#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_filter	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SPATA21	374955	broad.mit.edu	37	1	16736256	16736256	+	Missense_Mutation	SNP	G	G	A	rs542699732	byFrequency	TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:16736256G>A	ENST00000335496.1	-	6	909	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Missense_Mutation_p.R120W	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	143	Pro-rich.						calcium ion binding (GO:0005509)	p.R143W(1)		breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTGGCAGCCGGGCCCACGAT	0.726													G|||	2	0.000399361	0.0	0.0	5008	,	,		12430	0.002		0.0	False		,,,				2504	0.0					uc001ayn.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(427-429)CGG>TGG		spermatogenesis associated 21							16.0	22.0	20.0					1																	16736256		2197	4293	6490	SO:0001583	missense	374955						calcium ion binding	g.chr1:16736256G>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.427C>T	1.37:g.16736256G>A	ENSP00000335612:p.Arg143Trp					SPATA21_uc001ayl.1_RNA|SPATA21_uc010occ.1_Missense_Mutation_p.R120W	p.R143W	NM_198546	NP_940948	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	6	910	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	143			Pro-rich.		B9EK40|F5GXP5	Missense_Mutation	SNP	ENST00000335496.1	37	c.427C>T	CCDS172.1	.	.	.	.	.	.	.	.	.	.	G	8.319	0.823806	0.16678	.	.	ENSG00000187144	ENST00000335496;ENST00000540400	T;T	0.69685	-0.42;-0.28	3.84	-0.808	0.10868	.	0.701264	0.12340	N	0.477567	T	0.49626	0.1568	L	0.32530	0.975	0.09310	N	1	B;B	0.18310	0.027;0.009	B;B	0.12837	0.008;0.002	T	0.38650	-0.9651	10	0.87932	D	0	-6.4359	5.0623	0.14564	0.1773:0.0:0.4128:0.4099	.	120;143	F5GXP5;Q7Z572	.;SPT21_HUMAN	W	143;120	ENSP00000335612:R143W;ENSP00000440046:R120W	ENSP00000335612:R143W	R	-	1	2	SPATA21	16608843	0.000000	0.05858	0.060000	0.19600	0.006000	0.05464	-0.154000	0.10130	-0.586000	0.05898	-2.473000	0.00201	CGG		PASS	0.726	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		5	12	5	12	---	---	---	---
YTHDF2	51441	broad.mit.edu	37	1	29095445	29095445	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:29095445G>C	ENST00000373812.3	+	5	2083	c.1721G>C	c.(1720-1722)cGt>cCt	p.R574P	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.R524P|YTHDF2_ENST00000542507.1_Missense_Mutation_p.R574P	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	574	Interaction with m6A-containing mRNAs.				humoral immune response (GO:0006959)|regulation of mRNA stability (GO:0043488)	cytoplasmic mRNA processing body (GO:0000932)	N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)	p.R574P(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTGTAGGAACGTCAAGGTCGT	0.343																																						uc001brc.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1720-1722)CGT>CCT		high glucose-regulated protein 8							63.0	58.0	59.0					1																	29095445		1826	4076	5902	SO:0001583	missense	51441				humoral immune response			g.chr1:29095445G>C	AF155095	CCDS41296.1, CCDS53287.1	1p35	2008-02-05	2004-11-16		ENSG00000198492	ENSG00000198492			31675	protein-coding gene	gene with protein product		610640	"""YTH domain family 2"""			10508479	Standard	NM_016258		Approved	HGRG8, NY-REN-2	uc021okf.1	Q9Y5A9	OTTHUMG00000003648	ENST00000373812.3:c.1721G>C	1.37:g.29095445G>C	ENSP00000362918:p.Arg574Pro					YTHDF2_uc001brd.2_Missense_Mutation_p.R571P|YTHDF2_uc010ofx.1_Missense_Mutation_p.R524P|YTHDF2_uc001bre.2_Missense_Mutation_p.R524P	p.R574P	NM_016258	NP_057342	Q9Y5A9	YTHD2_HUMAN		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)	5	2218	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)	574					A6NKG4|A8K966|B4E1G7|D3DPM8|Q5VSZ9|Q8TDH0|Q9BUJ5	Missense_Mutation	SNP	ENST00000373812.3	37	c.1721G>C	CCDS41296.1	.	.	.	.	.	.	.	.	.	.	G	17.89	3.500434	0.64298	.	.	ENSG00000198492	ENST00000542507;ENST00000373812;ENST00000541996	T;T;T	0.27256	1.68;1.68;1.69	5.61	5.61	0.85477	.	0.358887	0.23448	N	0.048075	T	0.37625	0.1010	L	0.44542	1.39	0.49798	D	0.999826	D	0.54397	0.966	P	0.54346	0.749	T	0.06075	-1.0847	10	0.66056	D	0.02	-10.6301	16.5518	0.84474	0.0:0.0:1.0:0.0	.	574	Q9Y5A9	YTHD2_HUMAN	P	574;574;524	ENSP00000444660:R574P;ENSP00000362918:R574P;ENSP00000439394:R524P	ENSP00000362918:R574P	R	+	2	0	YTHDF2	28968032	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.184000	0.72008	2.634000	0.89283	0.561000	0.74099	CGT		PASS	0.343	YTHDF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010335.1	NM_016258		15	75	15	75	---	---	---	---
AZIN2	113451	broad.mit.edu	37	1	33585663	33585663	+	Missense_Mutation	SNP	G	G	T	rs200660255		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:33585663G>T	ENST00000294517.6	+	12	1850	c.1263G>T	c.(1261-1263)caG>caT	p.Q421H	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.Q441H|ADC_ENST00000373441.1_Missense_Mutation_p.Q441H|ADC_ENST00000373443.3_Missense_Mutation_p.Q421H	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		421					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)	p.Q421H(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TGCGAAGGCAGCTGATGGCTG	0.632																																						uc001bwr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1261-1263)CAG>CAT		ODC antizyme inhibitor-2	L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)						96.0	73.0	81.0					1																	33585663		2203	4300	6503	SO:0001583	missense	113451				polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity	g.chr1:33585663G>T																												ENST00000294517.6:c.1263G>T	1.37:g.33585663G>T	ENSP00000294517:p.Gln421His					ADC_uc001bws.2_Missense_Mutation_p.Q421H|ADC_uc009vue.2_Missense_Mutation_p.Q421H|ADC_uc001bwt.1_3'UTR|ADC_uc001bwu.2_Missense_Mutation_p.Q326H|ADC_uc001bwv.2_Missense_Mutation_p.Q326H|ADC_uc001bww.2_Missense_Mutation_p.Q326H|ADC_uc001bwx.1_3'UTR|ADC_uc009vug.2_Missense_Mutation_p.Q441H	p.Q421H	NM_052998	NP_443724	Q96A70	ADC_HUMAN			12	1850	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)	421					B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Missense_Mutation	SNP	ENST00000294517.6	37	c.1263G>T	CCDS375.1	.	.	.	.	.	.	.	.	.	.	g	14.99	2.701182	0.48307	.	.	ENSG00000142920	ENST00000294517;ENST00000373443;ENST00000398167;ENST00000373441	T;T;T;T	0.46451	0.88;0.88;0.87;0.87	5.22	2.24	0.28232	Alanine racemase/group IV decarboxylase, C-terminal (1);	1.098000	0.06891	N	0.804305	T	0.42787	0.1218	L	0.27053	0.805	0.80722	D	1	D;P	0.53151	0.958;0.93	P;P	0.56474	0.799;0.635	T	0.31280	-0.9949	10	0.42905	T	0.14	-5.9182	5.434	0.16469	0.1727:0.0:0.6648:0.1625	.	441;421	Q96A70-2;Q96A70	.;ADC_HUMAN	H	421;421;441;441	ENSP00000294517:Q421H;ENSP00000362542:Q421H;ENSP00000381233:Q441H;ENSP00000362540:Q441H	ENSP00000294517:Q421H	Q	+	3	2	ADC	33358250	0.998000	0.40836	1.000000	0.80357	0.531000	0.34715	1.354000	0.34056	0.680000	0.31366	0.556000	0.70494	CAG		PASS	0.632	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011867.1			4	51	4	51	---	---	---	---
DPH2	1802	broad.mit.edu	37	1	44437508	44437508	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:44437508A>C	ENST00000255108.3	+	4	1106	c.934A>C	c.(934-936)Aag>Cag	p.K312Q	ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Missense_Mutation_p.K177Q	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	312					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.K312Q(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GGCTGCTGGCAAGCGTAGCTA	0.627																																						uc001ckz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(934-936)AAG>CAG		diphthamide biosynthesis protein 2 isoform a							60.0	58.0	59.0					1																	44437508		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44437508A>C	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.934A>C	1.37:g.44437508A>C	ENSP00000255108:p.Lys312Gln					DPH2_uc001cla.2_Intron|DPH2_uc010okk.1_Missense_Mutation_p.K177Q|DPH2_uc001clb.2_Missense_Mutation_p.K236Q	p.K312Q	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN			4	1129	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	312					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.934A>C	CCDS504.1	.	.	.	.	.	.	.	.	.	.	A	22.0	4.229646	0.79688	.	.	ENSG00000132768	ENST00000255108;ENST00000412950;ENST00000459879	T;T;T	0.49139	0.79;0.79;0.79	4.65	4.65	0.58169	.	0.000000	0.85682	D	0.000000	T	0.72455	0.3462	M	0.88906	2.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.77940	-0.2399	10	0.54805	T	0.06	-13.6158	14.2543	0.66040	1.0:0.0:0.0:0.0	.	177;312	B4DNI8;Q9BQC3	.;DPH2_HUMAN	Q	312;177;85	ENSP00000255108:K312Q;ENSP00000413862:K177Q;ENSP00000432162:K85Q	ENSP00000255108:K312Q	K	+	1	0	DPH2	44210095	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.953000	0.93041	1.959000	0.56917	0.370000	0.22315	AAG		PASS	0.627	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		8	73	8	73	---	---	---	---
ABCA4	24	broad.mit.edu	37	1	94526284	94526284	+	Missense_Mutation	SNP	T	T	C	rs199590367		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:94526284T>C	ENST00000370225.3	-	14	2055	c.1969A>G	c.(1969-1971)Atc>Gtc	p.I657V	ABCA4_ENST00000535735.1_Missense_Mutation_p.I657V	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	657					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)	p.I657V(1)		NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		ACCATGAAGATAGGGAAACAG	0.453																																						uc001dqh.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(4)|central_nervous_system(2)|upper_aerodigestive_tract(1)|breast(1)	12						c.(1969-1971)ATC>GTC		ATP-binding cassette, sub-family A member 4							89.0	70.0	77.0					1																	94526284		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94526284T>C	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1969A>G	1.37:g.94526284T>C	ENSP00000359245:p.Ile657Val					ABCA4_uc010otn.1_Missense_Mutation_p.I657V	p.I657V	NM_000350	NP_000341	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	14	2073	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	657			Helical; (Potential).		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1969A>G	CCDS747.1	.	.	.	.	.	.	.	.	.	.	T	14.40	2.523335	0.44866	.	.	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.88124	-2.31;-2.34	5.87	-0.0619	0.13783	.	0.352416	0.31221	N	0.008031	T	0.65015	0.2651	L	0.29908	0.895	0.45648	D	0.998571	B;B	0.15473	0.013;0.0	B;B	0.20577	0.03;0.005	T	0.59139	-0.7510	10	0.62326	D	0.03	.	6.848	0.23998	0.1103:0.1959:0.0:0.6938	.	657;657	F5H6E5;P78363	.;ABCA4_HUMAN	V	657	ENSP00000359245:I657V;ENSP00000437682:I657V	ENSP00000359245:I657V	I	-	1	0	ABCA4	94298872	0.758000	0.28405	0.989000	0.46669	0.992000	0.81027	0.032000	0.13732	0.057000	0.16193	0.528000	0.53228	ATC		PASS	0.453	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		9	43	9	43	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	98058805	98058806	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:98058805_98058806CC>AT	ENST00000370192.3	-	10	1196_1197	c.1096_1097GG>AT	c.(1096-1098)GGc>ATc	p.G366I		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	366					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.G366V(1)|p.G366S(1)|p.G366I(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATTAACAAAGCCTTTTCTGAAG	0.441																																						uc001drv.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|skin(3)|breast(2)	8	GRCh37	CM052849	DPYD	M		c.(1096-1098)GGC>GTC|c.(1096-1098)GGC>AGC		dihydropyrimidine dehydrogenase isoform 1	Capecitabine(DB01101)|Enfuvirtide(DB00109)																																			SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:98058805C>A|g.chr1:98058806C>T	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.1096_1097delinsAT	1.37:g.98058805_98058806delinsAT	ENSP00000359211:p.Gly366Ile						p.G366V|p.G366S	NM_000110	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	10	1234|1233	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	366					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.1097G>T|c.1096G>A	CCDS30777.1																																																																																				PASS	0.441	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		45|42	261|263	42	261	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103491775	103491775	+	Silent	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:103491775C>T	ENST00000370096.3	-	6	1206	c.894G>A	c.(892-894)acG>acA	p.T298T	COL11A1_ENST00000353414.4_Intron|COL11A1_ENST00000512756.1_Silent_p.T298T|COL11A1_ENST00000358392.2_Intron	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	298	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.T298T(3)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTACCTCCGTCTGTGCTA	0.433																																						uc001dul.2																			3	Substitution - coding silent(3)		lung(2)|endometrium(1)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(892-894)ACG>ACA		alpha 1 type XI collagen isoform A							267.0	221.0	237.0					1																	103491775		2203	4300	6503	SO:0001819	synonymous_variant	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103491775C>T	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.894G>A	1.37:g.103491775C>T						COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Intron|COL11A1_uc001dun.2_Intron|COL11A1_uc009weh.2_Silent_p.T298T	p.T298T	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	6	1212	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	298			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Silent	SNP	ENST00000370096.3	37	c.894G>A	CCDS778.1																																																																																				PASS	0.433	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		5	96	5	96	---	---	---	---
SLC16A1	6566	broad.mit.edu	37	1	113460645	113460645	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:113460645A>C	ENST00000538576.1	-	4	1214	c.383T>G	c.(382-384)tTg>tGg	p.L128W	SLC16A1_ENST00000369626.3_Missense_Mutation_p.L128W|SLC16A1_ENST00000433570.4_Missense_Mutation_p.L128W	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	128					behavioral response to nutrient (GO:0051780)|blood coagulation (GO:0007596)|cellular metabolic process (GO:0044237)|cellular response to organic cyclic compound (GO:0071407)|centrosome organization (GO:0051297)|glucose homeostasis (GO:0042593)|leukocyte migration (GO:0050900)|lipid metabolic process (GO:0006629)|mevalonate transport (GO:0015728)|monocarboxylic acid transport (GO:0015718)|plasma membrane lactate transport (GO:0035879)|pyruvate metabolic process (GO:0006090)|regulation of insulin secretion (GO:0050796)|response to food (GO:0032094)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	mevalonate transmembrane transporter activity (GO:0015130)|monocarboxylic acid transmembrane transporter activity (GO:0008028)|organic cyclic compound binding (GO:0097159)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)	p.L128W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Acetic acid(DB03166)|Aminohippurate(DB00345)|Ampicillin(DB00415)|Foscarnet(DB00529)|Gamma Hydroxybutyric Acid(DB01440)|Methotrexate(DB00563)|Nateglinide(DB00731)|Niacin(DB00627)|Niflumic Acid(DB04552)|Pravastatin(DB00175)|Probenecid(DB01032)|Pyruvic acid(DB00119)|Salicylic acid(DB00936)|Valproic Acid(DB00313)	AGCTGGATTCAAGTTGAAGGC	0.373																																						uc001ecx.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(382-384)TTG>TGG		solute carrier family 16, member 1	Pyruvic acid(DB00119)						33.0	33.0	33.0					1																	113460645		2203	4300	6503	SO:0001583	missense	6566				blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity	g.chr1:113460645A>C	BC026317	CCDS858.1	1p12	2013-07-18	2013-07-18		ENSG00000155380	ENSG00000155380		"""Solute carriers"""	10922	protein-coding gene	gene with protein product		600682	"""solute carrier family 16 (monocarboxylic acid transporters), member 1"", ""solute carrier family 16, member 1 (monocarboxylic acid transporter 1)"""			8124722, 7835905	Standard	NM_003051		Approved	MCT, MCT1	uc001ecy.3	P53985	OTTHUMG00000012129	ENST00000538576.1:c.383T>G	1.37:g.113460645A>C	ENSP00000441065:p.Leu128Trp					SLC16A1_uc001ecy.2_Missense_Mutation_p.L128W|SLC16A1_uc001ecz.2_Missense_Mutation_p.L128W	p.L128W	NM_003051	NP_003042	P53985	MOT1_HUMAN		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	4	1215	-	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)	128			Helical; (Potential).		Q49A45|Q5T8R6|Q9NSJ9	Missense_Mutation	SNP	ENST00000538576.1	37	c.383T>G	CCDS858.1	.	.	.	.	.	.	.	.	.	.	A	24.0	4.485735	0.84854	.	.	ENSG00000155380	ENST00000369626;ENST00000538576;ENST00000458229;ENST00000433570;ENST00000443580;ENST00000429288	T;T;T;T;T;T	0.52295	0.67;0.67;0.67;0.67;0.67;0.67	5.62	5.62	0.85841	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.66005	0.2746	M	0.82323	2.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.71800	-0.4483	10	0.66056	D	0.02	.	15.7747	0.78204	1.0:0.0:0.0:0.0	.	128;128	Q49A45;P53985	.;MOT1_HUMAN	W	128	ENSP00000358640:L128W;ENSP00000441065:L128W;ENSP00000416167:L128W;ENSP00000445061:L128W;ENSP00000399104:L128W;ENSP00000397106:L128W	ENSP00000358640:L128W	L	-	2	0	SLC16A1	113262168	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.276000	0.95745	2.267000	0.75376	0.383000	0.25322	TTG		PASS	0.373	SLC16A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033539.1	NM_003051		15	51	15	51	---	---	---	---
PHTF1	10745	broad.mit.edu	37	1	114253056	114253056	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:114253056G>T	ENST00000369604.1	-	11	1572	c.1089C>A	c.(1087-1089)aaC>aaA	p.N363K	PHTF1_ENST00000369596.2_Missense_Mutation_p.N310K|PHTF1_ENST00000357783.2_Missense_Mutation_p.N363K|PHTF1_ENST00000447664.2_3'UTR|PHTF1_ENST00000393357.2_Missense_Mutation_p.N363K|PHTF1_ENST00000369600.1_Missense_Mutation_p.N310K|PHTF1_ENST00000369598.1_Missense_Mutation_p.N318K|PHTF1_ENST00000474926.1_5'UTR			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	363					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N363K(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTTGACATGTTGAGGCTTC	0.453																																						uc009wgp.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1087-1089)AAC>AAA		putative homeodomain transcription factor 1							63.0	60.0	61.0					1																	114253056		2203	4300	6503	SO:0001583	missense	10745					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:114253056G>T	AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.1089C>A	1.37:g.114253056G>T	ENSP00000358617:p.Asn363Lys					PHTF1_uc001edn.2_Missense_Mutation_p.N363K|PHTF1_uc001edm.2_Missense_Mutation_p.N120K|PHTF1_uc001edo.1_Missense_Mutation_p.N120K	p.N363K	NM_006608	NP_006599	Q9UMS5	PHTF1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	1541	-	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)	363					Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	ENST00000369604.1	37	c.1089C>A	CCDS861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.44|12.44	1.937722|1.937722	0.34189|0.34189	.|.	.|.	ENSG00000116793|ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783|ENST00000412670	.|.	.|.	.|.	5.0|5.0	1.75|1.75	0.24633|0.24633	.|.	0.354406|.	0.34853|.	N|.	0.003625|.	T|T	0.16128|0.16128	0.0388|0.0388	N|N	0.08118|0.08118	0|0	0.46774|0.46774	D|D	0.999194|0.999194	B;B;B|.	0.23249|.	0.006;0.082;0.01|.	B;B;B|.	0.25140|.	0.014;0.058;0.033|.	T|T	0.05402|0.05402	-1.0887|-1.0887	9|5	0.42905|.	T|.	0.14|.	-5.2496|-5.2496	10.0526|10.0526	0.42225|0.42225	0.3892:0.0:0.6108:0.0|0.3892:0.0:0.6108:0.0	.|.	363;118;363|.	Q9UMS5;Q5TCR1;Q9UMS5-2|.	PHTF1_HUMAN;.;.|.	K|K	318;363;310;318;310;363;363|119	.|.	ENSP00000350428:N363K|.	N|T	-|-	3|2	2|0	PHTF1|PHTF1	114054579|114054579	0.030000|0.030000	0.19436|0.19436	0.753000|0.753000	0.31225|0.31225	0.767000|0.767000	0.43475|0.43475	0.120000|0.120000	0.15647|0.15647	0.238000|0.238000	0.21222|0.21222	-0.794000|-0.794000	0.03295|0.03295	AAC|ACA		PASS	0.453	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032666.1	NM_006608		5	44	5	44	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146739123	146739123	+	Nonsense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:146739123C>T	ENST00000369258.4	+	9	954	c.934C>T	c.(934-936)Cag>Tag	p.Q312*	CHD1L_ENST00000369259.3_Nonsense_Mutation_p.Q108*|CHD1L_ENST00000361293.5_Nonsense_Mutation_p.Q31*|CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.Q312*	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	312					ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.Q312*(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AGTTAAACTACAGAACATTTT	0.378																																						uc001epm.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(3)|lung(2)|upper_aerodigestive_tract(1)	6						c.(934-936)CAG>TAG		chromodomain helicase DNA binding protein							119.0	107.0	111.0					1																	146739123		2203	4300	6503	SO:0001587	stop_gained	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146739123C>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.934C>T	1.37:g.146739123C>T	ENSP00000358262:p.Gln312*					uc001epp.2_Intron|CHD1L_uc001epn.3_Nonsense_Mutation_p.Q199*|CHD1L_uc010ozo.1_RNA|CHD1L_uc009wjg.2_RNA|CHD1L_uc009wjh.2_Nonsense_Mutation_p.Q312*|CHD1L_uc010ozp.1_Nonsense_Mutation_p.Q31*|CHD1L_uc001epo.3_Nonsense_Mutation_p.Q108*|CHD1L_uc010ozq.1_5'UTR|CHD1L_uc009wji.2_Nonsense_Mutation_p.Q31*	p.Q312*	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN			9	997	+	all_hematologic(923;0.0487)		312					A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Nonsense_Mutation	SNP	ENST00000369258.4	37	c.934C>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368048	0.95900	.	.	ENSG00000131778	ENST00000431239;ENST00000369259;ENST00000369258;ENST00000436230;ENST00000361293	.	.	.	5.64	5.64	0.86602	.	0.065506	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	15.2025	0.73150	0.0:1.0:0.0:0.0	.	.	.	.	X	312;108;312;212;31	.	ENSP00000355100:Q31X	Q	+	1	0	CHD1L	145205747	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	3.127000	0.50484	2.644000	0.89710	0.650000	0.86243	CAG		PASS	0.378	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		18	77	18	77	---	---	---	---
SETDB1	9869	broad.mit.edu	37	1	150916462	150916462	+	Silent	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:150916462C>T	ENST00000271640.5	+	8	1132	c.942C>T	c.(940-942)tgC>tgT	p.C314C	SETDB1_ENST00000368963.1_Missense_Mutation_p.A247V|SETDB1_ENST00000368969.4_Silent_p.C314C|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368962.2_Silent_p.C314C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	314	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.C314C(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATCCCATTTGCCGGCCACGTG	0.428																																						uc001evu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(940-942)TGC>TGT		SET domain, bifurcated 1 isoform 1							204.0	181.0	189.0					1																	150916462		2203	4300	6503	SO:0001819	synonymous_variant	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150916462C>T	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.942C>T	1.37:g.150916462C>T						SETDB1_uc009wmf.2_Silent_p.C314C|SETDB1_uc001evv.2_Silent_p.C314C|SETDB1_uc001evw.3_Silent_p.C314C|SETDB1_uc009wmg.1_Silent_p.C314C	p.C314C	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1132	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		314			Tudor 1.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	ENST00000271640.5	37	c.942C>T	CCDS44217.1	.	.	.	.	.	.	.	.	.	.	C	5.146	0.212520	0.09757	.	.	ENSG00000143379	ENST00000368963	.	.	.	5.17	3.27	0.37495	.	.	.	.	.	T	0.38134	0.1029	.	.	.	0.24899	N	0.992119	.	.	.	.	.	.	T	0.26430	-1.0103	5	0.87932	D	0	.	11.8716	0.52523	0.0:0.8563:0.0:0.1437	.	.	.	.	V	247	.	ENSP00000357959:A247V	A	+	2	0	SETDB1	149183086	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	1.181000	0.32017	1.417000	0.47077	0.460000	0.39030	GCC		PASS	0.428	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			4	293	4	293	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152275778	152275778	+	Missense_Mutation	SNP	T	T	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:152275778T>G	ENST00000368799.1	-	3	11619	c.11584A>C	c.(11584-11586)Agt>Cgt	p.S3862R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3862	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.S3862R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTAACACTGGATCCCTGG	0.577									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11584-11586)AGT>CGT		filaggrin							176.0	181.0	179.0					1																	152275778		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275778T>G	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11584A>C	1.37:g.152275778T>G	ENSP00000357789:p.Ser3862Arg						p.S3862R	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11620	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3862			Filaggrin 23.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11584A>C	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	T	10.40	1.338593	0.24253	.	.	ENSG00000143631	ENST00000368799	T	0.05649	3.41	3.01	0.256	0.15567	.	.	.	.	.	T	0.02380	0.0073	M	0.78637	2.42	0.09310	N	1	B	0.28605	0.217	B	0.27262	0.078	T	0.42965	-0.9420	9	0.24483	T	0.36	.	3.2672	0.06869	0.0:0.1559:0.3934:0.4507	.	3862	P20930	FILA_HUMAN	R	3862	ENSP00000357789:S3862R	ENSP00000357789:S3862R	S	-	1	0	FLG	150542402	0.005000	0.15991	0.001000	0.08648	0.050000	0.14768	0.437000	0.21543	0.241000	0.21283	0.451000	0.29950	AGT		PASS	0.577	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		10	409	10	409	---	---	---	---
UBE2Q1	55585	broad.mit.edu	37	1	154523919	154523920	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:154523919_154523920GC>CA	ENST00000292211.4	-	11	1202_1203	c.1123_1124GC>TG	c.(1123-1125)GCc>TGc	p.A375C	UBE2Q1-AS1_ENST00000441613.1_RNA|UBE2Q1_ENST00000497453.1_5'Flank	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	375					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)	p.A375G(1)|p.A375S(1)|p.A375C(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACCAGTGTGGCACTGATCTGC	0.564																																						uc001fff.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1123-1125)GCC>GGC|c.(1123-1125)GCC>TCC		ubiquitin-conjugating enzyme E2Q																																				SO:0001583	missense	55585						ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr1:154523919G>C|g.chr1:154523920C>A	AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1123_1124delinsCA	1.37:g.154523919_154523920delinsCA	ENSP00000292211:p.Ala375Cys						p.A375G|p.A375S	NM_017582	NP_060052	Q7Z7E8	UB2Q1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		11	1215|1214	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		375					B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	ENST00000292211.4	37	c.1124C>G|c.1123G>T	CCDS1069.1																																																																																				PASS	0.564	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090704.1	NM_017582		44|47	220|222	44	220	---	---	---	---
