#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
ZNF638	27332	broad.mit.edu	37	2	71658501	71658501	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:71658501C>T	ENST00000409544.1	+	26	6325	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	ZNF638_ENST00000409407.1_Missense_Mutation_p.R839C|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1899C|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1899					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAGCGAAAACGCAAGAAGAC	0.353																																						ENST00000409544.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						c.(5695-5697)Cgc>Tgc		zinc finger protein 638							56.0	55.0	56.0					2																	71658501		2203	4300	6503	SO:0001583	missense	27332				RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding	g.chr2:71658501C>T	D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.5695C>T	2.37:g.71658501C>T	ENSP00000386433:p.Arg1899Cys					ZNF638_ENST00000409407.1_Missense_Mutation_p.R839C|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1899C	p.R1899C	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN			26	6325	+			1899					B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	ENST00000409544.1	37	c.5695C>T	CCDS1917.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.939703	0.73557	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407	T;T;T	0.38887	1.11;1.11;1.62	5.03	4.1	0.47936	.	0.660222	0.12898	N	0.430062	T	0.52419	0.1733	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.993	T	0.50083	-0.8869	10	0.66056	D	0.02	-1.6478	11.3165	0.49394	0.1813:0.8187:0.0:0.0	.	1899;1899	Q14966-3;Q14966	.;ZN638_HUMAN	C	1899;1899;839	ENSP00000264447:R1899C;ENSP00000386433:R1899C;ENSP00000386813:R839C	ENSP00000264447:R1899C	R	+	1	0	ZNF638	71512009	1.000000	0.71417	0.995000	0.50966	0.956000	0.61745	2.317000	0.43770	2.510000	0.84645	0.478000	0.44815	CGC		0.353	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000327431.1	NM_014497		40	57	0	0	0	1	0	40	57				
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	116	1	0	0.0215528	1	0.0225552	5	116				
LRIG3	121227	broad.mit.edu	37	12	59274457	59274457	+	Silent	SNP	G	G	A	rs377193373		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:59274457G>A	ENST00000320743.3	-	13	1993	c.1707C>T	c.(1705-1707)cgC>cgT	p.R569R	LRIG3_ENST00000379141.4_Silent_p.R509R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	569	Ig-like C2-type 1.				otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTCCACCTCGCGCAGCCGAA	0.468			T	ROS1	NSCLC																																	ENST00000320743.3				Dom	yes		12	12q14.1	121227	T	leucine-rich repeats and immunoglobulin-like domains 3			E	ROS1		NSCLC	LRIG3/ROS1(2)	0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(1705-1707)cgC>cgT		leucine-rich repeats and immunoglobulin-like domains 3		G	,	0,4406		0,0,2203	93.0	82.0	86.0		1527,1707	3.2	0.6	12		86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	LRIG3	NM_001136051.1,NM_153377.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	509/1060,569/1120	59274457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121227					integral to membrane		g.chr12:59274457G>A	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.1707C>T	12.37:g.59274457G>A						LRIG3_ENST00000379141.4_Silent_p.R509R	p.R569R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		13	1993	-			569			Ig-like C2-type 1.		Q6UXL7|Q8NC72	Silent	SNP	ENST00000320743.3	37	c.1707C>T	CCDS8960.1																																																																																				0.468	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377		24	51	0	0	0	1	0	24	51				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	135	0	0	0	1	0	5	135				
MBTPS1	8720	broad.mit.edu	37	16	84104317	84104317	+	Missense_Mutation	SNP	G	G	A	rs553862782		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr16:84104317G>A	ENST00000343411.3	-	13	2153	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L	MBTPS1_ENST00000569770.1_5'Flank	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	553					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|lipid metabolic process (GO:0006629)|lysosome organization (GO:0007040)|proteolysis (GO:0006508)|regulation of transcription factor import into nucleus (GO:0042990)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCATAAGACCGAGGAGTAGGA	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		18550	0.0		0.0	False		,,,				2504	0.001					ENST00000343411.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1657-1659)tCg>tTg		membrane-bound transcription factor peptidase, site 1							101.0	90.0	94.0					16																	84104317		2200	4300	6500	SO:0001583	missense	8720				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity	g.chr16:84104317G>A	D42053	CCDS10941.1	16q24	2008-08-04	2005-08-17		ENSG00000140943	ENSG00000140943			15456	protein-coding gene	gene with protein product		603355	"""membrane-bound transcription factor protease, site 1"""			9809072, 10944850	Standard	NM_003791		Approved	S1P, KIAA0091, SKI-1, PCSK8	uc002fhi.3	Q14703	OTTHUMG00000137639	ENST00000343411.3:c.1658C>T	16.37:g.84104317G>A	ENSP00000344223:p.Ser553Leu						p.S553L	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN			13	2153	-			553					A8K6V8|Q24JQ2|Q9UF67	Missense_Mutation	SNP	ENST00000343411.3	37	c.1658C>T	CCDS10941.1	.	.	.	.	.	.	.	.	.	.	G	17.23	3.336756	0.60963	.	.	ENSG00000140943	ENST00000343411	T	0.14893	2.47	5.76	5.76	0.90799	.	0.109437	0.64402	D	0.000004	T	0.20047	0.0482	L	0.42245	1.32	0.46701	D	0.999166	B	0.18461	0.028	B	0.15870	0.014	T	0.01743	-1.1283	10	0.49607	T	0.09	-16.2538	19.9699	0.97282	0.0:0.0:1.0:0.0	.	553	Q14703	MBTP1_HUMAN	L	553	ENSP00000344223:S553L	ENSP00000344223:S553L	S	-	2	0	MBTPS1	82661818	1.000000	0.71417	0.969000	0.41365	0.825000	0.46686	6.640000	0.74319	2.730000	0.93505	0.591000	0.81541	TCG		0.512	MBTPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269080.2	NM_003791		4	98	0	0	0	1	0	4	98				
SVIL	6840	broad.mit.edu	37	10	29822350	29822350	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:29822350C>G	ENST00000355867.4	-	8	1698	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SVIL_ENST00000375398.2_Missense_Mutation_p.A316P|SVIL_ENST00000375400.3_Intron	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	316					cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGTTTCGAGCACTTTCCTCT	0.458																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(946-948)Gct>Cct		supervillin							63.0	58.0	60.0					10																	29822350		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29822350C>G	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.946G>C	10.37:g.29822350C>G	ENSP00000348128:p.Ala316Pro					SVIL_ENST00000355867.4_Missense_Mutation_p.A316P|SVIL_ENST00000375400.3_Intron	p.A316P			O95425	SVIL_HUMAN			10	1395	-		Breast(68;0.103)	316					D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.946G>C	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806045	0.70682	.	.	ENSG00000197321	ENST00000375398;ENST00000355867	T;T	0.48522	0.81;0.81	5.85	4.89	0.63831	.	0.420516	0.26836	N	0.022254	T	0.45716	0.1356	M	0.65975	2.015	0.80722	D	1	P	0.49961	0.93	P	0.44860	0.462	T	0.45041	-0.9288	9	.	.	.	-17.4101	6.5249	0.22295	0.1517:0.7061:0.0:0.1422	.	316	O95425	SVIL_HUMAN	P	316	ENSP00000364547:A316P;ENSP00000348128:A316P	.	A	-	1	0	SVIL	29862356	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	0.880000	0.28159	2.767000	0.95098	0.655000	0.94253	GCT		0.458	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			13	35	0	0	0	1	0	13	35				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	107	0	0	0	1	0	4	107				
