#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
TNPO2	30000	broad.mit.edu	37	19	12830080	12830080	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:12830080G>A	ENST00000592287.1	-	3	278	c.170C>T	c.(169-171)tCa>tTa	p.S57L	TNPO2_ENST00000450764.2_Missense_Mutation_p.S57L|TNPO2_ENST00000356861.5_Missense_Mutation_p.S57L|TNPO2_ENST00000425528.1_Missense_Mutation_p.S57L|TNPO2_ENST00000441499.1_Missense_Mutation_p.S57L|TNPO2_ENST00000588216.1_Missense_Mutation_p.S57L|TNPO2_ENST00000589956.1_5'UTR	NM_001136196.1	NP_001129668.1	O14787	TNPO2_HUMAN	transportin 2	57	Importin N-terminal.				intracellular protein transport (GO:0006886)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGTACCTTCTGACTTGAGTCT	0.542																																						ENST00000425528.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(169-171)tCa>tTa		transportin 2							166.0	180.0	175.0					19																	12830080		1984	4160	6144	SO:0001583	missense	30000				intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr19:12830080G>A	AF019039	CCDS45991.1, CCDS45992.1	19p13.13	2009-01-12	2009-01-12			ENSG00000105576		"""Importins"""	19998	protein-coding gene	gene with protein product	"""importin 3"", ""karyopherin beta 2b"""	603002				9298975, 12384575	Standard	NM_013433		Approved	IPO3, KPNB2B, FLJ12155, TRN2	uc002muo.3	O14787		ENST00000592287.1:c.170C>T	19.37:g.12830080G>A	ENSP00000468434:p.Ser57Leu					TNPO2_ENST00000592287.1_Missense_Mutation_p.S57L|TNPO2_ENST00000356861.5_Missense_Mutation_p.S57L|TNPO2_ENST00000441499.1_Missense_Mutation_p.S57L|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000450764.2_Missense_Mutation_p.S57L|TNPO2_ENST00000588216.1_Missense_Mutation_p.S57L	p.S57L			O14787	TNPO2_HUMAN			4	527	-			57			Importin N-terminal.		O14655|Q6IN77	Missense_Mutation	SNP	ENST00000592287.1	37	c.170C>T	CCDS45991.1	.	.	.	.	.	.	.	.	.	.	G	22.5	4.296601	0.81025	.	.	ENSG00000105576	ENST00000536114;ENST00000425528;ENST00000441499;ENST00000450764;ENST00000356861;ENST00000420511;ENST00000546320	T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58	5.15	5.15	0.70609	Armadillo-like helical (1);Armadillo-type fold (1);Importin-beta, N-terminal (2);	0.126084	0.56097	D	0.000038	T	0.72179	0.3428	M	0.81497	2.545	0.58432	D	0.999998	P;P	0.39022	0.655;0.64	B;B	0.33960	0.142;0.173	T	0.78316	-0.2251	10	0.66056	D	0.02	-21.6946	17.7517	0.88436	0.0:0.0:1.0:0.0	.	221;57	Q4LE60;O14787	.;TNPO2_HUMAN	L	221;57;57;57;57;57;57	ENSP00000407182:S57L;ENSP00000389648:S57L;ENSP00000397379:S57L;ENSP00000349321:S57L	ENSP00000349321:S57L	S	-	2	0	TNPO2	12691080	1.000000	0.71417	0.985000	0.45067	0.995000	0.86356	8.964000	0.93389	2.564000	0.86499	0.650000	0.86243	TCA		0.542	TNPO2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450785.1	NM_013433		13	30	0	0	0	1	0	13	30				
CCDC60	160777	broad.mit.edu	37	12	119942926	119942926	+	Missense_Mutation	SNP	G	G	A	rs146647643	byFrequency	TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr12:119942926G>A	ENST00000327554.2	+	7	1166	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	234								p.R234Q(1)		endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AAACCAAGCCGGCGAGGCTCC	0.547													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.0					ENST00000327554.2																			1	Substitution - Missense(1)	p.R234Q(1)	skin(1)	endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(700-702)cGg>cAg		coiled-coil domain containing 60		G	GLN/ARG	6,4400	9.9+/-24.2	0,6,2197	73.0	80.0	77.0		701	4.2	1.0	12	dbSNP_134	77	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CCDC60	NM_178499.3	43	0,7,6496	AA,AG,GG		0.0116,0.1362,0.0538	probably-damaging	234/551	119942926	7,12999	2203	4300	6503	SO:0001583	missense	160777							g.chr12:119942926G>A	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.701G>A	12.37:g.119942926G>A	ENSP00000333374:p.Arg234Gln					RP11-768F21.1_ENST00000509470.2_lincRNA	p.R234Q	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	7	1166	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		234						Missense_Mutation	SNP	ENST00000327554.2	37	c.701G>A	CCDS9190.1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	G	15.25	2.778157	0.49786	0.001362	1.16E-4	ENSG00000183273	ENST00000327554	T	0.25085	1.82	5.07	4.19	0.49359	.	0.537306	0.15293	N	0.270062	T	0.43166	0.1235	M	0.68317	2.08	0.80722	D	1	D	0.76494	0.999	P	0.61477	0.889	T	0.18085	-1.0348	9	.	.	.	-15.2958	9.4802	0.38895	0.0977:0.0:0.9023:0.0	.	234	Q8IWA6	CCD60_HUMAN	Q	234	ENSP00000333374:R234Q	.	R	+	2	0	CCDC60	118427309	0.999000	0.42202	0.969000	0.41365	0.013000	0.08279	4.489000	0.60309	1.128000	0.42052	-0.142000	0.14014	CGG		0.547	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		57	107	0	0	0	1	0	57	107				
FRG1B	284802	broad.mit.edu	37	20	29628263	29628263	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr20:29628263A>G	ENST00000278882.3	+	6	645	c.265A>G	c.(265-267)Att>Gtt	p.I89V	FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	89								p.I89V(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAGCTGCTTTATTAGATGCAA	0.363																																						ENST00000278882.3																			4	Substitution - Missense(4)	p.I89V(4)	prostate(2)|kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(265-267)Att>Gtt																																						SO:0001583	missense	284802							g.chr20:29628263A>G			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.265A>G	20.37:g.29628263A>G	ENSP00000278882:p.Ile89Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V|FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V	p.I89V							6	645	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.265A>G		.	.	.	.	.	.	.	.	.	.	a	8.196	0.797144	0.16327	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44482	0.92	2.08	2.08	0.27032	Actin cross-linking (1);	0.052017	0.85682	D	0.000000	T	0.22666	0.0547	.	.	.	0.33862	D	0.633895	B;B	0.06786	0.0;0.001	B;B	0.20767	0.018;0.031	T	0.12041	-1.0563	9	0.22706	T	0.39	.	3.8663	0.09018	0.8139:0.0:0.1861:0.0	.	94;89	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	V	89;94;89	ENSP00000408863:I94V	ENSP00000278882:I89V	I	+	1	0	FRG1B	28241924	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.345000	0.59360	1.208000	0.43306	0.347000	0.21830	ATT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	174	0	0	0	1	0	6	174				
CDYL2	124359	broad.mit.edu	37	16	80667072	80667072	+	Silent	SNP	C	C	T	rs531982053		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:80667072C>T	ENST00000570137.2	-	3	833	c.678G>A	c.(676-678)gcG>gcA	p.A226A	CDYL2_ENST00000563890.1_Silent_p.A227A|CDYL2_ENST00000562812.1_Silent_p.A227A|CDYL2_ENST00000566173.1_Silent_p.A227A	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	226						nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.A226A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						AGTCCTTCTCCGCTTCCAGCT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		22373	0.0		0.0	False		,,,				2504	0.001					ENST00000299564.8																			1	Substitution - coding silent(1)	p.A226A(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(676-678)gcG>gcA		chromodomain protein, Y-like 2							160.0	139.0	146.0					16																	80667072		2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80667072C>T	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.678G>A	16.37:g.80667072C>T						CDYL2_ENST00000562812.1_Silent_p.A227A|CDYL2_ENST00000566173.1_Silent_p.A227A|CDYL2_ENST00000563890.1_Silent_p.A227A	p.A226A	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN			3	833	-			226					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.678G>A	CCDS32493.1																																																																																				0.488	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342		46	87	0	0	0	1	0	46	87				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			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.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	116	0	0	0	1	0	5	116				
IGHV1OR16-3	28313	broad.mit.edu	37	16	32070612	32070612	+	RNA	SNP	A	A	C	rs368458790		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:32070612A>C	ENST00000566806.1	-	0	499																											GGTCTCCTGCAAGGCTTCTGG	0.552																																						ENST00000566806.1																			0																																																			28313							g.chr16:32070612A>C																													16.37:g.32070612A>C														0	499	-									RNA	SNP	ENST00000566806.1	37																																																																																						0.552	RP11-1166P10.6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432459.1			5	93	0	0	0	1	0	5	93				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		6	106	0	0	0	1	0	6	106				