FAM189B	10712	broad.mit.edu	37	1	155223486	155223486	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:155223486G>A	ENST00000361361.2	-	5	1060	c.551C>T	c.(550-552)gCc>gTc	p.A184V	FAM189B_ENST00000368368.3_Missense_Mutation_p.A165V|FAM189B_ENST00000350210.2_Missense_Mutation_p.A88V|SCAMP3_ENST00000472397.1_5'Flank|FAM189B_ENST00000472550.1_5'UTR	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	184						integral component of membrane (GO:0016021)	WW domain binding (GO:0050699)	p.A184V(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GATTATAGCGGCACAAATGGT	0.552																																						uc001fjm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(550-552)GCC>GTC		hypothetical protein LOC10712 isoform a							97.0	86.0	89.0					1																	155223486		2203	4300	6503	SO:0001583	missense	10712					integral to membrane	WW domain binding	g.chr1:155223486G>A	AF070550	CCDS1103.1, CCDS1104.1, CCDS58035.1	1q21	2009-07-09	2009-07-09	2009-07-09	ENSG00000160767	ENSG00000160767			1233	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 2"""	C1orf2		9331372	Standard	NM_006589		Approved	cote1	uc001fjm.3	P81408	OTTHUMG00000035844	ENST00000361361.2:c.551C>T	1.37:g.155223486G>A	ENSP00000354958:p.Ala184Val					RAG1AP1_uc010pey.1_Intron|FAM189B_uc009wql.2_5'Flank|FAM189B_uc001fjn.2_Missense_Mutation_p.A88V|FAM189B_uc001fjo.2_Missense_Mutation_p.A165V|FAM189B_uc001fjp.2_RNA|FAM189B_uc001fjq.1_Missense_Mutation_p.A184V	p.A184V	NM_006589	NP_006580	P81408	F189B_HUMAN			5	1157	-			184			Helical; (Potential).		B1AVS5|Q8IXL3|Q9BR66	Missense_Mutation	SNP	ENST00000361361.2	37	c.551C>T	CCDS1103.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002946	0.93287	.	.	ENSG00000160767	ENST00000350210;ENST00000333966;ENST00000368368;ENST00000361361;ENST00000491082	T;T;T;T	0.03124	4.04;4.31;4.31;4.04	3.9	3.9	0.45041	.	0.081842	0.50627	D	0.000101	T	0.05410	0.0143	L	0.29908	0.895	0.42764	D	0.993814	D;D;D	0.69078	0.997;0.996;0.993	D;D;D	0.70935	0.948;0.971;0.914	T	0.43228	-0.9404	10	0.66056	D	0.02	.	13.781	0.63084	0.0:0.0:1.0:0.0	.	165;88;184	B1AVS5;P81408-2;P81408	.;.;F189B_HUMAN	V	88;88;165;184;88	ENSP00000307128:A88V;ENSP00000357352:A165V;ENSP00000354958:A184V;ENSP00000427011:A88V	ENSP00000333944:A88V	A	-	2	0	FAM189B	153490110	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	4.395000	0.59678	2.175000	0.68902	0.561000	0.74099	GCC		PASS	0.552	FAM189B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087224.1	NM_006589		4	163	4	163	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160593937	160593937	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:160593937C>T	ENST00000302035.6	-	4	1088	c.739G>A	c.(739-741)Ggt>Agt	p.G247S	SLAMF1_ENST00000235739.5_Intron|SLAMF1_ENST00000538290.1_Missense_Mutation_p.G247S|SLAMF1_ENST00000355199.3_Missense_Mutation_p.G247S	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	247					lymphocyte activation (GO:0046649)|positive regulation of cell proliferation (GO:0008284)|regulation of catalytic activity (GO:0050790)|regulation of vesicle fusion (GO:0031338)|signal transduction (GO:0007165)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|phagocytic vesicle (GO:0045335)	antigen binding (GO:0003823)|transmembrane signaling receptor activity (GO:0004888)	p.G247S(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGATGACACCCCCTAACAGC	0.393																																						uc001fwl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(739-741)GGT>AGT		signaling lymphocytic activation molecule family							201.0	185.0	191.0					1																	160593937		2203	4300	6503	SO:0001583	missense	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160593937C>T	U33017	CCDS1207.1	1q23.3	2013-01-11	2003-10-29	2003-10-31	ENSG00000117090	ENSG00000117090		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10903	protein-coding gene	gene with protein product		603492	"""signaling lymphocytic activation molecule"""	SLAM		7617038	Standard	XM_005245456		Approved	CD150	uc001fwl.4	Q13291	OTTHUMG00000024006	ENST00000302035.6:c.739G>A	1.37:g.160593937C>T	ENSP00000306190:p.Gly247Ser					SLAMF1_uc010pjk.1_RNA|SLAMF1_uc010pjl.1_RNA|SLAMF1_uc010pjm.1_Intron	p.G247S	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	1085	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		247			Helical; (Potential).|Ig-like V-type.		Q5W172|Q9HBE8	Missense_Mutation	SNP	ENST00000302035.6	37	c.739G>A	CCDS1207.1	.	.	.	.	.	.	.	.	.	.	C	16.04	3.010020	0.54361	.	.	ENSG00000117090	ENST00000302035;ENST00000538290;ENST00000355199	T;T;T	0.40225	1.04;1.04;1.04	3.65	1.61	0.23674	.	5.008460	0.00934	N	0.002757	T	0.18045	0.0433	M	0.70595	2.14	0.09310	N	0.999999	B	0.22414	0.069	B	0.20577	0.03	T	0.06303	-1.0834	10	0.14656	T	0.56	-29.0133	3.7809	0.08680	0.234:0.6312:0.0:0.1349	.	247	Q13291	SLAF1_HUMAN	S	247	ENSP00000306190:G247S;ENSP00000438406:G247S;ENSP00000347333:G247S	ENSP00000306190:G247S	G	-	1	0	SLAMF1	158860561	0.000000	0.05858	0.161000	0.22692	0.026000	0.11368	-0.247000	0.08866	0.447000	0.26695	0.650000	0.86243	GGT		PASS	0.393	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			56	316	56	316	---	---	---	---
C1orf112	55732	broad.mit.edu	37	1	169801603	169801603	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:169801603A>G	ENST00000286031.6	+	16	2195	c.1495A>G	c.(1495-1497)Ata>Gta	p.I499V	C1orf112_ENST00000359326.4_Missense_Mutation_p.I499V|C1orf112_ENST00000498289.1_3'UTR	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	499								p.I499V(1)		breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CAACCTATCAATACTGTTGAA	0.413																																						uc001ggp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1495-1497)ATA>GTA		hypothetical protein LOC55732							190.0	174.0	179.0					1																	169801603		2203	4300	6503	SO:0001583	missense	55732							g.chr1:169801603A>G	AL354614	CCDS1285.1	1q24.2	2012-06-26			ENSG00000000460	ENSG00000000460			25565	protein-coding gene	gene with protein product						12477932	Standard	NM_018186		Approved	FLJ10706	uc001ggq.3	Q9NSG2	OTTHUMG00000035821	ENST00000286031.6:c.1495A>G	1.37:g.169801603A>G	ENSP00000286031:p.Ile499Val					C1orf112_uc001ggj.2_RNA|C1orf112_uc001ggq.2_Missense_Mutation_p.I499V|C1orf112_uc009wvt.2_Missense_Mutation_p.I176V|C1orf112_uc009wvu.1_Missense_Mutation_p.I375V|C1orf112_uc001ggr.2_Missense_Mutation_p.I364V|C1orf112_uc010plv.1_Missense_Mutation_p.I441V	p.I499V	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN			17	1805	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		499					A6NFP1|B3KU42|Q3KNQ1|Q9H8L5|Q9NVJ0	Missense_Mutation	SNP	ENST00000286031.6	37	c.1495A>G	CCDS1285.1	.	.	.	.	.	.	.	.	.	.	A	8.578	0.881549	0.17467	.	.	ENSG00000000460	ENST00000359326;ENST00000286031	T;T	0.41400	1.0;1.0	5.93	-8.97	0.00758	.	0.675690	0.16137	N	0.227921	T	0.03827	0.0108	N	0.02830	-0.485	0.21445	N	0.999682	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.37079	-0.9721	10	0.09590	T	0.72	-0.2589	12.7759	0.57448	0.2432:0.1175:0.6393:0.0	.	441;499	B4DGF2;Q9NSG2	.;CA112_HUMAN	V	499	ENSP00000352276:I499V;ENSP00000286031:I499V	ENSP00000286031:I499V	I	+	1	0	C1orf112	168068227	0.000000	0.05858	0.000000	0.03702	0.829000	0.46940	-1.520000	0.02241	-1.690000	0.01432	0.533000	0.62120	ATA		PASS	0.413	C1orf112-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087126.3	NM_018186		13	249	13	249	---	---	---	---
ABL2	27	broad.mit.edu	37	1	179077770	179077770	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:179077770C>A	ENST00000502732.1	-	12	2835	c.2632G>T	c.(2632-2634)Ggg>Tgg	p.G878W	ABL2_ENST00000507173.1_Missense_Mutation_p.G754W|ABL2_ENST00000511413.1_Missense_Mutation_p.G775W|ABL2_ENST00000344730.3_Missense_Mutation_p.G760W|ABL2_ENST00000512653.1_Missense_Mutation_p.G863W|ABL2_ENST00000408940.3_Missense_Mutation_p.G842W|ABL2_ENST00000504405.1_Missense_Mutation_p.G739W|ABL2_ENST00000367623.4_Missense_Mutation_p.G857W	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	878	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.G878W(1)|p.G842W(1)|p.G863W(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	ACTCCCACCCCTGGAGGGTCC	0.582			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		3	Substitution - Missense(3)		lung(3)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(2632-2634)GGG>TGG		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						51.0	57.0	55.0					1																	179077770		2202	4300	6502	SO:0001583	missense	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077770C>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.2632G>T	1.37:g.179077770C>A	ENSP00000427562:p.Gly878Trp					ABL2_uc010pnf.1_Missense_Mutation_p.G775W|ABL2_uc010png.1_Missense_Mutation_p.G754W|ABL2_uc010pnh.1_Missense_Mutation_p.G857W|ABL2_uc001gmg.3_Missense_Mutation_p.G760W|ABL2_uc001gmi.3_Missense_Mutation_p.G863W|ABL2_uc001gmh.3_Missense_Mutation_p.G842W|ABL2_uc010pne.1_Missense_Mutation_p.G739W	p.G878W	NM_007314	NP_009298	P42684	ABL2_HUMAN			12	2919	-			878			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	c.2632G>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.315676	0.40996	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.80214	-1.26;-1.25;-1.35;-1.27;-1.32;-1.24;-1.31;-1.34	4.4	4.4	0.53042	.	0.124781	0.35585	N	0.003105	T	0.82006	0.4943	N	0.22421	0.69	0.37459	D	0.915132	D;P;P;D;D;D;D;D	0.89917	1.0;0.878;0.878;0.997;1.0;1.0;1.0;0.997	D;P;P;D;D;D;D;D	0.91635	0.999;0.629;0.629;0.958;0.998;0.999;0.998;0.958	D	0.85450	0.1160	10	0.87932	D	0	.	12.404	0.55428	0.0:0.8306:0.1694:0.0	.	857;754;775;739;878;863;842;760	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	W	878;842;760;863;739;857;754;775	ENSP00000427562:G878W;ENSP00000386152:G842W;ENSP00000339209:G760W;ENSP00000423578:G863W;ENSP00000426831:G739W;ENSP00000356595:G857W;ENSP00000423413:G754W;ENSP00000424697:G775W	ENSP00000339209:G760W	G	-	1	0	ABL2	177344393	0.996000	0.38824	0.438000	0.26821	0.922000	0.55478	7.065000	0.76727	2.435000	0.82474	0.561000	0.74099	GGG		PASS	0.582	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		27	110	27	110	---	---	---	---
ZNF648	127665	broad.mit.edu	37	1	182026247	182026247	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:182026247A>G	ENST00000339948.3	-	2	1106	c.899T>C	c.(898-900)cTg>cCg	p.L300P		NM_001009992.1	NP_001009992.1	Q5T619	ZN648_HUMAN	zinc finger protein 648	300					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L300P(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GCCCGTGTGCAGGCGCCTGTG	0.697																																					NSCLC(71;908 1374 5429 20458 35642)	uc001goz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(898-900)CTG>CCG		zinc finger protein 648							42.0	41.0	41.0					1																	182026247		2203	4300	6503	SO:0001583	missense	127665				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:182026247A>G	AK128654	CCDS30952.1	1q25.3	2013-01-08			ENSG00000179930	ENSG00000179930		"""Zinc fingers, C2H2-type"""	18190	protein-coding gene	gene with protein product							Standard	NM_001009992		Approved	FLJ46813	uc001goz.3	Q5T619	OTTHUMG00000037302	ENST00000339948.3:c.899T>C	1.37:g.182026247A>G	ENSP00000344129:p.Leu300Pro						p.L300P	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN			2	1107	-			300			C2H2-type 1.		B2RP16	Missense_Mutation	SNP	ENST00000339948.3	37	c.899T>C	CCDS30952.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.856620	0.51376	.	.	ENSG00000179930	ENST00000339948	T	0.07908	3.15	2.81	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16214	0.0390	L	0.61218	1.895	0.58432	D	0.999997	D	0.57571	0.98	P	0.56700	0.804	T	0.01591	-1.1317	9	0.87932	D	0	.	6.1657	0.20388	0.8673:0.0:0.1327:0.0	.	300	Q5T619	ZN648_HUMAN	P	300	ENSP00000344129:L300P	ENSP00000344129:L300P	L	-	2	0	ZNF648	180292870	0.284000	0.24287	0.997000	0.53966	0.975000	0.68041	2.264000	0.43302	0.488000	0.27723	0.459000	0.35465	CTG		PASS	0.697	ZNF648-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090794.1	XM_060597		3	49	3	49	---	---	---	---
DSTYK	25778	broad.mit.edu	37	1	205117394	205117394	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:205117394C>A	ENST00000367162.3	-	12	2571	c.2541G>T	c.(2539-2541)aaG>aaT	p.K847N	DSTYK_ENST00000367161.3_Intron|DSTYK_ENST00000367160.4_Missense_Mutation_p.K506N	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	847	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular response to fibroblast growth factor stimulus (GO:0044344)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of kinase activity (GO:0033674)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)	p.K308N(1)|p.K847N(1)		breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						CCTCAGGGAGCTTGACAGAGC	0.478																																						uc001hbw.2																			2	Substitution - Missense(2)		lung(2)	lung(1)	1						c.(2539-2541)AAG>AAT		receptor interacting protein kinase 5 isoform 1							151.0	138.0	143.0					1																	205117394		2203	4300	6503	SO:0001583	missense	25778					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr1:205117394C>A	AF068286	CCDS1451.1, CCDS1452.1	1q32	2008-12-18	2008-12-18	2008-12-18	ENSG00000133059	ENSG00000133059			29043	protein-coding gene	gene with protein product		612666	"""receptor interacting protein kinase 5"""	RIPK5		15178406	Standard	NM_015375		Approved	KIAA0472, DustyPK, RIP5	uc001hbw.3	Q6XUX3	OTTHUMG00000037102	ENST00000367162.3:c.2541G>T	1.37:g.205117394C>A	ENSP00000356130:p.Lys847Asn					DSTYK_uc001hbx.2_Intron	p.K847N	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN			12	2605	-			847			Protein kinase.		B7ZL64|O75060|Q17R94|Q5RKT0|Q6IN87|Q6P997|Q86Y03|Q9P1S5	Missense_Mutation	SNP	ENST00000367162.3	37	c.2541G>T	CCDS1451.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.501260	0.85176	.	.	ENSG00000133059	ENST00000367160;ENST00000367162	T;T	0.61742	0.08;2.01	5.85	5.85	0.93711	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.088936	0.85682	D	0.000000	T	0.56247	0.1972	N	0.21324	0.655	0.30967	N	0.722949	P	0.50819	0.939	P	0.56960	0.81	T	0.55560	-0.8122	10	0.23891	T	0.37	-28.6411	13.033	0.58854	0.0:0.926:0.0:0.074	.	847	Q6XUX3	DUSTY_HUMAN	N	506;847	ENSP00000356128:K506N;ENSP00000356130:K847N	ENSP00000356128:K506N	K	-	3	2	DSTYK	203384017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.785000	0.38684	2.773000	0.95371	0.655000	0.94253	AAG		PASS	0.478	DSTYK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090345.1	NM_015375		22	151	22	151	---	---	---	---
C1orf74	148304	broad.mit.edu	37	1	209956791	209956791	+	Silent	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:209956791T>C	ENST00000294811.1	-	2	445	c.189A>G	c.(187-189)gcA>gcG	p.A63A		NM_152485.2	NP_689698.1	Q96LT6	CA074_HUMAN	chromosome 1 open reading frame 74	63								p.A63A(1)		endometrium(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	15				OV - Ovarian serous cystadenocarcinoma(81;0.0328)		GGAGCTCTGATGCCCCTGCAC	0.552																																						uc001hhp.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(187-189)GCA>GCG		hypothetical protein LOC148304							61.0	60.0	60.0					1																	209956791		2203	4300	6503	SO:0001819	synonymous_variant	148304							g.chr1:209956791T>C	AK057807	CCDS1491.1	1q32.2	2008-02-05			ENSG00000162757	ENSG00000162757			26319	protein-coding gene	gene with protein product						12477932	Standard	NM_152485		Approved	FLJ25078	uc001hhp.1	Q96LT6	OTTHUMG00000036483	ENST00000294811.1:c.189A>G	1.37:g.209956791T>C							p.A63A	NM_152485	NP_689698	Q96LT6	CA074_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0328)	2	432	-			63						Silent	SNP	ENST00000294811.1	37	c.189A>G	CCDS1491.1																																																																																				PASS	0.552	C1orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088745.1	NM_152485		25	95	25	95	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215972468	215972468	+	Splice_Site	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:215972468C>A	ENST00000307340.3	-	50	10126		c.e50-1		USH2A_ENST00000366943.2_Intron	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)						hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.?(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CATACTTCACCTGTCAATTTA	0.388										HNSCC(13;0.011)																												uc001hku.1																			1	Unknown(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.e50-1		usherin isoform B							47.0	41.0	43.0					1																	215972468		2203	4300	6503	SO:0001630	splice_region_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215972468C>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9740-1G>T	1.37:g.215972468C>A		HNSCC(13;0.011)					p.G3247_splice	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	50	10127	-								Q5VVM9|Q6S362|Q9NS27	Splice_Site	SNP	ENST00000307340.3	37	c.9740_splice	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775084	0.90108	.	.	ENSG00000042781	ENST00000307340	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	USH2A	214039091	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.993000	0.76245	2.736000	0.93811	0.655000	0.94253	.		PASS	0.388	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	Intron	8	34	8	34	---	---	---	---
NUP133	55746	broad.mit.edu	37	1	229600521	229600521	+	Missense_Mutation	SNP	C	C	A	rs139160684		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:229600521C>A	ENST00000261396.3	-	18	2492	c.2401G>T	c.(2401-2403)Gtg>Ttg	p.V801L	NUP133_ENST00000537506.1_Missense_Mutation_p.V785L	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	801					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.V801L(1)		NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCTCGGTCACGATGTTTCGG	0.483																																						uc001htn.2																			1	Substitution - Missense(1)		lung(1)	breast(4)|skin(2)|ovary(1)	7						c.(2401-2403)GTG>TTG		nucleoporin 133kDa							141.0	108.0	119.0					1																	229600521		2203	4300	6503	SO:0001583	missense	55746				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr1:229600521C>A		CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.2401G>T	1.37:g.229600521C>A	ENSP00000261396:p.Val801Leu						p.V801L	NM_018230	NP_060700	Q8WUM0	NU133_HUMAN			18	2493	-	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)	801					B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	ENST00000261396.3	37	c.2401G>T	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	C	1.197	-0.633637	0.03584	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.16743	2.32;2.41;2.32	6.17	2.16	0.27623	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.251516	0.40728	N	0.001025	T	0.04543	0.0124	N	0.01188	-0.97	0.39851	D	0.973245	B	0.02656	0.0	B	0.04013	0.001	T	0.42103	-0.9471	10	0.02654	T	1	-16.4081	10.6943	0.45890	0.1526:0.3454:0.502:0.0	.	801	Q8WUM0	NU133_HUMAN	L	801;801;801;785	ENSP00000261396:V801L;ENSP00000355640:V801L;ENSP00000443496:V785L	ENSP00000261396:V801L	V	-	1	0	NUP133	227667144	0.805000	0.28982	0.006000	0.13384	0.441000	0.31987	1.147000	0.31602	0.152000	0.19188	0.655000	0.94253	GTG		PASS	0.483	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230		17	92	17	92	---	---	---	---
OR1C1	26188	broad.mit.edu	37	1	247921246	247921246	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr1:247921246G>T	ENST00000408896.2	-	1	736	c.463C>A	c.(463-465)Cac>Aac	p.H155N		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	155					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.H155N(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			AGGAGGGCGTGGAGGTAAGTA	0.498																																						uc010pza.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(463-465)CAC>AAC		olfactory receptor, family 1, subfamily C,							62.0	60.0	61.0					1																	247921246		2062	4212	6274	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247921246G>T	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.463C>A	1.37:g.247921246G>T	ENSP00000386138:p.His155Asn						p.H155N	NM_012353	NP_036485	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	463	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	155			Helical; Name=4; (Potential).		B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.463C>A	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	G	4.417	0.077087	0.08485	.	.	ENSG00000221888	ENST00000408896	T	0.37058	1.22	3.19	3.19	0.36642	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.26810	0.0656	N	0.20357	0.565	0.09310	N	1	P	0.41080	0.737	P	0.50754	0.649	T	0.20174	-1.0283	9	0.02654	T	1	.	5.9973	0.19501	0.0:0.1752:0.5511:0.2737	.	155	Q15619	OR1C1_HUMAN	N	155	ENSP00000386138:H155N	ENSP00000386138:H155N	H	-	1	0	OR1C1	245987869	0.000000	0.05858	0.802000	0.32245	0.665000	0.39181	-0.959000	0.03853	1.789000	0.52484	0.580000	0.79431	CAC		PASS	0.498	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			4	41	4	41	---	---	---	---
NCOA1	8648	broad.mit.edu	37	2	24985567	24985567	+	Silent	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:24985567C>G	ENST00000406961.1	+	22	4729	c.4077C>G	c.(4075-4077)ccC>ccG	p.P1359P	NCOA1_ENST00000288599.5_Silent_p.P1359P|NCOA1_ENST00000395856.3_Silent_p.P1359P|NCOA1_ENST00000538539.1_Silent_p.P1359P|NCOA1_ENST00000405141.1_Silent_p.P1359P|NCOA1_ENST00000348332.3_Silent_p.P1359P|NCOA1_ENST00000407230.1_Silent_p.P1208P			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1359					androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)	p.P1359P(4)	PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAAATGATCCCGCACTGAGAC	0.393			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.2				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	4	Substitution - coding silent(4)		lung(4)	soft_tissue(8)|ovary(1)|lung(1)|skin(1)	11						c.(4075-4077)CCC>CCG		nuclear receptor coactivator 1 isoform 1							144.0	157.0	152.0					2																	24985567		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24985567C>G	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.4077C>G	2.37:g.24985567C>G						NCOA1_uc010eye.2_Silent_p.P1359P|NCOA1_uc002rfi.2_Silent_p.P1208P|NCOA1_uc002rfj.2_Silent_p.P1359P|NCOA1_uc002rfl.2_Silent_p.P1359P|NCOA1_uc010eyf.2_Intron	p.P1359P	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			20	4335	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1359					O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.4077C>G	CCDS1712.1																																																																																				PASS	0.393	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		18	530	18	530	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26689649	26689649	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:26689649T>C	ENST00000272371.2	-	36	4559	c.4433A>G	c.(4432-4434)tAc>tGc	p.Y1478C	OTOF_ENST00000339598.3_Missense_Mutation_p.Y711C|OTOF_ENST00000338581.6_Missense_Mutation_p.Y711C|OTOF_ENST00000403946.3_Missense_Mutation_p.Y1478C|OTOF_ENST00000402415.3_Missense_Mutation_p.Y788C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1478					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.Y1478C(1)|p.Y711C(1)|p.Y788C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAACATGCCGTAGGTGGAGTC	0.597																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			3	Substitution - Missense(3)		lung(3)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(4432-4434)TAC>TGC		otoferlin isoform a							96.0	85.0	89.0					2																	26689649		2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26689649T>C	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4433A>G	2.37:g.26689649T>C	ENSP00000272371:p.Tyr1478Cys					OTOF_uc010yla.1_Missense_Mutation_p.Y208C|OTOF_uc002rhh.2_Missense_Mutation_p.Y711C|OTOF_uc002rhi.2_Missense_Mutation_p.Y788C|OTOF_uc002rhj.2_Missense_Mutation_p.Y711C	p.Y1478C	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			36	4560	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1478			Cytoplasmic (Potential).		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.4433A>G	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	T	16.48	3.134130	0.56828	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31;-1.31	4.92	2.44	0.29823	C2 calcium/lipid-binding domain, CaLB (1);	0.258408	0.43416	N	0.000570	T	0.63189	0.2490	N	0.04880	-0.145	0.34281	D	0.682205	P;B;P;B	0.52842	0.777;0.003;0.956;0.001	B;B;P;B	0.48627	0.371;0.008;0.584;0.014	T	0.66972	-0.5788	10	0.38643	T	0.18	-3.9794	5.0418	0.14463	0.4346:0.0837:0.0:0.4817	.	1478;711;788;711	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	711;711;788;1478;1478	ENSP00000345137:Y711C;ENSP00000344521:Y711C;ENSP00000383906:Y788C;ENSP00000272371:Y1478C;ENSP00000385255:Y1478C	ENSP00000272371:Y1478C	Y	-	2	0	OTOF	26543153	1.000000	0.71417	0.748000	0.31131	0.972000	0.66771	4.712000	0.61888	0.294000	0.22547	-0.379000	0.06801	TAC		PASS	0.597	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			17	142	17	142	---	---	---	---
PREB	10113	broad.mit.edu	37	2	27356432	27356432	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:27356432T>C	ENST00000260643.2	-	2	546	c.293A>G	c.(292-294)cAt>cGt	p.H98R	PREB_ENST00000406567.3_Missense_Mutation_p.H98R|PREB_ENST00000416802.1_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	98					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.H98R(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCTGTTGATGTGCCTGGAA	0.582																																						uc002rix.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(292-294)CAT>CGT		prolactin regulatory element binding protein							64.0	57.0	60.0					2																	27356432		2203	4300	6503	SO:0001583	missense	10113				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding	g.chr2:27356432T>C		CCDS1738.1	2p23	2013-01-10			ENSG00000138073	ENSG00000138073		"""WD repeat domain containing"""	9356	protein-coding gene	gene with protein product		606395				10194769, 12735795	Standard	NM_013388		Approved	SEC12	uc002rix.1	Q9HCU5	OTTHUMG00000097076	ENST00000260643.2:c.293A>G	2.37:g.27356432T>C	ENSP00000260643:p.His98Arg					PREB_uc002riy.1_Missense_Mutation_p.H26R|PREB_uc002riz.1_RNA|PREB_uc002rja.1_Missense_Mutation_p.H98R	p.H98R	NM_013388	NP_037520	Q9HCU5	PREB_HUMAN			2	546	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		98			Cytoplasmic (Potential).		Q53SZ8|Q9UH94	Missense_Mutation	SNP	ENST00000260643.2	37	c.293A>G	CCDS1738.1	.	.	.	.	.	.	.	.	.	.	T	4.491	0.090957	0.08632	.	.	ENSG00000138073	ENST00000260643;ENST00000406567;ENST00000546336	T;T	0.78246	-1.16;-1.12	5.39	0.192	0.15134	.	0.871498	0.10487	N	0.668899	T	0.50463	0.1617	N	0.05383	-0.06	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.30149	-0.9988	10	0.14252	T	0.57	-0.0394	2.8501	0.05555	0.3164:0.1746:0.0:0.5091	.	98;98	B5MC98;Q9HCU5	.;PREB_HUMAN	R	98	ENSP00000260643:H98R;ENSP00000384032:H98R	ENSP00000260643:H98R	H	-	2	0	PREB	27209936	0.015000	0.18098	0.184000	0.23157	0.530000	0.34684	0.146000	0.16180	0.014000	0.14944	0.459000	0.35465	CAT		PASS	0.582	PREB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214195.1	NM_013388		10	58	10	58	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29287800	29287800	+	Silent	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:29287800G>T	ENST00000331664.5	-	2	3801	c.3802C>A	c.(3802-3804)Cgg>Agg	p.R1268R	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1268					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.R1268R(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGGCCGGTCCGAGGCTCCGGT	0.682																																						uc002rmt.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(3802-3804)CGG>AGG		hypothetical protein LOC388939							25.0	32.0	30.0					2																	29287800		2010	4164	6174	SO:0001819	synonymous_variant	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29287800G>T		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3802C>A	2.37:g.29287800G>T							p.R1268R	NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN			2	3802	-			1268						Silent	SNP	ENST00000331664.5	37	c.3802C>A	CCDS42669.1																																																																																				PASS	0.682	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		8	28	8	28	---	---	---	---
QPCT	25797	broad.mit.edu	37	2	37586830	37586830	+	Silent	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:37586830C>T	ENST00000338415.3	+	3	533	c.375C>T	c.(373-375)agC>agT	p.S125S	QPCT_ENST00000537448.1_Silent_p.S76S	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	125					cellular protein modification process (GO:0006464)|peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	extracellular vesicular exosome (GO:0070062)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)	p.S125S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ATATCATCAGCACCCTCAATC	0.488																																						uc002rqg.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(373-375)AGC>AGT		glutaminyl-peptide cyclotransferase precursor							115.0	92.0	100.0					2																	37586830		2203	4300	6503	SO:0001819	synonymous_variant	25797				peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding	g.chr2:37586830C>T	X71125	CCDS1790.1	2p22	2008-07-31	2008-07-31		ENSG00000115828	ENSG00000115828	2.3.2.5		9753	protein-coding gene	gene with protein product	"""glutaminyl cyclase"""	607065				7999256	Standard	NM_012413		Approved	QC, GCT	uc002rqg.3	Q16769	OTTHUMG00000100963	ENST00000338415.3:c.375C>T	2.37:g.37586830C>T						QPCT_uc002rqh.2_Silent_p.S76S	p.S125S	NM_012413	NP_036545	Q16769	QPCT_HUMAN			3	497	+		Ovarian(717;0.051)|all_hematologic(82;0.21)	125					Q16770|Q3KRG6|Q53TR4	Silent	SNP	ENST00000338415.3	37	c.375C>T	CCDS1790.1																																																																																				PASS	0.488	QPCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218572.2			23	95	23	95	---	---	---	---
ABCG8	64241	broad.mit.edu	37	2	44078862	44078862	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:44078862C>A	ENST00000272286.2	+	4	552	c.462C>A	c.(460-462)caC>caA	p.H154Q		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	154	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)	p.H154Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	TGCGCCAGCACAACCAGCTGC	0.617																																						uc002rtq.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(1)	4						c.(460-462)CAC>CAA		ATP-binding cassette sub-family G member 8							117.0	108.0	111.0					2																	44078862		2203	4300	6503	SO:0001583	missense	64241				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	g.chr2:44078862C>A	AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.462C>A	2.37:g.44078862C>A	ENSP00000272286:p.His154Gln					ABCG8_uc010yoa.1_Missense_Mutation_p.H154Q	p.H154Q	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN			4	552	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	154			ABC transporter.|Cytoplasmic (Potential).		Q53QN8	Missense_Mutation	SNP	ENST00000272286.2	37	c.462C>A	CCDS1815.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416692	0.25552	.	.	ENSG00000143921	ENST00000272286	D	0.93426	-3.22	4.92	-9.84	0.00479	ABC transporter-like (2);	0.100731	0.64402	N	0.000004	D	0.82379	0.5024	N	0.12961	0.28	0.31486	N	0.666579	B;B	0.15141	0.012;0.008	B;B	0.14578	0.006;0.011	T	0.55927	-0.8063	10	0.39692	T	0.17	.	14.3119	0.66422	0.074:0.1149:0.0:0.8111	.	154;154	Q9H221-2;Q9H221	.;ABCG8_HUMAN	Q	154	ENSP00000272286:H154Q	ENSP00000272286:H154Q	H	+	3	2	ABCG8	43932366	0.003000	0.15002	0.335000	0.25508	0.983000	0.72400	-1.462000	0.02364	-2.873000	0.00322	-0.290000	0.09829	CAC		PASS	0.617	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250671.1	NM_022437		25	162	25	162	---	---	---	---