AGFG2	3268	broad.mit.edu	37	7	100161493	100161493	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:100161493T>C	ENST00000300176.4	+	10	1330	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	403	Pro-rich.				regulation of ARF GTPase activity (GO:0032312)	membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.F403fs*30(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCCTGGCTTCCCCCAGGCA	0.617											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000300176.4																			1	Deletion - Frameshift(1)	p.F403fs*30(1)	ovary(1)	NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1207-1209)tTc>tCc		ArfGAP with FG repeats 2							64.0	70.0	68.0					7																	100161493		2203	4300	6503	SO:0001583	missense	3268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr7:100161493T>C	AF015042	CCDS5697.1	7q22.1	2008-09-22	2008-09-22	2008-09-22	ENSG00000106351	ENSG00000106351		"""ADP-ribosylation factor GTPase activating proteins"""	5177	protein-coding gene	gene with protein product		604019	"""HIV-1 Rev binding protein-like"""	HRBL		9799793	Standard	XM_005250306		Approved	RABR	uc003uvf.3	O95081	OTTHUMG00000156029	ENST00000300176.4:c.1208T>C	7.37:g.100161493T>C	ENSP00000300176:p.Phe403Ser		OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	AGFG2_ENST00000474713.1_Intron|AGFG2_ENST00000262935.4_3'UTR	p.F403S	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN			10	1330	+			403			Pro-rich.		O75429|Q96AB9|Q96GL4	Missense_Mutation	SNP	ENST00000300176.4	37	c.1208T>C	CCDS5697.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.49|16.49	3.138652|3.138652	0.56936|0.56936	.|.	.|.	ENSG00000106351|ENSG00000106351	ENST00000300176|ENST00000429987	T|.	0.26067|.	1.76|.	4.34|4.34	4.34|4.34	0.51931|0.51931	.|.	0.267984|.	0.36665|.	N|.	0.002461|.	T|T	0.64461|0.64461	0.2600|0.2600	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	P|.	0.48911|.	0.917|.	B|.	0.44315|.	0.446|.	T|T	0.64253|0.64253	-0.6451|-0.6451	10|5	0.10636|.	T|.	0.68|.	-45.5213|-45.5213	9.911|9.911	0.41406|0.41406	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	403|.	O95081|.	AGFG2_HUMAN|.	S|P	403|145	ENSP00000300176:F403S|.	ENSP00000300176:F403S|.	F|S	+|+	2|1	0|0	AGFG2|AGFG2	99999429|99999429	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.414000|0.414000	0.31173|0.31173	1.450000|1.450000	0.35134|0.35134	1.847000|1.847000	0.53656|0.53656	0.454000|0.454000	0.30748|0.30748	TTC|TCC		0.617	AGFG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342769.1	NM_006076		40	54	0	0	0	1	0	40	54				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	135	0	0	0	1	0	5	135				
MAML3	55534	broad.mit.edu	37	4	140811108	140811108	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.537																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1480-1482)caG>caA		mastermind-like 3 (Drosophila)							14.0	19.0	17.0					4																	140811108		2165	4272	6437	SO:0001819	synonymous_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811108C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1482G>A	4.37:g.140811108C>T						MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	p.Q494Q	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2338	-	all_hematologic(180;0.162)		494			Gln-rich.			Silent	SNP	ENST00000509479.2	37	c.1482G>A	CCDS54805.1																																																																																				0.537	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			4	47	0	0	0	1	0	4	47				
OR13D1	286365	broad.mit.edu	37	9	107456886	107456886	+	Missense_Mutation	SNP	C	C	G			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107456886C>G	ENST00000318763.5	+	1	227	c.184C>G	c.(184-186)Ctc>Gtc	p.L62V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	62						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCTGTTCCTGCTCTGCCTCAT	0.443																																						ENST00000318763.5																			0				large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						c.(184-186)Ctc>Gtc		olfactory receptor, family 13, subfamily D, member 1							110.0	110.0	110.0					9																	107456886		2203	4298	6501	SO:0001583	missense	286365				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107456886C>G		CCDS35094.1	9q31.1	2013-09-24			ENSG00000179055	ENSG00000179055		"""GPCR / Class A : Olfactory receptors"""	14695	protein-coding gene	gene with protein product							Standard	NM_001004484		Approved		uc011lvs.2	Q8NGV5	OTTHUMG00000020412	ENST00000318763.5:c.184C>G	9.37:g.107456886C>G	ENSP00000317357:p.Leu62Val						p.L62V	NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN			1	227	+			62					B9EIS1|Q6IFL1	Missense_Mutation	SNP	ENST00000318763.5	37	c.184C>G	CCDS35094.1	.	.	.	.	.	.	.	.	.	.	C	4.294	0.053712	0.08291	.	.	ENSG00000179055	ENST00000318763	T	0.16743	2.32	3.75	1.78	0.24846	.	0.310296	0.23245	N	0.050305	T	0.10981	0.0268	L	0.48877	1.53	0.20403	N	0.9999	B	0.27625	0.183	B	0.23852	0.049	T	0.32561	-0.9902	10	0.12766	T	0.61	.	4.1762	0.10353	0.4069:0.4771:0.0:0.116	.	62	Q8NGV5	O13D1_HUMAN	V	62	ENSP00000317357:L62V	ENSP00000317357:L62V	L	+	1	0	OR13D1	106496707	0.000000	0.05858	0.834000	0.33040	0.548000	0.35241	-2.016000	0.01446	0.223000	0.20920	0.609000	0.83330	CTC		0.443	OR13D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053483.1			46	69	0	0	0	1	0	46	69				
FAM9C	171484	broad.mit.edu	37	X	13061059	13061059	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:13061059G>A	ENST00000333995.3	-	4	322	c.192C>T	c.(190-192)acC>acT	p.T64T	FAM9C_ENST00000380625.3_Silent_p.T64T|FAM9C_ENST00000542843.1_Silent_p.T64T			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	64						nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CTAGCTCCTTGGTATCAACCC	0.348																																						ENST00000542843.1																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						c.(190-192)acC>acT		family with sequence similarity 9, member C							102.0	87.0	92.0					X																	13061059		2203	4300	6503	SO:0001819	synonymous_variant	171484					nucleus		g.chrX:13061059G>A		CCDS35203.1	Xp22.32	2013-03-14			ENSG00000187268	ENSG00000187268			18405	protein-coding gene	gene with protein product	"""testis expressed 39C"""	300479					Standard	NM_174901		Approved	TEX39C	uc004cvh.2	Q8IZT9	OTTHUMG00000021143	ENST00000333995.3:c.192C>T	X.37:g.13061059G>A						FAM9C_ENST00000380625.3_Silent_p.T64T|FAM9C_ENST00000333995.3_Silent_p.T64T	p.T64T			Q8IZT9	FAM9C_HUMAN			4	402	-			64					B2R9G7|Q5HYJ6	Silent	SNP	ENST00000333995.3	37	c.192C>T	CCDS35203.1	.	.	.	.	.	.	.	.	.	.	G	0.476	-0.882359	0.02530	.	.	ENSG00000187268	ENST00000438997	.	.	.	0.415	-0.83	0.10792	.	.	.	.	.	T	0.22742	0.0549	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25847	-1.0120	3	.	.	.	.	.	.	.	.	.	.	.	L	24	.	.	P	-	2	0	FAM9C	12970980	0.008000	0.16893	0.002000	0.10522	0.012000	0.07955	-0.321000	0.08018	-0.678000	0.05224	0.181000	0.17075	CCA		0.348	FAM9C-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000316476.1	NM_174901		8	83	0	0	0	1	0	8	83				