TXNRD1	7296	broad.mit.edu	37	12	104713352	104713352	+	Silent	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr12:104713352C>T	ENST00000529546.1	+	6	639	c.414C>T	c.(412-414)taC>taT	p.Y138Y	TXNRD1_ENST00000540716.1_Silent_p.Y138Y|TXNRD1_ENST00000503506.2_Silent_p.Y176Y|TXNRD1_ENST00000429002.2_Silent_p.Y326Y|TXNRD1_ENST00000526691.1_Silent_p.Y228Y|TXNRD1_ENST00000397736.2_Silent_p.Y220Y|TXNRD1_ENST00000526390.1_Silent_p.Y220Y|TXNRD1_ENST00000525566.1_Silent_p.Y326Y|TXNRD1_ENST00000524698.1_Silent_p.Y176Y|TXNRD1_ENST00000378070.4_Silent_p.Y275Y|TXNRD1_ENST00000542918.1_Silent_p.Y226Y|TXNRD1_ENST00000354940.6_Silent_p.Y176Y|TXNRD1_ENST00000388854.3_Silent_p.Y228Y|TXNRD1_ENST00000427956.1_Silent_p.Y291Y|TXNRD1_ENST00000526950.1_Silent_p.Y245Y			Q16881	TRXR1_HUMAN	thioredoxin reductase 1	326	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				cell proliferation (GO:0008283)|cell redox homeostasis (GO:0045454)|cellular lipid metabolic process (GO:0044255)|mesoderm formation (GO:0001707)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|NADP binding (GO:0050661)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16					Arsenic trioxide(DB01169)|Flavin adenine dinucleotide(DB03147)	ACAAAGAATACTGCATCAGCA	0.398																																					Ovarian(139;555 1836 9186 9946 10884)	ENST00000526691.1																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						c.(682-684)taC>taT		thioredoxin reductase 1							28.0	27.0	27.0					12																	104713352		1836	4085	5921	SO:0001819	synonymous_variant	7296				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr12:104713352C>T		CCDS53820.1, CCDS53821.1, CCDS53823.1, CCDS58274.1	12q23-q24.1	2012-03-01							12437	protein-coding gene	gene with protein product		601112				7589432	Standard	NM_001093771		Approved	TXNR, GRIM-12, Trxr1	uc021rcx.2	Q16881		ENST00000529546.1:c.414C>T	12.37:g.104713352C>T						TXNRD1_ENST00000526390.1_Silent_p.Y220Y|TXNRD1_ENST00000525566.1_Silent_p.Y326Y|TXNRD1_ENST00000388854.3_Silent_p.Y228Y|TXNRD1_ENST00000524698.1_Silent_p.Y176Y|TXNRD1_ENST00000503506.2_Silent_p.Y176Y|TXNRD1_ENST00000427956.1_Silent_p.Y291Y|TXNRD1_ENST00000397736.2_Silent_p.Y220Y|TXNRD1_ENST00000354940.6_Silent_p.Y176Y|TXNRD1_ENST00000378070.4_Silent_p.Y275Y|TXNRD1_ENST00000429002.2_Silent_p.Y326Y|TXNRD1_ENST00000542918.1_Silent_p.Y226Y|TXNRD1_ENST00000540716.1_Silent_p.Y138Y|TXNRD1_ENST00000529546.1_Silent_p.Y138Y|TXNRD1_ENST00000526950.1_Silent_p.Y245Y	p.Y228Y	NM_001261445.1|NM_003330.3	NP_001248374.1|NP_003321.3	Q16881	TRXR1_HUMAN			7	1140	+			326					B7Z1F4|B7Z3Y8|B7Z904|E9PMY9|F5H780|Q6FI31|Q6VB40|Q6VB41|Q6VB42|Q6VBP2|Q6VBP3|Q6VBP4|Q6VBP5|Q6VBP9|Q6VBQ0|Q6YNQ1|Q76P53|Q7LA96|Q8WVC8|Q99475|Q9UES8|Q9UH79	Silent	SNP	ENST00000529546.1	37	c.684C>T	CCDS58274.1																																																																																				0.398	TXNRD1-004	PUTATIVE	basic|exp_conf|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000389969.1	NM_003330		3	9	0	0	0	1	0	3	9				
HAPLN4	404037	broad.mit.edu	37	19	19371680	19371680	+	Missense_Mutation	SNP	C	C	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:19371680C>A	ENST00000291481.7	-	3	489	c.426G>T	c.(424-426)gaG>gaT	p.E142D	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	142	Ig-like C2-type.				cell adhesion (GO:0007155)	proteinaceous extracellular matrix (GO:0005578)	hyaluronic acid binding (GO:0005540)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)		Hyaluronan(DB08818)	TGACTTCGCACTCATAGCGCC	0.622																																						ENST00000291481.7																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16						c.(424-426)gaG>gaT		hyaluronan and proteoglycan link protein 4							87.0	76.0	79.0					19																	19371680		2203	4300	6503	SO:0001583	missense	404037				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding	g.chr19:19371680C>A	AB107883	CCDS12398.1	19p13.1	2013-01-11						"""Immunoglobulin superfamily / V-set domain containing"""	31357	protein-coding gene	gene with protein product	"""brain link protein 2"""					12663660	Standard	NM_023002		Approved	BRAL2, KIAA1926	uc002nmb.3	Q86UW8		ENST00000291481.7:c.426G>T	19.37:g.19371680C>A	ENSP00000291481:p.Glu142Asp					AC138430.4_ENST00000586064.2_RNA	p.E142D	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	Epithelial(12;0.00575)		3	489	-			142			Ig-like C2-type.		A5PKW5|Q96PW2	Missense_Mutation	SNP	ENST00000291481.7	37	c.426G>T	CCDS12398.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.413014	0.83449	.	.	ENSG00000187664	ENST00000291481	T	0.65732	-0.17	4.66	1.09	0.20402	Immunoglobulin V-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63920	0.2552	L	0.50333	1.59	0.36016	D	0.838381	D	0.55385	0.971	P	0.56343	0.796	T	0.69394	-0.5157	10	0.87932	D	0	-42.7454	7.601	0.28075	0.0:0.6596:0.0:0.3404	.	142	Q86UW8	HPLN4_HUMAN	D	142	ENSP00000291481:E142D	ENSP00000291481:E142D	E	-	3	2	HAPLN4	19232680	0.672000	0.27530	1.000000	0.80357	0.991000	0.79684	-0.105000	0.10907	0.533000	0.28675	0.561000	0.74099	GAG		0.622	HAPLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460117.2	NM_023002		33	36	1	0	9.65021e-13	1	1.00698e-12	33	36				
RAD50	10111	broad.mit.edu	37	5	131931305	131931305	+	Silent	SNP	T	T	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:131931305T>A	ENST00000265335.6	+	13	2397	c.2010T>A	c.(2008-2010)atT>atA	p.I670I	RAD50_ENST00000378823.3_Silent_p.I531I			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	670	Zinc-hook. {ECO:0000255|PROSITE- ProRule:PRU00471}.				cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTTCATTACTCAGCTAA	0.388								Homologous recombination																														ENST00000378823.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1591-1593)atT>atA	Homologous recombination	RAD50 homolog (S. cerevisiae)							82.0	72.0	76.0					5																	131931305		2203	4300	6503	SO:0001819	synonymous_variant	10111				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding	g.chr5:131931305T>A	Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.2010T>A	5.37:g.131931305T>A						RAD50_ENST00000265335.6_Silent_p.I670I	p.I531I	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		13	2411	+		all_cancers(142;0.0368)|Breast(839;0.198)	670					B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	ENST00000265335.6	37	c.1593T>A	CCDS34233.1																																																																																				0.388	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132566.5	NM_005732		51	77	0	0	0	1	0	51	77				
ATP8B2	57198	broad.mit.edu	37	1	154309900	154309900	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:154309900G>T	ENST00000368489.3	+	12	1013	c.1013G>T	c.(1012-1014)cGt>cTt	p.R338L	ATP8B2_ENST00000341822.2_Missense_Mutation_p.R324L|ATP8B2_ENST00000426445.1_3'UTR|RNU7-57P_ENST00000459540.1_RNA|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R305L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	324					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R338H(1)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGGGGATGCGTTTCCAGGTC	0.552																																						ENST00000368489.3																		IL6R/ATP8B2(2)	1	Substitution - Missense(1)	p.R338H(1)	large_intestine(1)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51						c.(1012-1014)cGt>cTt		ATPase, aminophospholipid transporter, class I, type 8B, member 2							346.0	282.0	304.0					1																	154309900		2203	4300	6503	SO:0001583	missense	57198				ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr1:154309900G>T	AB032963	CCDS1066.1, CCDS41405.1	1q21.3	2012-03-09	2012-03-09		ENSG00000143515	ENSG00000143515		"""ATPases / P-type"""	13534	protein-coding gene	gene with protein product		605867	"""ATPase, class I, type 8B, member 2"""			10574461, 11015572	Standard	NM_020452		Approved	ATPID, KIAA1137	uc001fex.3	P98198	OTTHUMG00000035979	ENST00000368489.3:c.1013G>T	1.37:g.154309900G>T	ENSP00000357475:p.Arg338Leu					ATP8B2_ENST00000341822.2_Missense_Mutation_p.R324L|ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000368487.3_Missense_Mutation_p.R305L	p.R338L	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		12	1013	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		324					B4E3P4|Q6NT69|Q7Z486|Q96I43|Q96NQ7	Missense_Mutation	SNP	ENST00000368489.3	37	c.1013G>T	CCDS1066.1	.	.	.	.	.	.	.	.	.	.	G	8.269	0.812984	0.16537	.	.	ENSG00000143515	ENST00000368487;ENST00000368489;ENST00000341822	D;D;D	0.88664	-2.41;-2.41;-2.41	5.17	3.28	0.37604	ATPase, P-type, ATPase-associated domain (1);	0.242107	0.36200	N	0.002730	T	0.68787	0.3039	L	0.31065	0.9	0.31737	N	0.636293	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.13407	0.005;0.004;0.009	T	0.58808	-0.7571	10	0.40728	T	0.16	.	8.2546	0.31748	0.247:0.0:0.753:0.0	.	324;338;305	P98198;P98198-3;P98198-4	AT8B2_HUMAN;.;.	L	305;338;324	ENSP00000357472:R305L;ENSP00000357475:R338L;ENSP00000340448:R324L	ENSP00000340448:R324L	R	+	2	0	ATP8B2	152576524	0.980000	0.34600	0.978000	0.43139	0.783000	0.44284	1.365000	0.34182	0.752000	0.32923	0.561000	0.74099	CGT		0.552	ATP8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087658.2	NM_020452		89	123	1	0	3.28864e-39	1	3.50788e-39	89	123				
