#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_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TERT	7015	broad.mit.edu	37	5	1280418	1280418	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:1280418G>A	ENST00000310581.5	-	4	1862	c.1805C>T	c.(1804-1806)tCg>tTg	p.S602L	TERT_ENST00000334602.6_Missense_Mutation_p.S602L|TERT_ENST00000508104.2_Missense_Mutation_p.S602L|TERT_ENST00000296820.5_Missense_Mutation_p.S602L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	602					DNA strand elongation (GO:0022616)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|replicative senescence (GO:0090399)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|telomerase holoenzyme complex (GO:0005697)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|telomerase activity (GO:0003720)|telomeric DNA binding (GO:0042162)|telomeric RNA binding (GO:0070034)|telomeric template RNA reverse transcriptase activity (GO:0003721)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		Zidovudine(DB00495)	CTCTGCTTCCGACAGCTCCCG	0.632									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis																													ENST00000310581.5																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41						c.(1804-1806)tCg>tTg		telomerase reverse transcriptase							56.0	53.0	54.0					5																	1280418		2203	4300	6503	SO:0001583	missense	0	TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis	Familial Cancer Database	;Hamman-Rich syndrome, Fibrocystic Pulmonary Dysplasia;Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	g.chr5:1280418G>A	AF015950	CCDS3861.2, CCDS54831.1	5p15.33	2014-09-17			ENSG00000164362	ENSG00000164362			11730	protein-coding gene	gene with protein product		187270				9252327	Standard	NM_198253		Approved	TRT, TP2, TCS1, hEST2, EST2	uc003jcb.1	O14746	OTTHUMG00000090357	ENST00000310581.5:c.1805C>T	5.37:g.1280418G>A	ENSP00000309572:p.Ser602Leu					TERT_ENST00000508104.2_Missense_Mutation_p.S602L|TERT_ENST00000334602.6_Missense_Mutation_p.S602L|TERT_ENST00000296820.5_Missense_Mutation_p.S602L	p.S602L	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		4	1862	-	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		602					O14783|Q2XS35|Q8N6C3|Q8NG38|Q8NG46	Missense_Mutation	SNP	ENST00000310581.5	37	c.1805C>T	CCDS3861.2	.	.	.	.	.	.	.	.	.	.	G	14.70	2.614482	0.46631	.	.	ENSG00000164362	ENST00000310581;ENST00000296820;ENST00000334602;ENST00000508104	D;D;D;D	0.97114	-4.25;-4.19;-4.14;-4.19	4.48	4.48	0.54585	.	0.123713	0.56097	D	0.000039	D	0.98124	0.9381	M	0.80183	2.485	0.33997	D	0.649852	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.69479	0.928;0.964;0.849	D	0.99971	1.2000	10	0.66056	D	0.02	-2.4207	14.0835	0.64939	0.0:0.0:1.0:0.0	.	602;602;602	O14746-3;O14746;Q8NG38	.;TERT_HUMAN;.	L	602	ENSP00000309572:S602L;ENSP00000296820:S602L;ENSP00000334346:S602L;ENSP00000426042:S602L	ENSP00000296820:S602L	S	-	2	0	TERT	1333418	0.772000	0.28567	0.185000	0.23176	0.093000	0.18481	5.177000	0.65032	2.038000	0.60285	0.407000	0.27541	TCG		0.632	TERT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206729.2			5	82	0	0	0	1	0	5	82				
KRTAP4-7	100132476	broad.mit.edu	37	17	39240908	39240908	+	Silent	SNP	T	T	C			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr17:39240908T>C	ENST00000391417.4	+	1	450	c.450T>C	c.(448-450)tgT>tgC	p.C150C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	205	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].		Missing. {ECO:0000269|PubMed:15955084}.		aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C150C(1)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						CCTTGTGCTGTGCCTCCTCTT	0.607																																						ENST00000391417.4																			1	Substitution - coding silent(1)	p.C150C(1)	lung(1)	NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						c.(448-450)tgT>tgC		keratin associated protein 4-7							90.0	87.0	88.0					17																	39240908		692	1591	2283	SO:0001819	synonymous_variant	100132476							g.chr17:39240908T>C	AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.450T>C	17.37:g.39240908T>C							p.C150C	NM_033061.3	NP_149050.3					1	450	+								A0AVM6|A8MQ08|A8MTL4	Silent	SNP	ENST00000391417.4	37	c.450T>C	CCDS45673.1																																																																																				0.607	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257686.1			3	17	0	0	0	1	0	3	17				
MYH7	4625	broad.mit.edu	37	14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542																																						ENST00000355349.3																			0				NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137						c.(1300-1302)aGg>aAg		myosin, heavy chain 7, cardiac muscle, beta							144.0	127.0	133.0					14																	23898270		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23898270C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1301G>A	14.37:g.23898270C>T	ENSP00000347507:p.Arg434Lys						p.R434K	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	14	1463	-	all_cancers(95;2.54e-05)		434			Myosin head-like.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.1301G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	c	1.349	-0.591893	0.03799	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.88664	-2.41	4.18	-2.61	0.06171	Myosin head, motor domain (2);	.	.	.	.	T	0.78419	0.4280	N	0.25825	0.765	0.21782	N	0.999541	B	0.02656	0.0	B	0.01281	0.0	T	0.59440	-0.7454	9	0.10902	T	0.67	.	11.4013	0.49873	0.0:0.3619:0.0:0.6381	.	434	P12883	MYH7_HUMAN	K	434	ENSP00000347507:R434K	ENSP00000347507:R434K	R	-	2	0	MYH7	22968110	0.983000	0.35010	0.980000	0.43619	0.520000	0.34377	0.109000	0.15417	-0.725000	0.04901	-1.662000	0.00750	AGG		0.542	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		4	172	0	0	0	1	0	4	172				
EPHB6	2051	broad.mit.edu	37	7	142561867	142561867	+	Silent	SNP	G	G	A	rs370537878		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr7:142561867G>A	ENST00000392957.2	+	7	1096	c.309G>A	c.(307-309)gcG>gcA	p.A103A	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.A103A	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	103	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCCAGAGGGCGCACATTCGAC	0.647																																						ENST00000392957.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87						c.(307-309)gcG>gcA		EPH receptor B6		G		1,4405	2.1+/-5.4	0,1,2202	85.0	96.0	92.0		309	-11.2	0.0	7		92	0,8600		0,0,4300	no	coding-synonymous	EPHB6	NM_004445.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		103/1022	142561867	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:142561867G>A	D83492	CCDS5873.2, CCDS75672.1	7q33-q35	2013-02-11	2004-10-28		ENSG00000106123	ENSG00000106123		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3396	protein-coding gene	gene with protein product		602757	"""EphB6"""				Standard	XM_006715881		Approved	HEP	uc011kst.2	O15197	OTTHUMG00000155707	ENST00000392957.2:c.309G>A	7.37:g.142561867G>A						EPHB6_ENST00000442129.1_Silent_p.A103A|EPHB6_ENST00000411471.2_Intron	p.A103A	NM_004445.3	NP_004436.2	O15197	EPHB6_HUMAN			7	1096	+	Melanoma(164;0.059)		103					A4D2I7|A8CDT5|D3DXD3|Q2TB23|Q2TB24	Silent	SNP	ENST00000392957.2	37	c.309G>A	CCDS5873.2																																																																																				0.647	EPHB6-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341329.1			5	307	0	0	0	1	0	5	307				