C2orf78	388960	broad.mit.edu	37	2	74041313	74041313	+	Nonsense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:74041313C>A	ENST00000409561.1	+	2	928	c.807C>A	c.(805-807)taC>taA	p.Y269*		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	269								p.Y269*(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GGATGTATTACTCTGTGTCTT	0.453																																						uc002sjr.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)	2						c.(805-807)TAC>TAA		hypothetical protein LOC388960							98.0	102.0	100.0					2																	74041313		2094	4211	6305	SO:0001587	stop_gained	388960							g.chr2:74041313C>A	AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.807C>A	2.37:g.74041313C>A	ENSP00000387124:p.Tyr269*						p.Y269*	NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN			2	928	+			269						Nonsense_Mutation	SNP	ENST00000409561.1	37	c.807C>A	CCDS46338.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.338243	0.41398	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	1.64	0.23874	.	0.000000	0.29073	U	0.013237	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.6207	5.2411	0.15471	0.0:0.6056:0.1472:0.2472	.	.	.	.	X	269	.	ENSP00000340692:Y269X	Y	+	3	2	C2orf78	73894821	0.886000	0.30341	0.012000	0.15200	0.020000	0.10135	0.192000	0.17096	0.092000	0.17331	-0.136000	0.14681	TAC		PASS	0.453	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000328083.1	NM_001080474		32	210	32	210	---	---	---	---
TRABD2A	129293	broad.mit.edu	37	2	85097839	85097839	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:85097839T>C	ENST00000409520.2	-	2	221	c.179A>G	c.(178-180)cAt>cGt	p.H60R	TRABD2A_ENST00000335459.5_Missense_Mutation_p.H60R|TRABD2A_ENST00000409133.1_Missense_Mutation_p.H60R	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	60					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)	p.H60R(2)									GTACGGGACATGGATTGTGCC	0.478																																						uc010ysl.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(178-180)CAT>CGT		hypothetical protein LOC129293 precursor							23.0	24.0	24.0					2																	85097839		1944	4133	6077	SO:0001583	missense	129293					integral to membrane		g.chr2:85097839T>C	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.179A>G	2.37:g.85097839T>C	ENSP00000387075:p.His60Arg					C2orf89_uc002sou.3_Missense_Mutation_p.H60R|C2orf89_uc010fgc.1_Missense_Mutation_p.H60R	p.H60R	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN			2	268	-			60			Extracellular (Potential).		B4DKK8|I6UMB9	Missense_Mutation	SNP	ENST00000409520.2	37	c.179A>G		.	.	.	.	.	.	.	.	.	.	T	15.56	2.871177	0.51695	.	.	ENSG00000186854	ENST00000335459;ENST00000409520;ENST00000409133	T;T;T	0.67698	2.57;-0.28;-0.28	3.66	2.46	0.29980	.	0.000000	0.64402	D	0.000002	T	0.78400	0.4277	.	.	.	0.41231	D	0.98657	D;D;D	0.89917	0.991;1.0;1.0	D;D;D	0.97110	0.991;1.0;0.999	T	0.77225	-0.2666	9	0.66056	D	0.02	.	8.1281	0.31012	0.0:0.0:0.2049:0.7951	.	60;60;60	Q86V40;C9IYB5;Q86V40-2	CB089_HUMAN;.;.	R	60	ENSP00000335004:H60R;ENSP00000387075:H60R;ENSP00000387183:H60R	ENSP00000335004:H60R	H	-	2	0	C2orf89	84951350	1.000000	0.71417	0.551000	0.28230	0.654000	0.38779	4.051000	0.57412	0.465000	0.27167	0.374000	0.22700	CAT		PASS	0.478	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		4	22	4	22	---	---	---	---
IL1RL1	9173	broad.mit.edu	37	2	102968090	102968090	+	Silent	SNP	C	C	T	rs112596146		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:102968090C>T	ENST00000233954.1	+	11	1651	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	460	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of macrophage activation (GO:0043032)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|interleukin-1 receptor activity (GO:0004908)|interleukin-33 receptor activity (GO:0002114)|receptor signaling protein activity (GO:0005057)	p.Y460Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGTTTGCCTACGAGCAGGAGG	0.527																																						uc002tbu.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(1378-1380)TAC>TAT		interleukin 1 receptor-like 1 isoform 1							92.0	81.0	85.0					2																	102968090		2203	4300	6503	SO:0001819	synonymous_variant	9173				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	g.chr2:102968090C>T	D12764	CCDS2057.1, CCDS2058.1, CCDS74548.1	2q12	2013-01-29			ENSG00000115602	ENSG00000115602		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5998	protein-coding gene	gene with protein product	"""homolog of mouse growth stimulation-expressed"""	601203				1482686, 10191101, 16286016	Standard	NM_016232		Approved	ST2, FIT-1, ST2L, ST2V, DER4, T1, IL33R	uc002tbu.1	Q01638	OTTHUMG00000130782	ENST00000233954.1:c.1380C>T	2.37:g.102968090C>T						IL18R1_uc002tbw.3_Intron	p.Y460Y	NM_016232	NP_057316	Q01638	ILRL1_HUMAN			11	1651	+			460			TIR.|Cytoplasmic (Potential).		A8K6B3|B4E0I3|Q53TU7|Q8NEJ3|Q9ULV7|Q9UQ44	Silent	SNP	ENST00000233954.1	37	c.1380C>T	CCDS2057.1																																																																																				PASS	0.527	IL1RL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253296.1	NM_016232		13	120	13	120	---	---	---	---
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:112608394T>C	ENST00000341068.3	-	14	2381	c.1609A>G	c.(1609-1611)Act>Gct	p.T537A		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	537					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)		p.T537A(5)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GGCTTTGGAGTACTAACGCCA	0.433																																						uc002thi.2																			5	Substitution - Missense(5)		lung(3)|kidney(1)|endometrium(1)	skin(2)	2						c.(1609-1611)ACT>GCT		anaphase promoting complex subunit 1							109.0	106.0	107.0					2																	112608394		2203	4300	6503	SO:0001583	missense	64682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm		g.chr2:112608394T>C	AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.1609A>G	2.37:g.112608394T>C	ENSP00000339109:p.Thr537Ala						p.T537A	NM_022662	NP_073153	Q9H1A4	APC1_HUMAN			14	1856	-			537					Q2M3H8|Q9BSE6|Q9H8D0	Missense_Mutation	SNP	ENST00000341068.3	37	c.1609A>G	CCDS2093.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	4.716|4.716	0.133071|0.133071	0.09032|0.09032	.|.	.|.	ENSG00000153107|ENSG00000153107	ENST00000341068|ENST00000427997	.|.	.|.	.|.	4.57|4.57	3.37|3.37	0.38596|0.38596	.|.	0.273018|.	0.23039|.	U|.	0.052629|.	T|T	0.55305|0.55305	0.1912|0.1912	L|L	0.45352|0.45352	1.415|1.415	0.37887|0.37887	D|D	0.930579|0.930579	B|.	0.14438|.	0.01|.	B|.	0.18263|.	0.021|.	T|T	0.53535|0.53535	-0.8425|-0.8425	9|5	0.08837|.	T|.	0.75|.	-8.0757|-8.0757	10.3103|10.3103	0.43704|0.43704	0.1479:0.0:0.0:0.8521|0.1479:0.0:0.0:0.8521	.|.	537|.	Q9H1A4|.	APC1_HUMAN|.	A|C	537|71	.|.	ENSP00000339109:T537A|.	T|Y	-|-	1|2	0|0	ANAPC1|ANAPC1	112324865|112324865	1.000000|1.000000	0.71417|0.71417	0.138000|0.138000	0.22173|0.22173	0.127000|0.127000	0.20565|0.20565	3.555000|3.555000	0.53727|0.53727	0.570000|0.570000	0.29347|0.29347	0.369000|0.369000	0.22263|0.22263	ACT|TAC		PASS	0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		5	282	5	282	---	---	---	---
MARCO	8685	broad.mit.edu	37	2	119752052	119752052	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:119752052G>T	ENST00000327097.4	+	17	1654	c.1519G>T	c.(1519-1521)Gac>Tac	p.D507Y	MARCO_ENST00000541757.1_Missense_Mutation_p.D429Y	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	507	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)	p.D507Y(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGGCCATCATGACTGCAGCCA	0.587																																					GBM(8;18 374 7467 11269 32796)	uc002tln.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1519-1521)GAC>TAC		macrophage receptor with collagenous structure							121.0	100.0	107.0					2																	119752052		2203	4300	6503	SO:0001583	missense	8685				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	g.chr2:119752052G>T	AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1519G>T	2.37:g.119752052G>T	ENSP00000318916:p.Asp507Tyr					MARCO_uc010yyf.1_Missense_Mutation_p.D429Y	p.D507Y	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN			17	1651	+			507			SRCR.|Extracellular (Potential).		B4DW79|Q9Y5S3	Missense_Mutation	SNP	ENST00000327097.4	37	c.1519G>T	CCDS2124.1	.	.	.	.	.	.	.	.	.	.	G	7.983	0.751711	0.15778	.	.	ENSG00000019169	ENST00000327097;ENST00000410021;ENST00000541757	T;T	0.35605	1.3;1.3	5.25	2.67	0.31697	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.066282	0.56097	D	0.000024	T	0.40398	0.1115	L	0.37850	1.14	0.27288	N	0.957927	P	0.51933	0.949	P	0.61722	0.893	T	0.09400	-1.0676	9	.	.	.	.	6.9378	0.24476	0.812:0.0:0.188:0.0	.	507	Q9UEW3	MARCO_HUMAN	Y	507;453;429	ENSP00000318916:D507Y;ENSP00000441769:D429Y	.	D	+	1	0	MARCO	119468522	0.997000	0.39634	0.995000	0.50966	0.016000	0.09150	0.703000	0.25646	0.999000	0.39023	-0.290000	0.09829	GAC		PASS	0.587	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254190.2	NM_006770		13	64	13	64	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136548329	136548329	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:136548329A>T	ENST00000264162.2	-	15	5244	c.5234T>A	c.(5233-5235)aTt>aAt	p.I1745N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1745	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.I1745N(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TGTGACATAAATTGGAGGGTC	0.498																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(5233-5235)ATT>AAT		lactase-phlorizin hydrolase preproprotein							144.0	126.0	132.0					2																	136548329		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136548329A>T	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5234T>A	2.37:g.136548329A>T	ENSP00000264162:p.Ile1745Asn						p.I1745N	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	15	5245	-			1745			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.5234T>A	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	A	18.09	3.545415	0.65198	.	.	ENSG00000115850	ENST00000264162	T	0.45668	0.89	6.06	6.06	0.98353	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77624	0.4158	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.85891	0.1428	10	0.87932	D	0	-23.5154	16.6093	0.84858	1.0:0.0:0.0:0.0	.	1745	P09848	LPH_HUMAN	N	1745	ENSP00000264162:I1745N	ENSP00000264162:I1745N	I	-	2	0	LCT	136264799	1.000000	0.71417	0.794000	0.32065	0.123000	0.20343	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	ATT		PASS	0.498	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		18	119	18	119	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136594716	136594716	+	Silent	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:136594716G>C	ENST00000264162.2	-	1	34	c.24C>G	c.(22-24)gtC>gtG	p.V8V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	8					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.V8V(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGGCAATAAAGACTACATGCC	0.423																																						uc002tuu.1																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(22-24)GTC>GTG		lactase-phlorizin hydrolase preproprotein							61.0	66.0	64.0					2																	136594716		2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136594716G>C	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.24C>G	2.37:g.136594716G>C							p.V8V	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	1	35	-			8					Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.24C>G	CCDS2178.1																																																																																				PASS	0.423	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		4	137	4	137	---	---	---	---
GALNT3	2591	broad.mit.edu	37	2	166616044	166616044	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:166616044G>A	ENST00000392701.3	-	5	1650	c.875C>T	c.(874-876)gCc>gTc	p.A292V	GALNT3_ENST00000409882.1_Missense_Mutation_p.A30V	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	292	Catalytic subdomain A.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.A292V(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGCTATTCTGGCCAACAGAGG	0.363																																						uc010fph.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(874-876)GCC>GTC		polypeptide N-acetylgalactosaminyltransferase 3							59.0	59.0	59.0					2																	166616044		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166616044G>A		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.875C>T	2.37:g.166616044G>A	ENSP00000376465:p.Ala292Val					GALNT3_uc010fpi.1_Missense_Mutation_p.A292V	p.A292V	NM_004482	NP_004473	Q14435	GALT3_HUMAN			5	1262	-			292			Catalytic subdomain A.|Lumenal (Potential).		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.875C>T	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329698	0.95733	.	.	ENSG00000115339	ENST00000392701;ENST00000409882;ENST00000412248	T;T;T	0.61742	0.08;0.08;0.08	5.56	5.56	0.83823	Glycosyl transferase, family 2 (1);	0.055716	0.64402	D	0.000001	T	0.74145	0.3678	M	0.76433	2.335	0.58432	D	0.999999	P	0.46064	0.872	P	0.57776	0.827	T	0.71708	-0.4511	10	0.37606	T	0.19	.	19.5324	0.95234	0.0:0.0:1.0:0.0	.	292	Q14435	GALT3_HUMAN	V	292;30;292	ENSP00000376465:A292V;ENSP00000386955:A30V;ENSP00000412643:A292V	ENSP00000376465:A292V	A	-	2	0	GALNT3	166324290	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.763000	0.74955	2.609000	0.88269	0.563000	0.77884	GCC		PASS	0.363	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		3	30	3	30	---	---	---	---
GALNT3	2591	broad.mit.edu	37	2	166626805	166626805	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:166626805C>G	ENST00000392701.3	-	2	1181	c.406G>C	c.(406-408)Gaa>Caa	p.E136Q		NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	polypeptide N-acetylgalactosaminyltransferase 3	136					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via serine (GO:0018242)|protein O-linked glycosylation via threonine (GO:0018243)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|manganese ion binding (GO:0030145)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.E136Q(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTTGCTCTTCAACACTTAAA	0.458																																						uc010fph.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(406-408)GAA>CAA		polypeptide N-acetylgalactosaminyltransferase 3							160.0	150.0	153.0					2																	166626805		2203	4300	6503	SO:0001583	missense	2591				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:166626805C>G		CCDS2226.1	2q24-q31	2014-03-13	2014-03-13		ENSG00000115339	ENSG00000115339	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4125	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 3"""	601756	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)"""			9592121, 15133511	Standard	NM_004482		Approved	GalNAc-T3, HHS, HFTC	uc010fph.1	Q14435	OTTHUMG00000132157	ENST00000392701.3:c.406G>C	2.37:g.166626805C>G	ENSP00000376465:p.Glu136Gln					GALNT3_uc010fpi.1_Missense_Mutation_p.E136Q|GALNT3_uc002udi.2_Missense_Mutation_p.E136Q	p.E136Q	NM_004482	NP_004473	Q14435	GALT3_HUMAN			2	793	-			136			Lumenal (Potential).		Q53TG9|Q7Z476	Missense_Mutation	SNP	ENST00000392701.3	37	c.406G>C	CCDS2226.1	.	.	.	.	.	.	.	.	.	.	C	18.04	3.534825	0.64972	.	.	ENSG00000115339	ENST00000392701;ENST00000412248	T;T	0.62639	0.28;0.01	5.81	5.81	0.92471	.	0.206943	0.39210	U	0.001423	T	0.74642	0.3743	L	0.50847	1.595	0.80722	D	1	B;D	0.67145	0.033;0.996	B;D	0.63877	0.059;0.919	T	0.72730	-0.4205	10	0.46703	T	0.11	.	20.0784	0.97758	0.0:1.0:0.0:0.0	.	136;136	Q14435;Q14435-2	GALT3_HUMAN;.	Q	136	ENSP00000376465:E136Q;ENSP00000412643:E136Q	ENSP00000376465:E136Q	E	-	1	0	GALNT3	166335051	1.000000	0.71417	0.972000	0.41901	0.993000	0.82548	6.087000	0.71362	2.736000	0.93811	0.655000	0.94253	GAA		PASS	0.458	GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255205.2	NM_004482		25	155	25	155	---	---	---	---
WDR75	84128	broad.mit.edu	37	2	190331263	190331263	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:190331263G>A	ENST00000314761.4	+	13	1462	c.1402G>A	c.(1402-1404)Ggt>Agt	p.G468S		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	468						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.G468S(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAGCAAAGATGGTTACTTCAA	0.338																																						uc002uql.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1402-1404)GGT>AGT		WD repeat domain 75							108.0	109.0	109.0					2																	190331263		2203	4299	6502	SO:0001583	missense	84128					nucleolus		g.chr2:190331263G>A	AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1402G>A	2.37:g.190331263G>A	ENSP00000314193:p.Gly468Ser					WDR75_uc002uqm.1_Missense_Mutation_p.G404S|WDR75_uc002uqn.1_Missense_Mutation_p.G246S|WDR75_uc002uqo.1_Missense_Mutation_p.G246S	p.G468S	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)		13	1462	+			468			WD 7.		Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Missense_Mutation	SNP	ENST00000314761.4	37	c.1402G>A	CCDS2298.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.264005	0.80358	.	.	ENSG00000115368	ENST00000314761	T	0.12672	2.66	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);	0.094628	0.64402	D	0.000001	T	0.32585	0.0834	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.76494	0.999;0.998	D;D	0.67382	0.931;0.951	T	0.00645	-1.1629	10	0.27785	T	0.31	-24.409	14.7339	0.69402	0.0:0.0:0.8549:0.1451	.	468;468	A8K330;Q8IWA0	.;WDR75_HUMAN	S	468	ENSP00000314193:G468S	ENSP00000314193:G468S	G	+	1	0	WDR75	190039508	1.000000	0.71417	0.999000	0.59377	0.954000	0.61252	6.360000	0.73064	2.752000	0.94435	0.655000	0.94253	GGT		PASS	0.338	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255913.1	NM_032168		12	91	12	91	---	---	---	---
STAT4	6775	broad.mit.edu	37	2	191934419	191934419	+	Splice_Site	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:191934419C>T	ENST00000392320.2	-	6	858	c.544G>A	c.(544-546)Gat>Aat	p.D182N	STAT4_ENST00000358470.4_Splice_Site_p.D182N	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	182					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.D182N(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAAAACTTACCCATTGTCTGA	0.318																																						uc002usm.1																			1	Substitution - Missense(1)		lung(1)	breast(3)|skin(2)|lung(1)|ovary(1)|prostate(1)|pancreas(1)	9						c.(544-546)GAT>AAT		signal transducer and activator of transcription							154.0	152.0	153.0					2																	191934419		2203	4298	6501	SO:0001630	splice_region_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191934419C>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.544+1G>A	2.37:g.191934419C>T						STAT4_uc002usn.1_Missense_Mutation_p.D182N|STAT4_uc010zgk.1_Missense_Mutation_p.D27N|STAT4_uc002uso.2_Missense_Mutation_p.D182N	p.D182N	NM_003151	NP_003142	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		6	798	-			182					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.544G>A	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	C	34	5.356545	0.95854	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	T;T	0.58060	0.36;0.36	6.07	6.07	0.98685	STAT transcription factor, all-alpha (2);STAT transcription factor, coiled coil (1);	1.302160	0.05553	N	0.567906	T	0.72495	0.3467	M	0.73962	2.25	0.80722	D	1	P;P;P	0.43938	0.822;0.822;0.822	P;P;P	0.51055	0.657;0.657;0.657	T	0.62978	-0.6739	9	.	.	.	-22.4215	20.6593	0.99626	0.0:1.0:0.0:0.0	.	91;182;182	Q53S87;B4DV04;Q14765	.;.;STAT4_HUMAN	N	182	ENSP00000351255:D182N;ENSP00000376134:D182N	.	D	-	1	0	STAT4	191642664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.751000	0.74893	2.885000	0.99019	0.655000	0.94253	GAT		PASS	0.318	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151	Missense_Mutation	7	68	7	68	---	---	---	---
CCDC150	284992	broad.mit.edu	37	2	197541455	197541455	+	Splice_Site	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:197541455G>C	ENST00000389175.4	+	12	1575	c.1440G>C	c.(1438-1440)gaG>gaC	p.E480D	CCDC150_ENST00000423093.2_Splice_Site_p.E148D|CCDC150_ENST00000272831.7_Splice_Site_p.E148D|CCDC150_ENST00000472405.2_3'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	480								p.E480D(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTCAGAGGGAGGTAGGTAGAA	0.363																																						uc002utp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1438-1440)GAG>GAC		coiled-coil domain containing 150							104.0	101.0	101.0					2																	197541455		1862	4097	5959	SO:0001630	splice_region_variant	284992							g.chr2:197541455G>C		CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.1440+1G>C	2.37:g.197541455G>C						CCDC150_uc010zgq.1_RNA|CCDC150_uc010zgr.1_RNA|CCDC150_uc010zgs.1_Missense_Mutation_p.E148D	p.E480D	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN			12	1575	+			480			Potential.		Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	ENST00000389175.4	37	c.1440G>C	CCDS46478.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.089377	0.36855	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000423093	T	0.53640	0.61	5.22	5.22	0.72569	.	0.160111	0.41001	D	0.000966	T	0.41558	0.1164	L	0.60455	1.87	0.80722	D	1	P;P	0.44139	0.827;0.827	B;B	0.38500	0.275;0.275	T	0.36744	-0.9735	10	0.44086	T	0.13	-7.4435	9.6622	0.39962	0.0919:0.0:0.9081:0.0	.	148;480	B4DZ03;Q8NCX0	.;CC150_HUMAN	D	148;480;148	ENSP00000373827:E480D	ENSP00000272831:E148D	E	+	3	2	CCDC150	197249700	1.000000	0.71417	0.998000	0.56505	0.024000	0.10985	2.751000	0.47508	2.717000	0.92951	0.563000	0.77884	GAG		PASS	0.363	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335377.2	NM_001080539	Missense_Mutation	8	74	8	74	---	---	---	---
ALS2CR11	151254	broad.mit.edu	37	2	202430541	202430541	+	Silent	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:202430541C>G	ENST00000286195.3	-	9	932	c.888G>C	c.(886-888)ctG>ctC	p.L296L	ALS2CR11_ENST00000439140.1_Silent_p.L296L|ALS2CR11_ENST00000450242.1_Silent_p.L296L|ALS2CR11_ENST00000439802.1_Silent_p.L296L	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	296								p.L296L(3)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CAGTAACATTCAGGTCTGGGG	0.383																																						uc002uye.2																			3	Substitution - coding silent(3)		lung(3)	large_intestine(1)|ovary(1)|skin(1)	3						c.(886-888)CTG>CTC		amyotrophic lateral sclerosis 2 (juvenile)							82.0	81.0	82.0					2																	202430541		2203	4300	6503	SO:0001819	synonymous_variant	151254							g.chr2:202430541C>G	AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.888G>C	2.37:g.202430541C>G						ALS2CR11_uc002uyf.2_Silent_p.L296L|ALS2CR11_uc010fti.2_Silent_p.L296L	p.L296L	NM_152525	NP_689738	Q53TS8	AL2SA_HUMAN			9	936	-			296					C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Silent	SNP	ENST00000286195.3	37	c.888G>C	CCDS2349.1																																																																																				PASS	0.383	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2	NM_152525		13	76	13	76	---	---	---	---
PIKFYVE	200576	broad.mit.edu	37	2	209190987	209190987	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:209190987T>A	ENST00000264380.4	+	20	3610	c.3452T>A	c.(3451-3453)aTg>aAg	p.M1151K		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1151					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)	p.M1151K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGGGTAGAATGCTGGCCGAT	0.468																																						uc002vcz.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|kidney(2)|pancreas(1)|central_nervous_system(1)|skin(1)	10						c.(3451-3453)ATG>AAG		phosphatidylinositol-3-phosphate 5-kinase type							60.0	60.0	60.0					2																	209190987		2203	4300	6503	SO:0001583	missense	200576				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding	g.chr2:209190987T>A	AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.3452T>A	2.37:g.209190987T>A	ENSP00000264380:p.Met1151Lys					PIKFYVE_uc010fun.1_Missense_Mutation_p.M832K|PIKFYVE_uc002vcy.1_Missense_Mutation_p.M1095K	p.M1151K	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN			20	3610	+			1151					Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	c.3452T>A	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.480560	0.63849	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.30448	1.53;1.71	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.34193	0.0889	L	0.43152	1.355	0.80722	D	1	D;P	0.54601	0.967;0.665	P;B	0.47206	0.541;0.157	T	0.03514	-1.1029	9	.	.	.	-18.8736	16.0204	0.80478	0.0:0.0:0.0:1.0	.	1151;1095	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	K	1151;727;1095	ENSP00000264380:M1151K;ENSP00000405736:M1095K	.	M	+	2	0	PIKFYVE	208899232	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.950000	0.87804	2.174000	0.68829	0.533000	0.62120	ATG		PASS	0.468	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040		8	76	8	76	---	---	---	---
FN1	2335	broad.mit.edu	37	2	216298158	216298158	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:216298158T>A	ENST00000359671.1	-	3	569	c.304A>T	c.(304-306)Act>Tct	p.T102S	FN1_ENST00000345488.5_Missense_Mutation_p.T102S|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000336916.4_Missense_Mutation_p.T102S|FN1_ENST00000346544.3_Missense_Mutation_p.T102S|FN1_ENST00000357009.2_Missense_Mutation_p.T102S|FN1_ENST00000421182.1_Missense_Mutation_p.T102S|FN1_ENST00000357867.4_Missense_Mutation_p.T102S|FN1_ENST00000446046.1_Missense_Mutation_p.T102S|FN1_ENST00000443816.1_Missense_Mutation_p.T102S|FN1_ENST00000356005.4_Missense_Mutation_p.T102S|FN1_ENST00000354785.4_Missense_Mutation_p.T102S|FN1_ENST00000323926.6_Missense_Mutation_p.T102S|FN1_ENST00000432072.2_Missense_Mutation_p.T102S|FN1_ENST00000426059.1_Missense_Mutation_p.T102S			P02751	FINC_HUMAN	fibronectin 1	102	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)	p.T102S(2)	FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GTGTTCCCAGTGTACTTGTCA	0.493																																						uc002vfa.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(304-306)ACT>TCT		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						114.0	93.0	100.0					2																	216298158		2203	4300	6503	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216298158T>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.304A>T	2.37:g.216298158T>A	ENSP00000352696:p.Thr102Ser					FN1_uc002vfb.2_Missense_Mutation_p.T102S|FN1_uc002vfc.2_Missense_Mutation_p.T102S|FN1_uc002vfd.2_Missense_Mutation_p.T102S|FN1_uc002vfe.2_Missense_Mutation_p.T102S|FN1_uc002vff.2_Missense_Mutation_p.T102S|FN1_uc002vfg.2_Missense_Mutation_p.T102S|FN1_uc002vfh.2_Missense_Mutation_p.T102S|FN1_uc002vfi.2_Missense_Mutation_p.T102S|FN1_uc002vfj.2_Missense_Mutation_p.T102S|FN1_uc002vfl.2_Missense_Mutation_p.T102S	p.T102S	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	3	570	-		Renal(323;0.127)	102			Fibronectin type-I 2.|Fibrin- and heparin-binding 1.		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.304A>T		.	.	.	.	.	.	.	.	.	.	T	34	5.408225	0.96051	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.60405	0.2266	N	0.19112	0.55	0.53688	D	0.999978	B;D;P;B;P;P;P;D;P;P;D	0.64830	0.416;0.994;0.529;0.103;0.942;0.953;0.845;0.963;0.942;0.942;0.987	B;D;B;B;P;P;P;P;P;P;D	0.79108	0.403;0.992;0.209;0.101;0.627;0.672;0.561;0.828;0.543;0.543;0.992	T	0.65117	-0.6246	10	0.66056	D	0.02	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	102;102;102;102;102;102;102;102;102;102;102	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	S	102	ENSP00000394423:T102S;ENSP00000323534:T102S;ENSP00000338200:T102S;ENSP00000350534:T102S;ENSP00000346839:T102S;ENSP00000352696:T102S;ENSP00000265312:T102S;ENSP00000273049:T102S;ENSP00000349509:T102S;ENSP00000410422:T102S;ENSP00000415018:T102S;ENSP00000399538:T102S;ENSP00000348285:T102S;ENSP00000398907:T102S	ENSP00000265313:T102S	T	-	1	0	FN1	216006403	1.000000	0.71417	0.996000	0.52242	0.988000	0.76386	7.463000	0.80869	2.326000	0.78906	0.533000	0.62120	ACT		PASS	0.493	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476		15	103	15	103	---	---	---	---
SLC4A3	6508	broad.mit.edu	37	2	220504424	220504424	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:220504424C>A	ENST00000358055.3	+	20	3756	c.3244C>A	c.(3244-3246)Cgg>Agg	p.R1082R	SLC4A3_ENST00000317151.3_Silent_p.R1082R|SLC4A3_ENST00000373760.2_Silent_p.R1082R|SLC4A3_ENST00000273063.6_Silent_p.R1109R|SLC4A3_ENST00000373762.3_Silent_p.R1109R			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1082	Membrane (anion exchange).				bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)	p.R1109R(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGGGAGCAGCGGGTCACTGG	0.637																																						uc002vmp.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	5						c.(3244-3246)CGG>AGG		solute carrier family 4, anion exchanger, member							53.0	42.0	46.0					2																	220504424		2203	4300	6503	SO:0001819	synonymous_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220504424C>A		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.3244C>A	2.37:g.220504424C>A						SLC4A3_uc002vmo.3_Silent_p.R1109R|SLC4A3_uc010fwm.2_Silent_p.R632R	p.R1082R	NM_005070	NP_005061	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	20	3513	+		Renal(207;0.0183)	1082			Membrane (anion exchange).		A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Silent	SNP	ENST00000358055.3	37	c.3244C>A	CCDS2445.1																																																																																				PASS	0.637	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		6	45	6	45	---	---	---	---