CFH	3075	broad.mit.edu	37	1	196645148	196645148	+	Missense_Mutation	SNP	G	G	A	rs121913058		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:196645148G>A	ENST00000359637.2	+	4	442	c.380G>A	c.(379-381)cGt>cAt	p.R127H	CFH_ENST00000367429.4_Missense_Mutation_p.R127H|CFH_ENST00000439155.2_Missense_Mutation_p.R127H			P08603	CFAH_HUMAN	complement factor H	191	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.		R -> L (in CFHD; with membranoproliferative glomerulonephritis). {ECO:0000269|PubMed:14978182}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ATTAATTACCGTGAATGTGAC	0.308																																						ENST00000367429.4																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101	GRCh37	CM044589|CM087105	CFH	M	rs121913058	c.(379-381)cGt>cAt		complement factor H							195.0	181.0	186.0					1																	196645148		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196645148G>A	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.380G>A	1.37:g.196645148G>A	ENSP00000352658:p.Arg127His					CFH_ENST00000439155.2_Missense_Mutation_p.R127H|CFH_ENST00000359637.2_Missense_Mutation_p.R127H	p.R127H	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			4	620	+			127		R -> L (in CFH deficiency; with membranoproliferative glomerulonephritis).	Sushi 2.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.380G>A		.	.	.	.	.	.	.	.	.	.	G	16.52	3.146245	0.57044	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.65549	-0.16;-0.16;-0.16	5.5	5.5	0.81552	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	D	0.83505	0.5269	H	0.96805	3.885	0.35188	D	0.773088	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.993;0.998	D	0.86561	0.1841	9	0.07482	T	0.82	.	14.9068	0.70727	0.0:0.0:1.0:0.0	.	127;127;127;127	Q5TFM2;P08603-2;P08603;F8WDX4	.;.;CFAH_HUMAN;.	H	127	ENSP00000356399:R127H;ENSP00000402656:R127H;ENSP00000352658:R127H	ENSP00000352658:R127H	R	+	2	0	CFH	194911771	1.000000	0.71417	0.799000	0.32177	0.908000	0.53690	6.152000	0.71812	2.585000	0.87301	0.462000	0.41574	CGT		0.308	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		38	53	0	0	0	1	0	38	53				
PAIP1	10605	broad.mit.edu	37	5	43535001	43535001	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:43535001G>A	ENST00000306846.3	-	8	1383	c.1151C>T	c.(1150-1152)tCa>tTa	p.S384L	PAIP1_ENST00000436644.2_Missense_Mutation_p.S305L|PAIP1_ENST00000514514.1_Missense_Mutation_p.S305L|PAIP1_ENST00000338972.4_Missense_Mutation_p.S272L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	384					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCTATATGTTGAAGTTGCATG	0.368																																						ENST00000306846.3																			0				endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						c.(1150-1152)tCa>tTa		poly(A) binding protein interacting protein 1							104.0	99.0	101.0					5																	43535001		2203	4300	6503	SO:0001583	missense	10605				mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity	g.chr5:43535001G>A	AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1151C>T	5.37:g.43535001G>A	ENSP00000302768:p.Ser384Leu					PAIP1_ENST00000436644.2_Missense_Mutation_p.S305L|PAIP1_ENST00000514514.1_Missense_Mutation_p.S305L|PAIP1_ENST00000338972.4_Missense_Mutation_p.S272L	p.S384L	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN			8	1383	-	Lung NSC(6;2.07e-05)		384					A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	c.1151C>T	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263771	0.59431	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514	T;T;T;T	0.34275	1.37;1.39;1.4;1.41	5.61	4.73	0.59995	.	0.203569	0.42294	D	0.000739	T	0.32194	0.0821	L	0.43152	1.355	0.49915	D	0.99983	B;B;B	0.22003	0.047;0.063;0.058	B;B;B	0.25291	0.016;0.039;0.059	T	0.08207	-1.0733	10	0.41790	T	0.15	-7.6025	12.9222	0.58239	0.0782:0.0:0.9218:0.0	.	305;384;305	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	L	384;305;272;305	ENSP00000302768:S384L;ENSP00000387729:S305L;ENSP00000339622:S272L;ENSP00000425084:S305L	ENSP00000302768:S384L	S	-	2	0	PAIP1	43570758	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.084000	0.76866	2.646000	0.89796	0.585000	0.79938	TCA		0.368	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1	NM_006451		6	51	0	0	0	1	0	6	51				
LSM11	134353	broad.mit.edu	37	5	157182115	157182115	+	Missense_Mutation	SNP	T	T	A	rs369707196		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:157182115T>A	ENST00000286307.5	+	4	982	c.926T>A	c.(925-927)gTg>gAg	p.V309E		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	309					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCTCCAGTGTGGGAGGTACC	0.572																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(925-927)gTg>gAg		LSM11, U7 small nuclear RNA associated							68.0	67.0	67.0					5																	157182115		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157182115T>A	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.926T>A	5.37:g.157182115T>A	ENSP00000286307:p.Val309Glu						p.V309E	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		4	982	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	309					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.926T>A	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	13.66	2.304612	0.40795	.	.	ENSG00000155858	ENST00000286307	.	.	.	5.52	1.32	0.21799	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.658399	0.15391	N	0.264808	T	0.16727	0.0402	N	0.08118	0	0.26051	N	0.98149	B	0.13145	0.007	B	0.12837	0.008	T	0.15896	-1.0421	9	0.56958	D	0.05	0.0077	4.8633	0.13594	0.0:0.5548:0.1833:0.2619	.	309	P83369	LSM11_HUMAN	E	309	.	ENSP00000286307:V309E	V	+	2	0	LSM11	157114693	0.024000	0.19004	0.790000	0.31976	0.963000	0.63663	-0.061000	0.11693	-0.054000	0.13266	0.533000	0.62120	GTG		0.572	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		38	50	0	0	0	1	0	38	50				
CHST15	51363	broad.mit.edu	37	10	125769796	125769796	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr10:125769796G>A	ENST00000346248.5	-	8	2197	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C	CHST15_ENST00000435907.1_Missense_Mutation_p.R519C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	519					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hexose biosynthetic process (GO:0019319)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCTCGGGACGCCGTGCATTG	0.587																																						ENST00000346248.5																			0				endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						c.(1555-1557)Cgt>Tgt		carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15							36.0	39.0	38.0					10																	125769796		2203	4300	6503	SO:0001583	missense	51363				hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity	g.chr10:125769796G>A	AB011170	CCDS7638.1	10q26	2009-07-09			ENSG00000182022	ENSG00000182022	2.8.2.33	"""Sulfotransferases, membrane-bound"""	18137	protein-coding gene	gene with protein product	"""B cell RAG associated protein"", ""N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase"""	608277				9628581, 9754571, 11572857	Standard	NM_014863		Approved	GALNAC4S-6ST, BRAG, KIAA0598	uc001lhm.4	Q7LFX5	OTTHUMG00000019208	ENST00000346248.5:c.1555C>T	10.37:g.125769796G>A	ENSP00000333947:p.Arg519Cys					CHST15_ENST00000435907.1_Missense_Mutation_p.R519C	p.R519C	NM_001270764.1|NM_015892.3	NP_001257693.1|NP_056976.2	Q7LFX5	CHSTF_HUMAN			8	2197	-			519					O60338|O60474|Q86VM4	Missense_Mutation	SNP	ENST00000346248.5	37	c.1555C>T	CCDS7638.1	.	.	.	.	.	.	.	.	.	.	G	18.82	3.704970	0.68615	.	.	ENSG00000182022	ENST00000346248;ENST00000435907	T;T	0.56611	0.45;0.45	5.38	4.46	0.54185	.	0.000000	0.85682	D	0.000000	T	0.68988	0.3061	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.72629	-0.4235	10	0.87932	D	0	-20.7884	14.2633	0.66099	0.0:0.0:0.6484:0.3516	.	519	Q7LFX5	CHSTF_HUMAN	C	519	ENSP00000333947:R519C;ENSP00000402394:R519C	ENSP00000333947:R519C	R	-	1	0	CHST15	125759786	1.000000	0.71417	0.956000	0.39512	0.931000	0.56810	1.347000	0.33975	1.240000	0.43803	0.558000	0.71614	CGT		0.587	CHST15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050856.1	NM_015892		15	14	0	0	0	1	0	15	14				
TRIM49C	642612	broad.mit.edu	37	11	89774252	89774252	+	Missense_Mutation	SNP	G	G	A	rs201409537		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr11:89774252G>A	ENST00000448984.1	+	8	1222	c.893G>A	c.(892-894)aGt>aAt	p.S298N	TRIM49C_ENST00000432771.1_Intron	NM_001195234.1	NP_001182163.1	P0CI26	TR49C_HUMAN	tripartite motif containing 49C	298	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.S298N(4)		endometrium(3)|kidney(1)|lung(4)	8						GAAGCCAACAGTGATATCTTT	0.323																																						ENST00000448984.1																			4	Substitution - Missense(4)	p.S298N(4)	endometrium(2)|kidney(2)	endometrium(3)|kidney(1)|lung(4)	8						c.(892-894)aGt>aAt		tripartite motif containing 49C																																				SO:0001583	missense	642612					intracellular	zinc ion binding	g.chr11:89774252G>A	BC126470	CCDS53694.1	11q14.3	2014-02-17	2012-05-18	2012-05-18	ENSG00000204449	ENSG00000204449		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	38877	protein-coding gene	gene with protein product			"""tripartite motif containing 49-like 2"""	TRIM49L2			Standard	NM_001195234		Approved		uc010rua.2	P0CI26		ENST00000448984.1:c.893G>A	11.37:g.89774252G>A	ENSP00000388299:p.Ser298Asn					TRIM49C_ENST00000432771.1_Intron	p.S298N	NM_001195234.1	NP_001182163.1	P0CI26	T49L2_HUMAN			8	1222	+			298			B30.2/SPRY.		A0AVR7|A0AVR9|Q6DJV1|Q9NS80	Missense_Mutation	SNP	ENST00000448984.1	37	c.893G>A	CCDS53694.1	.	.	.	.	.	.	.	.	.	.	g	0.625	-0.819420	0.02776	.	.	ENSG00000204449	ENST00000448984	T	0.04809	3.55	0.823	-0.634	0.11516	Concanavalin A-like lectin/glucanase (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	.	.	.	.	T	0.04452	0.0122	L	0.52206	1.635	0.09310	N	1	B	0.12013	0.005	B	0.14023	0.01	T	0.43605	-0.9381	8	.	.	.	.	3.2016	0.06651	0.4432:0.0:0.5568:0.0	rs672762;rs9666958;rs16912727;rs672762	298	P0CI26	T49L2_HUMAN	N	298	ENSP00000388299:S298N	.	S	+	2	0	TRIM49L2	89413900	0.000000	0.05858	0.001000	0.08648	0.034000	0.12701	-1.058000	0.03482	-0.239000	0.09710	0.305000	0.20034	AGT		0.323	TRIM49C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395455.1	NM_001195234		3	42	0	0	0	1	0	3	42				