ANKRD36C	400986	broad.mit.edu	37	2	96593016	96593016	+	Missense_Mutation	SNP	C	C	A	rs79307257		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:96593016C>A	ENST00000456556.1	-	28	1969	c.1885G>T	c.(1885-1887)Gat>Tat	p.D629Y	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	629							ion channel inhibitor activity (GO:0008200)	p.D629Y(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAAACAGAATCTTTCTCATCA	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D629Y(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1885-1887)Gat>Tat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593016C>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1885G>T	2.37:g.96593016C>A	ENSP00000403302:p.Asp629Tyr						p.D629Y							28	1969	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1885G>T		.	.	.	.	.	.	.	.	.	.	c	9.675	1.147829	0.21288	.	.	ENSG00000174501	ENST00000456556	T	0.77489	-1.1	0.578	0.578	0.17391	.	.	.	.	.	T	0.79540	0.4463	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.70428	-0.4874	6	0.72032	D	0.01	.	.	.	.	.	.	.	.	Y	629	ENSP00000403302:D629Y	ENSP00000403302:D629Y	D	-	1	0	AC073995.2	95956743	0.004000	0.15560	0.041000	0.18516	0.061000	0.15899	0.559000	0.23485	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	102	1	0	0.00198382	1	0.00212552	5	102				
IGF2BP3	10643	broad.mit.edu	37	7	23381773	23381773	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:23381773G>A	ENST00000258729.3	-	10	1469	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	371					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GACCCAAGGCGTTCAGATTTA	0.468																																						ENST00000258729.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						c.(1111-1113)aaC>aaT		insulin-like growth factor 2 mRNA binding protein 3							54.0	53.0	53.0					7																	23381773		2203	4300	6503	SO:0001819	synonymous_variant	10643				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity	g.chr7:23381773G>A	AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.1113C>T	7.37:g.23381773G>A							p.N371N	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN			10	1469	-			371					A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Silent	SNP	ENST00000258729.3	37	c.1113C>T	CCDS5382.1																																																																																				0.468	IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547		19	33	0	0	0	1	0	19	33				
ABCA1	19	broad.mit.edu	37	9	107558678	107558678	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107558678C>T	ENST00000374736.3	-	38	5543	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1717					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	ATGATAATGACCAGTGTGGCA	0.433																																						ENST00000374736.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115						c.(5149-5151)Gtc>Atc		ATP-binding cassette, sub-family A (ABC1), member 1	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						117.0	99.0	105.0					9																	107558678		2203	4300	6503	SO:0001583	missense	19				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	g.chr9:107558678C>T	AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.5149G>A	9.37:g.107558678C>T	ENSP00000363868:p.Val1717Ile						p.V1717I	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;0.023)	38	5543	-			1717					Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	ENST00000374736.3	37	c.5149G>A	CCDS6762.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869193	0.91587	.	.	ENSG00000165029	ENST00000374736	D	0.82984	-1.67	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.86887	0.6041	L	0.58583	1.82	0.80722	D	1	P	0.36222	0.544	P	0.46885	0.53	D	0.85236	0.1035	10	0.48119	T	0.1	.	20.1272	0.97986	0.0:1.0:0.0:0.0	.	1717	O95477	ABCA1_HUMAN	I	1717	ENSP00000363868:V1717I	ENSP00000363868:V1717I	V	-	1	0	ABCA1	106598499	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.828000	0.97474	0.655000	0.94253	GTC		0.433	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053491.1	NM_005502		15	17	0	0	0	1	0	15	17				
TANC1	85461	broad.mit.edu	37	2	160005688	160005688	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:160005688G>A	ENST00000263635.6	+	6	637	c.400G>A	c.(400-402)Gca>Aca	p.A134T	TANC1_ENST00000454300.1_Intron	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	134					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTGTTCGCCGGCAGCTCAAGA	0.453																																						ENST00000263635.6																			0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						c.(400-402)Gca>Aca		tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1							122.0	119.0	120.0					2																	160005688		1883	4095	5978	SO:0001583	missense	85461					cell junction|postsynaptic density|postsynaptic membrane	binding	g.chr2:160005688G>A	AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.400G>A	2.37:g.160005688G>A	ENSP00000263635:p.Ala134Thr					TANC1_ENST00000454300.1_Intron	p.A134T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN			6	637	+			134					C9JD88|Q49AI8	Missense_Mutation	SNP	ENST00000263635.6	37	c.400G>A	CCDS42766.1	.	.	.	.	.	.	.	.	.	.	G	36	5.769558	0.96914	.	.	ENSG00000115183	ENST00000263635	T	0.62364	0.03	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.68952	2.095	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.77004	0.989;0.912	T	0.79916	-0.1601	10	0.87932	D	0	.	20.1162	0.97934	0.0:0.0:1.0:0.0	.	133;134	B9EK39;Q9C0D5	.;TANC1_HUMAN	T	134	ENSP00000263635:A134T	ENSP00000263635:A134T	A	+	1	0	TANC1	159713934	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.164000	0.94755	2.756000	0.94617	0.655000	0.94253	GCA		0.453	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333135.1			4	121	0	0	0	1	0	4	121				
TYW1B	441250	broad.mit.edu	37	7	72081809	72081809	+	RNA	SNP	T	T	C	rs201876441	byFrequency	TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:72081809T>C	ENST00000435769.2	-	0	1756				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000343721.5_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										GAACTTTCTCTGCAGTAGGTA	0.498																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)							195.0	152.0	165.0					7																	72081809		692	1591	2283			441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72081809T>C	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72081809T>C										Q6NUM6	TYW1B_HUMAN			0	1246	-								A6NG09|B4DFY2|Q3KQX2	RNA	SNP	ENST00000435769.2	37																																																																																						0.498	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		5	82	0	0	0	1	0	5	82				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			34	60	0	0	0	1	0	34	60				