PAX3	5077	broad.mit.edu	37	2	223084939	223084939	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:223084939T>A	ENST00000350526.4	-	7	1229	c.1093A>T	c.(1093-1095)Agc>Tgc	p.S365C	PAX3_ENST00000336840.6_Missense_Mutation_p.S365C|PAX3_ENST00000392069.2_Missense_Mutation_p.S365C|PAX3_ENST00000464706.1_5'UTR|PAX3_ENST00000344493.4_Missense_Mutation_p.S365C|PAX3_ENST00000409551.3_Missense_Mutation_p.S364C|PAX3_ENST00000392070.2_Missense_Mutation_p.S365C	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	365					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S365C(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGTATAGCTGGAAAATCCA	0.567			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																															uc010fwo.2				Dom	yes		2	2q35	5077	T	paired box gene 3	yes	Waardenburg syndrome; craniofacial-deafness-hand syndrome	M	FOXO1A|NCOA1		alveolar rhabdomyosarcoma	PAX3/FOXO1(749)|PAX3/NCOA1(8)|PAX3/NCOA2(4)	1	Substitution - Missense(1)		lung(1)	soft_tissue(761)|ovary(4)|skin(1)	766						c.(1093-1095)AGC>TGC		paired box 3 isoform PAX3							186.0	159.0	168.0					2																	223084939		2203	4300	6503	SO:0001583	missense	5077				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:223084939T>A		CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.1093A>T	2.37:g.223084939T>A	ENSP00000343052:p.Ser365Cys					PAX3_uc002vmt.1_Missense_Mutation_p.S365C|PAX3_uc002vmy.1_Missense_Mutation_p.S364C|PAX3_uc002vmv.1_Missense_Mutation_p.S365C|PAX3_uc002vmw.1_Missense_Mutation_p.S365C|PAX3_uc002vmx.1_Missense_Mutation_p.S365C	p.S365C	NM_181457	NP_852122	P23760	PAX3_HUMAN		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	1459	-		Renal(207;0.0183)	365					G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	c.1093A>T	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	T	20.5	3.994255	0.74703	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000464706;ENST00000555548	T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.68	5.68	0.88126	.	0.085746	0.85682	D	0.000000	D	0.84133	0.5405	L	0.29908	0.895	0.80722	D	1	B;D;D;D;D	0.76494	0.167;0.997;0.998;0.999;0.996	B;P;P;D;P	0.72625	0.259;0.819;0.847;0.978;0.794	D	0.85629	0.1269	10	0.56958	D	0.05	.	15.9325	0.79675	0.0:0.0:0.0:1.0	.	365;364;365;365;365	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	C	365;365;365;365;365;364;82;82	ENSP00000375921:S365C;ENSP00000342092:S365C;ENSP00000343052:S365C;ENSP00000375922:S365C;ENSP00000338767:S365C;ENSP00000386750:S364C	ENSP00000338767:S365C	S	-	1	0	PAX3	222793183	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.821000	0.69257	2.169000	0.68431	0.528000	0.53228	AGC		PASS	0.567	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1			10	63	10	63	---	---	---	---
SPHKAP	80309	broad.mit.edu	37	2	228892257	228892257	+	Silent	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr2:228892257G>T	ENST00000392056.3	-	4	295	c.249C>A	c.(247-249)gtC>gtA	p.V83V	SPHKAP_ENST00000344657.5_Silent_p.V83V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	83						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)	p.V83V(2)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCACAAAGCAGACCTGGGAAA	0.428																																						uc002vpq.2																			2	Substitution - coding silent(2)		lung(2)	skin(5)|ovary(4)|lung(1)	10						c.(247-249)GTC>GTA		sphingosine kinase type 1-interacting protein							108.0	103.0	105.0					2																	228892257		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228892257G>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.249C>A	2.37:g.228892257G>T						SPHKAP_uc002vpp.2_Silent_p.V83V|SPHKAP_uc010zlx.1_Silent_p.V83V	p.V83V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	4	296	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	83					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.249C>A	CCDS46537.1																																																																																				PASS	0.428	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		27	145	27	145	---	---	---	---
THUMPD3	25917	broad.mit.edu	37	3	9424981	9424981	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:9424981C>T	ENST00000345094.3	+	8	1557	c.1223C>T	c.(1222-1224)cCa>cTa	p.P408L	THUMPD3_ENST00000452837.2_Missense_Mutation_p.P408L|SETD5-AS1_ENST00000523354.1_RNA|SETD5-AS1_ENST00000520629.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.P408L|SETD5-AS1_ENST00000521609.1_RNA|SETD5-AS1_ENST00000519043.1_RNA|SETD5-AS1_ENST00000468186.1_RNA	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	408						cytoplasm (GO:0005737)|nucleolus (GO:0005730)	methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)	p.P408L(1)		NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		ACAGATTTGCCATTTGGAAAA	0.383																																						uc003bro.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1222-1224)CCA>CTA		THUMP domain containing 3							115.0	109.0	111.0					3																	9424981		2203	4300	6503	SO:0001583	missense	25917						methyltransferase activity|protein binding|RNA binding	g.chr3:9424981C>T	AL117483	CCDS2573.1	3p25.3	2004-06-04			ENSG00000134077	ENSG00000134077			24493	protein-coding gene	gene with protein product						12477932	Standard	NM_015453		Approved	DKFZP434F091	uc003brn.4	Q9BV44	OTTHUMG00000097031	ENST00000345094.3:c.1223C>T	3.37:g.9424981C>T	ENSP00000339532:p.Pro408Leu					LOC440944_uc003brm.2_Intron|THUMPD3_uc003brn.3_Missense_Mutation_p.P408L	p.P408L	NM_001114092	NP_001107564	Q9BV44	THUM3_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.101)	8	1371	+	Medulloblastoma(99;0.227)		408					Q9H8V6|Q9NVC1|Q9UFS3	Missense_Mutation	SNP	ENST00000345094.3	37	c.1223C>T	CCDS2573.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.923498	0.92319	.	.	ENSG00000134077	ENST00000452837;ENST00000345094;ENST00000515662	D;D;D	0.83075	-1.68;-1.68;-1.68	5.29	5.29	0.74685	Putative RNA methylase (1);	0.000000	0.85682	D	0.000000	D	0.92459	0.7606	M	0.86864	2.845	0.80722	D	1	D	0.71674	0.998	D	0.83275	0.996	D	0.93589	0.6919	10	0.87932	D	0	-13.8695	18.5287	0.90983	0.0:1.0:0.0:0.0	.	408	Q9BV44	THUM3_HUMAN	L	408	ENSP00000395893:P408L;ENSP00000339532:P408L;ENSP00000424064:P408L	ENSP00000339532:P408L	P	+	2	0	THUMPD3	9399981	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.566000	0.82347	2.480000	0.83734	0.557000	0.71058	CCA		PASS	0.383	THUMPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214127.1	NM_015453		24	73	24	73	---	---	---	---
USP19	10869	broad.mit.edu	37	3	49153267	49153267	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:49153267C>A	ENST00000398888.2	-	10	1591	c.1273G>T	c.(1273-1275)Gtg>Ttg	p.V425L	USP19_ENST00000417901.1_Missense_Mutation_p.V528L|USP19_ENST00000398892.3_Missense_Mutation_p.V465L|USP19_ENST00000488993.1_5'Flank|USP19_ENST00000398896.1_Missense_Mutation_p.V233L|USP19_ENST00000398898.2_Missense_Mutation_p.V465L|USP19_ENST00000434032.2_Missense_Mutation_p.V526L|USP19_ENST00000453664.1_Missense_Mutation_p.V516L	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	425					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.V526L(1)|p.V513L(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCTTCTCCACAGCCCGGGCC	0.607																																						uc003cwd.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|breast(2)|lung(1)	7						c.(1273-1275)GTG>TTG		ubiquitin thioesterase 19							77.0	81.0	79.0					3																	49153267		2030	4176	6206	SO:0001583	missense	10869				ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:49153267C>A	AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.1273G>T	3.37:g.49153267C>A	ENSP00000381863:p.Val425Leu					USP19_uc003cwa.2_Missense_Mutation_p.V233L|USP19_uc003cvz.3_Missense_Mutation_p.V528L|USP19_uc011bcg.1_Missense_Mutation_p.V516L|USP19_uc003cwb.2_Missense_Mutation_p.V511L|USP19_uc003cwc.1_Missense_Mutation_p.V183L|USP19_uc011bch.1_Missense_Mutation_p.V526L|USP19_uc011bci.1_Missense_Mutation_p.V513L	p.V425L	NM_006677	NP_006668	O94966	UBP19_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	10	1434	-			425			Cytoplasmic (Potential).		A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	ENST00000398888.2	37	c.1273G>T	CCDS43090.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.16|12.16	1.853330|1.853330	0.32791|0.32791	.|.	.|.	ENSG00000172046|ENSG00000172046	ENST00000425298|ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032;ENST00000306026	.|T;T;T;T;T;T;T;T	.|0.37235	.|2.13;2.11;2.21;2.2;2.11;2.21;2.2;1.21	6.17|6.17	3.39|3.39	0.38822|0.38822	.|Domain of unknown function DUF1872 (1);	.|0.561193	.|0.18706	.|N	.|0.133450	T|T	0.29491|0.29491	0.0735|0.0735	L|L	0.38175|0.38175	1.15|1.15	0.29888|0.29888	N|N	0.825471|0.825471	.|B;B;B;B;B;P;B	.|0.49358	.|0.086;0.194;0.086;0.042;0.036;0.923;0.042	.|B;B;B;B;B;P;B	.|0.44990	.|0.039;0.093;0.039;0.042;0.019;0.466;0.042	T|T	0.11155|0.11155	-1.0599|-1.0599	6|10	0.66056|0.19590	D|T	0.02|0.45	-7.984|-7.984	9.7483|9.7483	0.40459|0.40459	0.105:0.713:0.0:0.182|0.105:0.713:0.0:0.182	.|.	.|591;526;516;425;465;511;233	.|A5PKX8;E9PEG8;E7EN22;O94966;B5MEG5;O94966-2;E7ESU0	.|.;.;.;UBP19_HUMAN;.;.;.	F|L	512|233;465;528;516;465;425;526;513	.|ENSP00000381870:V233L;ENSP00000381872:V465L;ENSP00000395260:V528L;ENSP00000400090:V516L;ENSP00000381867:V465L;ENSP00000381863:V425L;ENSP00000401197:V526L;ENSP00000303503:V513L	ENSP00000412679:C512F|ENSP00000303503:V513L	C|V	-|-	2|1	0|0	USP19|USP19	49128271|49128271	0.447000|0.447000	0.25673|0.25673	0.998000|0.998000	0.56505|0.56505	0.963000|0.963000	0.63663|0.63663	1.457000|1.457000	0.35212|0.35212	0.170000|0.170000	0.19704|0.19704	-0.797000|-0.797000	0.03246|0.03246	TGT|GTG		PASS	0.607	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257721.1	NM_006677		5	130	5	130	---	---	---	---
BSN	8927	broad.mit.edu	37	3	49698245	49698245	+	Silent	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:49698245T>C	ENST00000296452.4	+	6	9081	c.8967T>C	c.(8965-8967)tcT>tcC	p.S2989S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2989					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)	p.S2989S(1)		breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCAAAGAGTCTTTGGCCAAAG	0.572																																						uc003cxe.3																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(8965-8967)TCT>TCC		bassoon protein							45.0	48.0	47.0					3																	49698245		2203	4300	6503	SO:0001819	synonymous_variant	8927				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding	g.chr3:49698245T>C	AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8967T>C	3.37:g.49698245T>C							p.S2989S	NM_003458	NP_003449	Q9UPA5	BSN_HUMAN		BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)	6	9081	+			2989					O43161|Q7LGH3	Silent	SNP	ENST00000296452.4	37	c.8967T>C	CCDS2800.1																																																																																				PASS	0.572	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458		23	62	23	62	---	---	---	---
IFT57	55081	broad.mit.edu	37	3	107925521	107925521	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:107925521T>A	ENST00000264538.3	-	5	855	c.608A>T	c.(607-609)gAa>gTa	p.E203V		NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	203					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)	p.E203V(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			AATAAAGTTTTCTTCATTATC	0.279																																						uc003dwx.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)|pancreas(1)	3						c.(607-609)GAA>GTA		estrogen-related receptor beta like 1							104.0	97.0	99.0					3																	107925521		2202	4300	6502	SO:0001583	missense	55081				activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding	g.chr3:107925521T>A	AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.608A>T	3.37:g.107925521T>A	ENSP00000264538:p.Glu203Val						p.E203V	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)		5	856	-			203					Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	c.608A>T	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.186561	0.78789	.	.	ENSG00000114446	ENST00000264538	.	.	.	5.46	5.46	0.80206	.	0.200698	0.51477	D	0.000091	T	0.79941	0.4533	M	0.80183	2.485	0.58432	D	0.999997	D	0.89917	1.0	D	0.76575	0.988	T	0.82680	-0.0337	9	0.66056	D	0.02	.	15.4893	0.75593	0.0:0.0:0.0:1.0	.	203	Q9NWB7	IFT57_HUMAN	V	203	.	ENSP00000264538:E203V	E	-	2	0	IFT57	109408211	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.013000	0.64023	2.202000	0.70862	0.454000	0.30748	GAA		PASS	0.279	IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010		19	130	19	130	---	---	---	---
PHLDB2	90102	broad.mit.edu	37	3	111637980	111637980	+	Missense_Mutation	SNP	G	G	A	rs148898642		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:111637980G>A	ENST00000431670.2	+	4	2192	c.1781G>A	c.(1780-1782)cGg>cAg	p.R594Q	PHLDB2_ENST00000393925.3_Missense_Mutation_p.R594Q|PHLDB2_ENST00000393923.3_Missense_Mutation_p.R621Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.R594Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.R594Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.R180Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	594						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)		p.R594Q(2)|p.R621Q(1)		breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GAAGAAACCCGGATAGTCATT	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		19879	0.0		0.001	False		,,,				2504	0.0					uc010hqa.2																			3	Substitution - Missense(3)		lung(3)	ovary(4)|skin(2)	6						c.(1780-1782)CGG>CAG		pleckstrin homology-like domain, family B,		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	136.0	139.0	138.0		1862,1781,1781,1781	4.5	0.8	3	dbSNP_134	138	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense	PHLDB2	NM_001134437.1,NM_001134438.1,NM_001134439.1,NM_145753.2	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	621/1238,594/1254,594/1254,594/1211	111637980	1,13005	2203	4300	6503	SO:0001583	missense	90102					cytoplasm|intermediate filament cytoskeleton|plasma membrane		g.chr3:111637980G>A		CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1781G>A	3.37:g.111637980G>A	ENSP00000405405:p.Arg594Gln					PHLDB2_uc003dyc.2_Missense_Mutation_p.R621Q|PHLDB2_uc003dyd.2_Missense_Mutation_p.R594Q|PHLDB2_uc003dyg.2_Missense_Mutation_p.R594Q|PHLDB2_uc003dyh.2_Missense_Mutation_p.R594Q|PHLDB2_uc003dyi.2_Missense_Mutation_p.R180Q	p.R594Q	NM_001134438	NP_001127910	Q86SQ0	PHLB2_HUMAN			4	2192	+			594			Potential.		A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	ENST00000431670.2	37	c.1781G>A	CCDS46886.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	G	21.7	4.191387	0.78902	0.0	1.16E-4	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000393925;ENST00000481953;ENST00000495180	T;T;T;T;T;T;T	0.52295	0.67;0.98;0.69;0.86;0.98;0.69;1.56	5.41	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.62600	0.2441	L	0.58669	1.825	0.44627	D	0.997604	D;D;D;D	0.89917	0.999;0.998;1.0;1.0	D;P;D;D	0.97110	0.968;0.885;1.0;0.999	T	0.63152	-0.6701	10	0.49607	T	0.09	.	11.5511	0.50721	0.0845:0.0:0.9155:0.0	.	180;594;594;621	E9PGF6;Q86SQ0;Q86SQ0-2;Q86SQ0-3	.;PHLB2_HUMAN;.;.	Q	621;621;594;594;594;594;594;180	ENSP00000377500:R621Q;ENSP00000405405:R594Q;ENSP00000405292:R594Q;ENSP00000418296:R594Q;ENSP00000377502:R594Q;ENSP00000418319:R594Q;ENSP00000420303:R180Q	ENSP00000352764:R621Q	R	+	2	0	PHLDB2	113120670	1.000000	0.71417	0.813000	0.32504	0.593000	0.36681	4.297000	0.59061	1.407000	0.46875	0.561000	0.74099	CGG		PASS	0.408	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354337.1	NM_145753		4	360	4	360	---	---	---	---
GAP43	2596	broad.mit.edu	37	3	115395053	115395054	+	Missense_Mutation	DNP	CC	CC	AG	rs552993601		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:115395053_115395054CC>AG	ENST00000305124.6	+	2	590_591	c.224_225CC>AG	c.(223-225)gCC>gAG	p.A75E	GAP43_ENST00000393780.3_Missense_Mutation_p.A111E	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	75					axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A111A(1)|p.A111E(1)|p.A111D(1)|p.A75A(1)|p.A75E(1)|p.A75D(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		GCCCCTGTTGCCGATGGGGTGG	0.535																																						uc003ebq.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)	ovary(1)	1						c.(223-225)GCC>GAC|c.(223-225)GCC>GCG		growth associated protein 43 isoform 2																																				SO:0001583	missense	2596				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell differentiation|nervous system development|regulation of filopodium assembly|regulation of growth|response to wounding	cell junction|filopodium membrane|growth cone membrane|synapse	calmodulin binding	g.chr3:115395053C>A|g.chr3:115395054C>G		CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	Exception_encountered	3.37:g.115395053_115395054delinsAG	ENSP00000305010:p.Ala75Glu					GAP43_uc003ebr.2_Missense_Mutation_p.A111D|GAP43_uc003ebr.2_Silent_p.A111A	p.A75D|p.A75A	NM_002045	NP_002036	P17677	NEUM_HUMAN		GBM - Glioblastoma multiforme(114;0.164)	2	610|611	+			75					A8K0Y4	Missense_Mutation|Silent	SNP	ENST00000305124.6	37	c.224C>A|c.225C>G	CCDS33830.1																																																																																				PASS	0.535	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258216.2	NM_002045		14|15	115|114	14	114	---	---	---	---
ADPRH	141	broad.mit.edu	37	3	119306408	119306408	+	Nonsense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:119306408G>T	ENST00000478399.1	+	4	2162	c.757G>T	c.(757-759)Gag>Tag	p.E253*	ADPRH_ENST00000465513.1_Nonsense_Mutation_p.E253*|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000357003.3_Nonsense_Mutation_p.E253*|ADPRH_ENST00000478927.1_Nonsense_Mutation_p.E253*			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	253					cellular protein modification process (GO:0006464)|protein de-ADP-ribosylation (GO:0051725)		ADP-ribosylarginine hydrolase activity (GO:0003875)|magnesium ion binding (GO:0000287)	p.E253*(1)		breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CGGTGTGAAGGAGAGGGATCA	0.522																																					GBM(133;579 1804 5989 9967 40052)	uc003ecs.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(757-759)GAG>TAG		ADP-ribosylarginine hydrolase							102.0	87.0	92.0					3																	119306408		2203	4300	6503	SO:0001587	stop_gained	141				protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	g.chr3:119306408G>T	L13291	CCDS2990.1	3q13.31-q13.33	2004-02-27			ENSG00000144843	ENSG00000144843			269	protein-coding gene	gene with protein product		603081				8349667, 12070318	Standard	NM_001125		Approved	ARH1	uc003ecs.3	P54922	OTTHUMG00000159420	ENST00000478399.1:c.757G>T	3.37:g.119306408G>T	ENSP00000420200:p.Glu253*					ADPRH_uc010hqv.2_Nonsense_Mutation_p.E253*|ADPRH_uc011bjb.1_Nonsense_Mutation_p.E146*|ADPRH_uc003ect.2_Nonsense_Mutation_p.E253*	p.E253*	NM_001125	NP_001116	P54922	ADPRH_HUMAN		GBM - Glioblastoma multiforme(114;0.23)	5	1055	+		Lung NSC(201;0.0977)	253					B2R8H1|D3DN83	Nonsense_Mutation	SNP	ENST00000478399.1	37	c.757G>T	CCDS2990.1	.	.	.	.	.	.	.	.	.	.	G	48	14.845640	0.99812	.	.	ENSG00000144843	ENST00000478399;ENST00000478927;ENST00000357003;ENST00000465513	.	.	.	5.92	4.1	0.47936	.	0.094447	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-22.9688	14.6605	0.68868	0.0:0.2768:0.7232:0.0	.	.	.	.	X	253	.	ENSP00000349496:E253X	E	+	1	0	ADPRH	120789098	1.000000	0.71417	1.000000	0.80357	0.863000	0.49368	5.595000	0.67563	0.816000	0.34421	0.650000	0.86243	GAG		PASS	0.522	ADPRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355199.1	NM_001125		8	186	8	186	---	---	---	---
CD86	942	broad.mit.edu	37	3	121825253	121825253	+	Silent	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:121825253G>A	ENST00000330540.2	+	4	725	c.609G>A	c.(607-609)ttG>ttA	p.L203L	CD86_ENST00000264468.5_Intron|CD86_ENST00000393627.2_Silent_p.L197L|CD86_ENST00000469710.1_Silent_p.L121L|CD86_ENST00000493101.1_Silent_p.L91L	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	203	Ig-like C2-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)	p.L203L(1)		breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	CCATCAGCTTGTCTGTTTCAT	0.393																																					GBM(67;1379 1389 36064 39806)	uc003eet.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(607-609)TTG>TTA		CD86 antigen isoform 1	Abatacept(DB01281)						206.0	184.0	192.0					3																	121825253		2203	4300	6503	SO:0001819	synonymous_variant	942				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding	g.chr3:121825253G>A		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.609G>A	3.37:g.121825253G>A						CD86_uc011bjo.1_Silent_p.L121L|CD86_uc011bjp.1_Silent_p.L91L|CD86_uc003eeu.2_Silent_p.L197L	p.L203L	NM_175862	NP_787058	P42081	CD86_HUMAN		GBM - Glioblastoma multiforme(114;0.156)	4	725	+			203			Ig-like C2-type.|Extracellular (Potential).		A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Silent	SNP	ENST00000330540.2	37	c.609G>A	CCDS3009.1	.	.	.	.	.	.	.	.	.	.	G	5.843	0.339734	0.11069	.	.	ENSG00000114013	ENST00000478741	.	.	.	5.65	-4.3	0.03710	.	.	.	.	.	T	0.26991	0.0661	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32481	-0.9905	4	.	.	.	4.6606	6.3764	0.21509	0.4107:0.3276:0.2616:0.0	.	.	.	.	I	199	.	.	V	+	1	0	CD86	123307943	0.000000	0.05858	0.000000	0.03702	0.167000	0.22549	-1.146000	0.03191	-0.787000	0.04510	-0.140000	0.14226	GTC		PASS	0.393	CD86-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000355671.1	NM_006889		70	351	70	351	---	---	---	---
PARP14	54625	broad.mit.edu	37	3	122436926	122436926	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:122436926A>G	ENST00000474629.2	+	13	4275	c.4009A>G	c.(4009-4011)Aaa>Gaa	p.K1337E		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1337	Macro 3. {ECO:0000255|PROSITE- ProRule:PRU00490}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.K1174E(1)|p.K1337E(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGGAAATGCCAAACAACACCC	0.388																																						uc003efq.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(2)|lung(1)|pancreas(1)	6						c.(4009-4011)AAA>GAA		poly (ADP-ribose) polymerase family, member 14							59.0	53.0	55.0					3																	122436926		1827	4091	5918	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122436926A>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4009A>G	3.37:g.122436926A>G	ENSP00000418194:p.Lys1337Glu					PARP14_uc010hrk.2_RNA|PARP14_uc003efr.2_Missense_Mutation_p.K1054E|PARP14_uc003efs.1_Missense_Mutation_p.K1054E	p.K1337E	NM_017554	NP_060024	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	13	4068	+			1337			Macro 3.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4009A>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	A	8.374	0.835896	0.16820	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000398157	T	0.22336	1.96	5.28	-10.6	0.00265	Appr-1-p processing (3);	0.925442	0.09153	N	0.841277	T	0.14874	0.0359	L	0.46157	1.445	0.09310	N	1	B;B	0.24920	0.114;0.075	B;B	0.32393	0.053;0.145	T	0.46992	-0.9151	10	0.02654	T	1	.	15.8062	0.78513	0.7903:0.1322:0.0775:0.0	.	1337;1337	Q460N5-4;Q460N5	.;PAR14_HUMAN	E	1337;1256;333	ENSP00000418194:K1337E	ENSP00000381224:K333E	K	+	1	0	PARP14	123919616	0.000000	0.05858	0.001000	0.08648	0.213000	0.24496	-0.098000	0.11024	-1.976000	0.00996	0.528000	0.53228	AAA		PASS	0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		6	66	6	66	---	---	---	---
MCM2	4171	broad.mit.edu	37	3	127335787	127335787	+	Silent	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:127335787C>G	ENST00000265056.7	+	10	1843	c.1599C>G	c.(1597-1599)ctC>ctG	p.L533L		NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	533	MCM.				cell cycle (GO:0007049)|cellular response to interleukin-4 (GO:0071353)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA unwinding involved in DNA replication (GO:0006268)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|MCM complex (GO:0042555)|microtubule cytoskeleton (GO:0015630)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA replication origin binding (GO:0003688)|metal ion binding (GO:0046872)	p.L533L(1)		ovary(3)|skin(2)|stomach(1)	6						CGCAGTTTCTCAAGTATATTG	0.592																																						uc003ejp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(1)	4						c.(1597-1599)CTC>CTG		minichromosome maintenance complex component 2							71.0	73.0	72.0					3																	127335787		2203	4300	6503	SO:0001819	synonymous_variant	4171				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding	g.chr3:127335787C>G	X67334	CCDS3043.1	3q21	2007-04-04	2007-04-04		ENSG00000073111	ENSG00000073111			6944	protein-coding gene	gene with protein product	"""mitotin"""	116945	"""minichromosome maintenance deficient (S. cerevisiae) 2 (mitotin)"", ""MCM2 minichromosome maintenance deficient 2, mitotin (S. cerevisiae)"""	CCNL1, CDCL1		1710453, 8258304	Standard	NM_004526		Approved	D3S3194, KIAA0030, BM28, cdc19	uc003ejp.4	P49736	OTTHUMG00000159637	ENST00000265056.7:c.1599C>G	3.37:g.127335787C>G						MCM2_uc011bkm.1_Silent_p.L403L|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Silent_p.L486L	p.L533L	NM_004526	NP_004517	P49736	MCM2_HUMAN			10	1656	+			533			MCM.		Q14577|Q15023|Q8N2V1|Q969W7|Q96AE1|Q9BRM7	Silent	SNP	ENST00000265056.7	37	c.1599C>G	CCDS3043.1	.	.	.	.	.	.	.	.	.	.	C	9.126	1.010106	0.19277	.	.	ENSG00000073111	ENST00000491422	.	.	.	5.7	2.39	0.29439	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-37.9741	9.504	0.39035	0.0:0.4868:0.4114:0.1018	.	.	.	.	X	465	.	.	S	+	2	0	MCM2	128818477	0.798000	0.28890	0.971000	0.41717	0.885000	0.51271	-0.094000	0.11094	0.707000	0.31934	0.585000	0.79938	TCA		PASS	0.592	MCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356612.1			4	273	4	273	---	---	---	---
PCCB	5096	broad.mit.edu	37	3	136002707	136002707	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:136002707C>G	ENST00000251654.4	+	6	642	c.572C>G	c.(571-573)cCt>cGt	p.P191R	PCCB_ENST00000471595.1_Missense_Mutation_p.P191R|PCCB_ENST00000469217.1_Missense_Mutation_p.P211R|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000466072.1_Missense_Mutation_p.P191R|PCCB_ENST00000462637.1_Missense_Mutation_p.P168R|PCCB_ENST00000483687.1_Missense_Mutation_p.P172R|PCCB_ENST00000478469.1_Missense_Mutation_p.P191R|PCCB_ENST00000482086.1_Missense_Mutation_p.P75R|PCCB_ENST00000490504.1_Missense_Mutation_p.P134R|PCCB_ENST00000468777.1_Missense_Mutation_p.P222R	NM_000532.4	NP_000523.2	P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	191	Carboxyltransferase.				biotin metabolic process (GO:0006768)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|propionyl-CoA carboxylase activity (GO:0004658)	p.P191H(1)|p.P191R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	GGAGTCATCCCTCAGATTTCT	0.483																																						uc003eqy.1																			2	Substitution - Missense(2)		lung(1)|kidney(1)		0						c.(571-573)CCT>CGT		propionyl Coenzyme A carboxylase, beta	Biotin(DB00121)|L-Valine(DB00161)						117.0	114.0	115.0					3																	136002707		2203	4300	6503	SO:0001583	missense	5096				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity	g.chr3:136002707C>G		CCDS3089.1, CCDS54643.1	3q21-q22	2010-07-01	2010-04-30		ENSG00000114054	ENSG00000114054	6.4.1.3		8654	protein-coding gene	gene with protein product		232050	"""propionyl Coenzyme A carboxylase, beta polypeptide"""			2895916	Standard	NM_000532		Approved		uc003eqy.2	P05166	OTTHUMG00000159792	ENST00000251654.4:c.572C>G	3.37:g.136002707C>G	ENSP00000251654:p.Pro191Arg					PCCB_uc003eqz.1_Missense_Mutation_p.P191R|PCCB_uc011bmc.1_Missense_Mutation_p.P211R|PCCB_uc011bmd.1_Missense_Mutation_p.P108R	p.P191R	NM_000532	NP_000523	P05166	PCCB_HUMAN			6	623	+			191			Carboxyltransferase.		B7Z2Z4|Q16813|Q96CX0	Missense_Mutation	SNP	ENST00000251654.4	37	c.572C>G	CCDS3089.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.722152|4.722152	0.89298|0.89298	.|.	.|.	ENSG00000114054|ENSG00000114054	ENST00000462542|ENST00000251654;ENST00000490504;ENST00000483687;ENST00000468777;ENST00000462637;ENST00000466072;ENST00000482086;ENST00000471595;ENST00000469217;ENST00000478469;ENST00000459873	.|D;D;D;D;D;D;D;D;D;D;D	.|0.99791	.|-6.76;-4.94;-6.76;-6.76;-4.94;-6.76;-6.76;-6.76;-6.76;-6.76;-4.94	5.5|5.5	5.5|5.5	0.81552|0.81552	.|Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99908|0.99908	0.9956|0.9956	H|H	0.99659|0.99659	4.685|4.685	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0	D|D	0.95993|0.95993	0.8987|0.8987	5|10	.|0.87932	.|D	.|0	.|.	19.0083|19.0083	0.92861|0.92861	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|108;211;191;191	.|B7Z7U9;B7Z2Z4;E9PDR0;P05166	.|.;.;.;PCCB_HUMAN	V|R	147|191;134;172;222;168;191;75;191;211;191;108	.|ENSP00000251654:P191R;ENSP00000418307:P134R;ENSP00000420639:P172R;ENSP00000419129:P222R;ENSP00000420391:P168R;ENSP00000420158:P191R;ENSP00000417253:P75R;ENSP00000417549:P191R;ENSP00000419027:P211R;ENSP00000420759:P191R;ENSP00000419293:P108R	.|ENSP00000251654:P191R	L|P	+|+	1|2	0|0	PCCB|PCCB	137485397|137485397	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	7.068000|7.068000	0.76748|0.76748	2.595000|2.595000	0.87683|0.87683	0.655000|0.655000	0.94253|0.94253	CTC|CCT		PASS	0.483	PCCB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000357335.1			20	115	20	115	---	---	---	---