MTUS2	23281	broad.mit.edu	37	13	29855976	29855976	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr13:29855976C>T	ENST00000431530.3	+	4	2868	c.2810C>T	c.(2809-2811)gCg>gTg	p.A937V		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	927	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTACTTCCAGCGCCAAAATCC	0.557																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(2809-2811)gCg>gTg		microtubule associated tumor suppressor candidate 2							54.0	55.0	55.0					13																	29855976		1858	4104	5962	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29855976C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.2810C>T	13.37:g.29855976C>T	ENSP00000392057:p.Ala937Val						p.A937V	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			4	2868	+			927			Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.		A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.2810C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.325924	0.81580	.	.	ENSG00000132938	ENST00000431530	T	0.16597	2.33	4.72	4.72	0.59763	.	0.087739	0.45867	D	0.000334	T	0.36496	0.0969	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.01909	-1.1249	9	.	.	.	.	17.2062	0.86918	0.0:1.0:0.0:0.0	.	927	Q5JR59	MTUS2_HUMAN	V	937	ENSP00000392057:A937V	.	A	+	2	0	MTUS2	28753976	0.995000	0.38212	0.456000	0.27044	0.986000	0.74619	4.572000	0.60886	2.610000	0.88304	0.655000	0.94253	GCG		0.557	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		8	105	0	0	0	1	0	8	105				
GPR126	57211	broad.mit.edu	37	6	142764556	142764556	+	3'UTR	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr6:142764556C>T	ENST00000230173.6	+	0	4179				GPR126_ENST00000296932.8_3'UTR|GPR126_ENST00000367608.2_Silent_p.V1191V|GPR126_ENST00000367609.3_Silent_p.V1219V	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TCCATCAGGTCATTGATAAGG	0.403																																						ENST00000367609.3																			0				cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						c.(3655-3657)gtC>gtT		G protein-coupled receptor 126							184.0	174.0	177.0					6																	142764556		1939	4154	6093	SO:0001624	3_prime_UTR_variant	57211				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:142764556C>T	AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.*37C>T	6.37:g.142764556C>T						GPR126_ENST00000230173.6_3'UTR|GPR126_ENST00000367608.2_Silent_p.V1191V|GPR126_ENST00000296932.8_3'UTR	p.V1219V	NM_198569.2	NP_940971.1	Q86SQ4	GP126_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)	25	4058	+	Breast(32;0.176)		0					Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Silent	SNP	ENST00000230173.6	37	c.3657C>T	CCDS47490.1																																																																																				0.403	GPR126-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042487.2			8	86	0	0	0	1	0	8	86				
PCID2	55795	broad.mit.edu	37	13	113834493	113834493	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr13:113834493G>A	ENST00000337344.4	-	11	915	c.839C>T	c.(838-840)gCg>gTg	p.A280V	PCID2_ENST00000375457.2_Missense_Mutation_p.A278V|PCID2_ENST00000375479.2_Missense_Mutation_p.A280V|PCID2_ENST00000246505.5_Missense_Mutation_p.A334V|PCID2_ENST00000375477.1_Missense_Mutation_p.A280V|PCID2_ENST00000375459.1_Missense_Mutation_p.A278V|PCID2_ENST00000493650.1_5'UTR	NM_001127202.2	NP_001120674.1	Q5JVF3	PCID2_HUMAN	PCI domain containing 2	280	PCI.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mRNA stability (GO:0043488)|spleen development (GO:0048536)			p.A334V(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GGTTACTTCCGCAAACTGCAT	0.433																																						ENST00000375457.2																			1	Substitution - Missense(1)	p.A334V(1)	large_intestine(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20						c.(832-834)gCg>gTg		PCI domain containing 2							136.0	130.0	132.0					13																	113834493		2203	4300	6503	SO:0001583	missense	55795				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding	g.chr13:113834493G>A	AK002167	CCDS9532.2, CCDS58301.1, CCDS58302.1	13q34	2006-03-31			ENSG00000126226	ENSG00000126226			25653	protein-coding gene	gene with protein product		613713				12477932	Standard	NM_001127203		Approved	FLJ11305	uc031qnm.1	Q5JVF3	OTTHUMG00000017385	ENST00000337344.4:c.839C>T	13.37:g.113834493G>A	ENSP00000337405:p.Ala280Val					PCID2_ENST00000375477.1_Missense_Mutation_p.A280V|PCID2_ENST00000493650.1_5'UTR|PCID2_ENST00000351317.3_Missense_Mutation_p.A257V|PCID2_ENST00000375479.2_Missense_Mutation_p.A280V|PCID2_ENST00000246505.5_Missense_Mutation_p.A334V|PCID2_ENST00000375459.1_Missense_Mutation_p.A278V|PCID2_ENST00000337344.4_Missense_Mutation_p.A280V	p.A278V	NM_001258213.1	NP_001245142.1	Q5JVF3	PCID2_HUMAN	all cancers(43;0.104)		11	1429	-	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	280			PCI.		A6NK09|Q3ZCX1|Q5TC57|Q5TC58|Q9H7K1|Q9HBZ7|Q9NUK6|Q9NVY1|Q9NW44|Q9NWH3	Missense_Mutation	SNP	ENST00000337344.4	37	c.833C>T	CCDS9532.2	.	.	.	.	.	.	.	.	.	.	G	13.35	2.210880	0.39102	.	.	ENSG00000126226	ENST00000337344;ENST00000375479;ENST00000375477;ENST00000246505;ENST00000375459;ENST00000375457;ENST00000375462;ENST00000246506;ENST00000351317	T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.76	5.76	0.90799	PCI/PINT associated module (1);Proteasome component (PCI) domain (1);	0.252743	0.39083	N	0.001474	T	0.21674	0.0522	L	0.33485	1.01	0.80722	D	1	P;B	0.39131	0.661;0.092	B;B	0.25759	0.063;0.044	T	0.05419	-1.0886	10	0.15952	T	0.53	-4.5929	19.9732	0.97292	0.0:0.0:1.0:0.0	.	334;280	Q5JVF3-4;Q5JVF3	.;PCID2_HUMAN	V	280;280;280;334;278;278;257;280;257	ENSP00000337405:A280V;ENSP00000364628:A280V;ENSP00000364626:A280V;ENSP00000246505:A334V;ENSP00000364608:A278V;ENSP00000364606:A278V;ENSP00000327335:A257V	ENSP00000246505:A334V	A	-	2	0	PCID2	112882494	1.000000	0.71417	0.911000	0.35937	0.146000	0.21551	9.375000	0.97178	2.725000	0.93324	0.655000	0.94253	GCG		0.433	PCID2-002	KNOWN	alternative_3_UTR|non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045897.1	NM_018386		4	93	0	0	0	1	0	4	93				
TRIM51HP	440041	broad.mit.edu	37	11	55065705	55065705	+	RNA	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr11:55065705G>A	ENST00000526016.1	-	0	3					NR_038174.2				tripartite motif-containing 51H, pseudogene																		GATGGGACAGGTGAGTTCCCT	0.483																																						ENST00000526016.1																			0																																																			440041							g.chr11:55065705G>A			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065705G>A								NR_038174.2						0	3	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.483	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			4	49	0	0	0	1	0	4	49				
NCDN	23154	broad.mit.edu	37	1	36030915	36030915	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:36030915G>A	ENST00000373243.2	+	7	2224	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	NCDN_ENST00000356090.4_Missense_Mutation_p.G614D|NCDN_ENST00000373253.3_Missense_Mutation_p.G597D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	614					bone resorption (GO:0045453)|neuron projection development (GO:0031175)|regulation of neuronal synaptic plasticity (GO:0048168)	cytosol (GO:0005829)|dendrite (GO:0030425)|membrane (GO:0016020)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCACCCCGGGCTCAGACCAG	0.637																																						ENST00000373243.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16						c.(1840-1842)gGc>gAc		neurochondrin							90.0	93.0	92.0					1																	36030915		2203	4300	6503	SO:0001583	missense	23154				neuron projection development	cytosol|dendrite|neuronal cell body		g.chr1:36030915G>A	AB011179	CCDS392.1, CCDS30672.1	1p34.3	2008-02-05			ENSG00000020129	ENSG00000020129			17597	protein-coding gene	gene with protein product		608458				15007648	Standard	NM_014284		Approved	NCDN-1, NCDN-2	uc001bza.3	Q9UBB6	OTTHUMG00000059204	ENST00000373243.2:c.1841G>A	1.37:g.36030915G>A	ENSP00000362340:p.Gly614Asp					NCDN_ENST00000373253.3_Missense_Mutation_p.G597D|NCDN_ENST00000356090.4_Missense_Mutation_p.G614D	p.G614D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN			7	2224	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)	614					D3DPR9|Q9UBY2|Q9Y4A6|Q9Y4D9	Missense_Mutation	SNP	ENST00000373243.2	37	c.1841G>A	CCDS392.1	.	.	.	.	.	.	.	.	.	.	G	11.56	1.675319	0.29783	.	.	ENSG00000020129	ENST00000373253;ENST00000356090;ENST00000373243;ENST00000397922	.	.	.	5.1	5.1	0.69264	.	0.057376	0.64402	D	0.000001	T	0.25419	0.0618	N	0.03115	-0.41	0.47778	D	0.999511	B	0.18610	0.029	B	0.18561	0.022	T	0.17471	-1.0368	9	0.07482	T	0.82	.	11.0573	0.47927	0.0849:0.0:0.9151:0.0	.	614	Q9UBB6	NCDN_HUMAN	D	597;614;614;39	.	ENSP00000348394:G614D	G	+	2	0	NCDN	35803502	0.979000	0.34478	0.999000	0.59377	0.938000	0.57974	2.573000	0.46007	2.387000	0.81309	0.563000	0.77884	GGC		0.637	NCDN-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131298.1	NM_014284		6	73	0	0	0	1	0	6	73				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	75	0	0	0	1	0	4	75				