SLC12A4	6560	broad.mit.edu	37	16	67986272	67986272	+	Silent	SNP	C	C	T	rs372226074		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr16:67986272C>T	ENST00000316341.3	-	7	872	c.732G>A	c.(730-732)tcG>tcA	p.S244S	SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000422611.2_Silent_p.S246S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000576616.1_Silent_p.S244S	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	244					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	AAGTGGCATTCGACGTGTCAT	0.453																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(736-738)tcG>tcA		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)	C	,,,,	1,4395	2.1+/-5.4	0,1,2197	185.0	171.0	176.0		732,738,714,639,732	-8.1	0.1	16		176	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	,,,,	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,,,,	244/1080,246/1088,238/1080,213/1055,244/1086	67986272	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67986272C>T		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.732G>A	16.37:g.67986272C>T						SLC12A4_ENST00000572037.1_Silent_p.S196S|SLC12A4_ENST00000537830.2_Silent_p.S238S|SLC12A4_ENST00000576616.1_Silent_p.S244S|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000338335.3_Silent_p.S244S|SLC12A4_ENST00000541864.2_Silent_p.S213S|SLC12A4_ENST00000316341.3_Silent_p.S244S	p.S246S	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	6	777	-		Ovarian(137;0.192)	244					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	c.738G>A	CCDS10855.1																																																																																				0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		48	85	0	0	0	1	0	48	85				
CKM	1158	broad.mit.edu	37	19	45810133	45810133	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:45810133G>A	ENST00000221476.3	-	8	1195	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	341	Phosphagen kinase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00843}.				cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GAGCCCAGCCGATCAGCGTTG	0.577																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(1021-1023)Cgg>Tgg		creatine kinase, muscle	Creatine(DB00148)						169.0	140.0	150.0					19																	45810133		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810133G>A	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.1021C>T	19.37:g.45810133G>A	ENSP00000221476:p.Arg341Trp						p.R341W	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	8	1195	-		Ovarian(192;0.0336)|all_neural(266;0.112)	341			Phosphagen kinase C-terminal.		Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.1021C>T	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.335283	0.81801	.	.	ENSG00000104879	ENST00000221476	T	0.16073	2.37	5.49	4.45	0.53987	ATP:guanido phosphotransferase, catalytic domain (2);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.054887	0.64402	D	0.000001	T	0.59445	0.2194	H	0.99130	4.44	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.74668	-0.3588	10	0.87932	D	0	-39.4344	11.5244	0.50571	0.0:0.0:0.6757:0.3242	.	341	P06732	KCRM_HUMAN	W	341	ENSP00000221476:R341W	ENSP00000221476:R341W	R	-	1	2	CKM	50501973	1.000000	0.71417	0.958000	0.39756	0.818000	0.46254	4.449000	0.60034	1.321000	0.45227	0.561000	0.74099	CGG		0.577	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			4	293	0	0	0	1	0	4	293				
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T	rs184555335	byFrequency	TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413													.|||	2313	0.461861	0.4849	0.4121	5008	,	,		9054	0.4554		0.4632	False		,,,				2504	0.4714					ENST00000414190.2																			0																																																			0							g.chr15:85053142C>T																													15.37:g.85053142C>T								NR_003246.2						0	310	-									RNA	SNP	ENST00000414190.2	37																																																																																						0.413	GOLGA6L5-003	KNOWN	mRNA_end_NF|basic	processed_transcript	pseudogene	OTTHUMT00000418579.1			10	9	0	0	0	1	0	10	9				
CAPN6	827	broad.mit.edu	37	X	110494282	110494282	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chrX:110494282G>A	ENST00000324068.1	-	8	1188	c.1021C>T	c.(1021-1023)Cgc>Tgc	p.R341C	CAPN6_ENST00000541758.1_Missense_Mutation_p.R86C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	341	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						TTCACATTGCGGCAGACATTC	0.463																																						ENST00000324068.1																			0				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						c.(1021-1023)Cgc>Tgc		calpain 6							320.0	287.0	298.0					X																	110494282		2203	4300	6503	SO:0001583	missense	827				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	g.chrX:110494282G>A	AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1021C>T	X.37:g.110494282G>A	ENSP00000317214:p.Arg341Cys					CAPN6_ENST00000541758.1_Missense_Mutation_p.R86C	p.R341C	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN			8	1188	-			341			Calpain catalytic.		D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	c.1021C>T	CCDS14555.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037613	0.75617	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;T	0.44482	0.92;2.3	5.95	5.95	0.96441	Peptidase C2, calpain, catalytic domain (3);	0.250879	0.37809	N	0.001921	T	0.65606	0.2707	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.66027	-0.6025	10	0.45353	T	0.12	.	15.6852	0.77405	0.0:0.0:0.863:0.137	.	341	Q9Y6Q1	CAN6_HUMAN	C	341;86	ENSP00000317214:R341C;ENSP00000441736:R86C	ENSP00000317214:R341C	R	-	1	0	CAPN6	110380938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.271000	0.72569	2.504000	0.84457	0.600000	0.82982	CGC		0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			9	738	0	0	0	1	0	9	738				