NBPF9	400818	broad.mit.edu	37	1	144825416	144825416	+	Missense_Mutation	SNP	G	G	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:144825416G>T	ENST00000440491.2	+	11	1368	c.1368G>T	c.(1366-1368)tgG>tgT	p.W456C	NBPF9_ENST00000338347.4_Intron|NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	714	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(2)|prostate(1)	3						TGGGTAGATGGTATTCGACTC	0.498																																						ENST00000440491.2																			0				NS(2)|prostate(1)	3						c.(1366-1368)tgG>tgT		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144825416G>T		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.1368G>T	1.37:g.144825416G>T	ENSP00000390934:p.Trp456Cys					NBPF9_ENST00000281815.8_Intron|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000338347.4_Intron	p.W456C	NM_001037675.2	NP_001032764.1					11	1368	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.1368G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.854584|-3.854584	0.00004|0.00004	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000440491	.|T	.|0.04360	.|3.64	1.21|1.21	-2.43|-2.43	0.06522|0.06522	.|.	.|.	.|.	.|.	.|.	T|T	0.00328|0.00328	0.0010|0.0010	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.41645|0.41645	-0.9497|-0.9497	4|6	.|0.02654	.|T	.|1	.|.	2.085|2.085	0.03644|0.03644	0.1601:0.1508:0.4683:0.2208|0.1601:0.1508:0.4683:0.2208	.|.	.|.	.|.	.|.	V|C	455|456	.|ENSP00000390934:W456C	.|ENSP00000390934:W456C	G|W	+|+	2|3	0|0	NBPF9|NBPF9	143536773|143536773	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-1.250000|-1.250000	0.02885|0.02885	-3.829000|-3.829000	0.00102|0.00102	-1.228000|-1.228000	0.01579|0.01579	GGT|TGG		0.498	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		4	206	1	0	0.150653	1	0.150653	4	206				
UBC	7316	broad.mit.edu	37	12	125397211	125397211	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:125397211G>A	ENST00000536769.1	-	1	2683	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	UBC_ENST00000339647.5_Silent_p.S369S|UBC_ENST00000538617.1_Intron|MIR5188_ENST00000583467.1_RNA|UBC_ENST00000546120.1_Silent_p.S293S|UBC_ENST00000536661.1_5'Flank			P0CG48	UBC_HUMAN	ubiquitin C	369	Ubiquitin-like 5. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGCAAGGTGGACTCTTTCT	0.542																																						ENST00000536769.1																			0				breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1105-1107)tcC>tcT		ubiquitin C							216.0	196.0	203.0					12																	125397211		2203	4300	6503	SO:0001819	synonymous_variant	7316				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr12:125397211G>A		CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000536769.1:c.1107C>T	12.37:g.125397211G>A						UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.S293S|UBC_ENST00000339647.5_Silent_p.S369S	p.S369S			P0CG48	UBC_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)	1	2683	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		369			Ubiquitin-like 5.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000536769.1	37	c.1107C>T	CCDS9260.1																																																																																				0.542	UBC-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400177.1	NM_021009		87	227	0	0	0	1	0	87	227				
LOC101927209	101927209	broad.mit.edu	37	1	142713407	142713407	+	lincRNA	SNP	C	C	T	rs200984414		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:142713407C>T	ENST00000610091.1	-	0	2251																											CAGTAAGAAACTCATTCTTAT	0.318																																						ENST00000369381.2																			0																																																			0							g.chr1:142713407C>T																													1.37:g.142713407C>T														0	1198	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.318	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			9	49	0	0	0	1	0	9	49				
KRT81	3887	broad.mit.edu	37	12	52680923	52680923	+	Missense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:52680923C>T	ENST00000327741.5	-	7	1278	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	404	Coil 2.|Rod.					extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGTGGCGATCTCGATG	0.642																																						ENST00000327741.5																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16						c.(1210-1212)Gcc>Acc		keratin 81							56.0	57.0	56.0					12																	52680923		2203	4295	6498	SO:0001583	missense	3887					keratin filament	protein binding|structural molecule activity	g.chr12:52680923C>T	X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.1210G>A	12.37:g.52680923C>T	ENSP00000369349:p.Ala404Thr					KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	p.A404T	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.189)	7	1278	-			404			Coil 2.|Rod.		Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	Missense_Mutation	SNP	ENST00000327741.5	37	c.1210G>A	CCDS31805.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430192	0.83776	.	.	ENSG00000205426	ENST00000327741;ENST00000389388	D	0.90900	-2.75	5.32	4.41	0.53225	Filament (1);Intermediate filament protein, conserved site (1);	0.000000	0.41500	U	0.000866	D	0.91764	0.7395	M	0.82716	2.605	0.41247	D	0.986682	B	0.33345	0.409	B	0.37989	0.262	D	0.91635	0.5322	10	0.66056	D	0.02	.	14.384	0.66931	0.0:0.9274:0.0:0.0726	.	404	Q14533	KRT81_HUMAN	T	404	ENSP00000369349:A404T	ENSP00000369349:A404T	A	-	1	0	KRT81	50967190	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.063000	0.57499	1.203000	0.43233	0.561000	0.74099	GCC		0.642	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395128.2	NM_002281		10	116	0	0	0	1	0	10	116				
DACH2	117154	broad.mit.edu	37	X	85404019	85404019	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:85404019G>A	ENST00000373125.4	+	1	395	c.395G>A	c.(394-396)cGc>cAc	p.R132H	DACH2_ENST00000373131.1_Missense_Mutation_p.R132H	NM_053281.3	NP_444511.1	Q96NX9	DACH2_HUMAN	dachshund family transcription factor 2	132	DACHbox-N.				development of primary female sexual characteristics (GO:0046545)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CGGATCCTCCGCGGGCTGGGG	0.567																																						ENST00000373131.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						c.(394-396)cGc>cAc		dachshund homolog 2 (Drosophila)							54.0	55.0	55.0					X																	85404019		2202	4300	6502	SO:0001583	missense	117154				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	g.chrX:85404019G>A	AF428101	CCDS14455.1, CCDS48140.1, CCDS55457.1	Xq21.3	2014-02-03	2014-02-03		ENSG00000126733	ENSG00000126733			16814	protein-coding gene	gene with protein product		300608	"""dachshund homolog 2 (Drosophila)"""				Standard	NM_053281		Approved		uc004eew.2	Q96NX9	OTTHUMG00000021944	ENST00000373125.4:c.395G>A	X.37:g.85404019G>A	ENSP00000362217:p.Arg132His					DACH2_ENST00000373125.4_Missense_Mutation_p.R132H	p.R132H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN			1	558	+			132			DACHbox-N.		B1AJV3|B4DQG3|Q8NAY3|Q8ND17|Q96N55	Missense_Mutation	SNP	ENST00000373125.4	37	c.395G>A	CCDS14455.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374782	0.82573	.	.	ENSG00000126733	ENST00000344497;ENST00000373131;ENST00000373125	D;D	0.86164	-2.08;-2.08	4.5	4.5	0.54988	DNA binding domain, putative (1);Transforming protein Ski (2);	0.000000	0.51477	D	0.000094	D	0.94072	0.8100	M	0.87180	2.865	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.95253	0.8361	10	0.87932	D	0	.	16.1211	0.81357	0.0:0.0:1.0:0.0	.	132;132	Q96NX9-2;Q96NX9	.;DACH2_HUMAN	H	132	ENSP00000362223:R132H;ENSP00000362217:R132H	ENSP00000345134:R132H	R	+	2	0	DACH2	85290675	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.862000	0.92283	2.071000	0.62044	0.544000	0.68410	CGC		0.567	DACH2-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359266.1	NM_053281		5	72	0	0	0	1	0	5	72				