ZNF799	90576	broad.mit.edu	37	19	12501827	12501827	+	Missense_Mutation	SNP	G	G	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:12501827G>T	ENST00000430385.3	-	4	1585	c.1385C>A	c.(1384-1386)tCc>tAc	p.S462Y	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.S430Y	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATTTTGAAAGGAATAGAAATC	0.388																																						ENST00000419318.1																			0				breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						c.(1288-1290)tCc>tAc		zinc finger protein 799							70.0	75.0	73.0					19																	12501827		2201	4299	6500	SO:0001583	missense	90576				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12501827G>T	BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.1385C>A	19.37:g.12501827G>T	ENSP00000411084:p.Ser462Tyr					CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.S462Y	p.S430Y			Q96GE5	ZN799_HUMAN			4	2038	-			462						Missense_Mutation	SNP	ENST00000430385.3	37	c.1289C>A	CCDS45989.1	.	.	.	.	.	.	.	.	.	.	G	7.868	0.727500	0.15439	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.16073	2.37;2.37	1.31	-2.61	0.06171	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20536	0.0494	L	0.41236	1.265	0.09310	N	1	D	0.76494	0.999	D	0.73708	0.981	T	0.11251	-1.0595	9	0.06891	T	0.86	.	5.3321	0.15938	0.0:0.381:0.4174:0.2016	.	462	Q96GE5	ZN799_HUMAN	Y	430;462	ENSP00000415278:S430Y;ENSP00000411084:S462Y	ENSP00000415278:S430Y	S	-	2	0	ZNF799	12362827	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-5.448000	0.00121	-1.071000	0.03145	0.430000	0.28490	TCC		0.388	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344099.2	NM_001080821		6	125	1	0	3.59834e-05	1	3.6749e-05	6	125				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		5	109	0	0	0	1	0	5	109				
MAGEA12	4111	broad.mit.edu	37	X	151900045	151900045	+	Silent	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chrX:151900045C>T	ENST00000357916.4	-	2	911	c.756G>A	c.(754-756)caG>caA	p.Q252Q	MAGEA12_ENST00000393869.3_Silent_p.Q252Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393900.3_Silent_p.Q252Q	NM_005367.5	NP_005358.2	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	252	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTAGTTTTCCTGCACCAAAT	0.557																																						ENST00000393900.3																			0				breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(754-756)caG>caA		melanoma antigen family A, 12							148.0	144.0	145.0					X																	151900045		2203	4300	6503	SO:0001819	synonymous_variant	4111							g.chrX:151900045C>T		CCDS76048.1	Xq28	2009-03-13			ENSG00000213401	ENSG00000213401			6799	protein-coding gene	gene with protein product	"""cancer/testis antigen family 1, member 12"""	300177		MAGE12		8575766	Standard	NM_001166386		Approved	CT1.12	uc004fgc.3	P43365	OTTHUMG00000022650	ENST00000357916.4:c.756G>A	X.37:g.151900045C>T						MAGEA12_ENST00000357916.4_Silent_p.Q252Q|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000393869.3_Silent_p.Q252Q	p.Q252Q	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN			3	1109	-	Acute lymphoblastic leukemia(192;6.56e-05)		252			MAGE.		Q9NSD3	Silent	SNP	ENST00000357916.4	37	c.756G>A	CCDS14710.1																																																																																				0.557	MAGEA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058764.1	NM_005367		120	48	0	0	0	1	0	120	48				
ARAP3	64411	broad.mit.edu	37	5	141053009	141053009	+	Nonsense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr5:141053009G>A	ENST00000239440.4	-	6	996	c.931C>T	c.(931-933)Cag>Tag	p.Q311*	ARAP3_ENST00000513878.1_5'Flank|ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q233*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	311	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCATTGAACTGCACAAAGCGT	0.547																																						ENST00000239440.4																			0				NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(931-933)Cag>Tag		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							105.0	101.0	102.0					5																	141053009		2203	4300	6503	SO:0001587	stop_gained	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141053009G>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.931C>T	5.37:g.141053009G>A	ENSP00000239440:p.Gln311*					ARAP3_ENST00000508305.1_Nonsense_Mutation_p.Q233*	p.Q311*	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			6	996	-			311			PH 1.		B4DIT1|D3DQE3	Nonsense_Mutation	SNP	ENST00000239440.4	37	c.931C>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	G	39	7.359481	0.98235	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000504448	.	.	.	5.21	4.25	0.50352	.	0.377447	0.25636	N	0.029302	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1293	0.42669	0.0:0.0:0.6064:0.3936	.	.	.	.	X	230;233;311;311	.	ENSP00000239440:Q311X	Q	-	1	0	ARAP3	141033193	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.755000	0.62198	2.417000	0.82017	0.557000	0.71058	CAG		0.547	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481		24	43	0	0	0	1	0	24	43				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	57	0	0	0	1	0	3	57				
CSH2	1443	broad.mit.edu	37	17	61950686	61950686	+	Silent	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr17:61950686G>A	ENST00000392886.2	-	2	175	c.24C>T	c.(22-24)tcC>tcT	p.S8S	CSH2_ENST00000345366.7_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S|CSH2_ENST00000336844.5_Silent_p.S8S	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	8						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGGAGCAGGGACGTCCGGG	0.607																																						ENST00000336844.5																			0				endometrium(2)|large_intestine(1)|lung(3)	6						c.(22-24)tcC>tcT		chorionic somatomammotropin hormone 2							16.0	17.0	17.0					17																	61950686		2200	4293	6493	SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950686G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.24C>T	17.37:g.61950686G>A						CSH2_ENST00000392886.2_Silent_p.S8S|CSH2_ENST00000345366.7_Silent_p.S8S|CSH2_ENST00000560142.1_Silent_p.S8S	p.S8S	NM_022644.3	NP_072170.1	P01243	CSH_HUMAN			2	175	-			8					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.24C>T	CCDS42369.1																																																																																				0.607	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991		15	67	0	0	0	1	0	15	67				
EDN1	1906	broad.mit.edu	37	6	12290895	12290895	+	Silent	SNP	G	G	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr6:12290895G>T	ENST00000379375.5	+	1	300	c.33G>T	c.(31-33)ctG>ctT	p.L11L		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	11					artery smooth muscle contraction (GO:0014824)|body fluid secretion (GO:0007589)|calcium-mediated signaling (GO:0019722)|cartilage development (GO:0051216)|cell growth (GO:0016049)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|dorsal/ventral pattern formation (GO:0009953)|epithelial fluid transport (GO:0042045)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose transport (GO:0015758)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|inositol phosphate-mediated signaling (GO:0048016)|leukocyte activation (GO:0045321)|maternal process involved in parturition (GO:0060137)|membrane depolarization (GO:0051899)|middle ear morphogenesis (GO:0042474)|multicellular organismal aging (GO:0010259)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of hormone secretion (GO:0046888)|negative regulation of nitric-oxide synthase biosynthetic process (GO:0051771)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell development (GO:0014032)|nitric oxide transport (GO:0030185)|patterning of blood vessels (GO:0001569)|peptide hormone secretion (GO:0030072)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phospholipase D-activating G-protein coupled receptor signaling pathway (GO:0031583)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of heart rate (GO:0010460)|positive regulation of hormone secretion (GO:0046887)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of odontogenesis (GO:0042482)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of urine volume (GO:0035810)|prostaglandin biosynthetic process (GO:0001516)|protein kinase C deactivation (GO:0042313)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|respiratory gaseous exchange (GO:0007585)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nicotine (GO:0035094)|response to testosterone (GO:0033574)|rhythmic excitation (GO:0043179)|sensory perception of pain (GO:0019233)|superoxide anion generation (GO:0042554)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|endothelin A receptor binding (GO:0031707)|endothelin B receptor binding (GO:0031708)|hormone activity (GO:0005179)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TCTCTCTGCTGTTTGTGGCTT	0.418											OREG0017197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000379375.5																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(31-33)ctG>ctT		endothelin 1							109.0	100.0	103.0					6																	12290895		2203	4300	6503	SO:0001819	synonymous_variant	1906				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	g.chr6:12290895G>T	S56805	CCDS4522.1	6p24.1	2014-03-19			ENSG00000078401	ENSG00000078401		"""Endogenous ligands"""	3176	protein-coding gene	gene with protein product		131240					Standard	NM_001168319		Approved	ET1	uc003nae.4	P05305	OTTHUMG00000014266	ENST00000379375.5:c.33G>T	6.37:g.12290895G>T			OREG0017197	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	678		p.L11L	NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN			1	300	+	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)	11					Q96DA1	Silent	SNP	ENST00000379375.5	37	c.33G>T	CCDS4522.1																																																																																				0.418	EDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039872.1	NM_001955		3	45	1	0	0.115264	1	0.115264	3	45				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000464581.1_5'Flank			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382578.1_Silent_p.S281S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		3	55	0	0	0	1	0	3	55				
HS3ST1	9957	broad.mit.edu	37	4	11401091	11401091	+	Missense_Mutation	SNP	C	C	T	rs376079538		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr4:11401091C>T	ENST00000002596.5	-	2	1713	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	180					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)|sulfotransferase activity (GO:0008146)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CCTGCCATCGCGCACCAGGAA	0.592																																						ENST00000002596.5																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						c.(538-540)cGc>cAc		heparan sulfate (glucosamine) 3-O-sulfotransferase 1		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	76.0	79.0		539	4.5	1.0	4		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	HS3ST1	NM_005114.2	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign	180/308	11401091	2,13004	2203	4300	6503	SO:0001583	missense	9957					Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr4:11401091C>T	AF019386	CCDS3408.1	4p16	2008-02-05			ENSG00000002587	ENSG00000002587	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5194	protein-coding gene	gene with protein product		603244				9988767	Standard	NM_005114		Approved	3OST1	uc003gmq.3	O14792	OTTHUMG00000090547	ENST00000002596.5:c.539G>A	4.37:g.11401091C>T	ENSP00000002596:p.Arg180His						p.R180H	NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN			2	1713	-			180					B3KUA6|Q6PEY8	Missense_Mutation	SNP	ENST00000002596.5	37	c.539G>A	CCDS3408.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.688388	0.48097	2.27E-4	1.16E-4	ENSG00000002587	ENST00000002596	D	0.82167	-1.58	5.61	4.54	0.55810	Sulfotransferase domain (1);	0.304563	0.25645	N	0.029247	T	0.72930	0.3522	L	0.46819	1.47	0.39509	D	0.968339	B	0.27264	0.173	B	0.17433	0.018	T	0.71731	-0.4504	10	0.51188	T	0.08	.	4.6962	0.12804	0.0:0.7316:0.0:0.2684	.	180	O14792	HS3S1_HUMAN	H	180	ENSP00000002596:R180H	ENSP00000002596:R180H	R	-	2	0	HS3ST1	11010189	1.000000	0.71417	0.976000	0.42696	0.917000	0.54804	4.173000	0.58249	2.793000	0.96121	0.655000	0.94253	CGC		0.592	HS3ST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207073.3	NM_005114		40	53	0	0	0	1	0	40	53				
OR5H6	79295	broad.mit.edu	37	3	97983244	97983244	+	Missense_Mutation	SNP	G	G	C			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr3:97983244G>C	ENST00000383696.2	+	1	157	c.116G>C	c.(115-117)tGt>tCt	p.C39S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	39						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C39Y(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAACCTGACTGTAAAATACCG	0.413																																						ENST00000383696.2																			1	Substitution - Missense(1)	p.C39Y(1)	large_intestine(1)	cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(115-117)tGt>tCt		olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)							190.0	195.0	193.0					3																	97983244		2203	4299	6502	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983244G>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.116G>C	3.37:g.97983244G>C	ENSP00000373196:p.Cys39Ser					RP11-325B23.2_ENST00000508616.1_lincRNA	p.C39S	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN			1	157	+			39					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.116G>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	6.812	0.518864	0.13005	.	.	ENSG00000230301	ENST00000383696	T	0.01323	5.01	2.19	-0.213	0.13165	.	0.622484	0.13047	N	0.418024	T	0.00580	0.0019	N	0.00483	-1.445	0.09310	N	1	B	0.16802	0.019	B	0.19946	0.027	T	0.47736	-0.9094	10	0.87932	D	0	.	7.0675	0.25159	0.0:0.0:0.359:0.6409	.	39	Q8NGV6	OR5H6_HUMAN	S	39	ENSP00000373196:C39S	ENSP00000373196:C39S	C	+	2	0	OR5H6	99465934	0.000000	0.05858	0.002000	0.10522	0.003000	0.03518	0.634000	0.24614	0.233000	0.21120	0.194000	0.17425	TGT		0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2			6	135	0	0	0	1	0	6	135				
CRNN	49860	broad.mit.edu	37	1	152382519	152382519	+	Missense_Mutation	SNP	T	T	C			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr1:152382519T>C	ENST00000271835.3	-	3	1101	c.1039A>G	c.(1039-1041)Act>Gct	p.T347A	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	347	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTATCTGAGTGTGTCCTCCT	0.592																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1039-1041)Act>Gct		cornulin							234.0	198.0	210.0					1																	152382519		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382519T>C	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.1039A>G	1.37:g.152382519T>C	ENSP00000271835:p.Thr347Ala					RP1-91G5.3_ENST00000411804.1_RNA	p.T347A	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1101	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		347			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.1039A>G	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	T	2.400	-0.337775	0.05278	.	.	ENSG00000143536	ENST00000271835	T	0.04119	3.7	4.83	-9.65	0.00537	.	3.275770	0.00559	N	0.000263	T	0.00468	0.0015	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.41556	-0.9502	10	0.13853	T	0.58	.	4.7627	0.13116	0.1864:0.4725:0.0905:0.2506	.	347	Q9UBG3	CRNN_HUMAN	A	347	ENSP00000271835:T347A	ENSP00000271835:T347A	T	-	1	0	CRNN	150649143	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.505000	0.00448	-2.995000	0.00278	-1.994000	0.00447	ACT		0.592	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		4	234	0	0	0	1	0	4	234				
MRPL16	54948	broad.mit.edu	37	11	59575194	59575194	+	Missense_Mutation	SNP	C	C	T			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr11:59575194C>T	ENST00000300151.4	-	3	463	c.250G>A	c.(250-252)Gaa>Aaa	p.E84K		NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN	mitochondrial ribosomal protein L16	84					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						AAATTGCCTTCTGTAAACTCC	0.398																																						ENST00000300151.4																			0				central_nervous_system(1)|endometrium(1)|liver(1)|lung(8)	11						c.(250-252)Gaa>Aaa		mitochondrial ribosomal protein L16							270.0	283.0	279.0					11																	59575194		2201	4295	6496	SO:0001583	missense	54948						rRNA binding	g.chr11:59575194C>T	AF183428	CCDS7976.1	11q12.1	2012-09-13			ENSG00000166902	ENSG00000166902		"""Mitochondrial ribosomal proteins / large subunits"""	14476	protein-coding gene	gene with protein product		611829					Standard	NM_017840		Approved	FLJ20484, PNAS-111	uc001noh.2	Q9NX20	OTTHUMG00000167410	ENST00000300151.4:c.250G>A	11.37:g.59575194C>T	ENSP00000300151:p.Glu84Lys						p.E84K	NM_017840.3	NP_060310.1	Q9NX20	RM16_HUMAN			3	463	-			84					Q9BYD0|Q9HB70	Missense_Mutation	SNP	ENST00000300151.4	37	c.250G>A	CCDS7976.1	.	.	.	.	.	.	.	.	.	.	C	17.45	3.393319	0.62066	.	.	ENSG00000166902	ENST00000300151	T	0.22539	1.95	5.93	5.93	0.95920	Ribosomal protein L10e/L16 (2);	0.301944	0.40728	N	0.001025	T	0.15565	0.0375	N	0.16066	0.365	0.42936	D	0.994332	B	0.22146	0.065	B	0.24974	0.057	T	0.06481	-1.0824	10	0.44086	T	0.13	-21.127	15.8312	0.78752	0.0:1.0:0.0:0.0	.	84	Q9NX20	RM16_HUMAN	K	84	ENSP00000300151:E84K	ENSP00000300151:E84K	E	-	1	0	MRPL16	59331770	0.955000	0.32602	1.000000	0.80357	0.988000	0.76386	0.516000	0.22817	2.803000	0.96430	0.650000	0.86243	GAA		0.398	MRPL16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394521.1	NM_017840		4	214	0	0	0	1	0	4	214				