RNF13	11342	broad.mit.edu	37	3	149677870	149677870	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:149677870G>A	ENST00000344229.3	+	10	1430	c.728G>A	c.(727-729)tGt>tAt	p.C243Y	RNF13_ENST00000361785.6_Missense_Mutation_p.C124Y|RNF13_ENST00000392894.3_Missense_Mutation_p.C243Y	NM_007282.4	NP_009213.1	O43567	RNF13_HUMAN	ring finger protein 13	243					protein autoubiquitination (GO:0051865)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.C243Y(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	11		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			TGTGCCATTTGTTTGGATGAG	0.343																																						uc003exn.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)TGT>TAT		ring finger protein 13							224.0	227.0	226.0					3																	149677870		2203	4300	6503	SO:0001583	missense	11342				protein autoubiquitination	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane	ubiquitin-protein ligase activity|zinc ion binding	g.chr3:149677870G>A	AF037204	CCDS3146.1	3q25.1	2013-01-09			ENSG00000082996	ENSG00000082996		"""RING-type (C3HC4) zinc fingers"""	10057	protein-coding gene	gene with protein product		609247					Standard	NM_183381		Approved	RZF	uc003exp.4	O43567	OTTHUMG00000150338	ENST00000344229.3:c.728G>A	3.37:g.149677870G>A	ENSP00000341361:p.Cys243Tyr					RNF13_uc003exp.3_Missense_Mutation_p.C243Y|RNF13_uc010hvh.2_Missense_Mutation_p.C124Y	p.C243Y	NM_007282	NP_009213	O43567	RNF13_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		10	1512	+		all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255)	243			Cytoplasmic (Potential).|RING-type; atypical.		A6NC87|B3KR12|Q05D66|Q6IBJ9	Missense_Mutation	SNP	ENST00000344229.3	37	c.728G>A	CCDS3146.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896621	0.91962	.	.	ENSG00000082996	ENST00000392894;ENST00000344229;ENST00000491086;ENST00000467977;ENST00000543506;ENST00000361785;ENST00000482083	D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	6.06	6.06	0.98353	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.98594	4.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96559	0.9414	10	0.87932	D	0	-16.9249	20.6208	0.99490	0.0:0.0:1.0:0.0	.	124;243	B3KR12;O43567	.;RNF13_HUMAN	Y	243;243;124;124;243;124;124	ENSP00000376628:C243Y;ENSP00000341361:C243Y;ENSP00000420667:C124Y;ENSP00000418308:C124Y;ENSP00000355268:C124Y;ENSP00000418863:C124Y	ENSP00000341361:C243Y	C	+	2	0	RNF13	151160560	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	9.230000	0.95299	2.882000	0.98803	0.655000	0.94253	TGT		PASS	0.343	RNF13-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356876.1	NM_183384		20	493	20	493	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	150876521	150876521	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:150876521G>A	ENST00000474524.1	+	6	810	c.772G>A	c.(772-774)Gtt>Att	p.V258I	MED12L_ENST00000309237.4_Missense_Mutation_p.V258I|MED12L_ENST00000273432.4_Missense_Mutation_p.V258I|MED12L_ENST00000422248.2_Missense_Mutation_p.V258I	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	258						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.V258I(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GATCCTGGATGTTTTAGAAAA	0.318																																						uc003eyp.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1)	7						c.(772-774)GTT>ATT		mediator of RNA polymerase II transcription,							97.0	91.0	93.0					3																	150876521		2203	4300	6503	SO:0001583	missense	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:150876521G>A	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.772G>A	3.37:g.150876521G>A	ENSP00000417235:p.Val258Ile					MED12L_uc011bnz.1_Missense_Mutation_p.V258I|MED12L_uc003eym.1_Missense_Mutation_p.V258I|MED12L_uc003eyn.2_Missense_Mutation_p.V258I|MED12L_uc003eyo.2_Missense_Mutation_p.V258I	p.V258I	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		6	810	+			258					Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	ENST00000474524.1	37	c.772G>A	CCDS33876.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.074216	0.76415	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.59502	0.59;0.6;0.55;0.26	5.01	5.01	0.66863	.	0.143342	0.48286	D	0.000194	T	0.67429	0.2892	L	0.34521	1.04	0.27880	N	0.939716	P;P;P;D	0.53312	0.902;0.841;0.902;0.959	P;P;P;D	0.67103	0.893;0.785;0.893;0.949	T	0.64499	-0.6393	10	0.87932	D	0	-18.0089	18.2984	0.90155	0.0:0.0:1.0:0.0	.	258;258;258;258	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	I	258	ENSP00000403308:V258I;ENSP00000310760:V258I;ENSP00000417235:V258I;ENSP00000273432:V258I	ENSP00000273432:V258I	V	+	1	0	MED12L	152359211	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	3.824000	0.55723	2.484000	0.83849	0.467000	0.42956	GTT		PASS	0.318	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		6	142	6	142	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907600	164907600	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:164907600C>A	ENST00000475390.1	-	2	1462	c.1019G>T	c.(1018-1020)cGa>cTa	p.R340L	SLITRK3_ENST00000241274.3_Missense_Mutation_p.R340L			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	340					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R340L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CCTTGGTGTTCGAGGCTGTTT	0.483										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1018-1020)CGA>CTA		slit and trk like 3 protein precursor							309.0	322.0	317.0					3																	164907600		2203	4300	6503	SO:0001583	missense	22865					integral to membrane		g.chr3:164907600C>A	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1019G>T	3.37:g.164907600C>A	ENSP00000420091:p.Arg340Leu	HNSCC(40;0.11)				SLITRK3_uc003fek.2_Missense_Mutation_p.R340L	p.R340L	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1463	-			340			Extracellular (Potential).		Q1RMY6	Missense_Mutation	SNP	ENST00000475390.1	37	c.1019G>T	CCDS3197.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655907	0.67586	.	.	ENSG00000121871	ENST00000475390;ENST00000241274	T;T	0.54279	0.58;0.58	5.6	5.6	0.85130	.	0.000000	0.28431	N	0.015370	T	0.70894	0.3276	M	0.62723	1.935	0.58432	D	0.999994	D	0.63880	0.993	D	0.74023	0.982	T	0.68010	-0.5522	10	0.40728	T	0.16	-10.7995	19.2358	0.93858	0.0:1.0:0.0:0.0	.	340	O94933	SLIK3_HUMAN	L	340	ENSP00000420091:R340L;ENSP00000241274:R340L	ENSP00000241274:R340L	R	-	2	0	SLITRK3	166390294	0.988000	0.35896	0.997000	0.53966	0.987000	0.75469	7.487000	0.81328	2.662000	0.90505	0.655000	0.94253	CGA		PASS	0.483	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		165	518	165	518	---	---	---	---
ALG3	10195	broad.mit.edu	37	3	183963051	183963051	+	Silent	SNP	C	C	T	rs369032582		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:183963051C>T	ENST00000397676.3	-	4	570	c.540G>A	c.(538-540)gtG>gtA	p.V180V	ALG3_ENST00000418734.2_Silent_p.V124V|ALG3_ENST00000455059.1_Silent_p.V140V|ALG3_ENST00000445626.2_Silent_p.V132V|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000463495.1_5'Flank	NM_005787.5	NP_005778.1	Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	180					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)|dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase activity (GO:0052925)	p.V132V(1)|p.V180V(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAGAGCAGCACCATGGCCA	0.547																																						uc003fne.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(538-540)GTG>GTA		alpha-1,3-mannosyltransferase ALG3 isoform a		C	,	1,4031		0,1,2015	35.0	39.0	38.0		396,540	-9.1	0.2	3		38	0,8356		0,0,4178	no	coding-synonymous,coding-synonymous	ALG3	NM_001006941.2,NM_005787.5	,	0,1,6193	TT,TC,CC		0.0,0.0248,0.0081	,	132/391,180/439	183963051	1,12387	2016	4178	6194	SO:0001819	synonymous_variant	10195				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	g.chr3:183963051C>T	BC002839	CCDS46967.1, CCDS46968.1	3q27.3	2013-02-26	2013-02-26		ENSG00000214160	ENSG00000214160	2.4.1.258	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	23056	protein-coding gene	gene with protein product	"""carbohydrate deficient glycoprotein syndrome type IV"", ""dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase"", ""dol-P-Man dependent alpha-1,3- mannosyltransferase"""	608750	"""asparagine-linked glycosylation 3 homolog (yeast, alpha-1,3-mannosyltransferase)"", ""asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae)"""			1058125	Standard	NM_005787		Approved	NOT56L, Not56, CDGS4, D16Ertd36e	uc003fne.2	Q92685	OTTHUMG00000156823	ENST00000397676.3:c.540G>A	3.37:g.183963051C>T						ALG3_uc011brc.1_Silent_p.V145V|ALG3_uc011brd.1_Silent_p.V124V|ALG3_uc011bre.1_Silent_p.V132V|ALG3_uc003fnf.1_Silent_p.V140V|ALG3_uc011brf.1_Silent_p.V72V	p.V180V	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		4	571	-	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		180			Helical; (Potential).		A8JZZ6|Q9BT71	Silent	SNP	ENST00000397676.3	37	c.540G>A	CCDS46968.1	.	.	.	.	.	.	.	.	.	.	C	9.277	1.047174	0.19827	2.48E-4	0.0	ENSG00000214160	ENST00000446569	.	.	.	5.14	-9.07	0.00724	.	.	.	.	.	T	0.17959	0.0431	.	.	.	0.23107	N	0.998287	.	.	.	.	.	.	T	0.21552	-1.0242	4	.	.	.	-0.0923	5.0847	0.14676	0.0796:0.1316:0.4361:0.3527	.	.	.	.	T	84	.	.	A	-	1	0	ALG3	185445745	0.062000	0.20869	0.208000	0.23602	0.983000	0.72400	-0.561000	0.05957	-1.581000	0.01642	0.462000	0.41574	GCT		PASS	0.547	ALG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346033.1	NM_005787		13	31	13	31	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195505712	195505712	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:195505712T>C	ENST00000463781.3	-	2	13198	c.12739A>G	c.(12739-12741)Acc>Gcc	p.T4247A	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T4247A	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1004					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T4247A(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAAGCTGAGGTAGCACTGCTG	0.587																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(12355-12357)ACC>GCC		mucin 4 isoform a							60.0	63.0	62.0					3																	195505712		2119	4202	6321	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505712T>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12739A>G	3.37:g.195505712T>C	ENSP00000417498:p.Thr4247Ala					MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_5'UTR|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_5'UTR|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_5'UTR|MUC4_uc011bti.1_5'UTR|MUC4_uc011btj.1_5'UTR|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_5'UTR|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.T859A	p.T4119A	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	3	12815	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	1004			Ser-rich.|Repeat.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12355A>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	t	1.690	-0.504381	0.04261	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.35048	1.44;1.33	2.17	0.956	0.19608	.	.	.	.	.	T	0.11410	0.0278	N	0.02011	-0.69	0.09310	N	1	B;B	0.20671	0.047;0.001	B;B	0.06405	0.002;0.0	T	0.30880	-0.9963	8	.	.	.	0.2997	4.3674	0.11230	0.7001:0.0:0.0:0.2999	.	4119;1004	E7ESK3;Q99102	.;MUC4_HUMAN	A	4247;4247;973	ENSP00000417498:T4247A;ENSP00000420243:T4247A	.	T	-	1	0	MUC4	196990491	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.183000	0.16919	0.262000	0.21774	-0.532000	0.04303	ACC		PASS	0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		9	54	9	54	---	---	---	---
MUC4	4585	broad.mit.edu	37	3	195517433	195517433	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr3:195517433T>A	ENST00000463781.3	-	2	1477	c.1018A>T	c.(1018-1020)Acc>Tcc	p.T340S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.T340S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	345					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.T340S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTGAGGGTGTTGATTTGA	0.468																																						uc011bto.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1018-1020)ACC>TCC		mucin 4 isoform a							296.0	278.0	284.0					3																	195517433		2011	4180	6191	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195517433T>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.1018A>T	3.37:g.195517433T>A	ENSP00000417498:p.Thr340Ser					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Missense_Mutation_p.T222S	p.T340S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	1478	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	345					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.1018A>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	6.911	0.537628	0.13188	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	T;T	0.44083	0.93;0.95	3.08	-0.844	0.10741	.	.	.	.	.	T	0.23330	0.0564	L	0.29908	0.895	0.09310	N	1	B;B	0.18741	0.03;0.015	B;B	0.18263	0.021;0.007	T	0.24905	-1.0147	9	0.16896	T	0.51	.	3.065	0.06212	0.0:0.2567:0.2264:0.5169	.	340;345	E7ESK3;Q99102	.;MUC4_HUMAN	S	340;340;314	ENSP00000417498:T340S;ENSP00000420243:T340S	ENSP00000376209:T314S	T	-	1	0	MUC4	197001828	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.136000	0.10405	-0.117000	0.11872	0.505000	0.49811	ACC		PASS	0.468	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		14	722	14	722	---	---	---	---
MSANTD1	345222	broad.mit.edu	37	4	3251171	3251171	+	Silent	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:3251171G>T	ENST00000438480.2	+	1	1969	c.222G>T	c.(220-222)gtG>gtT	p.V74V	MSANTD1_ENST00000507492.1_Silent_p.V61V|MSANTD1_ENST00000510580.1_Silent_p.V74V	NM_001042690.1	NP_001036155.1	Q6ZTZ1	MSD1_HUMAN	Myb/SANT-like DNA-binding domain containing 1	74	Myb-like.							p.V74V(2)		endometrium(1)|lung(2)	3						ACGCCAAGGTGTACGAGAAGA	0.607																																						uc003ggs.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(220-222)GTG>GTT		hypothetical protein LOC345222 isoform a							49.0	46.0	47.0					4																	3251171		2201	4299	6500	SO:0001819	synonymous_variant	345222							g.chr4:3251171G>T		CCDS47003.1	4p16.2	2012-03-02	2012-03-02	2012-03-02	ENSG00000188981	ENSG00000188981			33741	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 44"""	C4orf44			Standard	NM_001042690		Approved	LOC345222	uc003ggs.3	Q6ZTZ1	OTTHUMG00000159977	ENST00000438480.2:c.222G>T	4.37:g.3251171G>T						C4orf44_uc003ggt.2_Silent_p.V74V	p.V74V	NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN			1	405	+			74					C9J6V0	Silent	SNP	ENST00000438480.2	37	c.222G>T	CCDS47003.1																																																																																				PASS	0.607	MSANTD1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370924.1	NM_001012982		7	25	7	25	---	---	---	---
CRMP1	1400	broad.mit.edu	37	4	5868448	5868448	+	Silent	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:5868448G>T	ENST00000397890.2	-	2	289	c.75C>A	c.(73-75)atC>atA	p.I25I	CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Silent_p.I23I|CRMP1_ENST00000324989.7_Silent_p.I139I	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	25					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.I139I(1)		NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GGTCATCGTTGATGATCCGTC	0.443																																						uc003gip.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(73-75)ATC>ATA		collapsin response mediator protein 1 isoform 2							138.0	117.0	124.0					4																	5868448		2203	4300	6503	SO:0001819	synonymous_variant	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5868448G>T	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.75C>A	4.37:g.5868448G>T						CRMP1_uc003gin.1_5'UTR|CRMP1_uc003giq.2_Silent_p.I25I|CRMP1_uc003gir.2_Silent_p.I20I|CRMP1_uc003gis.2_Silent_p.I139I	p.I25I	NM_001313	NP_001304	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	3	176	-			25					A0EJG6|Q13024|Q4W5F1|Q96TC8	Silent	SNP	ENST00000397890.2	37	c.75C>A	CCDS43207.1																																																																																				PASS	0.443	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		10	156	10	156	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57180943	57180943	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:57180943C>A	ENST00000504228.1	+	6	1380	c.1275C>A	c.(1273-1275)gaC>gaA	p.D425E	KIAA1211_ENST00000541073.1_Missense_Mutation_p.D418E|KIAA1211_ENST00000264229.6_Missense_Mutation_p.D425E			Q6ZU35	K1211_HUMAN	KIAA1211	425	Glu-rich.							p.D425E(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTCTGAACGACTTTGAGGAGA	0.637																																						uc003hbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1273-1275)GAC>GAA		hypothetical protein LOC57482							17.0	23.0	21.0					4																	57180943		2018	4158	6176	SO:0001583	missense	57482							g.chr4:57180943C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.1275C>A	4.37:g.57180943C>A	ENSP00000423366:p.Asp425Glu					KIAA1211_uc010iha.2_Missense_Mutation_p.D418E|KIAA1211_uc011bzz.1_Missense_Mutation_p.D335E|KIAA1211_uc003hbm.1_Missense_Mutation_p.D311E	p.D425E	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	1666	+	Glioma(25;0.08)|all_neural(26;0.101)		425			Glu-rich.		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.1275C>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	10.77	1.444986	0.25987	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.12039	2.73;2.73;2.72	4.44	1.33	0.21861	.	.	.	.	.	T	0.05090	0.0136	N	0.08118	0	0.09310	N	1	B;B;B	0.21381	0.055;0.007;0.007	B;B;B	0.21360	0.034;0.013;0.013	T	0.43829	-0.9367	9	0.12430	T	0.62	-1.7392	2.3089	0.04181	0.1802:0.506:0.1206:0.1932	.	418;418;425	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	E	425;425;418;335	ENSP00000264229:D425E;ENSP00000423366:D425E;ENSP00000444006:D418E	ENSP00000264229:D425E	D	+	3	2	KIAA1211	56875700	0.000000	0.05858	0.023000	0.16930	0.068000	0.16541	-0.568000	0.05909	0.250000	0.21479	0.462000	0.41574	GAC		PASS	0.637	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		3	8	3	8	---	---	---	---
SEC24B	10427	broad.mit.edu	37	4	110415820	110415820	+	Silent	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:110415820A>G	ENST00000265175.5	+	6	1351	c.1296A>G	c.(1294-1296)gaA>gaG	p.E432E	SEC24B_ENST00000504968.2_Silent_p.E463E|SEC24B_ENST00000399100.2_Silent_p.E397E	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	432					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|aorta morphogenesis (GO:0035909)|auditory receptor cell stereocilium organization (GO:0060088)|cellular protein metabolic process (GO:0044267)|cochlear nucleus development (GO:0021747)|COPII vesicle coating (GO:0048208)|coronary artery morphogenesis (GO:0060982)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|lung lobe morphogenesis (GO:0060463)|membrane organization (GO:0061024)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|pulmonary artery morphogenesis (GO:0061156)|regulation of cargo loading into COPII-coated vesicle (GO:1901301)|regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|membrane (GO:0016020)	transporter activity (GO:0005215)|zinc ion binding (GO:0008270)	p.E397E(1)|p.E432E(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CCGCCCCTGAACCTGATCCTG	0.483																																						uc003hzk.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|large_intestine(1)	3						c.(1294-1296)GAA>GAG		SEC24 (S. cerevisiae) homolog B isoform a							101.0	110.0	107.0					4																	110415820		2157	4295	6452	SO:0001819	synonymous_variant	10427				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding	g.chr4:110415820A>G	AJ131245	CCDS43260.1, CCDS47124.1, CCDS75179.1	4q25	2013-10-21	2013-10-21		ENSG00000138802	ENSG00000138802			10704	protein-coding gene	gene with protein product		607184	"""SEC24 (S. cerevisiae) related gene family, member B"", ""SEC24 family, member B (S. cerevisiae)"""			10075675, 10329445	Standard	XM_005262688		Approved		uc003hzk.3	O95487	OTTHUMG00000161372	ENST00000265175.5:c.1296A>G	4.37:g.110415820A>G						SEC24B_uc003hzl.2_Silent_p.E397E|SEC24B_uc011cfp.1_Silent_p.E463E|SEC24B_uc011cfq.1_Silent_p.E432E|SEC24B_uc011cfr.1_Silent_p.E397E	p.E432E	NM_006323	NP_006314	O95487	SC24B_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)	6	1351	+		Hepatocellular(203;0.217)	432					B7ZKM8|B7ZKN4|Q0VG08	Silent	SNP	ENST00000265175.5	37	c.1296A>G	CCDS47124.1																																																																																				PASS	0.483	SEC24B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364693.2			44	139	44	139	---	---	---	---
ALPK1	80216	broad.mit.edu	37	4	113350351	113350351	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:113350351C>G	ENST00000458497.1	+	10	1121	c.842C>G	c.(841-843)gCc>gGc	p.A281G	ALPK1_ENST00000504176.2_Missense_Mutation_p.A203G|ALPK1_ENST00000177648.9_Missense_Mutation_p.A281G	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	281							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A281G(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		GCTGCAGAAGCCTGCAAGCTG	0.527																																						uc003iap.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(841-843)GCC>GGC		alpha-kinase 1							138.0	145.0	142.0					4																	113350351		2203	4300	6503	SO:0001583	missense	80216						ATP binding|protein serine/threonine kinase activity	g.chr4:113350351C>G	AY044164	CCDS3697.1, CCDS58923.1	4q26	2008-02-05			ENSG00000073331	ENSG00000073331			20917	protein-coding gene	gene with protein product	"""lymphocyte alpha-kinase"""	607347				10021370, 10819331	Standard	NM_025144		Approved	Lak, FLJ22670, KIAA1527	uc003ian.4	Q96QP1	OTTHUMG00000132911	ENST00000458497.1:c.842C>G	4.37:g.113350351C>G	ENSP00000398048:p.Ala281Gly					ALPK1_uc003ian.3_Missense_Mutation_p.A281G|ALPK1_uc011cfx.1_Missense_Mutation_p.A203G|ALPK1_uc003iao.3_RNA|ALPK1_uc010imo.2_Missense_Mutation_p.A109G	p.A281G	NM_025144	NP_079420	Q96QP1	ALPK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00325)	10	1121	+		Ovarian(17;0.0446)|Hepatocellular(203;0.217)	281					B4E3G1|F5H138|Q68CI9|Q6P9F9|Q6ZNK4|Q9P201	Missense_Mutation	SNP	ENST00000458497.1	37	c.842C>G	CCDS3697.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.111250	0.77210	.	.	ENSG00000073331	ENST00000458497;ENST00000177648;ENST00000504176	T;T;T	0.25912	1.77;1.77;1.77	5.52	3.8	0.43715	.	0.059909	0.64402	D	0.000003	T	0.43722	0.1260	M	0.75447	2.3	0.37010	D	0.895707	D;D;D	0.59767	0.986;0.981;0.976	P;P;P	0.58077	0.832;0.75;0.683	T	0.53613	-0.8414	10	0.87932	D	0	-20.3999	10.7941	0.46451	0.1311:0.8013:0.0:0.0676	.	203;203;281	F5H138;B4E3G1;Q96QP1	.;.;ALPK1_HUMAN	G	281;281;203	ENSP00000398048:A281G;ENSP00000177648:A281G;ENSP00000426044:A203G	ENSP00000177648:A281G	A	+	2	0	ALPK1	113569800	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.697000	0.37784	0.704000	0.31869	-0.119000	0.15052	GCC		PASS	0.527	ALPK1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256421.2	NM_025144		60	180	60	180	---	---	---	---
MAD2L1	4085	broad.mit.edu	37	4	120981308	120981308	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:120981308T>C	ENST00000296509.6	-	5	922	c.583A>G	c.(583-585)Agc>Ggc	p.S195G		NM_002358.3	NP_002349.1	Q13257	MD2L1_HUMAN	MAD2 mitotic arrest deficient-like 1 (yeast)	195	HORMA. {ECO:0000255|PROSITE- ProRule:PRU00109}.|Required for assuming the closed conformation and for interaction with CDC20.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mitotic anaphase-promoting complex activity (GO:0060564)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)	p.S195G(1)		breast(2)|kidney(2)|large_intestine(2)|lung(3)	9						GCCACCATGCTATTTACTTTG	0.383																																						uc003idl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(583-585)AGC>GGC		MAD2-like 1							128.0	124.0	125.0					4																	120981308		2203	4300	6503	SO:0001583	missense	4085				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of apoptosis|negative regulation of mitotic anaphase-promoting complex activity|positive regulation of mitotic cell cycle spindle assembly checkpoint	condensed chromosome kinetochore|cytosol|nucleus|perinuclear region of cytoplasm	protein homodimerization activity	g.chr4:120981308T>C	U65410	CCDS3715.1	4q27	2013-01-17	2001-11-28		ENSG00000164109	ENSG00000164109			6763	protein-coding gene	gene with protein product		601467	"""MAD2 (mitotic arrest deficient, yeast, homolog)-like 1"""			8824189, 9345911	Standard	NM_002358		Approved	MAD2, HSMAD2	uc003idl.2	Q13257	OTTHUMG00000132967	ENST00000296509.6:c.583A>G	4.37:g.120981308T>C	ENSP00000296509:p.Ser195Gly					MAD2L1_uc003idm.2_3'UTR	p.S195G	NM_002358	NP_002349	Q13257	MD2L1_HUMAN			5	707	-			195	S->D: Abolishes interaction with MAD1L1 and reduces interaction with CDC20; when associated with D-170 and D-178.|S->A: Abolishes phosphorylation on serine residues; when associated with A-170 and A-178.		HORMA.|Required for assuming the closed conformation and for interaction with CDC20.		Q53F56|Q548X9|Q6IRW7|Q8IZX3	Missense_Mutation	SNP	ENST00000296509.6	37	c.583A>G	CCDS3715.1	.	.	.	.	.	.	.	.	.	.	T	16.93	3.258529	0.59321	.	.	ENSG00000164109	ENST00000296509	.	.	.	5.13	5.13	0.70059	DNA-binding HORMA (3);	0.000000	0.85682	D	0.000000	T	0.57770	0.2076	L	0.50919	1.6	0.80722	D	1	B	0.17465	0.022	B	0.13407	0.009	T	0.56098	-0.8035	9	0.46703	T	0.11	-23.0635	15.224	0.73336	0.0:0.0:0.0:1.0	.	195	Q13257	MD2L1_HUMAN	G	195	.	ENSP00000296509:S195G	S	-	1	0	MAD2L1	121200756	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.510000	0.81708	2.055000	0.61198	0.482000	0.46254	AGC		PASS	0.383	MAD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256525.2			8	186	8	186	---	---	---	---
SPATA5	166378	broad.mit.edu	37	4	124177257	124177257	+	Silent	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:124177257G>A	ENST00000274008.4	+	15	2496	c.2427G>A	c.(2425-2427)caG>caA	p.Q809Q		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	809					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)	p.Q809Q(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TTAAGCTGCAGTTTCACTCCA	0.423																																						uc003iez.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(2425-2427)CAG>CAA		spermatogenesis associated 5							145.0	135.0	138.0					4																	124177257		2203	4300	6503	SO:0001819	synonymous_variant	166378				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	g.chr4:124177257G>A	AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.2427G>A	4.37:g.124177257G>A							p.Q809Q	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN			15	2500	+			809					C9JT97|Q86XW1|Q8NI20|Q8TDL7	Silent	SNP	ENST00000274008.4	37	c.2427G>A	CCDS3730.1																																																																																				PASS	0.423	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256714.2	NM_145207		39	149	39	149	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151770705	151770705	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:151770705C>A	ENST00000357115.3	-	25	4270	c.4027G>T	c.(4027-4029)Gac>Tac	p.D1343Y	LRBA_ENST00000535741.1_Missense_Mutation_p.D1343Y|LRBA_ENST00000507224.1_Missense_Mutation_p.D1343Y|LRBA_ENST00000510413.1_Missense_Mutation_p.D1343Y	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1343						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.D1343Y(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TTCACGAAGTCCATAACTGTC	0.383																																						uc010ipj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(4027-4029)GAC>TAC		LPS-responsive vesicle trafficking, beach and							162.0	143.0	150.0					4																	151770705		2203	4300	6503	SO:0001583	missense	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151770705C>A	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4027G>T	4.37:g.151770705C>A	ENSP00000349629:p.Asp1343Tyr					LRBA_uc003ilt.3_Missense_Mutation_p.D2Y|LRBA_uc003ilu.3_Missense_Mutation_p.D1343Y	p.D1343Y	NM_006726	NP_006717	P50851	LRBA_HUMAN			25	4501	-	all_hematologic(180;0.151)		1343			WD 1.		Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	ENST00000357115.3	37	c.4027G>T	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.930246	0.92389	.	.	ENSG00000198589	ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	T;T;T;T	0.71222	-0.11;0.04;-0.11;-0.55	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.86037	0.5837	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86594	0.1862	10	0.87932	D	0	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	1343;1343	P50851;P50851-2	LRBA_HUMAN;.	Y	1343	ENSP00000446299:D1343Y;ENSP00000421552:D1343Y;ENSP00000349629:D1343Y;ENSP00000422180:D1343Y	ENSP00000349629:D1343Y	D	-	1	0	LRBA	151990155	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.813000	0.96785	0.655000	0.94253	GAC		PASS	0.383	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			16	113	16	113	---	---	---	---