PKHD1L1	93035	broad.mit.edu	37	8	110530475	110530475	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr8:110530475G>A	ENST00000378402.5	+	73	11873	c.11769G>A	c.(11767-11769)ttG>ttA	p.L3923L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3923					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTATCTTTTGGTTAAAGGAA	0.378										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(11767-11769)ttG>ttA		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							109.0	103.0	105.0					8																	110530475		1863	4087	5950	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110530475G>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.11769G>A	8.37:g.110530475G>A		HNSCC(38;0.096)					p.L3923L	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		73	11873	+			3923					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.11769G>A	CCDS47911.1																																																																																				0.378	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		20	46	0	0	0	1	0	20	46				
EVPL	2125	broad.mit.edu	37	17	74004207	74004207	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr17:74004207C>T	ENST00000301607.3	-	22	5332	c.5079G>A	c.(5077-5079)acG>acA	p.T1693T	TEN1-CDK3_ENST00000567351.1_RNA|EVPL_ENST00000586740.1_Silent_p.T1715T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1693	Globular 2.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTCCTTCCCCGTCTCGGGTT	0.617																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(5077-5079)acG>acA		envoplakin							105.0	93.0	97.0					17																	74004207		2203	4300	6503	SO:0001819	synonymous_variant	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74004207C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.5079G>A	17.37:g.74004207C>T						EVPL_ENST00000586740.1_Silent_p.T1715T	p.T1693T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	5332	-			1693			Globular 2.		A0AUV5	Silent	SNP	ENST00000301607.3	37	c.5079G>A	CCDS11737.1																																																																																				0.617	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		45	66	0	0	0	1	0	45	66				
ADCY4	196883	broad.mit.edu	37	14	24787935	24787935	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTCATATTGCGGCTTCTGGG	0.522																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3004-3006)ccG>ccA		adenylate cyclase 4							105.0	100.0	102.0					14																	24787935		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787935C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3006G>A	14.37:g.24787935C>T						ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	25	3119	-			1002					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.3006G>A	CCDS9627.1																																																																																				0.522	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			11	120	0	0	0	1	0	11	120				
OR10H5	284433	broad.mit.edu	37	19	15905218	15905218	+	Silent	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:15905218C>T	ENST00000308940.8	+	1	458	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCATGGGCTACGACCGCTACG	0.642																																						ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(358-360)taC>taT		olfactory receptor, family 10, subfamily H, member 5							142.0	118.0	126.0					19																	15905218		2203	4300	6503	SO:0001819	synonymous_variant	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905218C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.360C>T	19.37:g.15905218C>T							p.Y120Y	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	458	+			120					Q6IFJ0|Q96R60	Silent	SNP	ENST00000308940.8	37	c.360C>T	CCDS32940.1																																																																																				0.642	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			48	73	0	0	0	1	0	48	73				
ANKRD36C	400986	broad.mit.edu	37	2	96593000	96593000	+	Missense_Mutation	SNP	A	A	G	rs111976783		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:96593000A>G	ENST00000456556.1	-	28	1985	c.1901T>C	c.(1900-1902)aTa>aCa	p.I634T	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	634							ion channel inhibitor activity (GO:0008200)	p.I634T(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTCTGTGGCTATATTTGAAAC	0.338																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.I634T(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1900-1902)aTa>aCa		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593000A>G	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1901T>C	2.37:g.96593000A>G	ENSP00000403302:p.Ile634Thr						p.I634T							28	1985	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1901T>C		.	.	.	.	.	.	.	.	.	.	a	7.838	0.721224	0.15372	.	.	ENSG00000174501	ENST00000456556	T	0.77229	-1.08	0.578	-1.16	0.09678	.	.	.	.	.	T	0.70718	0.3256	M	0.71581	2.175	0.09310	N	1	.	.	.	.	.	.	T	0.56153	-0.8026	6	0.08381	T	0.77	.	.	.	.	.	.	.	.	T	634	ENSP00000403302:I634T	ENSP00000403302:I634T	I	-	2	0	AC073995.2	95956727	0.016000	0.18221	0.004000	0.12327	0.101000	0.19017	0.588000	0.23924	-0.580000	0.05944	0.163000	0.16589	ATA		0.338	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		4	96	0	0	0	1	0	4	96				
OR10Q1	219960	broad.mit.edu	37	11	57995753	57995753	+	Missense_Mutation	SNP	C	C	T	rs376884240		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr11:57995753C>T	ENST00000316770.2	-	1	637	c.595G>A	c.(595-597)Gtg>Atg	p.V199M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V199L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCCTGGTGCACGCGGATGTCA	0.592																																						ENST00000316770.2																			1	Substitution - Missense(1)	p.V199L(1)	lung(1)	autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35						c.(595-597)Gtg>Atg		olfactory receptor, family 10, subfamily Q, member 1		C	MET/VAL	1,4401	2.1+/-5.4	0,1,2200	77.0	66.0	70.0		595	2.6	0.8	11		70	0,8590		0,0,4295	no	missense	OR10Q1	NM_001004471.2	21	0,1,6495	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	199/320	57995753	1,12991	2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995753C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.595G>A	11.37:g.57995753C>T	ENSP00000314324:p.Val199Met						p.V199M	NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN			1	637	-		Breast(21;0.0589)	199					Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.595G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	8.111	0.778811	0.16120	2.27E-4	0.0	ENSG00000180475	ENST00000316770	T	0.00174	8.62	4.55	2.62	0.31277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38492	N	0.001672	T	0.00144	0.0004	L	0.33245	0.995	0.09310	N	1	P	0.50617	0.937	P	0.44897	0.463	T	0.50808	-0.8784	10	0.27082	T	0.32	.	6.759	0.23530	0.0:0.6777:0.1478:0.1746	.	199	Q8NGQ4	O10Q1_HUMAN	M	199	ENSP00000314324:V199M	ENSP00000314324:V199M	V	-	1	0	OR10Q1	57752329	0.000000	0.05858	0.841000	0.33234	0.016000	0.09150	-0.646000	0.05403	1.142000	0.42291	0.580000	0.79431	GTG		0.592	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		21	28	0	0	0	1	0	21	28				