SHB	6461	broad.mit.edu	37	9	37974712	37974712	+	Missense_Mutation	SNP	G	G	A			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr9:37974712G>A	ENST00000377707.3	-	3	1526	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	RP11-613M10.9_ENST00000540557.1_3'UTR	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	321	Mediates interaction with LAT, PTK2/FAK1, JAK1 and JAK3.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TTGCTCTCCCGCAGTCGGGGG	0.597																																						ENST00000377707.3																			0				central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11						c.(961-963)Cgg>Tgg		Src homology 2 domain containing adaptor protein B							73.0	82.0	79.0					9																	37974712		2057	4184	6241	SO:0001583	missense	6461				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity	g.chr9:37974712G>A		CCDS43806.1	9p13.2	2013-09-23	2005-05-24		ENSG00000107338	ENSG00000107338		"""SH2 domain containing"""	10838	protein-coding gene	gene with protein product		600314	"""SHB adaptor protein (a Src homology 2 protein)"", ""SHB (Src homology 2 domain containing) adaptor protein B"""			7713524	Standard	NM_003028		Approved		uc004aax.3	Q15464	OTTHUMG00000019936	ENST00000377707.3:c.961C>T	9.37:g.37974712G>A	ENSP00000366936:p.Arg321Trp					RP11-613M10.9_ENST00000540557.1_3'UTR	p.R321W	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)	3	1526	-		all_epithelial(88;0.122)	321			Mediates interaction with LAT, FAK1, JAK1 and JAK3.		B9EGM0|D3DRQ5|Q504U5|Q5VUM8	Missense_Mutation	SNP	ENST00000377707.3	37	c.961C>T	CCDS43806.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726818	0.69074	.	.	ENSG00000107338	ENST00000377707	T	0.31510	1.49	5.55	3.64	0.41730	.	0.000000	0.52532	D	0.000076	T	0.49966	0.1588	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.50145	-0.8862	10	0.87932	D	0	-17.2451	12.8611	0.57913	0.0:0.0:0.7393:0.2607	.	321	Q15464	SHB_HUMAN	W	321	ENSP00000366936:R321W	ENSP00000366936:R321W	R	-	1	2	SHB	37964712	1.000000	0.71417	0.967000	0.41034	0.993000	0.82548	5.003000	0.63959	0.648000	0.30732	0.563000	0.77884	CGG		0.597	SHB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052490.1			46	71	0	0	0	1	0	46	71				
GP2	2813	broad.mit.edu	37	16	20331047	20331047	+	Missense_Mutation	SNP	A	A	G			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:20331047A>G	ENST00000381362.4	-	7	987	c.911T>C	c.(910-912)gTc>gCc	p.V304A	GP2_ENST00000302555.5_Missense_Mutation_p.V301A|GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	304	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAATCATTGACCAAGGAGAG	0.423																																						ENST00000302555.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(901-903)gTc>gCc		glycoprotein 2 (zymogen granule membrane)							449.0	418.0	429.0					16																	20331047		2203	4300	6503	SO:0001583	missense	2813					anchored to membrane|extracellular region|plasma membrane		g.chr16:20331047A>G	U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.911T>C	16.37:g.20331047A>G	ENSP00000370767:p.Val304Ala					GP2_ENST00000573897.1_5'UTR|GP2_ENST00000381360.5_Missense_Mutation_p.V157A|GP2_ENST00000381362.4_Missense_Mutation_p.V304A|GP2_ENST00000341642.5_Missense_Mutation_p.V154A	p.V301A			P55259	GP2_HUMAN			6	1051	-			304			ZP.		A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	ENST00000381362.4	37	c.902T>C	CCDS42128.1	.	.	.	.	.	.	.	.	.	.	A	1.176	-0.639563	0.03557	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46	5.23	-0.144	0.13440	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	.	.	.	.	T	0.53948	0.1828	N	0.03194	-0.395	0.24878	N	0.992248	B;B;B;B	0.16166	0.001;0.016;0.001;0.001	B;B;B;B	0.23716	0.005;0.048;0.003;0.004	T	0.44620	-0.9316	9	0.02654	T	1	-6.6727	9.2908	0.37786	0.529:0.0:0.471:0.0	.	154;282;301;304	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	A	301;304;157;154;282	ENSP00000304044:V301A;ENSP00000370767:V304A;ENSP00000370765:V157A;ENSP00000343861:V154A	ENSP00000304044:V301A	V	-	2	0	GP2	20238548	0.017000	0.18338	0.922000	0.36590	0.670000	0.39368	-0.346000	0.07760	0.049000	0.15920	0.533000	0.62120	GTC		0.423	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295		69	113	0	0	0	1	0	69	113				
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs62464331		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732									GTF2I repeat domain containing 2 pseudogene 1																		cagagtgatttcggatgaatt	0.507																																						ENST00000425256.1																			0																																																			401375							g.chr7:72658179T>C	AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658179T>C								NR_002164.1						0	1732	-									RNA	SNP	ENST00000425256.1	37																																																																																						0.507	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345921.1	NR_002164		4	87	0	0	0	1	0	4	87				
LOC403323	403323	broad.mit.edu	37	9	66545695	66545695	+	lincRNA	DEL	A	A	-	rs368616794|rs199855162|rs56683069		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr9:66545695delA	ENST00000445604.2	-	0	669																											CTGTAAGAGGAAAAAAAAACA	0.373																																						ENST00000445604.2																			0																																																			403323							g.chr9:66545695delA																													9.37:g.66545695delA														0	669	-									RNA	DEL	ENST00000445604.2	37																																																																																						0.373	RP11-262H14.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037074.2			2	4						2	4	---	---	---	---
PTGDR2	11251	broad.mit.edu	37	11	60620167	60620169	+	In_Frame_Del	DEL	GCG	GCG	-			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr11:60620167_60620169delGCG	ENST00000332539.4	-	2	1138_1140	c.1027_1029delCGC	c.(1027-1029)cgcdel	p.R343del	RP11-804A23.4_ENST00000538705.1_RNA	NM_004778.2	NP_004769.2	Q9Y5Y4	PD2R2_HUMAN	prostaglandin D2 receptor 2	343					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|calcium-mediated signaling (GO:0019722)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|prostaglandin D receptor activity (GO:0004956)|prostaglandin F receptor activity (GO:0004958)|prostaglandin J receptor activity (GO:0001785)									Indomethacin(DB00328)|Sulindac(DB00605)	TGGAGGAGGTGCGGCGGCGGCGG	0.749																																						ENST00000332539.4																			0											c.(1027-1029)del		prostaglandin D2 receptor 2				45,28,1843		12,1,20,7,13,905						-2.3	0.6		dbSNP_129	3	24,66,4762		5,0,14,11,44,2352	no	codingComplex	GPR44	NM_004778.2		17,1,34,18,57,3257	A1A1,A1A2,A1R,A2A2,A2R,RR		1.8549,3.81,2.4084				69,94,6605				SO:0001651	inframe_deletion	11251				immune response	integral to plasma membrane	N-formyl peptide receptor activity	g.chr11:60620167_60620169delGCG	AF118265	CCDS7994.1	11q12-q13.3	2012-08-08	2011-11-11	2011-11-11		ENSG00000183134		"""CD molecules"", ""GPCR / Class A : Prostanoid receptors"""	4502	protein-coding gene	gene with protein product	"""chemoattractant receptor homologous molecule expressed on T helper type 2 cells"""	604837	"""G protein-coupled receptor 44"""	GPR44		10036181	Standard	NM_004778		Approved	CRTH2, CD294, DP2	uc001nqc.2	Q9Y5Y4		ENST00000332539.4:c.1027_1029delCGC	11.37:g.60620176_60620178delGCG	ENSP00000332812:p.Arg343del						p.R343del	NM_004778.2	NP_004769.2	Q9Y5Y4	GPR44_HUMAN			2	1138_1140	-			343					O94765|Q4QRI6	In_Frame_Del	DEL	ENST00000332539.4	37	c.1027_1029delCGC	CCDS7994.1																																																																																				0.749	PTGDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396328.1	NM_004778		3	6						3	6	---	---	---	---
