST00000341191	T;T	0.19669	2.13;2.13	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29288	0.0729	L	0.52266	1.64	0.09310	N	1	P	0.52170	0.951	P	0.56434	0.798	T	0.10177	-1.0641	9	0.87932	D	0	.	6.098	0.20031	0.0:0.3251:0.6748:0.0	.	591	P16415	ZN823_HUMAN	E	409;591	ENSP00000440162:A409E;ENSP00000340683:A591E	ENSP00000340683:A591E	A	-	2	0	ZNF823	11693577	0.000000	0.05858	0.002000	0.10522	0.335000	0.28730	-0.048000	0.11944	0.623000	0.30267	0.305000	0.20034	GCA		0.403	ZNF823-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344516.2	NM_001080493		4	75	4	75	---	---	---	---
DMRTC2	63946	broad.mit.edu	37	19	42351581	42351581	+	Missense_Mutation	SNP	G	G	C			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr19:42351581G>C	ENST00000269945.3	+	2	136	c.85G>C	c.(85-87)Gag>Cag	p.E29Q	LYPD4_ENST00000601246.1_5'Flank|DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q|LYPD4_ENST00000330743.3_5'Flank|DMRTC2_ENST00000602098.1_3'UTR	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2	29					male meiosis I (GO:0007141)|positive regulation of histone H3-K9 dimethylation (GO:1900111)|positive regulation of histone H3-K9 trimethylation (GO:1900114)|sex differentiation (GO:0007548)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|XY body (GO:0001741)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CCAGAGCACAGAGCTGATCCC	0.637																																						ENST00000269945.3																			0				endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						c.(85-87)Gag>Cag		DMRT-like family C2							81.0	81.0	81.0					19																	42351581		2203	4300	6503	SO:0001583	missense	63946				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr19:42351581G>C	AJ291669	CCDS33034.1	19q13.2	2008-07-16				ENSG00000142025			13911	protein-coding gene	gene with protein product		614806				11863363	Standard	NM_001040283		Approved		uc002ors.3	Q8IXT2		ENST00000269945.3:c.85G>C	19.37:g.42351581G>C	ENSP00000269945:p.Glu29Gln		Somatic				DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.E29Q	p.E29Q	NM_001040283.1	NP_001035373.1	WXS	Illumina GAIIx	Phase_I	Q8IXT2	DMRTD_HUMAN			2	136	+			29					Q8N6Q2|Q96M39|Q96SD4	Missense_Mutation	SNP	ENST00000269945.3	37	c.85G>C	CCDS33034.1	.	.	.	.	.	.	.	.	.	.	G	15.13	2.743392	0.49151	.	.	ENSG00000142025	ENST00000269945	.	.	.	4.54	3.5	0.40072	.	0.563509	0.14478	N	0.317122	T	0.49133	0.1539	L	0.36672	1.1	0.20196	N	0.99993	D;D	0.63880	0.993;0.963	D;P	0.72982	0.979;0.527	T	0.21177	-1.0253	9	0.46703	T	0.11	-9.7816	7.5654	0.27876	0.1133:0.0:0.8867:0.0	.	29;29	B4DX56;Q8IXT2	.;DMRTD_HUMAN	Q	29	.	ENSP00000269945:E29Q	E	+	1	0	DMRTC2	47043421	0.998000	0.40836	0.795000	0.32087	0.335000	0.28730	4.055000	0.57441	2.472000	0.83506	0.561000	0.74099	GAG		0.637	DMRTC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463045.1	NM_001040283		15	138	15	138	---	---	---	---
FAM47B	170062	broad.mit.edu	37	X	34960974	34960974	+	Missense_Mutation	SNP	G	G	A			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chrX:34960974G>A	ENST00000329357.5	+	1	62	c.26G>A	c.(25-27)cGg>cAg	p.R9Q		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	9										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCACAGGACCGGCCAAGGTCC	0.627																																						ENST00000329357.5																			0				breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						c.(25-27)cGg>cAg		family with sequence similarity 47, member B							25.0	21.0	22.0					X																	34960974		2202	4299	6501	SO:0001583	missense	170062							g.chrX:34960974G>A	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.26G>A	X.37:g.34960974G>A	ENSP00000328307:p.Arg9Gln		Somatic					p.R9Q	NM_152631.2	NP_689844.2	WXS	Illumina GAIIx	Phase_I	Q8NA70	FA47B_HUMAN			1	62	+			9					Q5JQN5|Q6PIG3	Missense_Mutation	SNP	ENST00000329357.5	37	c.26G>A	CCDS14236.1	.	.	.	.	.	.	.	.	.	.	G	4.064	0.009606	0.07912	.	.	ENSG00000189132	ENST00000329357	T	0.20598	2.06	0.843	-0.217	0.13149	.	.	.	.	.	T	0.11537	0.0281	L	0.38838	1.175	0.09310	N	1	B	0.33494	0.414	B	0.18263	0.021	T	0.20874	-1.0262	8	0.32370	T	0.25	.	.	.	.	.	9	Q8NA70	FA47B_HUMAN	Q	9	ENSP00000328307:R9Q	ENSP00000328307:R9Q	R	+	2	0	FAM47B	34870895	0.002000	0.14202	0.013000	0.15412	0.020000	0.10135	0.364000	0.20325	-0.147000	0.11254	0.292000	0.19580	CGG		0.627	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		5	13	5	13	---	---	---	---
HSP90AB1	3326	broad.mit.edu	37	6	44216408	44216409	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-SU-A7E7-01A-22D-A33T-08	TCGA-SU-A7E7-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c0c3acfc-b0cc-41e0-833d-928662350c68	a31e4ea8-9af6-4430-845c-9eef051c1179	g.chr6:44216408_44216409delTT	ENST00000371554.1	+	2	256_257	c.42_43delTT	c.(40-45)acttttfs	p.F15fs	HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F15fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F15fs			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	15					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			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)			AGGTGGAGACTTTTGCCTTTCA	0.411																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(40-45)acttttfs		heat shock protein 90kDa alpha (cytosolic), class B member 1																																				SO:0001589	frameshift_variant	3326				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	g.chr6:44216408_44216409delTT	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.42_43delTT	6.37:g.44216410_44216411delTT	ENSP00000360609:p.Phe15fs		Somatic				HSP90AB1_ENST00000353801.3_Frame_Shift_Del_p.F15fs|HSP90AB1_ENST00000371646.5_Frame_Shift_Del_p.F15fs	p.F15fs			WXS	Illumina GAIIx	Phase_I	P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		2	256_257	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		15					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Frame_Shift_Del	DEL	ENST00000371554.1	37	c.42_43delTT	CCDS4909.1																																																																																				0.411	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		11	115	11	115	---	---	---	---