DCHS2	54798	broad.mit.edu	37	4	155256175	155256175	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:155256175C>A	ENST00000357232.4	-	8	1060	c.1061G>T	c.(1060-1062)gGg>gTg	p.G354V	DCHS2_ENST00000339452.1_Missense_Mutation_p.G853V|DCHS2_ENST00000507542.1_5'UTR	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	354	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.G853V(1)|p.G354V(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGCTGTGAGCCCACCACCGTC	0.418																																						uc003inw.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(1060-1062)GGG>GTG		dachsous 2 isoform 1							104.0	105.0	105.0					4																	155256175		2203	4300	6503	SO:0001583	missense	54798				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:155256175C>A	BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1061G>T	4.37:g.155256175C>A	ENSP00000349768:p.Gly354Val					DCHS2_uc003inx.2_Missense_Mutation_p.G853V	p.G354V	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.107)	8	1061	-	all_hematologic(180;0.208)	Renal(120;0.0854)	354			Cadherin 2.		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	ENST00000357232.4	37	c.1061G>T	CCDS3785.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.439966	0.83993	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.59083	0.29;0.63	6.17	6.17	0.99709	Cadherin (3);	0.000000	0.64402	D	0.000002	T	0.72622	0.3483	L	0.45422	1.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.71994	-0.4424	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	853;354	E9PC11;Q6V1P9	.;PCD23_HUMAN	V	354;853;853	ENSP00000349768:G354V;ENSP00000345062:G853V	ENSP00000345062:G853V	G	-	2	0	DCHS2	155475625	1.000000	0.71417	0.996000	0.52242	0.550000	0.35303	5.545000	0.67237	2.941000	0.99782	0.655000	0.94253	GGG		PASS	0.418	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365281.2	NM_001142552		11	139	11	139	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	167020662	167020662	+	Silent	SNP	C	C	A	rs541756882		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:167020662C>A	ENST00000061240.2	+	20	3537	c.2890C>A	c.(2890-2892)Cga>Aga	p.R964R	TLL1_ENST00000507499.1_Silent_p.R987R	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	964	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R964R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGGGCTTGGTCGATTCTGTGG	0.423																																						uc003irh.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(2890-2892)CGA>AGA		tolloid-like 1 precursor							178.0	183.0	182.0					4																	167020662		2203	4300	6503	SO:0001819	synonymous_variant	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:167020662C>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.2890C>A	4.37:g.167020662C>A						TLL1_uc011cjn.1_Silent_p.R987R|TLL1_uc011cjo.1_Silent_p.R788R	p.R964R	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	20	3537	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	964			CUB 5.		B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	ENST00000061240.2	37	c.2890C>A	CCDS3811.1																																																																																				PASS	0.423	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			5	292	5	292	---	---	---	---
AGA	175	broad.mit.edu	37	4	178360790	178360790	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr4:178360790T>C	ENST00000264595.2	-	3	461	c.334A>G	c.(334-336)Att>Gtt	p.I112V	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	112					protein deglycosylation (GO:0006517)|protein maturation (GO:0051604)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity (GO:0003948)|peptidase activity (GO:0008233)	p.I112V(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		GCCACACCAATAGCATTTTTA	0.368																																						uc003iuu.1																			1	Substitution - Missense(1)		lung(1)		0						c.(334-336)ATT>GTT		aspartylglucosaminidase precursor							224.0	214.0	217.0					4																	178360790		2203	4300	6503	SO:0001583	missense	175				asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity	g.chr4:178360790T>C	X55330	CCDS3829.1	4q34.3	2014-06-23			ENSG00000038002	ENSG00000038002	3.5.1.26		318	protein-coding gene	gene with protein product	"""glycosylasparaginase"", ""N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase"""	613228					Standard	NM_000027		Approved	ASRG	uc003iuu.2	P20933	OTTHUMG00000160723	ENST00000264595.2:c.334A>G	4.37:g.178360790T>C	ENSP00000264595:p.Ile112Val					AGA_uc003iuv.1_Missense_Mutation_p.I16V|AGA_uc003iuw.2_Missense_Mutation_p.I16V	p.I112V	NM_000027	NP_000018	P20933	ASPG_HUMAN		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)	3	396	-		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)	112					B2R7H2|D3DP47|Q4W5Q2|Q6FHN6|Q9UCK6|Q9UCK7|Q9UCK8	Missense_Mutation	SNP	ENST00000264595.2	37	c.334A>G	CCDS3829.1	.	.	.	.	.	.	.	.	.	.	T	16.03	3.005931	0.54254	.	.	ENSG00000038002	ENST00000264595	D	0.89681	-2.55	5.93	4.75	0.60458	.	0.047275	0.85682	D	0.000000	D	0.86518	0.5952	L	0.37800	1.135	0.58432	D	0.999995	B	0.23806	0.091	B	0.37943	0.261	T	0.82627	-0.0364	10	0.48119	T	0.1	-10.726	11.7123	0.51633	0.0:0.0694:0.0:0.9306	.	112	P20933	ASPG_HUMAN	V	112	ENSP00000264595:I112V	ENSP00000264595:I112V	I	-	1	0	AGA	178597784	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	4.194000	0.58393	1.070000	0.40811	0.533000	0.62120	ATT		PASS	0.368	AGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361916.1	NM_000027		83	546	83	546	---	---	---	---
FAM173B	134145	broad.mit.edu	37	5	10239279	10239279	+	Missense_Mutation	SNP	G	G	A	rs367602123		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr5:10239279G>A	ENST00000511437.1	-	2	218	c.206C>T	c.(205-207)cCg>cTg	p.P69L	FAM173B_ENST00000510047.1_Missense_Mutation_p.P69L|FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	69						integral component of membrane (GO:0016021)		p.P69L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						AGGTACAAACGGCAAACAGAC	0.527																																						uc003jeo.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(205-207)CCG>CTG		hypothetical protein LOC134145		G	LEU/PRO	0,4074		0,0,2037	114.0	112.0	113.0		206	5.2	0.9	5		113	1,8351		0,1,4175	no	missense	FAM173B	NM_199133.2	98	0,1,6212	AA,AG,GG		0.012,0.0,0.0080	probably-damaging	69/234	10239279	1,12425	2037	4176	6213	SO:0001583	missense	134145					integral to membrane		g.chr5:10239279G>A		CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.206C>T	5.37:g.10239279G>A	ENSP00000422338:p.Pro69Leu					FAM173B_uc003jep.2_RNA|FAM173B_uc010itr.2_Missense_Mutation_p.P69L	p.P69L	NM_199133	NP_954584	Q6P4H8	F173B_HUMAN			2	235	-			69					B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	ENST00000511437.1	37	c.206C>T	CCDS43301.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.184241	0.78677	0.0	1.2E-4	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.23950	1.88;1.88	5.19	5.19	0.71726	.	0.000000	0.85682	D	0.000000	T	0.59376	0.2189	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.993	T	0.68179	-0.5477	10	0.87932	D	0	-16.8539	17.7316	0.88379	0.0:0.0:1.0:0.0	.	69;69	E9PBZ4;Q6P4H8	.;F173B_HUMAN	L	69	ENSP00000422338:P69L;ENSP00000420876:P69L	ENSP00000424210:P69L	P	-	2	0	FAM173B	10292279	1.000000	0.71417	0.927000	0.36925	0.361000	0.29550	8.798000	0.91888	2.430000	0.82344	0.655000	0.94253	CCG		PASS	0.527	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000366048.2	NM_199133		71	189	71	189	---	---	---	---
MARCH6	10299	broad.mit.edu	37	5	10402650	10402650	+	Silent	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr5:10402650T>C	ENST00000274140.5	+	14	1260	c.1128T>C	c.(1126-1128)tcT>tcC	p.S376S	MARCH6_ENST00000449913.2_Silent_p.S328S|MARCH6_ENST00000510792.1_Silent_p.S74S|MARCH6_ENST00000503788.1_Silent_p.S271S	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	376					protein K48-linked ubiquitination (GO:0070936)	integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	enzyme binding (GO:0019899)|ligase activity (GO:0016874)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S376S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTAAGGTCTCTTTGTTAGTGG	0.338																																						uc003jet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(1126-1128)TCT>TCC		membrane-associated ring finger (C3HC4) 6							371.0	356.0	361.0					5																	10402650		2203	4300	6503	SO:0001819	synonymous_variant	10299				protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr5:10402650T>C	AB011169	CCDS34135.1, CCDS59487.1, CCDS59488.1	5p15.2	2013-01-09	2012-02-23		ENSG00000145495	ENSG00000145495		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	30550	protein-coding gene	gene with protein product		613297	"""membrane-associated ring finger (C3HC4) 6"""			14722266	Standard	NM_001270660		Approved	TEB4, MARCH-VI, RNF176	uc003jet.2	O60337	OTTHUMG00000162027	ENST00000274140.5:c.1128T>C	5.37:g.10402650T>C						MARCH6_uc011cmu.1_Silent_p.S328S|MARCH6_uc003jeu.1_Silent_p.S74S|MARCH6_uc011cmv.1_Silent_p.S271S	p.S376S	NM_005885	NP_005876	O60337	MARH6_HUMAN			14	1311	+			376			Cytoplasmic (Potential).		A5PKZ4|B4DKJ2|B4DT33|D3DTC8|O14670|Q86X77	Silent	SNP	ENST00000274140.5	37	c.1128T>C	CCDS34135.1																																																																																				PASS	0.338	MARCH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366919.2	NM_005885		18	524	18	524	---	---	---	---
H2AFY	9555	broad.mit.edu	37	5	134724756	134724756	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr5:134724756A>G	ENST00000511689.1	-	2	621	c.28T>C	c.(28-30)Tcc>Ccc	p.S10P	H2AFY_ENST00000312469.4_Missense_Mutation_p.S10P|H2AFY_ENST00000304332.4_Missense_Mutation_p.S10P|H2AFY_ENST00000423969.2_Missense_Mutation_p.S10P|H2AFY_ENST00000510038.1_Missense_Mutation_p.S10P	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	10	Histone H2A.				chromatin modification (GO:0016568)|dosage compensation (GO:0007549)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of cell cycle G2/M phase transition (GO:1902750)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of histone phosphorylation (GO:0033128)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|nucleosome assembly (GO:0006334)	Barr body (GO:0001740)|condensed chromosome (GO:0000793)|extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleosome (GO:0000786)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|sex chromatin (GO:0001739)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|double-stranded methylated DNA binding (GO:0010385)|protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|rDNA binding (GO:0000182)|transcription regulatory region DNA binding (GO:0044212)	p.S10P(2)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTTGGTGGACTTCTTCTTC	0.612																																						uc003lam.1																			2	Substitution - Missense(2)		lung(2)		0						c.(28-30)TCC>CCC		H2A histone family, member Y isoform 3							99.0	81.0	87.0					5																	134724756		2203	4300	6503	SO:0001583	missense	9555				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding	g.chr5:134724756A>G	AF054174	CCDS4183.1, CCDS4184.1, CCDS4185.1	5q31.1	2011-01-27			ENSG00000113648	ENSG00000113648		"""Histones / Replication-independent"""	4740	protein-coding gene	gene with protein product		610054				9653160, 9714746	Standard	NM_004893		Approved	macroH2A1.2	uc003lam.1	O75367	OTTHUMG00000129141	ENST00000511689.1:c.28T>C	5.37:g.134724756A>G	ENSP00000423563:p.Ser10Pro					H2AFY_uc003lao.1_Missense_Mutation_p.S10P|H2AFY_uc003lan.1_Missense_Mutation_p.S10P|H2AFY_uc003lap.1_RNA|H2AFY_uc003laq.1_RNA|H2AFY_uc003lar.1_RNA|H2AFY_uc011cxz.1_Missense_Mutation_p.S10P|H2AFY_uc003las.1_Missense_Mutation_p.S10P|H2AFY_uc003lat.1_Missense_Mutation_p.S10P	p.S10P	NM_138610	NP_613258	O75367	H2AY_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		2	238	-			10			Histone H2A.		O75377|Q503A8|Q7Z5E3|Q96D41|Q9H8P3|Q9UP96	Missense_Mutation	SNP	ENST00000511689.1	37	c.28T>C	CCDS4185.1	.	.	.	.	.	.	.	.	.	.	A	13.61	2.287814	0.40494	.	.	ENSG00000113648	ENST00000511689;ENST00000304332;ENST00000312469;ENST00000423969;ENST00000510038	T;T;T;D;T	0.85013	1.88;1.88;1.88;-1.93;1.88	5.11	3.92	0.45320	Histone-fold (1);Histone H2A (1);	0.529812	0.20874	N	0.084105	T	0.77850	0.4192	L	0.39566	1.225	0.39698	D	0.971149	B;B;B;B	0.20368	0.007;0.044;0.044;0.026	B;B;B;B	0.20577	0.008;0.018;0.03;0.008	T	0.73668	-0.3910	10	0.62326	D	0.03	.	7.3989	0.26952	0.7075:0.1496:0.0:0.143	.	10;10;10;10	B4DJC3;O75367-3;O75367-2;O75367	.;.;.;H2AY_HUMAN	P	10	ENSP00000423563:S10P;ENSP00000302572:S10P;ENSP00000310169:S10P;ENSP00000415121:S10P;ENSP00000424971:S10P	ENSP00000302572:S10P	S	-	1	0	H2AFY	134752655	1.000000	0.71417	0.997000	0.53966	0.981000	0.71138	1.215000	0.32431	0.936000	0.37367	0.467000	0.42956	TCC		PASS	0.612	H2AFY-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251196.3	NM_004893		7	59	7	59	---	---	---	---
PSD2	84249	broad.mit.edu	37	5	139216470	139216470	+	Missense_Mutation	SNP	C	C	T	rs541258961	byFrequency	TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr5:139216470C>T	ENST00000274710.3	+	10	1683	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	493					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)	p.T493M(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAAGGTGACGCGAATCCTG	0.587													C|||	2	0.000399361	0.0	0.0	5008	,	,		20898	0.0		0.0	False		,,,				2504	0.002					uc003leu.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1477-1479)ACG>ATG		pleckstrin and Sec7 domain containing 2							181.0	159.0	167.0					5																	139216470		2203	4300	6503	SO:0001583	missense	84249				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity	g.chr5:139216470C>T	AL136559	CCDS4216.1	5q31.3	2013-01-10			ENSG00000146005	ENSG00000146005		"""Pleckstrin homology (PH) domain containing"""	19092	protein-coding gene	gene with protein product							Standard	NM_032289		Approved	DKFZp761B0514	uc003leu.1	Q9BQI7	OTTHUMG00000129240	ENST00000274710.3:c.1478C>T	5.37:g.139216470C>T	ENSP00000274710:p.Thr493Met						p.T493M	NM_032289	NP_115665	Q9BQI7	PSD2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1683	+			493					D3DQD3|Q8N3J8	Missense_Mutation	SNP	ENST00000274710.3	37	c.1478C>T	CCDS4216.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962370	0.74016	.	.	ENSG00000146005	ENST00000274710	T	0.12672	2.66	5.37	5.37	0.77165	.	0.110301	0.64402	D	0.000006	T	0.19287	0.0463	L	0.44542	1.39	0.42771	D	0.993834	D	0.61697	0.99	P	0.49361	0.608	T	0.00388	-1.1771	10	0.59425	D	0.04	.	13.9842	0.64324	0.1516:0.8484:0.0:0.0	.	493	Q9BQI7	PSD2_HUMAN	M	493	ENSP00000274710:T493M	ENSP00000274710:T493M	T	+	2	0	PSD2	139196654	0.996000	0.38824	0.993000	0.49108	0.934000	0.57294	3.430000	0.52807	2.524000	0.85096	0.555000	0.69702	ACG		PASS	0.587	PSD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251339.1	NM_032289		9	291	9	291	---	---	---	---
PCDHB1	29930	broad.mit.edu	37	5	140433228	140433228	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr5:140433228A>G	ENST00000306549.3	+	1	2250	c.2173A>G	c.(2173-2175)Aca>Gca	p.T725A		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	725					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T725A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAAAAGTTCACAATTCAAGA	0.373																																						uc003lik.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2173-2175)ACA>GCA		protocadherin beta 1 precursor							93.0	94.0	93.0					5																	140433228		2203	4300	6503	SO:0001583	missense	29930				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140433228A>G	AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2173A>G	5.37:g.140433228A>G	ENSP00000307234:p.Thr725Ala						p.T725A	NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2250	+			725			Cytoplasmic (Potential).		Q2M257	Missense_Mutation	SNP	ENST00000306549.3	37	c.2173A>G	CCDS4243.1	.	.	.	.	.	.	.	.	.	.	A	12.40	1.926819	0.34002	.	.	ENSG00000171815	ENST00000306549	T	0.12465	2.68	5.91	4.73	0.59995	.	0.000000	0.48767	D	0.000161	T	0.12433	0.0302	L	0.40543	1.245	0.30705	N	0.749917	B	0.16166	0.016	B	0.09377	0.004	T	0.04454	-1.0950	10	0.41790	T	0.15	.	11.4767	0.50302	0.8492:0.1508:0.0:0.0	.	725	Q9Y5F3	PCDB1_HUMAN	A	725	ENSP00000307234:T725A	ENSP00000307234:T725A	T	+	1	0	PCDHB1	140413412	0.005000	0.15991	0.978000	0.43139	0.977000	0.68977	0.799000	0.27028	1.045000	0.40225	0.533000	0.62120	ACA		PASS	0.373	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251822.2	NM_013340		40	148	40	148	---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150715081	150715081	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr5:150715081T>A	ENST00000335244.4	-	6	682	c.553A>T	c.(553-555)Aac>Tac	p.N185Y	SLC36A2_ENST00000521967.1_Missense_Mutation_p.N185Y	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	185					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.N185Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TAGCAGTTGTTGGTTGTGCTA	0.517																																						uc003lty.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(553-555)AAC>TAC		solute carrier family 36, member 2							215.0	201.0	206.0					5																	150715081		2203	4300	6503	SO:0001583	missense	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150715081T>A	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.553A>T	5.37:g.150715081T>A	ENSP00000334223:p.Asn185Tyr					GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.N185Y	p.N185Y	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	683	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	185			Extracellular (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	ENST00000335244.4	37	c.553A>T	CCDS4315.1	.	.	.	.	.	.	.	.	.	.	T	10.19	1.281776	0.23392	.	.	ENSG00000186335	ENST00000335244;ENST00000521967	T;T	0.10763	3.65;2.84	4.52	0.483	0.16820	.	1.175480	0.05872	N	0.624741	T	0.17365	0.0417	M	0.77820	2.39	0.28378	N	0.919652	P;P	0.34826	0.471;0.471	B;B	0.42738	0.396;0.396	T	0.44050	-0.9353	10	0.06891	T	0.86	-0.5632	7.2981	0.26405	0.0:0.0755:0.2704:0.6541	.	185;185	E5RJJ5;Q495M3	.;S36A2_HUMAN	Y	185	ENSP00000334223:N185Y;ENSP00000430535:N185Y	ENSP00000334223:N185Y	N	-	1	0	SLC36A2	150695274	0.002000	0.14202	0.004000	0.12327	0.103000	0.19146	0.027000	0.13621	0.338000	0.23692	-0.313000	0.08912	AAC		PASS	0.517	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			33	141	33	141	---	---	---	---
KIAA0319	9856	broad.mit.edu	37	6	24569156	24569156	+	Splice_Site	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:24569156C>A	ENST00000378214.3	-	13	2517	c.1993G>T	c.(1993-1995)Ggc>Tgc	p.G665C	KIAA0319_ENST00000430948.2_Splice_Site_p.G620C|KIAA0319_ENST00000543707.1_Splice_Site_p.G665C|KIAA0319_ENST00000535378.1_Splice_Site_p.G656C|KIAA0319_ENST00000537886.1_Splice_Site_p.G665C	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	665	PKD 4. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G665C(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GCACTGGGGCCTCTATAAAAC	0.453																																						uc011djo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1993-1995)GGC>TGC		KIAA0319 precursor							69.0	66.0	67.0					6																	24569156		2203	4300	6503	SO:0001630	splice_region_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24569156C>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.1992-1G>T	6.37:g.24569156C>A						KIAA0319_uc011djp.1_Missense_Mutation_p.G620C|KIAA0319_uc003neh.1_Missense_Mutation_p.G665C|KIAA0319_uc011djq.1_Missense_Mutation_p.G656C|KIAA0319_uc011djr.1_Missense_Mutation_p.G665C|KIAA0319_uc010jpt.1_Missense_Mutation_p.G76C	p.G665C	NM_014809	NP_055624	Q5VV43	K0319_HUMAN			13	2230	-			665			PKD 4.|Extracellular (Potential).		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.1993G>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.851925	0.71719	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69	3.73	3.73	0.42828	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (1);	0.157646	0.39615	N	0.001305	T	0.58836	0.2150	H	0.96662	3.86	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.76228	-0.3036	10	0.87932	D	0	-19.8228	15.7103	0.77623	0.0:1.0:0.0:0.0	.	665;656;665	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	C	665;656;620;665;665	ENSP00000439700:G665C;ENSP00000442403:G656C;ENSP00000401086:G620C;ENSP00000367459:G665C;ENSP00000437656:G665C	ENSP00000367459:G665C	G	-	1	0	KIAA0319	24677135	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.613000	0.67688	1.906000	0.55180	0.585000	0.79938	GGC		PASS	0.453	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	Missense_Mutation	18	64	18	64	---	---	---	---
SCUBE3	222663	broad.mit.edu	37	6	35209433	35209433	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:35209433C>T	ENST00000274938.7	+	11	1309	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	SCUBE3_ENST00000394681.1_Missense_Mutation_p.P453S	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3									p.P437S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCGATTTTTGCCAGGTACATG	0.602											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003okf.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1309-1311)CCA>TCA		signal peptide, CUB domain, EGF-like 3							72.0	74.0	73.0					6																	35209433		2203	4300	6503	SO:0001583	missense	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35209433C>T	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.1309C>T	6.37:g.35209433C>T	ENSP00000274938:p.Pro437Ser		OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	853	SCUBE3_uc003okg.1_Missense_Mutation_p.P436S|SCUBE3_uc003okh.1_Missense_Mutation_p.P324S	p.P437S	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN			11	1315	+			437						Missense_Mutation	SNP	ENST00000274938.7	37	c.1309C>T	CCDS4800.1	.	.	.	.	.	.	.	.	.	.	C	8.740	0.918820	0.17982	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.81579	-1.09;-1.51	5.61	4.73	0.59995	.	0.293460	0.39759	N	0.001278	T	0.38427	0.1040	N	0.03608	-0.345	0.46078	D	0.998855	B;B	0.13594	0.008;0.005	B;B	0.13407	0.009;0.004	T	0.46062	-0.9218	10	0.02654	T	1	.	13.9229	0.63942	0.0:0.9275:0.0:0.0725	.	453;437	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	S	453;437	ENSP00000378174:P453S;ENSP00000274938:P437S	ENSP00000274938:P437S	P	+	1	0	SCUBE3	35317411	0.984000	0.35163	1.000000	0.80357	0.680000	0.39746	1.670000	0.37502	2.629000	0.89072	0.650000	0.86243	CCA		PASS	0.602	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		4	185	4	185	---	---	---	---
PI16	221476	broad.mit.edu	37	6	36930839	36930839	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:36930839C>T	ENST00000373674.3	+	5	1049	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	PI16_ENST00000491324.1_Intron	NM_001199159.1|NM_153370.2	NP_001186088.1|NP_699201.2	Q6UXB8	PI16_HUMAN	peptidase inhibitor 16	241					negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	peptidase inhibitor activity (GO:0030414)	p.P241S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AACGGGGATTCCGGCTTTCTT	0.562																																						uc003ona.2																			1	Substitution - Missense(1)		lung(1)		0						c.(721-723)CCG>TCG		protease inhibitor 16 precursor							107.0	100.0	102.0					6																	36930839		2203	4300	6503	SO:0001583	missense	221476					extracellular region|integral to membrane	peptidase inhibitor activity	g.chr6:36930839C>T		CCDS34440.1	6p21.31	2014-01-28	2005-08-17		ENSG00000164530	ENSG00000164530			21245	protein-coding gene	gene with protein product	"""microseminoprotein, beta-binding protein"""		"""protease inhibitor 16"""				Standard	NM_001199159		Approved	MGC45378, dJ90K10.5, MSMBBP	uc003ona.3	Q6UXB8	OTTHUMG00000014611	ENST00000373674.3:c.721C>T	6.37:g.36930839C>T	ENSP00000362778:p.Pro241Ser					PI16_uc003omz.1_Intron|PI16_uc003onb.2_Intron|PI16_uc011dts.1_Missense_Mutation_p.P12S	p.P241S	NM_153370	NP_699201	Q6UXB8	PI16_HUMAN			5	1049	+			241			Extracellular (Potential).		Q6ZVG9|Q8IYL8|Q8NBK0|Q8TCB8	Missense_Mutation	SNP	ENST00000373674.3	37	c.721C>T	CCDS34440.1	.	.	.	.	.	.	.	.	.	.	C	8.400	0.841820	0.16963	.	.	ENSG00000164530	ENST00000373674;ENST00000539035	T	0.06849	3.25	4.47	2.59	0.31030	.	0.789570	0.11132	N	0.596145	T	0.02688	0.0081	L	0.44542	1.39	0.20563	N	0.999887	P	0.44241	0.829	B	0.41571	0.36	T	0.41627	-0.9498	10	0.16896	T	0.51	.	9.1637	0.37038	0.1655:0.6745:0.1599:0.0	.	241	Q6UXB8	PI16_HUMAN	S	241;93	ENSP00000362778:P241S	ENSP00000362778:P241S	P	+	1	0	PI16	37038817	0.000000	0.05858	0.005000	0.12908	0.629000	0.37895	0.299000	0.19138	0.754000	0.32968	0.591000	0.81541	CCG		PASS	0.562	PI16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040380.1	NM_153370		8	297	8	297	---	---	---	---
MCHR2	84539	broad.mit.edu	37	6	100369022	100369022	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:100369022C>A	ENST00000281806.2	-	6	1131	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L	MCHR2_ENST00000369212.2_Missense_Mutation_p.V273L	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	273						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.V273L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		TGTAAGTTCACCAGTTGTATC	0.468																																						uc003pqh.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	8						c.(817-819)GTG>TTG		melanin-concentrating hormone receptor 2							205.0	181.0	189.0					6																	100369022		2203	4300	6503	SO:0001583	missense	84539					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:100369022C>A	AF347063	CCDS5044.1	6q16	2012-08-08	2006-02-15	2006-02-15	ENSG00000152034	ENSG00000152034		"""GPCR / Class A : MCH receptors"""	20867	protein-coding gene	gene with protein product		606111	"""G protein-coupled receptor 145"""	GPR145		11355873, 11274220	Standard	NM_032503		Approved	SLT, MCH2, MCH2R	uc003pqi.1	Q969V1	OTTHUMG00000015270	ENST00000281806.2:c.817G>T	6.37:g.100369022C>A	ENSP00000281806:p.Val273Leu					MCHR2_uc003pqi.1_Missense_Mutation_p.V273L	p.V273L	NM_001040179	NP_001035269	Q969V1	MCHR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0429)	6	1132	-		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)	273			Helical; Name=6; (Potential).		B3KVW4|E1P5D7|Q5VTV7|Q6Q377|Q9BXA8	Missense_Mutation	SNP	ENST00000281806.2	37	c.817G>T	CCDS5044.1	.	.	.	.	.	.	.	.	.	.	C	15.18	2.755792	0.49362	.	.	ENSG00000152034	ENST00000445970;ENST00000281806;ENST00000369212	T;T;T	0.34472	1.36;1.36;1.36	5.05	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.097402	0.39475	N	0.001342	T	0.18215	0.0437	L	0.45470	1.425	0.37434	D	0.914132	B	0.15473	0.013	B	0.19666	0.026	T	0.04522	-1.0945	10	0.45353	T	0.12	.	12.7254	0.57168	0.1654:0.8346:0.0:0.0	.	273	Q969V1	MCHR2_HUMAN	L	273	ENSP00000403490:V273L;ENSP00000281806:V273L;ENSP00000358214:V273L	ENSP00000281806:V273L	V	-	1	0	MCHR2	100475743	1.000000	0.71417	0.998000	0.56505	0.875000	0.50365	2.090000	0.41682	1.109000	0.41680	0.655000	0.94253	GTG		PASS	0.468	MCHR2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041620.2	NM_032503		36	151	36	151	---	---	---	---
ASCC3	10973	broad.mit.edu	37	6	100957342	100957342	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:100957342G>C	ENST00000369162.2	-	42	6873	c.6529C>G	c.(6529-6531)Ctc>Gtc	p.L2177V		NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	2177					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)	p.L2177V(1)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAACGTTGAGATAGATGTCA	0.388																																						uc003pqk.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(6529-6531)CTC>GTC		activating signal cointegrator 1 complex subunit							187.0	180.0	182.0					6																	100957342		2203	4300	6503	SO:0001583	missense	10973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr6:100957342G>C	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.6529C>G	6.37:g.100957342G>C	ENSP00000358159:p.Leu2177Val						p.L2177V	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)	42	6858	-		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)	2177			SEC63 3.		E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Missense_Mutation	SNP	ENST00000369162.2	37	c.6529C>G	CCDS5046.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.224687	0.79576	.	.	ENSG00000112249	ENST00000369162	T	0.58210	0.35	6.02	6.02	0.97574	Sec63 domain (2);	0.000000	0.64402	D	0.000002	T	0.38026	0.1025	L	0.50333	1.59	0.80722	D	1	P	0.42337	0.776	P	0.44811	0.461	T	0.40572	-0.9556	10	0.02654	T	1	.	20.547	0.99278	0.0:0.0:1.0:0.0	.	2177	Q8N3C0	HELC1_HUMAN	V	2177	ENSP00000358159:L2177V	ENSP00000358159:L2177V	L	-	1	0	ASCC3	101064063	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.214000	0.95140	2.850000	0.98022	0.650000	0.86243	CTC		PASS	0.388	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828		5	304	5	304	---	---	---	---