SLC24A1	9187	broad.mit.edu	37	15	65918177	65918179	+	In_Frame_Del	DEL	CTG	CTG	-	rs370680044		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr15:65918177_65918179delCTG	ENST00000261892.6	+	2	2046_2048	c.1759_1761delCTG	c.(1759-1761)ctgdel	p.L591del	SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	591					calcium ion transport (GO:0006816)|ion transport (GO:0006811)|phototransduction, visible light (GO:0007603)|response to light intensity (GO:0009642)|rhodopsin mediated signaling pathway (GO:0016056)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|outer membrane (GO:0019867)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GTGGGAGAGCCTGCTGCTGCTGC	0.547																																						ENST00000261892.6																			0				breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1759-1761)del		solute carrier family 24 (sodium/potassium/calcium exchanger), member 1				99,3943		8,83,1930						4.1	1.0			151	234,7914		7,220,3847	no	coding	SLC24A1	NM_004727.2		15,303,5777	A1A1,A1R,RR		2.8719,2.4493,2.7317				333,11857				SO:0001651	inframe_deletion	9187				response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity	g.chr15:65918177_65918179delCTG	AF062922	CCDS45284.1, CCDS73742.1, CCDS73743.1, CCDS73744.1	15q22.31	2014-01-28			ENSG00000074621	ENSG00000074621		"""Solute carriers"""	10975	protein-coding gene	gene with protein product		603617				9856482	Standard	NM_004727		Approved	NCKX1, NCKX, RODX, KIAA0702, HsT17412, CSNB1D	uc010ujf.2	O60721	OTTHUMG00000167960	ENST00000261892.6:c.1759_1761delCTG	15.37:g.65918186_65918188delCTG	ENSP00000261892:p.Leu591del					SLC24A1_ENST00000546330.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000544319.2_In_Frame_Del_p.L591del|SLC24A1_ENST00000537259.1_In_Frame_Del_p.L591del|SLC24A1_ENST00000339868.6_In_Frame_Del_p.L591del|SLC24A1_ENST00000399033.4_In_Frame_Del_p.L591del	p.L591del	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN			2	2046_2048	+			591					O43485|O75184|Q17RM9	In_Frame_Del	DEL	ENST00000261892.6	37	c.1759_1761delCTG	CCDS45284.1																																																																																				0.547	SLC24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397304.1	NM_004727		9	123						9	123	---	---	---	---
NOX5	79400	broad.mit.edu	37	15	69328208	69328210	+	In_Frame_Del	DEL	CTG	CTG	-	rs370141395		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr15:69328208_69328210delCTG	ENST00000388866.3	+	7	1161_1163	c.1120_1122delCTG	c.(1120-1122)ctgdel	p.L380del	NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|RP11-809H16.4_ENST00000559495.1_RNA|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del|NOX5_ENST00000260364.5_In_Frame_Del_p.L362del	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	380	Ferric oxidoreductase.|Poly-Leu.			L -> F (in Ref. 2; BAB84884/BAB84897, 3; BAB15319/BAG37241, 6; EAW77830 and 7; AAI25098/AAI25099). {ECO:0000305}.	angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						AGGTGTCGCTCTGCTGCTGCTGC	0.626																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(1066-1068)del		NADPH oxidase, EF-hand calcium binding domain 5																																				SO:0001651	inframe_deletion	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69328208_69328210delCTG	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.1120_1122delCTG	15.37:g.69328217_69328219delCTG	ENSP00000373518:p.Leu380del					NOX5_ENST00000388866.3_In_Frame_Del_p.L380del|NOX5_ENST00000530406.2_In_Frame_Del_p.L352del|NOX5_ENST00000455873.3_In_Frame_Del_p.L345del|NOX5_ENST00000448182.3_In_Frame_Del_p.L334del	p.L362del			Q96PH1	NOX5_HUMAN			8	1367_1369	+			380			Ferric oxidoreductase.		B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	In_Frame_Del	DEL	ENST00000388866.3	37	c.1066_1068delCTG	CCDS32276.2																																																																																				0.626	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		7	354						7	354	---	---	---	---
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs397827801|rs11353924|rs532713769|rs398078750		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438																																						ENST00000429810.2																			0																																																			0							g.chr16:74372915delT																													16.37:g.74372915delT														0	1404	-									RNA	DEL	ENST00000429810.2	37																																																																																						0.438	RP11-252A24.2-003	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000434683.1			3	3						3	3	---	---	---	---
SLC46A1	113235	broad.mit.edu	37	17	26732355	26732355	+	Frame_Shift_Del	DEL	G	G	-			TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr17:26732355delG	ENST00000440501.1	-	2	455	c.360delC	c.(358-360)gccfs	p.A120fs	SLC46A1_ENST00000321666.5_Frame_Shift_Del_p.A120fs|SLC46A1_ENST00000584729.1_5'UTR|CTD-2350C19.1_ENST00000583956.1_RNA|CTD-2350C19.2_ENST00000580714.1_RNA	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN	solute carrier family 46 (folate transporter), member 1	120					cellular iron ion homeostasis (GO:0006879)|folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|heme transporter activity (GO:0015232)|methotrexate transporter activity (GO:0015350)			lung(5)	5	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Folic Acid(DB00158)|Methotrexate(DB00563)|Sulfasalazine(DB00795)	GGCCCAGCGAGGCCAGCACTA	0.652																																						ENST00000440501.1																			0				lung(5)	5						c.(358-360)gcfs		solute carrier family 46 (folate transporter), member 1	Folic Acid(DB00158)						14.0	19.0	17.0					17																	26732355		2096	4219	6315	SO:0001589	frameshift_variant	113235				cellular iron ion homeostasis|folic acid metabolic process	apical plasma membrane|cytoplasm|integral to membrane	folic acid binding|folic acid transporter activity|heme transporter activity	g.chr17:26732355delG	AK054669	CCDS74019.1, CCDS74020.1	17q11.2	2014-09-17	2007-09-24			ENSG00000076351		"""Solute carriers"""	30521	protein-coding gene	gene with protein product	"""heme carrier protein 1"", ""proton-coupled folate transporter"""	611672	"""solute carrier family 46, member 1"""			16143108, 17129779	Standard	XM_005277786		Approved	HCP1, MGC9564, PCFT	uc002hbf.2	Q96NT5		ENST00000440501.1:c.360delC	17.37:g.26732355delG	ENSP00000395653:p.Ala120fs					CTD-2350C19.2_ENST00000580714.1_RNA|SLC46A1_ENST00000321666.5_Frame_Shift_Del_p.A120fs|SLC46A1_ENST00000584729.1_5'UTR	p.A120fs	NM_080669.4	NP_542400.2	Q96NT5	PCFT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	2	455	-	all_lung(13;0.000533)|Lung NSC(42;0.00171)		120					Q1HE20|Q86T92|Q8TEG3|Q96FL0	Frame_Shift_Del	DEL	ENST00000440501.1	37	c.360delC																																																																																					0.652	SLC46A1-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_080669		2	4						2	4	---	---	---	---
SYT5	6861	broad.mit.edu	37	19	55689729	55689729	+	Frame_Shift_Del	DEL	G	G	-	rs575458911		TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr19:55689729delG	ENST00000354308.3	-	3	456	c.87delC	c.(85-87)cccfs	p.P29fs	SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Intron	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	29					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCAGGGCCCAGGGGGGCACTG	0.602																																						ENST00000354308.3																			0				kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(85-87)ccfs		synaptotagmin V							19.0	20.0	20.0					19																	55689729		2203	4299	6502	SO:0001589	frameshift_variant	6861				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:55689729delG	X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.87delC	19.37:g.55689729delG	ENSP00000346265:p.Pro29fs					SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Frame_Shift_Del_p.P29fs	p.P29fs	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	3	456	-			29					B3KWJ8|B7Z300|Q86X72	Frame_Shift_Del	DEL	ENST00000354308.3	37	c.87delC	CCDS12919.1																																																																																				0.602	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452501.1	NM_003180		3	6						3	6	---	---	---	---
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	CAG	-	rs67182670|rs535773989	byFrequency	TCGA-W2-A7UY-01A-11D-A35I-08	TCGA-W2-A7UY-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20747776-f960-4a9a-ae63-4de8cbff51a2	f88e9bd8-9f29-4144-88d5-ddfa5e10231b	g.chr22:20920814_20920816delCAG	ENST00000263205.7	+	7	820_822	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del|MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591																																						ENST00000263205.7																			4	Insertion - In frame(4)	p.Q250_Q251insQ(4)	ovary(2)|large_intestine(2)	central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(751-753)del		mediator complex subunit 15																																				SO:0001651	inframe_deletion	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20920814_20920816delCAG	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.751_753delCAG	22.37:g.20920823_20920825delCAG	ENSP00000263205:p.Gln262del					MED15_ENST00000541476.1_In_Frame_Del_p.Q236del|MED15_ENST00000425759.2_In_Frame_Del_p.Q151del|MED15_ENST00000292733.7_In_Frame_Del_p.Q262del|MED15_ENST00000382974.2_In_Frame_Del_p.Q191del|MED15_ENST00000406969.1_In_Frame_Del_p.Q236del|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000542773.1_In_Frame_Del_p.Q67del	p.Q262del	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		7	820_822	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	262	Missing (in Ref. 3; BAB85034).	Missing.	Poly-Gln.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Del	DEL	ENST00000263205.7	37	c.751_753delCAG	CCDS33602.1																																																																																				0.591	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		8	41						8	41	---	---	---	---