NEO1	4756	broad.mit.edu	37	15	73418781	73418781	+	Missense_Mutation	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr15:73418781G>A	ENST00000339362.5	+	5	1195	c.748G>A	c.(748-750)Gta>Ata	p.V250I	NEO1_ENST00000558964.1_Missense_Mutation_p.V250I|NEO1_ENST00000560262.1_Missense_Mutation_p.V250I|NEO1_ENST00000261908.6_Missense_Mutation_p.V250I			Q92859	NEO1_HUMAN	neogenin 1	250	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|iron ion homeostasis (GO:0055072)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of transcription, DNA-templated (GO:0006355)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATCAGACTTGGTATTTTTGAA	0.388																																						ENST00000339362.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						c.(748-750)Gta>Ata		neogenin 1							138.0	130.0	133.0					15																	73418781		2198	4297	6495	SO:0001583	missense	4756				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus		g.chr15:73418781G>A	U61262	CCDS10247.1, CCDS53957.1, CCDS58378.1	15q22.3-q23	2014-06-20	2010-06-24		ENSG00000067141	ENSG00000067141		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7754	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 2"""	601907	"""neogenin (chicken) homolog 1"""			9121761	Standard	NM_002499		Approved	NGN, HsT17534, IGDCC2, NTN1R2	uc002avm.4	Q92859	OTTHUMG00000133509	ENST00000339362.5:c.748G>A	15.37:g.73418781G>A	ENSP00000341198:p.Val250Ile					NEO1_ENST00000261908.6_Missense_Mutation_p.V250I|NEO1_ENST00000558964.1_Missense_Mutation_p.V250I|NEO1_ENST00000560262.1_Missense_Mutation_p.V250I	p.V250I			Q92859	NEO1_HUMAN			5	1195	+			250			Ig-like C2-type 3.		B7ZKM9|B7ZKN0|O00340|Q17RX1	Missense_Mutation	SNP	ENST00000339362.5	37	c.748G>A	CCDS10247.1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018597	0.19355	.	.	ENSG00000067141	ENST00000339362;ENST00000261908	T;T	0.68903	-0.36;-0.36	5.65	3.58	0.41010	Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.241941	0.41194	D	0.000924	T	0.55465	0.1922	L	0.54908	1.71	0.36738	D	0.882081	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.15870	0.014;0.014;0.014	T	0.53669	-0.8406	10	0.21014	T	0.42	-3.4453	7.0319	0.24972	0.1629:0.1396:0.6974:0.0	.	250;250;250	B7ZKM9;B7ZKN0;Q92859	.;.;NEO1_HUMAN	I	250	ENSP00000341198:V250I;ENSP00000261908:V250I	ENSP00000261908:V250I	V	+	1	0	NEO1	71205834	0.998000	0.40836	0.990000	0.47175	0.421000	0.31385	1.628000	0.37060	1.226000	0.43582	0.467000	0.42956	GTA		0.388	NEO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257472.2	NM_002499		4	114	0	0	0	1	0	4	114				
ANKRD36C	400986	broad.mit.edu	37	2	96593025	96593025	+	Missense_Mutation	SNP	C	C	T	rs75189823		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:96593025C>T	ENST00000456556.1	-	28	1960	c.1876G>A	c.(1876-1878)Gat>Aat	p.D626N	ANKRD36C_ENST00000420871.2_5'Flank|ANKRD36C_ENST00000295246.5_5'Flank|ANKRD36C_ENST00000419039.2_5'Flank			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	626							ion channel inhibitor activity (GO:0008200)	p.D626N(1)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TCTTTCTCATCACTTGTAGCC	0.318																																						ENST00000456556.1																			1	Substitution - Missense(1)	p.D626N(1)	kidney(1)	breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(1876-1878)Gat>Aat		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96593025C>T	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.1876G>A	2.37:g.96593025C>T	ENSP00000403302:p.Asp626Asn						p.D626N							28	1960	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.1876G>A		.	.	.	.	.	.	.	.	.	.	c	12.80	2.046325	0.36085	.	.	ENSG00000174501	ENST00000456556	T	0.77098	-1.07	0.578	0.578	0.17391	.	.	.	.	.	T	0.80454	0.4626	M	0.70275	2.135	0.80722	P	0.0	.	.	.	.	.	.	T	0.82748	-0.0304	5	0.51188	T	0.08	.	.	.	.	.	.	.	.	N	626	ENSP00000403302:D626N	ENSP00000403302:D626N	D	-	1	0	AC073995.2	95956752	0.005000	0.15991	0.002000	0.10522	0.010000	0.07245	1.620000	0.36976	0.573000	0.29400	0.194000	0.17425	GAT		0.318	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		5	102	0	0	0	1	0	5	102				
ARMC9	80210	broad.mit.edu	37	2	232141451	232141451	+	Silent	SNP	G	G	T	rs141707678	byFrequency	TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:232141451G>T	ENST00000349938.4	+	15	1631	c.1437G>T	c.(1435-1437)tcG>tcT	p.S479S	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	479						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGAGTACTCGGTGGCTTTGC	0.562																																						ENST00000349938.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1435-1437)tcG>tcT		armadillo repeat containing 9							148.0	134.0	139.0					2																	232141451		2203	4300	6503	SO:0001819	synonymous_variant	80210						binding	g.chr2:232141451G>T	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1437G>T	2.37:g.232141451G>T						ARMC9_ENST00000483477.1_3'UTR	p.S479S	NM_001271466.1|NM_025139.3	NP_001258395.1|NP_079415.3	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	15	1631	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)	479					Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	ENST00000349938.4	37	c.1437G>T	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.423342	0.25639	.	.	ENSG00000135931	ENST00000424740	.	.	.	5.27	-5.03	0.02973	.	.	.	.	.	T	0.45115	0.1326	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44667	-0.9313	4	.	.	.	-3.6499	4.855	0.13555	0.2687:0.4962:0.1393:0.0958	.	.	.	.	L	182	.	.	R	+	2	0	ARMC9	231849695	0.006000	0.16342	0.967000	0.41034	0.993000	0.82548	-1.261000	0.02855	-0.607000	0.05738	0.563000	0.77884	CGG		0.562	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139		38	94	1	0	2.51541e-25	1	2.76082e-25	38	94				
ADAR	103	broad.mit.edu	37	1	154574120	154574120	+	Missense_Mutation	SNP	A	A	C			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:154574120A>C	ENST00000368474.4	-	2	1197	c.998T>G	c.(997-999)gTg>gGg	p.V333G	ADAR_ENST00000471068.1_5'Flank|ADAR_ENST00000292205.5_Missense_Mutation_p.V376G|ADAR_ENST00000368471.3_Missense_Mutation_p.V38G	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	333					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTCAATTAGCACAGCATTTAT	0.453																																						ENST00000368474.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51						c.(997-999)gTg>gGg		adenosine deaminase, RNA-specific							93.0	89.0	91.0					1																	154574120		2203	4300	6503	SO:0001583	missense	103				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding	g.chr1:154574120A>C	BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.998T>G	1.37:g.154574120A>C	ENSP00000357459:p.Val333Gly					ADAR_ENST00000292205.5_Missense_Mutation_p.V376G|ADAR_ENST00000368471.3_Missense_Mutation_p.V38G	p.V333G	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102.2|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)	2	1197	-	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		333					B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	ENST00000368474.4	37	c.998T>G	CCDS1071.1	.	