HACE1	57531	broad.mit.edu	37	6	105177550	105177550	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:105177550T>C	ENST00000262903.4	-	24	2993	c.2717A>G	c.(2716-2718)tAc>tGc	p.Y906C	HACE1_ENST00000369125.2_Missense_Mutation_p.Y691C|HACE1_ENST00000517995.1_5'UTR	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	906	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cell cycle (GO:0007049)|Golgi organization (GO:0007030)|membrane fusion (GO:0061025)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Rac protein signal transduction (GO:0016601)|regulation of cell migration (GO:0030334)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Rab GTPase binding (GO:0017137)|Rac GTPase binding (GO:0048365)|ubiquitin-protein transferase activity (GO:0004842)	p.Y906C(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGCCATTGTGTAACCATAGCT	0.388																																						uc003pqu.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(2)	7						c.(2716-2718)TAC>TGC		HECT domain and ankyrin repeat containing, E3							125.0	119.0	121.0					6																	105177550		2203	4300	6503	SO:0001583	missense	57531				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity	g.chr6:105177550T>C	BC034982	CCDS5050.1	6q21	2013-01-10	2012-02-23		ENSG00000085382	ENSG00000085382		"""Ankyrin repeat domain containing"""	21033	protein-coding gene	gene with protein product		610876				10718198	Standard	NM_020771		Approved	KIAA1320	uc003pqu.1	Q8IYU2	OTTHUMG00000015287	ENST00000262903.4:c.2717A>G	6.37:g.105177550T>C	ENSP00000262903:p.Tyr906Cys					HACE1_uc010kcy.1_Missense_Mutation_p.Y388C|HACE1_uc010kcz.1_Missense_Mutation_p.Y691C|HACE1_uc010kcx.1_Missense_Mutation_p.Y315C|HACE1_uc003pqt.1_Missense_Mutation_p.Y559C	p.Y906C	NM_020771	NP_065822	Q8IYU2	HACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)	24	2994	-		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)	906			HECT.		A8K6U5|B3KY89|B4DFM6|B4DTQ4|B7Z9X6|E9PGP0|Q5VU99|Q5VUA0|Q8ND12|Q9P2M6	Missense_Mutation	SNP	ENST00000262903.4	37	c.2717A>G	CCDS5050.1	.	.	.	.	.	.	.	.	.	.	T	18.54	3.646905	0.67358	.	.	ENSG00000085382	ENST00000262903;ENST00000369125	T;T	0.59224	0.28;0.28	5.94	5.94	0.96194	HECT (3);	0.000000	0.85682	D	0.000000	T	0.66963	0.2843	L	0.54323	1.7	0.37773	D	0.926756	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.87578	0.998;0.979;0.997;0.998	T	0.72004	-0.4421	10	0.87932	D	0	.	16.462	0.84059	0.0:0.0:0.0:1.0	.	691;395;906;559	E9PGP0;B4DFM6;Q8IYU2;Q8IYU2-3	.;.;HACE1_HUMAN;.	C	906;691	ENSP00000262903:Y906C;ENSP00000358121:Y691C	ENSP00000262903:Y906C	Y	-	2	0	HACE1	105284243	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.382000	0.79729	2.284000	0.76573	0.524000	0.50904	TAC		PASS	0.388	HACE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041643.2	XM_045095		10	66	10	66	---	---	---	---
SAMD3	154075	broad.mit.edu	37	6	130475977	130475977	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:130475977G>A	ENST00000368134.2	-	11	1624	c.1016C>T	c.(1015-1017)cCt>cTt	p.P339L	SAMD3_ENST00000457563.2_Missense_Mutation_p.P363L|SAMD3_ENST00000439090.2_Missense_Mutation_p.P339L|SAMD3_ENST00000437477.2_Missense_Mutation_p.P339L	NM_001258275.1	NP_001245204.1	Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	339								p.P339L(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TACCTGATAAGGGCACTTCAA	0.299																																						uc003qbv.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1015-1017)CCT>CTT		sterile alpha motif domain containing 3 isoform							60.0	55.0	57.0					6																	130475977		2203	4300	6503	SO:0001583	missense	154075							g.chr6:130475977G>A	AK091351	CCDS34539.1, CCDS64525.1	6q23.1	2013-01-10			ENSG00000164483	ENSG00000164483		"""Sterile alpha motif (SAM) domain containing"""	21574	protein-coding gene	gene with protein product							Standard	NM_001017373		Approved	bA73O6.2, FLJ34032	uc031spp.1	Q8N6K7	OTTHUMG00000015556	ENST00000368134.2:c.1016C>T	6.37:g.130475977G>A	ENSP00000357116:p.Pro339Leu					SAMD3_uc003qbx.2_Missense_Mutation_p.P339L|SAMD3_uc003qbw.2_Missense_Mutation_p.P339L	p.P339L	NM_001017373	NP_001017373	Q8N6K7	SAMD3_HUMAN		GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)	10	1342	-			339					B4DY20|E1P576|J3KQK4|Q4VXD8|Q8NAY1|Q8NB96	Missense_Mutation	SNP	ENST00000368134.2	37	c.1016C>T	CCDS34539.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.64|13.64	2.298513|2.298513	0.40694|0.40694	.|.	.|.	ENSG00000164483|ENSG00000164483	ENST00000463253|ENST00000368134;ENST00000457563;ENST00000439090;ENST00000437477	.|T;T;T;T	.|0.50001	.|0.78;0.76;0.78;0.78	5.65|5.65	4.76|4.76	0.60689|0.60689	.|.	.|0.172440	.|0.41823	.|D	.|0.000802	T|T	0.53578|0.53578	0.1805|0.1805	M|M	0.64997|0.64997	1.995|1.995	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.71414	.|0.973	T|T	0.55872|0.55872	-0.8072|-0.8072	5|10	.|0.41790	.|T	.|0.15	.|.	12.9961|12.9961	0.58648|0.58648	0.0:0.0:0.7069:0.2931|0.0:0.0:0.7069:0.2931	.|.	.|339	.|Q8N6K7	.|SAMD3_HUMAN	F|L	8|339;363;339;339	.|ENSP00000357116:P339L;ENSP00000402092:P363L;ENSP00000403565:P339L;ENSP00000391163:P339L	.|ENSP00000357116:P339L	L|P	-|-	1|2	0|0	SAMD3|SAMD3	130517670|130517670	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	4.352000|4.352000	0.59404|0.59404	1.479000|1.479000	0.48272|0.48272	0.563000|0.563000	0.77884|0.77884	CTT|CCT		PASS	0.299	SAMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042197.3	NM_152552		13	76	13	76	---	---	---	---
VNN2	8875	broad.mit.edu	37	6	133077133	133077133	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:133077133G>T	ENST00000326499.6	-	3	510	c.386C>A	c.(385-387)gCc>gAc	p.A129D	VNN2_ENST00000525289.1_Missense_Mutation_p.A129D|RP1-55C23.7_ENST00000430895.1_RNA|VNN2_ENST00000526192.1_5'UTR|VNN2_ENST00000525270.1_Missense_Mutation_p.A76D	NM_004665.2	NP_004656	O95498	VNN2_HUMAN	vanin 2	129	CN hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00054}.				cellular component movement (GO:0006928)|pantothenate metabolic process (GO:0015939)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	pantetheine hydrolase activity (GO:0017159)	p.A129D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTTGTCCTTGGCCAGGCAGCT	0.358																																						uc003qdt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(385-387)GCC>GAC		vanin 2 isoform 1 precursor							98.0	86.0	90.0					6																	133077133		2203	4300	6503	SO:0001583	missense	8875				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity	g.chr6:133077133G>T	AB026705	CCDS5161.1, CCDS5162.1, CCDS56451.1	6q23-q24	2013-02-13			ENSG00000112303	ENSG00000112303	3.5.1.92	"""Vanins"""	12706	protein-coding gene	gene with protein product	"""pantetheinase"""	603571				9790769, 11491533	Standard	NM_078488		Approved	FOAP-4, GPI-80	uc003qdt.3	O95498	OTTHUMG00000015588	ENST00000326499.6:c.386C>A	6.37:g.133077133G>T	ENSP00000322276:p.Ala129Asp					VNN2_uc003qds.2_5'UTR|VNN2_uc010kgb.2_Missense_Mutation_p.A129D|VNN2_uc003qdv.2_Missense_Mutation_p.A76D	p.A129D	NM_004665	NP_004656	O95498	VNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)	3	397	-			129			CN hydrolase.		A0AUZ3|A6NDY1|A8K4E3|A8K7W0|B2DFZ0|B2DFZ1|B2DFZ2|B2DFZ3|F6XL73|Q2XUN1|Q9UJF3|Q9UMW2	Missense_Mutation	SNP	ENST00000326499.6	37	c.386C>A	CCDS5161.1	.	.	.	.	.	.	.	.	.	.	G	14.09	2.430904	0.43122	.	.	ENSG00000112303	ENST00000326499;ENST00000525270;ENST00000525289;ENST00000524919;ENST00000530536	D;D;D;D;D	0.91686	-2.89;-2.89;-2.89;-2.75;-2.75	5.05	4.18	0.49190	Nitrilase/cyanide hydratase and apolipoprotein N-acyltransferase (4);	0.000000	0.64402	D	0.000009	D	0.97170	0.9075	H	0.98370	4.215	0.43994	D	0.996693	D;D	0.89917	1.0;1.0	D;D	0.97110	0.987;1.0	D	0.97791	1.0238	10	0.87932	D	0	-10.5284	11.8715	0.52523	0.147:0.0:0.853:0.0	.	129;129	O95498-2;O95498	.;VNN2_HUMAN	D	129;76;129;129;76	ENSP00000322276:A129D;ENSP00000436822:A76D;ENSP00000436935:A129D;ENSP00000431451:A129D;ENSP00000434210:A76D	ENSP00000322276:A129D	A	-	2	0	VNN2	133118826	1.000000	0.71417	0.989000	0.46669	0.116000	0.19942	3.532000	0.53553	1.269000	0.44280	-0.199000	0.12753	GCC		PASS	0.358	VNN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042264.2			17	48	17	48	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152738071	152738071	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:152738071C>A	ENST00000367255.5	-	41	6102	c.5501G>T	c.(5500-5502)gGc>gTc	p.G1834V	SYNE1_ENST00000341594.5_Missense_Mutation_p.G1871V|SYNE1_ENST00000265368.4_Missense_Mutation_p.G1834V|SYNE1_ENST00000423061.1_Missense_Mutation_p.G1841V|SYNE1_ENST00000448038.1_Missense_Mutation_p.G1841V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1834					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.G1834V(2)|p.G1841V(1)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAGCACGGCCCAGAGAACC	0.577										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(5500-5502)GGC>GTC		spectrin repeat containing, nuclear envelope 1							104.0	105.0	105.0					6																	152738071		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152738071C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5501G>T	6.37:g.152738071C>A	ENSP00000356224:p.Gly1834Val	HNSCC(10;0.0054)				SYNE1_uc003qot.3_Missense_Mutation_p.G1841V|SYNE1_uc003qou.3_Missense_Mutation_p.G1834V|SYNE1_uc010kjb.1_Missense_Mutation_p.G1817V	p.G1834V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	41	6103	-		Ovarian(120;0.0955)	1834			Cytoplasmic (Potential).		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.5501G>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	11.41	1.630517	0.28978	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37	6.16	5.29	0.74685	.	0.259022	0.33023	N	0.005362	T	0.10937	0.0267	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.09377	0.002;0.001;0.001;0.004	T	0.10291	-1.0636	10	0.15952	T	0.53	.	12.5273	0.56093	0.1323:0.7405:0.1271:0.0	.	1817;1834;1834;1841	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	V	1834;1841;1834;1841;1871	ENSP00000356224:G1834V;ENSP00000396024:G1841V;ENSP00000265368:G1834V;ENSP00000390975:G1841V;ENSP00000341887:G1871V	ENSP00000265368:G1834V	G	-	2	0	SYNE1	152779764	0.982000	0.34865	0.862000	0.33874	0.891000	0.51852	4.289000	0.59013	1.605000	0.50152	0.650000	0.86243	GGC		PASS	0.577	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	281	9	281	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152841636	152841636	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr6:152841636C>A	ENST00000367255.5	-	6	868	c.267G>T	c.(265-267)gtG>gtT	p.V89V	SYNE1_ENST00000341594.5_Silent_p.V89V|SYNE1_ENST00000367248.3_Silent_p.V89V|SYNE1_ENST00000265368.4_Silent_p.V89V|SYNE1_ENST00000466159.2_Silent_p.V89V|SYNE1_ENST00000367253.4_Silent_p.V89V|SYNE1_ENST00000413186.2_Silent_p.V89V|SYNE1_ENST00000423061.1_Silent_p.V89V|SYNE1_ENST00000448038.1_Silent_p.V89V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	89	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.V89V(3)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CAATGTTAGCCACAGCATGGA	0.418										HNSCC(10;0.0054)																												uc010kiw.2																			3	Substitution - coding silent(3)		lung(3)	central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.(265-267)GTG>GTT		spectrin repeat containing, nuclear envelope 1							152.0	149.0	150.0					6																	152841636		2203	4300	6503	SO:0001819	synonymous_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152841636C>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.267G>T	6.37:g.152841636C>A		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Silent_p.V89V|SYNE1_uc003qou.3_Silent_p.V89V|SYNE1_uc010kjb.1_Silent_p.V89V|SYNE1_uc003qpa.1_Silent_p.V89V	p.V89V	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	6	869	-		Ovarian(120;0.0955)	89			Actin-binding.|Cytoplasmic (Potential).|CH 1.		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	ENST00000367255.5	37	c.267G>T	CCDS5236.2																																																																																				PASS	0.418	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		51	254	51	254	---	---	---	---
PRKAR1B	5575	broad.mit.edu	37	7	720268	720268	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:720268C>A	ENST00000406797.1	-	3	447	c.273G>T	c.(271-273)gtG>gtT	p.V91V	PRKAR1B_ENST00000403562.1_Silent_p.V91V|PRKAR1B_ENST00000544935.1_Silent_p.V91V|PRKAR1B_ENST00000360274.4_Silent_p.V91V|PRKAR1B_ENST00000537384.1_Silent_p.V91V	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	91	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)	p.V91V(1)		endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGCGGGCCTTCACCACAGGGT	0.632																																						uc003siu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(271-273)GTG>GTT		protein kinase, cAMP-dependent, regulatory, type							49.0	49.0	49.0					7																	720268		2203	4300	6503	SO:0001819	synonymous_variant	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720268C>A	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.273G>T	7.37:g.720268C>A						PRKAR1B_uc003siv.2_Silent_p.V91V|PRKAR1B_uc003siw.1_Silent_p.V91V	p.V91V	NM_002735	NP_002726	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	4	379	-		Ovarian(82;0.0779)	91			Dimerization and phosphorylation.		Q8N422	Silent	SNP	ENST00000406797.1	37	c.273G>T	CCDS34579.1																																																																																				PASS	0.632	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			16	51	16	51	---	---	---	---
MRPL32	64983	broad.mit.edu	37	7	42972022	42972022	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:42972022T>A	ENST00000223324.2	+	1	224	c.37T>A	c.(37-39)Tgg>Agg	p.W13R	PSMA2_ENST00000538645.1_5'Flank|PSMA2_ENST00000442788.1_5'Flank|PSMA2_ENST00000445517.1_5'Flank|PSMA2_ENST00000223321.4_5'Flank	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	13				SPWSAARGVLRNYWERLLRKLPQSRPGFPSPPW -> RRGL RPGECFETTGSDCYGSFRRAGRAFPVLRGV (in Ref. 3). {ECO:0000305}.	translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.W13R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						GGTTTCGCCGTGGTCTGCGGC	0.647																																						uc003tia.2																			1	Substitution - Missense(1)		lung(1)		0						c.(37-39)TGG>AGG		mitochondrial ribosomal protein L32 precursor							47.0	49.0	48.0					7																	42972022		2203	4300	6503	SO:0001583	missense	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42972022T>A	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.37T>A	7.37:g.42972022T>A	ENSP00000223324:p.Trp13Arg					C7orf25_uc010kxr.2_5'Flank|PSMA2_uc003thy.2_5'Flank|PSMA2_uc010kxt.2_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.2_RNA|MRPL32_uc003tic.2_5'UTR	p.W13R	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			1	84	+			13	SPWSAARGVLRNYWERLLRKLPQSRPGFPSPPW -> RRGL RPGECFETTGSDCYGSFRRAGRAFPVLRGV (in Ref. 3).				Q96Q68|Q9P098	Missense_Mutation	SNP	ENST00000223324.2	37	c.37T>A	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	T	9.848	1.192873	0.21954	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.7	0.321	0.15883	.	0.761739	0.13188	N	0.406972	T	0.39332	0.1074	M	0.67953	2.075	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.31194	-0.9952	9	0.25106	T	0.35	-0.2259	4.8793	0.13672	0.0:0.2657:0.282:0.4522	.	13	Q9BYC8	RM32_HUMAN	R	13	.	ENSP00000223324:W13R	W	+	1	0	MRPL32	42938547	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.831000	0.04405	-0.163000	0.10946	-0.446000	0.05623	TGG		PASS	0.647	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903		4	108	4	108	---	---	---	---
ZNF107	51427	broad.mit.edu	37	7	64167834	64167834	+	Nonsense_Mutation	SNP	T	T	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:64167834T>G	ENST00000395391.1	+	4	2527	c.1152T>G	c.(1150-1152)taT>taG	p.Y384*	ZNF107_ENST00000423627.1_Nonsense_Mutation_p.Y384*|ZNF107_ENST00000344930.3_Nonsense_Mutation_p.Y384*			Q9UII5	ZN107_HUMAN	zinc finger protein 107	384					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y384*(1)		breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AGAAATCCTATAAATGTGAAG	0.338																																						uc003ttd.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1150-1152)TAT>TAG		zinc finger protein 107							30.0	33.0	32.0					7																	64167834		2196	4292	6488	SO:0001587	stop_gained	51427				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:64167834T>G	AB027251	CCDS5527.1, CCDS75605.1, CCDS75606.1	7q11.2	2013-01-08	2007-06-26			ENSG00000196247		"""Zinc fingers, C2H2-type"""	12887	protein-coding gene	gene with protein product		603989	"""zinc finger protein 588"", ""zinc finger protein 107 (Y8)"""	ZNF588		8467795	Standard	NM_016220		Approved	ZFD25, smap-7	uc003tte.3	Q9UII5		ENST00000395391.1:c.1152T>G	7.37:g.64167834T>G	ENSP00000378789:p.Tyr384*					ZNF107_uc003tte.2_Nonsense_Mutation_p.Y384*	p.Y384*	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN			7	1938	+		Lung NSC(55;0.00948)|all_lung(88;0.0249)	384			C2H2-type 12; atypical.			Nonsense_Mutation	SNP	ENST00000395391.1	37	c.1152T>G	CCDS5527.1	.	.	.	.	.	.	.	.	.	.	.	37	6.520142	0.97633	.	.	ENSG00000196247	ENST00000344930;ENST00000423627;ENST00000395391	.	.	.	1.27	-0.43	0.12299	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.5301	0.12001	0.0:0.4504:0.0:0.5496	.	.	.	.	X	384	.	.	Y	+	3	2	ZNF107	63805269	0.000000	0.05858	0.285000	0.24819	0.571000	0.35966	-2.275000	0.01162	-0.499000	0.06623	-0.736000	0.03550	TAT		PASS	0.338	ZNF107-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251593.1	NM_016220		11	75	11	75	---	---	---	---
CTTNBP2	83992	broad.mit.edu	37	7	117417585	117417585	+	Missense_Mutation	SNP	C	C	A	rs147958874		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:117417585C>A	ENST00000160373.3	-	8	2849	c.2758G>T	c.(2758-2760)Gct>Tct	p.A920S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	920					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)		p.A920S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTGGAAGCAGCAATGTGGGCA	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18204	0.0		0.001	False		,,,				2504	0.0					uc003vjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(2758-2760)GCT>TCT		cortactin binding protein 2							117.0	105.0	109.0					7																	117417585		2203	4300	6503	SO:0001583	missense	83992							g.chr7:117417585C>A		CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2758G>T	7.37:g.117417585C>A	ENSP00000160373:p.Ala920Ser						p.A920S	NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN		LUSC - Lung squamous cell carcinoma(290;0.133)	8	2850	-	Lung NSC(10;0.0018)|all_lung(10;0.002)		920			ANK 6.		O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	ENST00000160373.3	37	c.2758G>T	CCDS5774.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	C|C	33|33	5.264615|5.264615	0.95399|0.95399	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000160373|ENST00000446636	T|.	0.80480|.	-1.38|.	5.63|5.63	5.63|5.63	0.86233|0.86233	Ankyrin repeat-containing domain (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.82761|0.82761	0.5107|0.5107	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.83275|.	0.996|.	T|T	0.82922|0.82922	-0.0217|-0.0217	10|5	0.72032|.	D|.	0.01|.	2.0472|2.0472	20.0344|20.0344	0.97551|0.97551	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	920|.	Q8WZ74|.	CTTB2_HUMAN|.	S|F	920|407	ENSP00000160373:A920S|.	ENSP00000160373:A920S|.	A|C	-|-	1|2	0|0	CTTNBP2|CTTNBP2	117204821|117204821	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	7.102000|7.102000	0.77005|0.77005	2.803000|2.803000	0.96430|0.96430	0.650000|0.650000	0.86243|0.86243	GCT|TGC		PASS	0.493	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059201.4	NM_033427		17	107	17	107	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139661861	139661861	+	Silent	SNP	T	T	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:139661861T>G	ENST00000336425.5	+	13	1352	c.963T>G	c.(961-963)ccT>ccG	p.P321P	TBXAS1_ENST00000414508.2_Silent_p.P322P|TBXAS1_ENST00000416849.2_Silent_p.P368P|TBXAS1_ENST00000425687.1_Silent_p.P254P|TBXAS1_ENST00000411653.1_Silent_p.P321P|TBXAS1_ENST00000458722.1_Silent_p.P367P|TBXAS1_ENST00000448866.1_Silent_p.P321P|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000436047.2_Silent_p.P322P|TBXAS1_ENST00000263552.6_Silent_p.P322P			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	321					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.P322P(1)|p.P368P(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	AGCCCAGCCCTATGGCCAGGC	0.542																																						uc011kqv.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(1102-1104)CCT>CCG		thromboxane A synthase 1, platelet isoform							82.0	70.0	74.0					7																	139661861		2203	4300	6503	SO:0001819	synonymous_variant	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139661861T>G	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.963T>G	7.37:g.139661861T>G						TBXAS1_uc003vvh.2_Silent_p.P322P|TBXAS1_uc010lne.2_Silent_p.P254P|TBXAS1_uc011kqu.1_Silent_p.P273P|TBXAS1_uc003vvi.2_Silent_p.P322P|TBXAS1_uc003vvj.2_Silent_p.P322P|TBXAS1_uc011kqw.1_Silent_p.P302P	p.P368P	NM_001130966	NP_001124438	P24557	THAS_HUMAN			10	1268	+	Melanoma(164;0.0142)		321			Lumenal (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Silent	SNP	ENST00000336425.5	37	c.1104T>G																																																																																					PASS	0.542	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000348373.1			13	56	13	56	---	---	---	---
NOBOX	135935	broad.mit.edu	37	7	144098541	144098541	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:144098541C>T	ENST00000467773.1	-	4	441	c.442G>A	c.(442-444)Gga>Aga	p.G148R	NOBOX_ENST00000223140.5_Missense_Mutation_p.G63R|NOBOX_ENST00000483238.1_Missense_Mutation_p.G148R	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	148					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.G148R(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GTGGCTTCTCCAGAGACTGCT	0.647																																						uc011kue.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(442-444)GGA>AGA		NOBOX oogenesis homeobox							22.0	25.0	24.0					7																	144098541		1879	4100	5979	SO:0001583	missense	135935				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	g.chr7:144098541C>T			7q35	2011-06-20			ENSG00000106410	ENSG00000106410		"""Homeoboxes / PRD class"""	22448	protein-coding gene	gene with protein product	"""newborn ovary homeobox-encoding gene"""	610934				11804785, 16597639	Standard	NM_001080413		Approved	OG2, Og2x	uc022aoj.1	O60393	OTTHUMG00000158051	ENST00000467773.1:c.442G>A	7.37:g.144098541C>T	ENSP00000419457:p.Gly148Arg						p.G148R	NM_001080413	NP_001073882	O60393	NOBOX_HUMAN			4	442	-	Melanoma(164;0.14)		148					A6NCD3|A8MZN5	Missense_Mutation	SNP	ENST00000467773.1	37	c.442G>A		.	.	.	.	.	.	.	.	.	.	C	14.35	2.507894	0.44558	.	.	ENSG00000106410	ENST00000483238;ENST00000467773;ENST00000223140	D;D;D	0.96716	-2.93;-4.1;-2.89	4.87	-0.321	0.12717	.	.	.	.	.	D	0.91533	0.7326	N	0.24115	0.695	0.09310	N	1	P	0.38195	0.622	B	0.40477	0.33	D	0.84903	0.0843	9	0.52906	T	0.07	-1.0928	7.1375	0.25537	0.0:0.4595:0.0:0.5405	.	148	O60393	NOBOX_HUMAN	R	148;148;63	ENSP00000419565:G148R;ENSP00000419457:G148R;ENSP00000223140:G63R	ENSP00000223140:G63R	G	-	1	0	NOBOX	143729474	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.031000	0.12287	0.026000	0.15269	-1.036000	0.02392	GGA		PASS	0.647	NOBOX-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000350095.1	XM_001134420		4	23	4	23	---	---	---	---
CNTNAP2	26047	broad.mit.edu	37	7	147183133	147183133	+	Splice_Site	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:147183133T>A	ENST00000361727.3	+	11	2293	c.1777T>A	c.(1777-1779)Tct>Act	p.S593T		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	593	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.S593T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGCCACAACTGTGAGTGCCA	0.448										HNSCC(39;0.1)																												uc003weu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(1777-1779)TCT>ACT		cell recognition molecule Caspr2 precursor							97.0	91.0	93.0					7																	147183133		2203	4300	6503	SO:0001630	splice_region_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147183133T>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1777+1T>A	7.37:g.147183133T>A		HNSCC(39;0.1)					p.S593T	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		11	2293	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	593			Extracellular (Potential).|Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.1777T>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.193830	0.78902	.	.	ENSG00000174469	ENST00000361727	T	0.14144	2.53	5.89	4.76	0.60689	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (2);	0.000000	0.64402	U	0.000007	T	0.39682	0.1087	M	0.90198	3.095	0.80722	D	1	D	0.76494	0.999	D	0.72625	0.978	T	0.34551	-0.9824	10	0.30078	T	0.28	.	9.2978	0.37827	0.0:0.0901:0.0:0.9099	.	593	Q9UHC6	CNTP2_HUMAN	T	593	ENSP00000354778:S593T	ENSP00000354778:S593T	S	+	1	0	CNTNAP2	146814066	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.179000	0.58290	1.060000	0.40578	0.533000	0.62120	TCT		PASS	0.448	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		Missense_Mutation	5	59	5	59	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148512021	148512021	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:148512021G>C	ENST00000460911.1	-	14	1730	c.1642C>G	c.(1642-1644)Caa>Gaa	p.Q548E	EZH2_ENST00000350995.2_Missense_Mutation_p.Q509E|EZH2_ENST00000476773.1_Intron|EZH2_ENST00000483967.1_Missense_Mutation_p.Q539E|EZH2_ENST00000478654.1_Intron|EZH2_ENST00000541220.1_Intron|EZH2_ENST00000320356.2_Missense_Mutation_p.Q553E			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	548	CXC. {ECO:0000255|PROSITE- ProRule:PRU00970}.|Cys-rich.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.Q553E(1)|p.Q553*(1)|p.Q509E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GAACTACATTGACAAAACTTT	0.353			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		3	Substitution - Missense(2)|Substitution - Nonsense(1)		lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1642-1644)CAA>GAA		enhancer of zeste 2 isoform a							88.0	83.0	85.0					7																	148512021		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148512021G>C		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1642C>G	7.37:g.148512021G>C	ENSP00000419711:p.Gln548Glu					EZH2_uc011kug.1_Intron|EZH2_uc003wfb.1_Missense_Mutation_p.Q553E|EZH2_uc003wfc.1_Missense_Mutation_p.Q509E|EZH2_uc011kuh.1_Missense_Mutation_p.Q539E	p.Q548E	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		14	1808	-	Melanoma(164;0.15)		548			Cys-rich.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1642C>G	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	g	17.62	3.433900	0.62955	.	.	ENSG00000106462	ENST00000320356;ENST00000460911;ENST00000350995;ENST00000483967	T;T;T;T	0.80123	-1.34;-1.34;-1.34;-1.34	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.64630	1.985	0.80722	D	1	B;B;B;B	0.09022	0.002;0.002;0.002;0.0	B;B;B;B	0.15052	0.012;0.007;0.012;0.001	T	0.74009	-0.3802	10	0.25751	T	0.34	.	19.0233	0.92923	0.0:0.0:1.0:0.0	.	539;548;509;553	Q15910-4;Q15910;Q15910-3;Q15910-2	.;EZH2_HUMAN;.;.	E	553;548;509;539	ENSP00000320147:Q553E;ENSP00000419711:Q548E;ENSP00000223193:Q509E;ENSP00000419856:Q539E	ENSP00000320147:Q553E	Q	-	1	0	EZH2	148142954	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.460000	0.97641	2.481000	0.83766	0.563000	0.77884	CAA		PASS	0.353	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		6	75	6	75	---	---	---	---
GALNTL5	168391	broad.mit.edu	37	7	151704912	151704912	+	Splice_Site	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr7:151704912G>C	ENST00000392800.2	+	7	1163	c.909G>C	c.(907-909)cgG>cgC	p.R303R	GALNTL5_ENST00000483959.1_3'UTR|GALNTL5_ENST00000431418.2_Splice_Site_p.R303R	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	polypeptide N-acetylgalactosaminyltransferase-like 5	303	Catalytic subdomain B.				spermatid development (GO:0007286)	endosome (GO:0005768)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)	p.R303R(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CCCTTTCTAGGTCACCTGCAA	0.299																																						uc003wkp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(907-909)CGG>CGC		UDP-N-acetyl-alpha-D-galactosamine:polypeptide							120.0	121.0	120.0					7																	151704912		2203	4300	6503	SO:0001630	splice_region_variant	168391					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr7:151704912G>C	AF440400	CCDS5929.1	7q36.2	2014-03-13	2014-03-13	2004-07-28	ENSG00000106648	ENSG00000106648		"""Glycosyltransferase family 2 domain containing"""	21725	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase-like 5"""	615133	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 15"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5"""	GALNT15			Standard	NM_145292		Approved	GalNAc-T5L	uc003wkp.3	Q7Z4T8	OTTHUMG00000157306	ENST00000392800.2:c.909-1G>C	7.37:g.151704912G>C						GALNTL5_uc003wkq.2_Silent_p.R54R|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Silent_p.R192R	p.R303R	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)	7	1132	+	all_neural(206;0.187)	all_hematologic(28;0.0749)	303			Catalytic subdomain B.|Lumenal (Potential).		Q75KN2|Q75MD3|Q8NCV4|Q8WW05|Q9UDR9	Silent	SNP	ENST00000392800.2	37	c.909G>C	CCDS5929.1																																																																																				PASS	0.299	GALNTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348395.1	NM_145292	Silent	37	265	37	265	---	---	---	---