FITM2	128486	broad.mit.edu	37	20	42935521	42935521	+	Missense_Mutation	SNP	G	G	A	rs138125328		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:42935521G>A	ENST00000396825.3	-	2	553	c.533C>T	c.(532-534)aCg>aTg	p.T178M		NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN	fat storage-inducing transmembrane protein 2	178					cellular triglyceride homeostasis (GO:0035356)|cytoskeleton organization (GO:0007010)|lipid particle organization (GO:0034389)|positive regulation of sequestering of triglyceride (GO:0010890)|regulation of cell morphogenesis (GO:0022604)|regulation of triglyceride biosynthetic process (GO:0010866)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)				endometrium(2)|lung(2)|skin(2)	6						GCTTCGGTCCGTCTTCACCTC	0.542																																						ENST00000396825.3																			0				endometrium(2)|lung(2)|skin(2)	6						c.(532-534)aCg>aTg		fat storage-inducing transmembrane protein 2		G	MET/THR	3,4403	6.2+/-15.9	0,3,2200	100.0	78.0	86.0		533	2.1	1.0	20	dbSNP_134	86	0,8600		0,0,4300	no	missense	FITM2	NM_001080472.1	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign	178/263	42935521	3,13003	2203	4300	6503	SO:0001583	missense	128486				cellular triglyceride homeostasis|lipid particle organization|positive regulation of sequestering of triglyceride|regulation of triglyceride biosynthetic process	integral to endoplasmic reticulum membrane		g.chr20:42935521G>A	BC029662	CCDS33473.1	20q13.12	2009-04-29	2009-04-29	2009-04-29	ENSG00000197296	ENSG00000197296			16135	protein-coding gene	gene with protein product	"""fat inducing transcript 2"""	612029	"""chromosome 20 open reading frame 142"""	C20orf142		18160536	Standard	NM_001080472		Approved	dJ881L22.2, FIT2	uc002xlr.1	Q8N6M3	OTTHUMG00000032522	ENST00000396825.3:c.533C>T	20.37:g.42935521G>A	ENSP00000380037:p.Thr178Met						p.T178M	NM_001080472.1	NP_001073941.1	Q8N6M3	FITM2_HUMAN			2	553	-			178					A1L492|B9EGQ4|Q5TE59|Q9H3Y1	Missense_Mutation	SNP	ENST00000396825.3	37	c.533C>T	CCDS33473.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.324080	0.24080	6.81E-4	0.0	ENSG00000197296	ENST00000396825	.	.	.	5.57	2.07	0.26955	.	0.448802	0.25872	N	0.027753	T	0.27765	0.0683	N	0.17474	0.49	0.31861	N	0.620962	B	0.16166	0.016	B	0.11329	0.006	T	0.19451	-1.0305	9	0.34782	T	0.22	.	8.2401	0.31654	0.1967:0.0:0.6726:0.1308	.	178	Q8N6M3	FITM2_HUMAN	M	178	.	ENSP00000380037:T178M	T	-	2	0	FITM2	42368935	0.880000	0.30214	0.993000	0.49108	0.797000	0.45037	2.159000	0.42339	0.696000	0.31696	0.563000	0.77884	ACG		0.542	FITM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079342.2	XM_371399		3	78	0	0	0	1	0	3	78				
ZNF799	90576	broad.mit.edu	37	19	12501446	12501446	+	Missense_Mutation	SNP	T	T	C	rs201078380		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:12501446T>C	ENST00000430385.3	-	4	1966	c.1766A>G	c.(1765-1767)gAa>gGa	p.E589G	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.E557G	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	589					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(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCCTTACATTCATACGGGTT	0.413													T|||	1	0.000199681	0.0	0.0	5008	,	,		22235	0.0		0.0	False		,,,				2504	0.001					ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1669-1671)gAa>gGa		zinc finger protein 799							71.0	74.0	73.0					19																	12501446		2202	4278	6480	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501446T>C	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1766A>G	19.37:g.12501446T>C	ENSP00000411084:p.Glu589Gly					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E589G	p.E557G			Q96GE5	ZN799_HUMAN			4	2419	-			589						Missense_Mutation	SNP	ENST00000430385.3	37	c.1670A>G	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	T	10.35	1.326777	0.24080	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.22743	1.94;1.94	1.27	1.27	0.21489	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26629	0.0651	L	0.45228	1.405	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.11446	-1.0587	9	0.49607	T	0.09	.	5.3684	0.16127	0.0:0.0:0.2914:0.7086	.	589	Q96GE5	ZN799_HUMAN	G	557;589	ENSP00000415278:E557G;ENSP00000411084:E589G	ENSP00000415278:E557G	E	-	2	0	ZNF799	12362446	0.000000	0.05858	0.018000	0.16275	0.046000	0.14306	-0.655000	0.05348	0.842000	0.35045	0.347000	0.21830	GAA		0.413	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		4	96	0	0	0	1	0	4	96				
SLC1A6	6511	broad.mit.edu	37	19	15073100	15073100	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr19:15073100C>T	ENST00000221742.3	-	5	656	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	SLC1A6_ENST00000430939.2_Missense_Mutation_p.G153R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000598504.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G217R	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	217					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						GGCTCAGACCCGTTCTCTGTC	0.552																																						ENST00000598504.1																			0				breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						c.(649-651)Ggg>Agg		solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	L-Glutamic Acid(DB00142)						125.0	116.0	119.0					19																	15073100		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15073100C>T		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.649G>A	19.37:g.15073100C>T	ENSP00000221742:p.Gly217Arg					SLC1A6_ENST00000430939.2_Missense_Mutation_p.G153R|SLC1A6_ENST00000221742.3_Missense_Mutation_p.G217R|SLC1A6_ENST00000600144.1_Missense_Mutation_p.G217R|SLC1A6_ENST00000544886.2_Missense_Mutation_p.G217R	p.G217R	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN			8	2008	-			217					Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.649G>A	CCDS12321.1	.	.	.	.	.	.	.	.	.	.	c	7.204	0.594043	0.13875	.	.	ENSG00000105143	ENST00000430939;ENST00000221742;ENST00000544886	T;T;T	0.70869	-0.52;0.56;1.3	4.42	3.33	0.38152	.	0.365309	0.27797	N	0.017813	T	0.52533	0.1740	L	0.38175	1.15	0.20074	N	0.999932	B;B;B	0.15930	0.011;0.007;0.015	B;B;B	0.13407	0.008;0.004;0.009	T	0.17048	-1.0382	10	0.16420	T	0.52	-19.7986	5.2147	0.15336	0.0:0.7687:0.0:0.2313	.	153;217;217	E7EV13;Q8N753;P48664	.;.;EAA4_HUMAN	R	153;217;217	ENSP00000409386:G153R;ENSP00000221742:G217R;ENSP00000446175:G217R	ENSP00000221742:G217R	G	-	1	0	SLC1A6	14934100	0.126000	0.22350	0.765000	0.31456	0.648000	0.38561	0.921000	0.28718	2.310000	0.77875	0.454000	0.30748	GGG		0.552	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071		55	103	0	0	0	1	0	55	103				
CASKIN2	57513	broad.mit.edu	37	17	73498980	73498980	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr17:73498980G>A	ENST00000321617.3	-	18	2761	c.2175C>T	c.(2173-2175)agC>agT	p.S725S	CASKIN2_ENST00000433559.2_Silent_p.S643S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	725	Pro-rich.					cytoplasm (GO:0005737)				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGGGGGGGGCTGGGATCTC	0.647																																						ENST00000321617.3																			0				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(2173-2175)agC>agT		CASK interacting protein 2							19.0	21.0	20.0					17																	73498980		2164	4241	6405	SO:0001819	synonymous_variant	57513					cytoplasm		g.chr17:73498980G>A	AB032965	CCDS11723.1, CCDS45775.1	17q25.1	2014-09-04			ENSG00000177303	ENSG00000177303		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	18200	protein-coding gene	gene with protein product		612185				12040031	Standard	NM_020753		Approved	KIAA1139, FLJ21609, ANKS5B	uc002joc.4	Q8WXE0	OTTHUMG00000179683	ENST00000321617.3:c.2175C>T	17.37:g.73498980G>A						CASKIN2_ENST00000433559.2_Silent_p.S643S	p.S725S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		18	2761	-	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		725			Pro-rich.		B4DTT3|B7Z9H1|Q7LG69|Q9ULT1	Silent	SNP	ENST00000321617.3	37	c.2175C>T	CCDS11723.1																																																																																				0.647	CASKIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447609.1	NM_020753		3	57	0	0	0	1	0	3	57				