.	.	.	.	.	.	.	.	.	A	14.71	2.615353	0.46631	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000368471;ENST00000529168	T;T;T;T	0.58652	0.32;0.32;0.32;0.32	4.75	4.75	0.60458	Winged helix-turn-helix transcription repressor DNA-binding (1);Double-stranded RNA-specific adenosine deaminase (DRADA) (3);	0.354378	0.29266	N	0.012648	T	0.49881	0.1583	L	0.40543	1.245	0.35097	D	0.764898	P;P;D	0.58620	0.846;0.846;0.983	P;P;P	0.57057	0.452;0.452;0.812	T	0.59989	-0.7350	10	0.87932	D	0	-12.2358	9.7567	0.40508	0.9186:0.0:0.0813:0.0	.	333;333;333	P55265-3;P55265-2;P55265	.;.;DSRAD_HUMAN	G	376;333;38;328	ENSP00000292205:V376G;ENSP00000357459:V333G;ENSP00000357456:V38G;ENSP00000431794:V328G	ENSP00000292205:V376G	V	-	2	0	ADAR	152840744	0.033000	0.19621	0.832000	0.32986	0.307000	0.27823	2.766000	0.47629	1.983000	0.57843	0.402000	0.26972	GTG		0.453	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090691.2	NM_001111		39	66	0	0	0	1	0	39	66				
IL34	146433	broad.mit.edu	37	16	70693984	70693984	+	Missense_Mutation	SNP	C	C	T	rs201277640		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr16:70693984C>T	ENST00000288098.2	+	6	1006	c.623C>T	c.(622-624)gCg>gTg	p.A208V	IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000429149.2_Missense_Mutation_p.A208V|FLJ00418_ENST00000597002.1_5'Flank	NM_001172772.1	NP_001166243.1	Q6ZMJ4	IL34_HUMAN	interleukin 34	208					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein phosphorylation (GO:0001934)	extracellular space (GO:0005615)	macrophage colony-stimulating factor receptor binding (GO:0005157)	p.A208V(1)		breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TTGCAGTATGCGGCCACCCAG	0.647													C|||	1	0.000199681	0.0	0.0	5008	,	,		14065	0.0		0.001	False		,,,				2504	0.0					ENST00000429149.2																			1	Substitution - Missense(1)	p.A208V(1)	urinary_tract(1)	breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						c.(622-624)gCg>gTg		interleukin 34		C	VAL/ALA,VAL/ALA,VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	96.0	105.0	102.0		620,623,623	-3.1	0.0	16		102	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	IL34	NM_001172771.1,NM_001172772.1,NM_152456.2	64,64,64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign	207/242,208/243,208/243	70693984	2,12994	2198	4300	6498	SO:0001583	missense	146433				positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding	g.chr16:70693984C>T	BC029804	CCDS10895.1	16q22.1	2008-08-01	2008-06-04	2008-06-04	ENSG00000157368	ENSG00000157368		"""Interleukins and interleukin receptors"""	28529	protein-coding gene	gene with protein product		612081	"""chromosome 16 open reading frame 77"""	C16orf77		18467591	Standard	NM_152456		Approved	MGC34647, IL-34	uc002ezh.2	Q6ZMJ4	OTTHUMG00000137581	ENST00000288098.2:c.623C>T	16.37:g.70693984C>T	ENSP00000288098:p.Ala208Val					IL34_ENST00000566361.1_Missense_Mutation_p.A183V|IL34_ENST00000288098.2_Missense_Mutation_p.A208V	p.A208V	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN			7	1178	+			208					B2RC28|B2Z4A8|B2ZC70|Q8N6L2	Missense_Mutation	SNP	ENST00000288098.2	37	c.623C>T	CCDS10895.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	1.250	-0.618797	0.03663	2.27E-4	1.16E-4	ENSG00000157368	ENST00000429149;ENST00000288098	T;T	0.34667	1.35;1.35	4.69	-3.08	0.05347	.	2.218580	0.03059	N	0.155676	T	0.10294	0.0252	N	0.01352	-0.895	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.08055	0.003;0.003	T	0.24261	-1.0165	10	0.05436	T	0.98	-0.0424	4.1458	0.10215	0.4149:0.3737:0.0:0.2114	.	207;208	Q6ZMJ4-2;Q6ZMJ4	.;IL34_HUMAN	V	208	ENSP00000397863:A208V;ENSP00000288098:A208V	ENSP00000288098:A208V	A	+	2	0	IL34	69251485	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.807000	0.01734	-0.832000	0.04251	-1.552000	0.00895	GCG		0.647	IL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268971.3	NM_152456		4	188	0	0	0	1	0	4	188				
CCDC150	284992	broad.mit.edu	37	2	197541384	197541384	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:197541384C>T	ENST00000389175.4	+	12	1504	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Nonsense_Mutation_p.R125*|CCDC150_ENST00000272831.7_Nonsense_Mutation_p.R125*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	457										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCAAGATTGCGAGGTGAATT	0.403																																						ENST00000389175.4																			0				breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1369-1371)Cga>Tga		coiled-coil domain containing 150							111.0	107.0	108.0					2																	197541384		1868	4119	5987	SO:0001587	stop_gained	284992							g.chr2:197541384C>T		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1369C>T	2.37:g.197541384C>T	ENSP00000373827:p.Arg457*					CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000272831.7_Nonsense_Mutation_p.R125*|CCDC150_ENST00000423093.2_Nonsense_Mutation_p.R125*	p.R457*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN			12	1504	+			457					Q6P5U6|Q6P663|Q8N8V5	Nonsense_Mutation	SNP	ENST00000389175.4	37	c.1369C>T	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703190	0.68501	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	.	.	.	5.22	3.36	0.38483	.	0.462766	0.17119	N	0.186312	.	.	.	.	.	.	0.58432	A	0.999996	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	0.5375	11.6739	0.51419	0.3219:0.6781:0.0:0.0	.	.	.	.	X	125;457;125	.	ENSP00000272831:R125X	R	+	1	2	CCDC150	197249629	0.806000	0.28996	0.017000	0.16124	0.064000	0.16182	2.002000	0.40835	0.711000	0.32018	0.563000	0.77884	CGA		0.403	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539		23	47	0	0	0	1	0	23	47				
PHF6	84295	broad.mit.edu	37	X	133511650	133511650	+	Start_Codon_SNP	SNP	G	G	C	rs398124428		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:133511650G>C	ENST00000332070.3	+	2	205	c.3G>C	c.(1-3)atG>atC	p.M1I	PHF6_ENST00000370803.3_Start_Codon_SNP_p.M1I|PHF6_ENST00000416404.2_Start_Codon_SNP_p.M1I|PHF6_ENST00000394292.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370799.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370800.4_Start_Codon_SNP_p.M1I	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	1					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|scaffold protein binding (GO:0097110)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAAAATCATGTCAAGCTCAG	0.343			"""F, N, Splice, Mis"""		ETP ALL																																Colon(100;666 1493 6344 21231 35807)	ENST00000332070.3				Rec	yes		X	Xq26.3	84295	"""F, N, Splice, Mis"""	PHD finger protein 6			L			ETP ALL		0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103						c.(1-3)atG>atC		PHD finger protein 6							75.0	72.0	73.0					X																	133511650		2203	4300	6503	SO:0001582	initiator_codon_variant	84295				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding	g.chrX:133511650G>C	AB058726	CCDS14639.1, CCDS14640.1	Xq26	2014-09-17			ENSG00000156531	ENSG00000156531		"""Zinc fingers, PHD-type"""	18145	protein-coding gene	gene with protein product	"""centromere protein 31"""	300414	"""Borjeson-Forssman-Lehmann syndrome"""	BFLS, BORJ		12415272, 15466013	Standard	NM_032335		Approved	KIAA1823, MGC14797, CENP-31	uc004exk.3	Q8IWS0	OTTHUMG00000022453	ENST00000332070.3:c.3G>C	X.37:g.133511650G>C	ENSP00000329097:p.Met1Ile					PHF6_ENST00000416404.2_Start_Codon_SNP_p.M1I|PHF6_ENST00000370799.