NCL	4691	broad.mit.edu	37	2	232326634	232326634	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:232326634G>A	ENST00000322723.4	-	3	470	c.230C>T	c.(229-231)cCa>cTa	p.P77L	SNORD82_ENST00000365530.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	77	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTCTTGGCTGGTGTGGCAAC	0.512																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(229-231)cCa>cTa		nucleolin							186.0	181.0	183.0					2																	232326634		2203	4300	6503	SO:0001583	missense	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232326634G>A		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.230C>T	2.37:g.232326634G>A	ENSP00000318195:p.Pro77Leu						p.P77L	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	3	470	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	77			8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Missense_Mutation	SNP	ENST00000322723.4	37	c.230C>T	CCDS33397.1	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846316	0.71603	.	.	ENSG00000115053	ENST00000322723;ENST00000322732;ENST00000454824;ENST00000417652;ENST00000453992;ENST00000436894	T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47	5.37	5.37	0.77165	.	0.115688	0.64402	D	0.000014	T	0.40595	0.1123	L	0.55990	1.75	0.80722	D	1	D	0.55605	0.972	P	0.48304	0.573	T	0.35450	-0.9788	10	0.87932	D	0	-15.3601	18.1506	0.89672	0.0:0.0:1.0:0.0	.	77	P19338	NUCL_HUMAN	L	77;77;61;61;61;61	ENSP00000318195:P77L;ENSP00000401620:P61L;ENSP00000392747:P61L;ENSP00000413775:P61L;ENSP00000401322:P61L	ENSP00000318195:P77L	P	-	2	0	NCL	232034878	1.000000	0.71417	0.950000	0.38849	0.833000	0.47200	7.237000	0.78164	2.528000	0.85240	0.650000	0.86243	CCA		0.512	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		4	190	0	0	0	1	0	4	190				
PPRC1	23082	broad.mit.edu	37	10	103898733	103898733	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr10:103898733G>A	ENST00000278070.2	+	4	626	c.587G>A	c.(586-588)aGt>aAt	p.S196N	PPRC1_ENST00000413464.2_Missense_Mutation_p.S196N|PPRC1_ENST00000370012.1_5'Flank	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	196					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGTAGAGGGAGTGGGGTAAGC	0.557																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(586-588)aGt>aAt		peroxisome proliferator-activated receptor gamma, coactivator-related 1							57.0	63.0	61.0					10																	103898733		2203	4300	6503	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103898733G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.587G>A	10.37:g.103898733G>A	ENSP00000278070:p.Ser196Asn					PPRC1_ENST00000413464.2_Missense_Mutation_p.S196N	p.S196N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	4	626	+		Colorectal(252;0.122)	196					Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.587G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119789	0.37436	.	.	ENSG00000148840	ENST00000278070;ENST00000413464	T;T	0.59364	0.27;0.27	4.5	0.519	0.17035	.	0.449943	0.22173	N	0.063604	T	0.33381	0.0861	N	0.19112	0.55	0.25122	N	0.990637	B;B;B	0.11235	0.003;0.004;0.001	B;B;B	0.11329	0.003;0.006;0.004	T	0.17198	-1.0377	10	0.59425	D	0.04	.	1.0618	0.01602	0.2692:0.1543:0.4179:0.1585	.	196;76;196	E7EVG6;Q5VV67-2;Q5VV67	.;.;PPRC1_HUMAN	N	196	ENSP00000278070:S196N;ENSP00000399743:S196N	ENSP00000278070:S196N	S	+	2	0	PPRC1	103888723	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	0.681000	0.25320	0.011000	0.14865	0.561000	0.74099	AGT		0.557	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		3	86	0	0	0	1	0	3	86				
ZCCHC10	54819	broad.mit.edu	37	5	132334494	132334494	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:132334494G>A	ENST00000509437.1	-	5	367	c.360C>T	c.(358-360)gcC>gcT	p.A120A	ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000324170.3_Silent_p.A98A|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_Silent_p.A84A|ZCCHC10_ENST00000355372.2_Silent_p.A114A			Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	120	Ser-rich.						nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAATCACTGGCAGAACTGT	0.438																																						ENST00000324170.3																			0				skin(1)	1						c.(292-294)gcC>gcT		zinc finger, CCHC domain containing 10							143.0	133.0	136.0					5																	132334494		2203	4300	6503	SO:0001819	synonymous_variant	54819						nucleic acid binding|zinc ion binding	g.chr5:132334494G>A	BC005211	CCDS4165.1, CCDS75300.1, CCDS75301.1, CCDS75302.1	5q31.1	2008-05-02			ENSG00000155329	ENSG00000155329		"""Zinc fingers, CCHC domain containing"""	25954	protein-coding gene	gene with protein product						12477932	Standard	XM_005272024		Approved	FLJ20094	uc003kyg.3	Q8TBK6	OTTHUMG00000129013	ENST00000509437.1:c.360C>T	5.37:g.132334494G>A						ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000509437.1_Silent_p.A120A|ZCCHC10_ENST00000355372.2_Silent_p.A114A|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000513848.1_Silent_p.A84A	p.A98A	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		4	360	-			120					Q9NXR4	Silent	SNP	ENST00000509437.1	37	c.294C>T																																																																																					0.438	ZCCHC10-004	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000370163.1	NM_017665		48	69	0	0	0	1	0	48	69				
LOC728323	728323	broad.mit.edu	37	2	243061183	243061183	+	RNA	SNP	C	C	T	rs188068415		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:243061183C>T	ENST00000456398.1	+	0	531																											ATTCAAGATACCCGAAGGTTC	0.358																																						ENST00000456398.1																			0																																																			0							g.chr2:243061183C>T																													2.37:g.243061183C>T														0	531	+									RNA	SNP	ENST00000456398.1	37																																																																																						0.358	AC093642.5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000322444.2			6	135	0	0	0	1	0	6	135				
C9orf69	90120	broad.mit.edu	37	9	139008660	139008660	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr9:139008660G>A	ENST00000418388.1	-	2	589	c.87C>T	c.(85-87)cgC>cgT	p.R29R	C9orf69_ENST00000561457.1_Missense_Mutation_p.A54V			H0YL14	CI069_HUMAN	chromosome 9 open reading frame 69	29					cell cycle (GO:0007049)|positive regulation of cell proliferation (GO:0008284)|positive regulation of viral process (GO:0048524)|viral process (GO:0016032)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	GTP binding (GO:0005525)			endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GGTGGGAGGCGCGCACGGGCC	0.667																																						ENST00000561457.1																			0				endometrium(1)	1						c.(160-162)gCg>gTg		chromosome 9 open reading frame 69							35.0	43.0	40.0					9																	139008660		1966	4128	6094	SO:0001819	synonymous_variant	90120							g.chr9:139008660G>A		CCDS59155.1	9q34.3	2012-11-26	2012-07-05	2012-07-05	ENSG00000238227	ENSG00000238227			31009	protein-coding gene	gene with protein product						21667337	Standard	NM_152833		Approved	bA83N9.1	uc004cgx.5	H0YL14	OTTHUMG00000020922	ENST00000418388.1:c.87C>T	9.37:g.139008660G>A						C9orf69_ENST00000418388.1_Silent_p.R29R	p.A54V	NM_152833.2	NP_690046.3				OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)	2	611	-		Myeloproliferative disorder(178;0.0511)							Missense_Mutation	SNP	ENST00000418388.1	37	c.161C>T	CCDS59155.1																																																																																				0.667	C9orf69-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055043.3	NM_152833		12	20	0	0	0	1	0	12	20				
PRAMEF11	440560	broad.mit.edu	37	1	12887612	12887612	+	Missense_Mutation	SNP	T	T	C	rs60558629	byFrequency	TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr1:12887612T>C	ENST00000535591.1	-	3	440	c.245A>G	c.(244-246)cAt>cGt	p.H82R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	82					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.H82R(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GAAGCACCCATGGGCCATAGC	0.488													.|||	6	0.00119808	0.0015	0.0014	5008	,	,		19834	0.001		0.002	False		,,,				2504	0.0					ENST00000535591.1																			1	Substitution - Missense(1)	p.H82R(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(244-246)cAt>cGt		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887612T>C	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.245A>G	1.37:g.12887612T>C	ENSP00000439551:p.His82Arg						p.H82R	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	440	-			82						Missense_Mutation	SNP	ENST00000535591.1	37	c.245A>G	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	0.046	-1.266700	0.01433	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.14766	2.48;2.48	1.48	-2.96	0.05547	.	7.429810	0.00166	N	0.000002	T	0.07818	0.0196	N	0.17082	0.46	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.22034	-1.0228	10	0.24483	T	0.36	.	3.1667	0.06538	0.0:0.2637:0.2217:0.5146	rs60558629	82	O60813	PRA11_HUMAN	R	82;123;82	ENSP00000439551:H82R;ENSP00000391839:H82R	ENSP00000328783:H123R	H	-	2	0	PRAMEF11	12810199	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.061000	0.11693	-1.287000	0.02381	-0.610000	0.04054	CAT		0.488	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		4	314	0	0	0	1	0	4	314				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000475957.1_5'UTR	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	23	0	0	0	1	0	4	23				
ELL2	22936	broad.mit.edu	37	5	95297410	95297410	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr5:95297410T>C	ENST00000237853.4	-	1	365	c.16A>G	c.(16-18)Aca>Gca	p.T6A	CTD-2337A12.1_ENST00000511775.1_RNA|ELL2_ENST00000431061.2_Missense_Mutation_p.T6A|ELL2_ENST00000506628.1_5'UTR|CTD-2337A12.1_ENST00000502645.2_RNA	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	6					regulation of transcription, DNA-templated (GO:0006355)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|transcription elongation from RNA polymerase II promoter (GO:0006368)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		AGGCCCCCTGTCCCCCCCGCC	0.711																																						ENST00000237853.4																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24						c.(16-18)Aca>Gca		elongation factor, RNA polymerase II, 2							20.0	18.0	19.0					5																	95297410		2196	4294	6490	SO:0001583	missense	22936				regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex		g.chr5:95297410T>C	U88629	CCDS4080.1	5q15	2010-11-29			ENSG00000118985	ENSG00000118985			17064	protein-coding gene	gene with protein product		601874				9108030	Standard	NM_012081		Approved		uc003klr.4	O00472	OTTHUMG00000122085	ENST00000237853.4:c.16A>G	5.37:g.95297410T>C	ENSP00000237853:p.Thr6Ala					ELL2_ENST00000506628.1_5'UTR|ELL2_ENST00000431061.2_Missense_Mutation_p.T6A	p.T6A	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN		all cancers(79;2.16e-15)	1	365	-		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)	6					B4DNK7	Missense_Mutation	SNP	ENST00000237853.4	37	c.16A>G	CCDS4080.1	.	.	.	.	.	.	.	.	.	.	T	6.224	0.409420	0.11812	.	.	ENSG00000118985	ENST00000237853;ENST00000431061;ENST00000513343	T;T	0.27720	2.06;1.65	4.58	1.76	0.24704	.	2.221920	0.01975	N	0.044397	T	0.14356	0.0347	N	0.08118	0	0.19775	N	0.999953	B	0.02656	0.0	B	0.01281	0.0	T	0.25082	-1.0142	10	0.02654	T	1	.	4.7869	0.13229	0.1519:0.5934:0.0:0.2547	.	6	O00472	ELL2_HUMAN	A	6	ENSP00000237853:T6A;ENSP00000423915:T6A	ENSP00000237853:T6A	T	-	1	0	ELL2	95323166	0.998000	0.40836	0.995000	0.50966	0.278000	0.26855	0.417000	0.21214	0.153000	0.19213	-1.070000	0.02257	ACA		0.711	ELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242846.1	NM_012081		7	46	0	0	0	1	0	7	46				
TSPAN4	7106	broad.mit.edu	37	11	864455	864455	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr11:864455C>G	ENST00000397404.1	+	5	533	c.274C>G	c.(274-276)Ctg>Gtg	p.L92V	TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	92					protein complex assembly (GO:0006461)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	antigen binding (GO:0003823)|integrin binding (GO:0005178)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCTGCTGCTGCTGGTGTTCCT	0.672																																						ENST00000397404.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3						c.(274-276)Ctg>Gtg		tetraspanin 4							98.0	95.0	96.0					11																	864455		2203	4299	6502	SO:0001583	missense	0				protein complex assembly	integral to plasma membrane		g.chr11:864455C>G	AF022813	CCDS7721.1, CCDS41589.1	11p15.5	2013-02-14	2005-03-21	2005-03-21	ENSG00000214063	ENSG00000214063		"""Tetraspanins"""	11859	protein-coding gene	gene with protein product		602644	"""transmembrane 4 superfamily member 7"""	TM4SF7		9360996	Standard	XM_005253102		Approved	NAG-2, TSPAN-4, TETRASPAN	uc001lsf.1	O14817	OTTHUMG00000133305	ENST00000397404.1:c.274C>G	11.37:g.864455C>G	ENSP00000380553:p.Leu92Val					TSPAN4_ENST00000397411.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.L92V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.L92V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.L92V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.L28V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.L111V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.L92V	p.L92V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	5	533	+		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	92					Q6IAP6	Missense_Mutation	SNP	ENST00000397404.1	37	c.274C>G	CCDS7721.1	.	.	.	.	.	.	.	.	.	.	C	7.339	0.620549	0.14193	.	.	ENSG00000214063	ENST00000397397;ENST00000397411;ENST00000397396;ENST00000397408;ENST00000525334;ENST00000397406;ENST00000409543;ENST00000525201;ENST00000397404;ENST00000532375;ENST00000346501;ENST00000409531;ENST00000527644	T;T;T;T;T;T;T;T;T;T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36;-1.36	3.04	1.98	0.26296	.	0.388801	0.23310	N	0.049564	T	0.54431	0.1858	N	0.04508	-0.205	0.32506	N	0.538191	B	0.12013	0.005	B	0.15870	0.014	T	0.53493	-0.8431	10	0.17369	T	0.5	.	6.829	0.23898	0.4405:0.5595:0.0:0.0	.	92	O14817	TSN4_HUMAN	V	92;92;28;92;28;92;92;28;92;28;92;111;92	ENSP00000380552:L92V;ENSP00000380558:L92V;ENSP00000380551:L28V;ENSP00000380555:L92V;ENSP00000433980:L28V;ENSP00000380554:L92V;ENSP00000386513:L92V;ENSP00000431943:L28V;ENSP00000380553:L92V;ENSP00000434818:L28V;ENSP00000324304:L92V;ENSP00000386899:L111V;ENSP00000436260:L92V	ENSP00000324304:L92V	L	+	1	2	TSPAN4	854455	0.162000	0.22906	1.000000	0.80357	0.819000	0.46315	0.131000	0.15870	1.557000	0.49525	0.313000	0.20887	CTG		0.672	TSPAN4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257102.2			3	198	0	0	0	1	0	3	198				