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370803.3_Start_Codon_SNP_p.M1I|PHF6_ENST00000394292.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370800.4_Start_Codon_SNP_p.M1I	p.M1I	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN			2	205	+	Acute lymphoblastic leukemia(192;0.000127)		1					A8K230|B4E0G4|D3DTG3|E9PC97|Q5JRC7|Q5JRC8|Q96JK3|Q9BRU0	Translation_Start_Site	SNP	ENST00000332070.3	37	c.3G>C	CCDS14639.1	.	.	.	.	.	.	.	.	.	.	g	17.94	3.511545	0.64522	.	.	ENSG00000156531	ENST00000370803;ENST00000332070;ENST00000394292;ENST00000370799;ENST00000416404;ENST00000370800	D;D;D;D;D;D	0.90133	-2.62;-2.62;-2.04;-2.61;-1.93;-2.2	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.94968	0.8372	.	.	.	0.80722	D	1	P;P;P;P;P	0.48294	0.851;0.851;0.851;0.851;0.908	P;P;P;P;P	0.61397	0.775;0.775;0.775;0.775;0.888	D	0.94963	0.8110	9	0.62326	D	0.03	-14.4721	18.0626	0.89382	0.0:0.0:1.0:0.0	.	1;1;1;1;1	B4E0G4;A8K230;Q8IWS0;E9PC97;Q8IWS0-2	.;.;PHF6_HUMAN;.;.	I	1	ENSP00000359839:M1I;ENSP00000329097:M1I;ENSP00000377831:M1I;ENSP00000359835:M1I;ENSP00000394480:M1I;ENSP00000359836:M1I	ENSP00000329097:M1I	M	+	3	0	PHF6	133339316	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.922000	0.92789	2.574000	0.86865	0.540000	0.68198	ATG		0.343	PHF6-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058367.1	NM_032458	Missense_Mutation	43	101	0	0	0	1	0	43	101				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_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_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	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		5	120	0	0	0	1	0	5	120				
SORCS3	22986	broad.mit.edu	37	10	106602584	106602584	+	Missense_Mutation	SNP	A	A	G			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:106602584A>G	ENST00000369701.3	+	2	889	c.662A>G	c.(661-663)aAc>aGc	p.N221S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	221					learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATGACTTCAACCTGGGCAGC	0.483																																					NSCLC(116;1497 1690 7108 13108 14106)	ENST00000369701.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131						c.(661-663)aAc>aGc		sortilin-related VPS10 domain containing receptor 3							103.0	94.0	97.0					10																	106602584		2203	4300	6503	SO:0001583	missense	22986					integral to membrane	neuropeptide receptor activity	g.chr10:106602584A>G	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.662A>G	10.37:g.106602584A>G	ENSP00000358715:p.Asn221Ser						p.N221S	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)	2	889	+		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)	221					Q5VXF9|Q9NQJ2	Missense_Mutation	SNP	ENST00000369701.3	37	c.662A>G	CCDS7558.1	.	.	.	.	.	.	.	.	.	.	A	21.4	4.139614	0.77775	.	.	ENSG00000156395	ENST00000369701	T	0.35236	1.32	5.78	5.78	0.91487	VPS10 (1);	0.112218	0.56097	D	0.000023	T	0.45054	0.1323	L	0.32530	0.975	0.31698	N	0.641012	D	0.61697	0.99	P	0.58970	0.849	T	0.51593	-0.8686	10	0.41790	T	0.15	.	15.2958	0.73906	1.0:0.0:0.0:0.0	.	221	Q9UPU3	SORC3_HUMAN	S	221	ENSP00000358715:N221S	ENSP00000358715:N221S	N	+	2	0	SORCS3	106592574	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.329000	0.79170	2.200000	0.70718	0.460000	0.39030	AAC		0.483	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050221.1	NM_014978		4	66	0	0	0	1	0	4	66				
RP11-423O2.5	0	broad.mit.edu	37	1	142803276	142803278	+	lincRNA	DEL	AAC	AAC	-	rs140309984|rs145869340		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:142803276_142803278delAAC	ENST00000423385.1	-	0	1687_1689																											ACCAAACCAAaacaacaacaaca	0.345																																						ENST00000423385.1																			0																																																			0							g.chr1:142803276_142803278delAAC																													1.37:g.142803285_142803287delAAC														0	1687_1689	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.345	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			6	10						6	10	---	---	---	---
LOC101927708	101927708	broad.mit.edu	37	11	3552650	3552651	+	RNA	INS	-	-	G	rs34642454		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr11:3552650_3552651insG	ENST00000527970.1	-	0	285				RP13-726E6.1_ENST00000534291.1_lincRNA																							CAGCACCCCATGGGGGGGCCCT	0.5																																						ENST00000527970.1																			0																																																			0							g.chr11:3552650_3552651insG																													11.37:g.3552657_3552657dupG														0	285	-									RNA	INS	ENST00000527970.1	37																																																																																						0.500	RP13-726E6.2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000392273.1			4	5						4	5	---	---	---	---
CTB-134H23.3	0	broad.mit.edu	37	16	29118702	29118704	+	RNA	DEL	AGC	AGC	-	rs374747642		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr16:29118702_29118704delAGC	ENST00000562618.1	-	0	328_330				RRN3P2_ENST00000564580.1_RNA																							GCCAGGTCCAagcagcagcagca	0.66																																						ENST00000564580.1																			0																																																			0							g.chr16:29118702_29118704delAGC																													16.37:g.29118711_29118713delAGC						CTB-134H23.3_ENST00000562618.1_RNA								0	1448	+									RNA	DEL	ENST00000562618.1	37																																																																																						0.660	CTB-134H23.3-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433241.1			2	4						2	4	---	---	---	---
CIC	23152	broad.mit.edu	37	19	42795089	42795089	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:42795089delG	ENST00000575354.2	+	10	2209	c.2169delG	c.(2167-2169)ctgfs	p.L723fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.L723fs|CIC_ENST00000572681.2_Frame_Shift_Del_p.L1632fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	723	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTCCCCGCTGGGTGTCAGCT	0.652			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(4894-4896)ctfs		capicua transcriptional repressor							27.0	28.0	28.0					19																	42795089		2201	4294	6495	SO:0001589	frameshift_variant	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795089delG	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2169delG	19.37:g.42795089delG	ENSP00000458663:p.Leu723fs					CIC_ENST00000160740.3_Frame_Shift_Del_p.L723fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.L723fs	p.L1632fs			Q96RK0	CIC_HUMAN			11	4964	+		Prostate(69;0.00682)	723					Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	c.4896delG	CCDS12601.1																																																																																				0.652	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			18	10						18	10	---	---	---	---