ZC3H11A	9877	broad.mit.edu	37	1	203821424	203821424	+	Missense_Mutation	SNP	T	T	C			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr1:203821424T>C	ENST00000545588.1	+	17	6157	c.2330T>C	c.(2329-2331)aTa>aCa	p.I777T	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	777					poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAGAAACTAATATGGGAGATT	0.473																																						ENST00000545588.1																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2329-2331)aTa>aCa		zinc finger CCCH-type containing 11A							55.0	56.0	56.0					1																	203821424		2203	4300	6503	SO:0001583	missense	9877						nucleic acid binding|protein binding|zinc ion binding	g.chr1:203821424T>C		CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.2330T>C	1.37:g.203821424T>C	ENSP00000438527:p.Ile777Thr					ZC3H11A_ENST00000367210.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.I777T|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.I777T|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.I777T	p.I777T	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		17	6157	+	all_cancers(21;0.0904)|all_epithelial(62;0.234)		777					Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	Missense_Mutation	SNP	ENST00000545588.1	37	c.2330T>C	CCDS30978.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.650267	0.29336	.	.	ENSG00000058673	ENST00000367214;ENST00000537080;ENST00000367212;ENST00000332127;ENST00000545588;ENST00000367210	T;T;T;T;T	0.60040	0.22;0.22;0.22;0.22;0.22	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	M	0.77103	2.36	0.50467	D	0.999873	B	0.18461	0.028	B	0.24269	0.052	T	0.60454	-0.7260	10	0.46703	T	0.11	-25.6355	14.9374	0.70967	0.0:0.0:0.0:1.0	.	777	O75152	ZC11A_HUMAN	T	777;723;777;777;777;777	ENSP00000356183:I777T;ENSP00000356181:I777T;ENSP00000333253:I777T;ENSP00000438527:I777T;ENSP00000356179:I777T	ENSP00000333253:I777T	I	+	2	0	ZC3H11A	202088047	1.000000	0.71417	1.000000	0.80357	0.753000	0.42808	6.379000	0.73154	2.171000	0.68590	0.528000	0.53228	ATA		0.473	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087471.3	NM_014827		5	77	0	0	0	1	0	5	77				
AMHR2	269	broad.mit.edu	37	12	53819001	53819001	+	Silent	SNP	G	G	C			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr12:53819001G>C	ENST00000257863.4	+	4	557	c.477G>C	c.(475-477)ctG>ctC	p.L159L	AMHR2_ENST00000550311.1_Silent_p.L159L|AMHR2_ENST00000379791.3_Silent_p.L159L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	159					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TCCTCCTCCTGCTGCTGCTGG	0.587																																						ENST00000257863.4																			0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34						c.(475-477)ctG>ctC		anti-Mullerian hormone receptor, type II	Adenosine triphosphate(DB00171)						183.0	141.0	155.0					12																	53819001		2203	4300	6503	SO:0001819	synonymous_variant	269				Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53819001G>C	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.477G>C	12.37:g.53819001G>C						AMHR2_ENST00000550311.1_Silent_p.L159L|AMHR2_ENST00000379791.3_Silent_p.L159L	p.L159L	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN			4	557	+			159					A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	ENST00000257863.4	37	c.477G>C	CCDS8858.1																																																																																				0.587	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		3	169	0	0	0	1	0	3	169				
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988	byFrequency	TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483																																						ENST00000535591.1																			1	Substitution - Missense(1)	p.C84S(1)	endometrium(1)	NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						c.(250-252)tGc>tCc		PRAME family member 11																																				SO:0001583	missense	440560							g.chr1:12887606C>G	AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.251G>C	1.37:g.12887606C>G	ENSP00000439551:p.Cys84Ser						p.C84S	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN			3	446	-			84						Missense_Mutation	SNP	ENST00000535591.1	37	c.251G>C	CCDS53268.1	.	.	.	.	.	.	.	.	.	.	.	8.676	0.903882	0.17760	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.18016	2.24;2.24	1.48	-0.635	0.11512	.	1.371720	0.04624	N	0.402516	T	0.15825	0.0381	L	0.54908	1.71	0.09310	N	1	P	0.44816	0.844	B	0.41764	0.366	T	0.23904	-1.0175	10	0.16896	T	0.51	.	3.692	0.08350	0.2835:0.4381:0.2784:0.0	rs58074988	84	O60813	PRA11_HUMAN	S	84;125;84	ENSP00000439551:C84S;ENSP00000391839:C84S	ENSP00000328783:C125S	C	-	2	0	PRAMEF11	12810193	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.358000	0.07641	-0.176000	0.10707	-1.934000	0.00508	TGC		0.483	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		XM_496341		3	302	0	0	0	1	0	3	302				
LRRFIP1	9208	broad.mit.edu	37	2	238667405	238667405	+	Intron	SNP	G	G	T			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:238667405G>T	ENST00000392000.4	+	10	864				LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.V420L	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1						innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		CTTTGATTCCGTAAGGAGTGA	0.383																																						ENST00000308482.9																			0				NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(1258-1260)Gta>Tta		leucine rich repeat (in FLII) interacting protein 1							147.0	138.0	141.0					2																	238667405		1568	3582	5150	SO:0001627	intron_variant	9208				negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding	g.chr2:238667405G>T	AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.748-1302G>T	2.37:g.238667405G>T						LRRFIP1_ENST00000392000.4_Intron|LRRFIP1_ENST00000289175.6_Intron|LRRFIP1_ENST00000244815.5_Intron	p.V420L	NM_001137550.1	NP_001131022.1	Q32MZ4	LRRF1_HUMAN		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)	18	1327	+		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	288					E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	c.1258G>T	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	7.382	0.629073	0.14257	.	.	ENSG00000124831	ENST00000308482;ENST00000391999	T	0.26223	1.75	5.73	-6.45	0.01914	.	.	.	.	.	T	0.10294	0.0252	N	0.11313	0.125	0.80722	D	1	B	0.24675	0.109	B	0.30316	0.114	T	0.39396	-0.9616	9	0.02654	T	1	.	12.504	0.55972	0.32:0.1056:0.5745:0.0	.	420	E9PGZ2	.	L	420;410	ENSP00000310109:V420L	ENSP00000310109:V420L	V	+	1	0	LRRFIP1	238332144	0.994000	0.37717	0.841000	0.33234	0.993000	0.82548	0.601000	0.24119	-1.121000	0.02949	-0.302000	0.09304	GTA		0.383	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735		48	66	1	0	8.43275e-48	1	8.66066e-48	48	66				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	31	0	0	0	1	0	4	31				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		4	50	0	0	0	1	0	4	50				
RBM45	129831	broad.mit.edu	37	2	178988920	178988920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr2:178988920delA	ENST00000286070.5	+	8	1227	c.1135delA	c.(1135-1137)aaafs	p.K381fs		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	383					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A382fs*7(2)|p.?(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			TCCATCATGCAAAAAAAAAGC	0.353																																						ENST00000286070.5																			3	Deletion - Frameshift(2)|Unknown(1)	p.A382fs*7(2)|p.?(1)	large_intestine(2)|skin(1)	endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1135-1137)aafs		RNA binding motif protein 45				3,107,4156		0,0,3,40,27,2063	69.0	75.0	73.0			4.7	1.0	2		75	6,163,8085		0,0,6,55,53,4013	no	codingComplex	RBM45	NM_152945.2		0,0,9,95,80,6076	A1A1,A1A2,A1R,A2A2,A2R,RR		2.0475,2.5785,2.2284			178988920	9,270,12241	2203	4300	6503	SO:0001589	frameshift_variant	129831				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr2:178988920delA	AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.1135delA	2.37:g.178988920delA	ENSP00000286070:p.Lys381fs						p.K381fs	NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)		8	1227	+			383					Q6NYL0|Q8NFC9	Frame_Shift_Del	DEL	ENST00000286070.5	37	c.1135delA	CCDS33335.1																																																																																				0.353	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334375.2	NM_152945		8	109						8	109	---	---	---	---
CCDC39	339829	broad.mit.edu	37	3	180370001	180370001	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr3:180370001delC	ENST00000442201.2	-	8	1103	c.984delG	c.(982-984)ctgfs	p.L328fs	CCDC39_ENST00000273654.4_Frame_Shift_Del_p.L412fs	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	328					axonemal dynein complex assembly (GO:0070286)|cilium-dependent cell motility (GO:0060285)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TATTTTTCCTCAGAGCTTCTA	0.274																																						ENST00000273654.4																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45						c.(1234-1236)ctfs		coiled-coil domain containing 39							30.0	28.0	28.0					3																	180370001		1729	3892	5621	SO:0001589	frameshift_variant	339829				axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton		g.chr3:180370001delC	BC047103	CCDS46964.1	3q26.33	2012-07-27			ENSG00000145075	ENSG00000145075			25244	protein-coding gene	gene with protein product		613798				21131972	Standard	NM_181426		Approved	DKFZp434A128, CILD14, FAP59	uc010hxe.3	Q9UFE4	OTTHUMG00000157857	ENST00000442201.2:c.984delG	3.37:g.180370001delC	ENSP00000405708:p.Leu328fs					CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L328fs	p.L412fs			Q9UFE4	CCD39_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)		14	1855	-	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		328					B4E2H1	Frame_Shift_Del	DEL	ENST00000442201.2	37	c.1236delG	CCDS46964.1																																																																																				0.274	CCDC39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349783.3	XM_291028		2	4						2	4	---	---	---	---
RGS12	6002	broad.mit.edu	37	4	3430399	3430399	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr4:3430399delA	ENST00000344733.5	+	16	4430	c.3526delA	c.(3526-3528)aaafs	p.K1178fs	RGS12_ENST00000336727.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000306648.7_Intron|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs|RGS12_ENST00000538395.1_Intron	NM_198229.2	NP_937872.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1178					positive regulation of GTPase activity (GO:0043547)|regulation of catalytic activity (GO:0050790)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|GTPase regulator activity (GO:0030695)|receptor signaling protein activity (GO:0005057)			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAGATTGGGAAAAAAAAATA	0.328																																						ENST00000336727.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(3526-3528)aafs		regulator of G-protein signaling 12							44.0	50.0	48.0					4																	3430399		2201	4300	6501	SO:0001589	frameshift_variant	6002					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	g.chr4:3430399delA	AF035152	CCDS3366.1, CCDS3367.1, CCDS3368.1	4p16.3	2008-02-05	2007-08-14		ENSG00000159788	ENSG00000159788		"""Regulators of G-protein signaling"""	9994	protein-coding gene	gene with protein product		602512	"""regulator of G-protein signalling 12"""			9651375	Standard	NM_198229		Approved		uc003ggw.3	O14924	OTTHUMG00000090277	ENST00000344733.5:c.3526delA	4.37:g.3430399delA	ENSP00000339381:p.Lys1178fs					RGS12_ENST00000306648.7_Intron|RGS12_ENST00000538395.1_Intron|RGS12_ENST00000382788.3_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000344733.5_Frame_Shift_Del_p.K1178fs|RGS12_ENST00000338806.4_Frame_Shift_Del_p.K530fs	p.K1178fs	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	16	4430	+			1178					B1AQ30|B1AQ31|B1AQ32|B7Z764|E7EMN9|O14922|O14923|O43510|O75338|Q147X0|Q8WX95	Frame_Shift_Del	DEL	ENST00000344733.5	37	c.3526delA	CCDS3366.1																																																																																				0.328	RGS12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000206602.1	NM_002926		7	96						7	96	---	---	---	---
ADH1C	126	broad.mit.edu	37	4	100261040	100261041	+	RNA	INS	-	-	A	rs3216150|rs373899105	byFrequency	TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr4:100261040_100261041insA	ENST00000515683.1	-	0	1316					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	AGTGCTTTCACAAAAAAAATCA	0.327													|||unknown(NO_COVERAGE)	1065	0.21266	0.0946	0.2709	5008	,	,		17244	0.0764		0.4026	False		,,,				2504	0.2761					ENST00000515683.1																			0													alcohol dehydrogenase 1C (class I), gamma polypeptide	Fomepizole(DB01213)|NADH(DB00157)																																					126				ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding	g.chr4:100261040_100261041insA	M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100261048_100261048dupA								NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	0	1316	-								Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	RNA	INS	ENST00000515683.1	37																																																																																						0.327	ADH1C-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000364877.2	NM_000669		2	4						2	4	---	---	---	---
ROBO3	64221	broad.mit.edu	37	11	124750448	124750453	+	In_Frame_Del	DEL	CGGAGT	CGGAGT	-	rs55725290|rs56085444|rs71859853	byFrequency	TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr11:124750448_124750453delCGGAGT	ENST00000397801.1	+	27	4285_4290	c.4093_4098delCGGAGT	c.(4093-4098)cggagtdel	p.RS1367del	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1367					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TGgccggagccggagtcggagtcaga	0.66														2107	0.420727	0.6664	0.2392	5008	,	,		17575	0.378		0.2883	False		,,,				2504	0.3978					ENST00000397801.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35						c.(4093-4098)del		roundabout, axon guidance receptor, homolog 3 (Drosophila)				2069,1609		709,651,479						2.4	1.0		dbSNP_130	17	1833,5925		332,1169,2378	no	coding	ROBO3	NM_022370.3		1041,1820,2857	A1A1,A1R,RR		23.6272,43.7466,34.1203				3902,7534				SO:0001651	inframe_deletion	64221				axon midline choice point recognition	integral to membrane	receptor activity	g.chr11:124750448_124750453delCGGAGT	AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.4093_4098delCGGAGT	11.37:g.124750454_124750459delCGGAGT	ENSP00000380903:p.Arg1367_Ser1368del					ROBO3_ENST00000543966.1_In_Frame_Del_p.RS130del|ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_In_Frame_Del_p.RS1345del	p.RS1367del	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)	27	4285_4290	+	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)	1367						In_Frame_Del	DEL	ENST00000397801.1	37	c.4093_4098delCGGAGT	CCDS44755.1																																																																																				0.660	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387091.1	XM_370663		4	2						4	2	---	---	---	---
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr14:99641544_99641546delCTC	ENST00000357195.3	-	4	1636_1638	c.1627_1629delGAG	c.(1627-1629)gagdel	p.E543del	BCL11B_ENST00000345514.2_In_Frame_Del_p.E472del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	NM_001282237.1|NM_138576.2	NP_001269166.1|NP_612808.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	543	Glu-rich.				alpha-beta T cell differentiation (GO:0046632)|epithelial cell morphogenesis (GO:0003382)|keratinocyte development (GO:0003334)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb axon guidance (GO:0071678)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive T cell selection (GO:0043368)|post-embryonic camera-type eye development (GO:0031077)|regulation of keratinocyte proliferation (GO:0010837)|regulation of lipid metabolic process (GO:0019216)|regulation of neuron differentiation (GO:0045664)|striatal medium spiny neuron differentiation (GO:0021773)|T cell differentiation in thymus (GO:0033077)|T cell receptor V(D)J recombination (GO:0033153)|thymus development (GO:0048538)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.7			T	TLX3	T-ALL																																	ENST00000345514.2				Dom	yes		14	14q32.1	64919	T	B-cell CLL/lymphoma 11B  (CTIP2)			L	TLX3		T-ALL		0				NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34						c.(1414-1416)del		B-cell CLL/lymphoma 11B (zinc finger protein)			,	259,3515		17,225,1645					,	1.8	1.0			6	544,6744		46,452,3146	no	coding,coding	BCL11B	NM_138576.2,NM_022898.1	,	63,677,4791	A1A1,A1R,RR		7.4643,6.8627,7.2591	,	,		803,10259				SO:0001651	inframe_deletion	64919					nucleus	zinc ion binding	g.chr14:99641544_99641546delCTC	AJ404614	CCDS9949.1, CCDS9950.1	14q32	2013-01-08			ENSG00000127152	ENSG00000127152		"""Zinc fingers, C2H2-type"""	13222	protein-coding gene	gene with protein product		606558		ZNF856B		11719382, 16950772	Standard	NM_138576		Approved	CTIP-2, CTIP2, hRIT1-alpha	uc001yga.3	Q9C0K0	OTTHUMG00000028967	ENST00000357195.3:c.1627_1629delGAG	14.37:g.99641553_99641555delCTC	ENSP00000349723:p.Glu543del					BCL11B_ENST00000357195.3_In_Frame_Del_p.E543del|BCL11B_ENST00000443726.2_In_Frame_Del_p.E349del	p.E472del	NM_022898.1	NP_075049.1	Q9C0K0	BC11B_HUMAN		COAD - Colon adenocarcinoma(157;0.103)	3	1680_1682	-		Melanoma(154;0.0866)|all_epithelial(191;0.241)	543					Q9H162	In_Frame_Del	DEL	ENST00000357195.3	37	c.1414_1416delGAG	CCDS9950.1																																																																																				0.700	BCL11B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000072332.2	NM_138576		4	6						4	6	---	---	---	---
C20orf144	128864	broad.mit.edu	37	20	32251496	32251497	+	In_Frame_Ins	INS	-	-	CTG			TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chr20:32251496_32251497insCTG	ENST00000375222.3	+	2	347_348	c.285_286insCTG	c.(286-288)ctg>CTGctg	p.96_96L>LL	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000606525.1_5'Flank|ACTL10_ENST00000330271.4_5'Flank|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	96										lung(1)	1						GGATGCCGGTACTGCTGCTGCT	0.748																																						ENST00000375222.3																			0				lung(1)	1						c.(283-288)gttgct>gtCTGtgct		chromosome 20 open reading frame 144			,,	9,2599		4,1,1299					,,	-5.1	0.0		dbSNP_134	4	8,5796		2,4,2896	no	coding,intron,intron	NECAB3,C20orf144	NM_080825.3,NM_031232.3,NM_031231.3	,,	6,5,4195	A1A1,A1R,RR		0.1378,0.3451,0.2021	,,	,,		17,8395				SO:0001652	inframe_insertion	128864							g.chr20:32251496_32251497insCTG	AL121906	CCDS13223.1	20q11.22	2012-07-17			ENSG00000149609	ENSG00000149609			16137	protein-coding gene	gene with protein product	"""bcl-2-like protein from testis"""					11780052	Standard	NM_080825		Approved	dJ63M2.6, bclt	uc002wzs.2	Q9BQM9	OTTHUMG00000032263	ENST00000375222.3:c.295_297dupCTG	20.37:g.32251503_32251505dupCTG	ENSP00000364370:p.Leu99dup					NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	p.95_96VA>VCA	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN			2	347_348	+			95					Q1AHR2	In_Frame_Ins	INS	ENST00000375222.3	37	c.285_286insCTG	CCDS13223.1																																																																																				0.748	C20orf144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078714.2	NM_080825		6	6						6	6	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994114	140994116	+	In_Frame_Del	DEL	CTC	CTC	-	rs141900922|rs138660605|rs386828016		TCGA-FK-A3SE-01A-11D-A22D-08	TCGA-FK-A3SE-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90883300-d4b6-45d7-af9a-4e4ce4104500	3537e160-d1b4-40be-9152-2db2d8ac8a73	g.chrX:140994114_140994116delCTC	ENST00000285879.4	+	4	1210_1212	c.924_926delCTC	c.(922-927)agctcc>agc	p.308_309SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	308				SSS -> PSF (in Ref. 2; AAC24227). {ECO:0000305}.						breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.483										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(922-927)agc>ag		melanoma antigen family C, 1				8,3698		0,2,6,1588,520							0.1			130	41,6388		0,12,29,2341,1694	no	coding	MAGEC1	NM_005462.4		0,14,35,3929,2214	A1A1,A1R,A1,RR,R		0.6377,0.2159,0.4835				49,10086				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994114_140994116delCTC	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.924_926delCTC	X.37:g.140994123_140994125delCTC	ENSP00000285879:p.Ser313del	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS312del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1210_1212	+	Acute lymphoblastic leukemia(192;6.56e-05)		312					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.924_926delCTC	CCDS35417.1																																																																																				0.483	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		7	502						7	502	---	---	---	---