DOCK5	80005	broad.mit.edu	37	8	25250371	25250371	+	Silent	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr8:25250371G>A	ENST00000276440.7	+	44	4544	c.4500G>A	c.(4498-4500)aaG>aaA	p.K1500K		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1500	DHR-2.				positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)	p.K1500K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGATTCTCAAGTGGTTTGAAG	0.378																																					Pancreas(145;34 1887 3271 10937 30165)	uc003xeg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(4498-4500)AAG>AAA		dedicator of cytokinesis 5							99.0	77.0	85.0					8																	25250371		2203	4300	6503	SO:0001819	synonymous_variant	80005					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr8:25250371G>A		CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.4500G>A	8.37:g.25250371G>A						PPP2R2A_uc003xek.2_Intron|DOCK5_uc003xei.2_Silent_p.K1070K|DOCK5_uc003xej.2_RNA	p.K1500K	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)	44	4637	+		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)	1500			DHR-2.		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Silent	SNP	ENST00000276440.7	37	c.4500G>A	CCDS6047.1																																																																																				PASS	0.378	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254955.2	NM_024940		4	34	4	34	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166547	41166547	+	Silent	SNP	G	G	T	rs551082706		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr8:41166547G>T	ENST00000220772.3	-	1	469	c.132C>A	c.(130-132)ggC>ggA	p.G44G	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	44					bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G44G(3)		breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCTGGTACGGGCCGATGTCCG	0.687																																						uc003xnt.2																			3	Substitution - coding silent(3)		endometrium(2)|lung(1)	central_nervous_system(1)	1						c.(130-132)GGC>GGA		secreted frizzled-related protein 1 precursor							41.0	42.0	42.0					8																	41166547		2202	4300	6502	SO:0001819	synonymous_variant	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166547G>T	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.132C>A	8.37:g.41166547G>T							p.G44G	NM_003012	NP_003003	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	434	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	44					O00546|O14779	Silent	SNP	ENST00000220772.3	37	c.132C>A	CCDS34886.1																																																																																				PASS	0.687	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		6	37	6	37	---	---	---	---
SNAI2	6591	broad.mit.edu	37	8	49832867	49832867	+	Silent	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr8:49832867A>G	ENST00000396822.1	-	3	570	c.213T>C	c.(211-213)aaT>aaC	p.N71N	SNAI2_ENST00000020945.1_Silent_p.N71N			O43623	SNAI2_HUMAN	snail family zinc finger 2	71					canonical Wnt signaling pathway (GO:0060070)|cartilage morphogenesis (GO:0060536)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to ionizing radiation (GO:0071479)|desmosome disassembly (GO:0035921)|embryo development (GO:0009790)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|epithelium development (GO:0060429)|negative regulation of anoikis (GO:2000811)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell-cell adhesion by negative regulation of transcription from RNA polymerase II promoter (GO:1900387)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|negative regulation of vitamin D receptor signaling pathway (GO:0070563)|neural crest cell development (GO:0014032)|Notch signaling pathway (GO:0007219)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone acetylation (GO:0035066)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of chemokine production (GO:0032642)|regulation of osteoblast differentiation (GO:0045667)|regulation of tight junction assembly (GO:2000810)|sensory perception of sound (GO:0007605)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)	p.N71N(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				GAGAGAGGCCATTGGGTAGCT	0.577																																						uc003xqp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(211-213)AAT>AAC		snail 2							108.0	113.0	111.0					8																	49832867		2203	4300	6503	SO:0001819	synonymous_variant	6591				canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:49832867A>G	U97060	CCDS6146.1	8q11.21	2013-05-23	2013-05-23	2002-02-28	ENSG00000019549	ENSG00000019549		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11094	protein-coding gene	gene with protein product		602150	"""slug homolog, zinc finger protein (chicken)"", ""snail homolog 2 (Drosophila)"""	SLUG		9337409, 9721220	Standard	NM_003068		Approved	SLUGH1, SNAIL2	uc003xqp.3	O43623	OTTHUMG00000149912	ENST00000396822.1:c.213T>C	8.37:g.49832867A>G							p.N71N	NM_003068	NP_003059	O43623	SNAI2_HUMAN			2	377	-		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)	71					B2R6P6|Q53FC1	Silent	SNP	ENST00000396822.1	37	c.213T>C	CCDS6146.1																																																																																				PASS	0.577	SNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313873.2	NM_003068		57	230	57	230	---	---	---	---
CA8	767	broad.mit.edu	37	8	61135250	61135250	+	Silent	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr8:61135250G>T	ENST00000317995.4	-	7	960	c.696C>A	c.(694-696)acC>acA	p.T232T	CA8_ENST00000528666.1_5'UTR	NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	232					one-carbon metabolic process (GO:0006730)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasm (GO:0005737)	carbonate dehydratase activity (GO:0004089)|zinc ion binding (GO:0008270)	p.T232T(1)		endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)			Zonisamide(DB00909)	ATAATATCCAGGTGACACCTT	0.458																																						uc003xtz.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(694-696)ACC>ACA		carbonic anhydrase VIII							114.0	104.0	107.0					8																	61135250		2203	4300	6503	SO:0001819	synonymous_variant	767				one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding	g.chr8:61135250G>T	L04656	CCDS6174.1	8q12.1	2012-08-21			ENSG00000178538	ENSG00000178538		"""Carbonic anhydrases"""	1382	protein-coding gene	gene with protein product		114815		CALS		17219437	Standard	NM_004056		Approved	CARP	uc003xtz.1	P35219	OTTHUMG00000165325	ENST00000317995.4:c.696C>A	8.37:g.61135250G>T						CA8_uc003xua.1_Silent_p.T232T	p.T232T	NM_004056	NP_004047	P35219	CAH8_HUMAN			7	944	-		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)	232					A8K0A5|B3KQZ7|Q32MY2	Silent	SNP	ENST00000317995.4	37	c.696C>A	CCDS6174.1																																																																																				PASS	0.458	CA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383445.1			5	86	5	86	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77767540	77767540	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr8:77767540C>A	ENST00000521891.2	+	10	8831	c.8383C>A	c.(8383-8385)Caa>Aaa	p.Q2795K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.Q2769K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.Q2750K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.Q2750K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2750					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.Q2779K(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TGGGTATGATCAAAATAAAAC	0.448										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(8248-8250)CAA>AAA		zinc finger homeodomain 4							35.0	35.0	35.0					8																	77767540		1909	4141	6050	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77767540C>A		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.8383C>A	8.37:g.77767540C>A	ENSP00000430497:p.Gln2795Lys	HNSCC(33;0.089)				ZFHX4_uc003yau.1_Missense_Mutation_p.Q2795K|ZFHX4_uc003yaw.1_Missense_Mutation_p.Q2750K	p.Q2750K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	8635	+			2750					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.8248C>A	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402373	0.25291	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51071	0.72;0.77;0.74;0.73	4.97	4.97	0.65823	.	0.000000	0.42964	U	0.000632	T	0.55689	0.1936	L	0.48642	1.525	0.35330	D	0.785553	P;P;P	0.48694	0.86;0.914;0.914	P;P;P	0.54499	0.573;0.754;0.754	T	0.58526	-0.7621	10	0.24483	T	0.36	.	18.4163	0.90571	0.0:1.0:0.0:0.0	.	2750;2750;2795	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	2795;2779;2750;2750;2769	ENSP00000430497:Q2795K;ENSP00000399605:Q2750K;ENSP00000050961:Q2750K;ENSP00000430848:Q2769K	ENSP00000050961:Q2750K	Q	+	1	0	ZFHX4	77930095	1.000000	0.71417	0.981000	0.43875	0.282000	0.26991	4.606000	0.61126	2.583000	0.87209	0.555000	0.69702	CAA		PASS	0.448	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		16	67	16	67	---	---	---	---
LYPD2	137797	broad.mit.edu	37	8	143831824	143831824	+	Silent	SNP	G	G	T	rs587601057		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr8:143831824G>T	ENST00000359228.3	-	3	337	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_205545.1	NP_991108.1	Q6UXB3	LYPD2_HUMAN	LY6/PLAUR domain containing 2	85	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.I85I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGTCTGGCCGATGCCATCCA	0.637																																						uc003ywz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(253-255)ATC>ATA		LY6/PLAUR domain containing 2 precursor							65.0	49.0	54.0					8																	143831824		2199	4297	6496	SO:0001819	synonymous_variant	137797					anchored to membrane|plasma membrane		g.chr8:143831824G>T	AY358432	CCDS6388.1	8q24.3	2005-08-30		2005-08-30	ENSG00000197353	ENSG00000197353			25215	protein-coding gene	gene with protein product				LYPDC2		12975309	Standard	NM_205545		Approved	RGTR430, UNQ430	uc003ywz.3	Q6UXB3	OTTHUMG00000164686	ENST00000359228.3:c.255C>A	8.37:g.143831824G>T							p.I85I	NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN			3	338	-	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		85			UPAR/Ly6.		A8K2R6|Q0VD64|Q0VF31	Silent	SNP	ENST00000359228.3	37	c.255C>A	CCDS6388.1																																																																																				PASS	0.637	LYPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379742.1	NM_205545		3	9	3	9	---	---	---	---
CDKN2A	1029	broad.mit.edu	37	9	21970901	21970901	+	Splice_Site	SNP	C	C	T	rs45476696		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr9:21970901C>T	ENST00000304494.5	-	2	727	c.457G>A	c.(457-459)Gac>Aac	p.D153N	CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000479692.2_Splice_Site_p.V102I|CDKN2A_ENST00000578845.2_Splice_Site_p.D102N|CDKN2A_ENST00000494262.1_Splice_Site_p.D102N|CDKN2A_ENST00000446177.1_Splice_Site_p.E153K|CDKN2A_ENST00000361570.3_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Splice_Site_p.D102N|CDKN2A_ENST00000498124.1_Splice_Site_p.E153K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G102S|CDKN2A_ENST00000579122.1_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	153					cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(16)|p.D153N(1)|p.0(1)|p.E153K(1)|p.D153Y(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGTCCTCACCTGAGGGACCT	0.597		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1335	Whole gene deletion(1316)|Unknown(16)|Substitution - Missense(3)	p.0?(1112)|p.?(16)|p.D153Y(1)	haematopoietic_and_lymphoid_tissue(278)|skin(170)|central_nervous_system(163)|lung(145)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(48)|upper_aerodigestive_tract(47)|ovary(34)|breast(31)|kidney(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CS972842	CDKN2A	S	rs45476696	c.(457-459)GAC>AAC		cyclin-dependent kinase inhibitor 2A isoform 1							34.0	35.0	34.0					9																	21970901		2203	4300	6503	SO:0001630	splice_region_variant	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21970901C>T	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.457+1G>A	9.37:g.21970901C>T		HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.D153N	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	669	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	153					A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.457G>A	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.26|10.26	1.301003|1.301003	0.23650|0.23650	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000304494|ENST00000446177	T|T	0.78126|0.76578	-1.15|-1.03	4.21|4.21	3.31|3.31	0.37934|0.37934	.|.	.|.	.|.	.|.	.|.	T|T	0.75140|0.75140	0.3809|0.3809	L|L	0.39898|0.39898	1.24|1.24	0.80722|0.80722	D|D	1|1	B|.	0.13594|.	0.008|.	B|.	0.12156|.	0.007|.	T|T	0.74266|0.74266	-0.3721|-0.3721	9|7	0.66056|0.48119	D|T	0.02|0.1	.|.	9.7139|9.7139	0.40263|0.40263	0.2066:0.7934:0.0:0.0|0.2066:0.7934:0.0:0.0	rs45476696|rs45476696	153|.	P42771|.	CD2A1_HUMAN|.	N|K	153|153	ENSP00000307101:D153N|ENSP00000394932:E153K	ENSP00000307101:D153N|ENSP00000394932:E153K	D|E	-|-	1|1	0|0	CDKN2A|CDKN2A	21960901|21960901	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.015000|0.015000	0.08874|0.08874	3.892000|3.892000	0.56235|0.56235	1.376000|1.376000	0.46267|0.46267	-0.122000|-0.122000	0.15005|0.15005	GAC|GAA		PASS	0.597	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	Missense_Mutation	14	56	14	56	---	---	---	---
DMRTA1	63951	broad.mit.edu	37	9	22451294	22451294	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr9:22451294T>C	ENST00000325870.2	+	2	1124	c.899T>C	c.(898-900)cTg>cCg	p.L300P		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	300					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L300P(1)		breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		TCCTCTGATCTGGAATCAGGA	0.468																																						uc003zpp.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|skin(1)	2						c.(898-900)CTG>CCG		DMRT-like family A1							56.0	49.0	52.0					9																	22451294		2203	4300	6503	SO:0001583	missense	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22451294T>C	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.899T>C	9.37:g.22451294T>C	ENSP00000319651:p.Leu300Pro						p.L300P	NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	2	1124	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	300					A1L481|Q8N8Y9|Q9H4B9	Missense_Mutation	SNP	ENST00000325870.2	37	c.899T>C	CCDS6514.1	.	.	.	.	.	.	.	.	.	.	T	18.31	3.596498	0.66332	.	.	ENSG00000176399	ENST00000325870	T	0.31247	1.5	5.87	5.87	0.94306	.	0.539103	0.19621	N	0.109915	T	0.26448	0.0646	L	0.33792	1.035	0.80722	D	1	B	0.21071	0.051	B	0.17979	0.02	T	0.03060	-1.1077	10	0.32370	T	0.25	-7.6136	15.5573	0.76208	0.0:0.0:0.0:1.0	.	300	Q5VZB9	DMRTA_HUMAN	P	300	ENSP00000319651:L300P	ENSP00000319651:L300P	L	+	2	0	DMRTA1	22441294	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	3.432000	0.52824	2.371000	0.80710	0.533000	0.62120	CTG		PASS	0.468	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			11	50	11	50	---	---	---	---
DDX58	23586	broad.mit.edu	37	9	32488093	32488093	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr9:32488093G>T	ENST00000379883.2	-	8	1219	c.1062C>A	c.(1060-1062)aaC>aaA	p.N354K	DDX58_ENST00000379868.1_Missense_Mutation_p.N151K|DDX58_ENST00000379882.1_Missense_Mutation_p.N309K|DDX58_ENST00000545044.1_Missense_Mutation_p.N151K|DDX58_ENST00000542096.1_Missense_Mutation_p.N283K	NM_014314.3	NP_055129.2	O95786	DDX58_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 58	354	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Interaction with ZC3HAV1.				cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell migration (GO:0030334)|regulation of type III interferon production (GO:0034344)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RIG-I signaling pathway (GO:0039529)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|identical protein binding (GO:0042802)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)	p.N354K(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)		CCTTTTTAAGGTTGTTCACAA	0.378																																						uc003zra.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|pancreas(1)	4						c.(1060-1062)AAC>AAA		DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide							182.0	174.0	177.0					9																	32488093		2203	4300	6503	SO:0001583	missense	23586				detection of virus|innate immune response|negative regulation of type I interferon production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter	cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|protein binding|zinc ion binding	g.chr9:32488093G>T	AF038963	CCDS6526.1	9p12	2011-08-05			ENSG00000107201	ENSG00000107201		"""DEAD-boxes"""	19102	protein-coding gene	gene with protein product	"""RNA helicase RIG-I"", ""retinoic acid inducible gene I"""	609631				21690088	Standard	NM_014314		Approved	RIG-I, FLJ13599, DKFZp434J1111	uc003zra.3	O95786	OTTHUMG00000019746	ENST00000379883.2:c.1062C>A	9.37:g.32488093G>T	ENSP00000369213:p.Asn354Lys					DDX58_uc010mjj.2_RNA|DDX58_uc010mjk.1_Missense_Mutation_p.N309K|DDX58_uc011lnr.1_Missense_Mutation_p.N151K|DDX58_uc010mji.2_Missense_Mutation_p.N283K	p.N354K	NM_014314	NP_055129	O95786	DDX58_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;0.00056)	8	1220	-			354			Helicase ATP-binding.		A2RU81|Q5HYE1|Q5VYT1|Q9NT04	Missense_Mutation	SNP	ENST00000379883.2	37	c.1062C>A	CCDS6526.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.998548	0.35226	.	.	ENSG00000107201	ENST00000379882;ENST00000379883;ENST00000379868;ENST00000542096;ENST00000545044	T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31	4.57	2.54	0.30619	DEAD-like helicase (2);ATPase, AAA+ type, core (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.792485	0.11531	N	0.554660	T	0.23133	0.0559	L	0.31578	0.945	0.32932	D	0.517203	P;P;P;P	0.44260	0.83;0.741;0.455;0.778	B;B;B;B	0.39119	0.144;0.239;0.249;0.291	T	0.23762	-1.0179	10	0.25106	T	0.35	-1.0824	6.4466	0.21879	0.4266:0.0:0.5734:0.0	.	151;309;283;354	F5H5W6;O95786-2;B3KWW1;O95786	.;.;.;DDX58_HUMAN	K	309;354;151;283;151	ENSP00000369212:N309K;ENSP00000369213:N354K;ENSP00000369197:N151K;ENSP00000442160:N283K;ENSP00000443055:N151K	ENSP00000369197:N151K	N	-	3	2	DDX58	32478093	0.001000	0.12720	0.778000	0.31720	0.987000	0.75469	-0.230000	0.09083	0.342000	0.23796	0.455000	0.32223	AAC		PASS	0.378	DDX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052011.1	NM_014314		48	149	48	149	---	---	---	---
OR1L4	254973	broad.mit.edu	37	9	125487119	125487120	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr9:125487119_125487120CC>AA	ENST00000259466.1	+	1	851_852	c.851_852CC>AA	c.(850-852)cCC>cAA	p.P284Q		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P284P(1)|p.P284Q(1)|p.P284H(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GTAGTGACACCCATGCTGAACC	0.416																																						uc004bmu.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)		0						c.(850-852)CCC>CAC|c.(850-852)CCC>CCA		olfactory receptor, family 1, subfamily L,																																				SO:0001583	missense	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125487119C>A|g.chr9:125487120C>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	Exception_encountered	9.37:g.125487119_125487120delinsAA	ENSP00000259466:p.Pro284Gln						p.P284H|p.P284P	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	851|852	+			284			Helical; Name=7; (Potential).		Q6IFN0|Q96R81	Missense_Mutation|Silent	SNP	ENST00000259466.1	37	c.851C>A|c.852C>A	CCDS35129.1																																																																																				PASS	0.416	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			17|16	67|68	16	67	---	---	---	---
DENND1A	57706	broad.mit.edu	37	9	126144596	126144596	+	Silent	SNP	T	T	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr9:126144596T>G	ENST00000373624.2	-	22	2346	c.2145A>C	c.(2143-2145)ccA>ccC	p.P715P	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.P726P|DENND1A_ENST00000542603.1_Silent_p.P500P	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	715	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.P715P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GAATGGGCGGTGGAGGCACGA	0.692																																						uc004bnz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2143-2145)CCA>CCC		DENN/MADD domain containing 1A isoform 1							24.0	26.0	25.0					9																	126144596		2202	4298	6500	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126144596T>G	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.2145A>C	9.37:g.126144596T>G						DENND1A_uc011lzl.1_Silent_p.P533P|DENND1A_uc004bny.1_Silent_p.P497P|DENND1A_uc011lzm.1_Silent_p.P726P|DENND1A_uc010mwh.1_Silent_p.P136P	p.P715P	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			22	2378	-			715			Pro-rich.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.2145A>C	CCDS35133.1																																																																																				PASS	0.692	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820		4	25	4	25	---	---	---	---
SOHLH1	402381	broad.mit.edu	37	9	138586250	138586250	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr9:138586250C>G	ENST00000298466.5	-	7	989	c.929G>C	c.(928-930)gGt>gCt	p.G310A	SOHLH1_ENST00000425225.1_Missense_Mutation_p.G310A	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	310					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G310A(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGAGCTGGGACCAGCAGTCAG	0.637																																						uc004cgl.2																			2	Substitution - Missense(2)		lung(2)	breast(1)|central_nervous_system(1)	2						c.(928-930)GGT>GCT		spermatogenesis and oogenesis specific basic							73.0	64.0	67.0					9																	138586250		2202	4300	6502	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138586250C>G	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.929G>C	9.37:g.138586250C>G	ENSP00000298466:p.Gly310Ala					SOHLH1_uc010nbe.2_Missense_Mutation_p.G310A	p.G310A	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	7	990	-		Myeloproliferative disorder(178;0.0511)	310					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.929G>C	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	C	12.20	1.866992	0.32977	.	.	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.33438	1.5;1.41	4.08	2.17	0.27698	.	0.778671	0.10610	N	0.654614	T	0.20861	0.0502	L	0.29908	0.895	0.09310	N	1	P;P	0.37573	0.6;0.465	B;B	0.36885	0.235;0.118	T	0.16276	-1.0408	10	0.59425	D	0.04	-3.6202	5.3061	0.15805	0.0:0.7327:0.0:0.2673	.	310;310	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	A	310	ENSP00000298466:G310A;ENSP00000404438:G310A	ENSP00000298466:G310A	G	-	2	0	SOHLH1	137726071	0.015000	0.18098	0.067000	0.19924	0.017000	0.09413	0.918000	0.28678	1.041000	0.40125	0.543000	0.68304	GGT		PASS	0.637	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		14	54	14	54	---	---	---	---
ENTPD2	954	broad.mit.edu	37	9	139945972	139945972	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr9:139945972G>A	ENST00000355097.2	-	3	423	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	ENTPD2_ENST00000460614.1_5'Flank|RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Missense_Mutation_p.R126C	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	126					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)	p.R126C(1)		endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTGAGCAGGCGCATACCCGCT	0.637																																						uc004ckw.1																			1	Substitution - Missense(1)		lung(1)		0						c.(376-378)CGC>TGC		ectonucleoside triphosphate diphosphohydrolase 2							67.0	65.0	66.0					9																	139945972		2203	4300	6503	SO:0001583	missense	954					integral to membrane	ATP binding	g.chr9:139945972G>A	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.376C>T	9.37:g.139945972G>A	ENSP00000347213:p.Arg126Cys					ENTPD2_uc004ckv.1_5'Flank|ENTPD2_uc004ckx.1_Missense_Mutation_p.R126C	p.R126C	NM_203468	NP_982293	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	3	432	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	126			Extracellular (Potential).		O15464|Q5SPY6|Q5SPY7	Missense_Mutation	SNP	ENST00000355097.2	37	c.376C>T	CCDS7026.1	.	.	.	.	.	.	.	.	.	.	G	19.71	3.877956	0.72294	.	.	ENSG00000054179	ENST00000355097;ENST00000312665	T;T	0.41400	1.0;1.0	4.78	1.37	0.22104	.	0.000000	0.85682	D	0.000000	T	0.71837	0.3387	H	0.97635	4.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.74300	-0.3710	10	0.87932	D	0	-33.8039	8.2193	0.31532	0.0823:0.0:0.5443:0.3734	.	126;126	Q9Y5L3-2;Q9Y5L3	.;ENTP2_HUMAN	C	126	ENSP00000347213:R126C;ENSP00000312494:R126C	ENSP00000312494:R126C	R	-	1	0	ENTPD2	139065793	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.470000	0.35354	0.413000	0.25759	0.561000	0.74099	CGC		PASS	0.637	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	NM_203468		5	95	5	95	---	---	---	---
DCLRE1C	64421	broad.mit.edu	37	10	14974877	14974877	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr10:14974877C>G	ENST00000378278.2	-	9	793	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCLRE1C_ENST00000378249.1_Missense_Mutation_p.Q137H|DCLRE1C_ENST00000357717.2_Missense_Mutation_p.Q137H|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.Q132H|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.Q252H|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.Q132H|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.Q132H|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.Q132H|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.Q137H|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.Q132H			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	252					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.Q137H(1)|p.Q252H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ATGCATGGATCTGAGTGTTGC	0.418								Non-homologous end-joining																														uc001inn.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(754-756)CAG>CAC	Involved_in_tolerance_or_repair_of_DNA_crosslinks|NHEJ	artemis protein isoform a							243.0	199.0	214.0					10																	14974877		2203	4300	6503	SO:0001583	missense	64421				DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity	g.chr10:14974877C>G	BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.756G>C	10.37:g.14974877C>G	ENSP00000367527:p.Gln252His					DCLRE1C_uc010qbx.1_Missense_Mutation_p.Q252H|DCLRE1C_uc001inl.2_Missense_Mutation_p.Q132H|DCLRE1C_uc009xji.2_Missense_Mutation_p.Q137H|DCLRE1C_uc001inm.2_Missense_Mutation_p.Q132H|DCLRE1C_uc001ino.2_Missense_Mutation_p.Q137H|DCLRE1C_uc009xjh.2_RNA|DCLRE1C_uc001inp.2_Missense_Mutation_p.Q132H|DCLRE1C_uc001inq.2_Missense_Mutation_p.Q132H|DCLRE1C_uc001inr.2_Missense_Mutation_p.Q137H|DCLRE1C_uc009xjj.1_RNA	p.Q252H	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN			9	841	-			252					D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	ENST00000378278.2	37	c.756G>C	CCDS31149.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.966847	0.53507	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000418843	T;T;T;T;T;T;T;T;T;T;T	0.80214	0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;0.77;-1.35	5.3	5.3	0.74995	DNA repair metallo-beta-lactamase (1);	0.122601	0.64402	D	0.000013	D	0.88573	0.6473	M	0.65320	2	0.48452	D	0.999651	P;D;P	0.89917	0.594;1.0;0.909	B;D;P	0.79108	0.333;0.992;0.766	D	0.88339	0.2973	10	0.49607	T	0.09	.	18.9759	0.92736	0.0:1.0:0.0:0.0	.	252;137;252	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	H	252;132;137;137;137;132;132;132;252;132;106	ENSP00000367538:Q252H;ENSP00000400529:Q132H;ENSP00000367492:Q137H;ENSP00000350349:Q137H;ENSP00000367496:Q137H;ENSP00000380030:Q132H;ENSP00000367503:Q132H;ENSP00000367502:Q132H;ENSP00000367527:Q252H;ENSP00000367506:Q132H;ENSP00000391428:Q106H	ENSP00000350349:Q137H	Q	-	3	2	DCLRE1C	15014883	1.000000	0.71417	1.000000	0.80357	0.044000	0.14063	2.002000	0.40835	2.474000	0.83562	0.650000	0.86243	CAG		PASS	0.418	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046934.1	NM_022487		55	220	55	220	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37425591	37425591	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr10:37425591C>A	ENST00000602533.1	+	6	743	c.644C>A	c.(643-645)aCc>aAc	p.T215N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.T215N|RNU6-811P_ENST00000384069.1_RNA|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T215N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	271					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T215N(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATCAAAATACCAATCCAGGT	0.284																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(643-645)ACC>AAC		ankyrin repeat domain 30A							25.0	23.0	23.0					10																	37425591		1798	4066	5864	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37425591C>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.644C>A	10.37:g.37425591C>A	ENSP00000473551:p.Thr215Asn						p.T215N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			6	743	+			271			ANK 6.		Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.644C>A		.	.	.	.	.	.	.	.	.	.	.	7.965	0.747804	0.15710	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.32988	1.49;1.43	2.13	-3.47	0.04753	Ankyrin repeat-containing domain (1);	.	.	.	.	T	0.23649	0.0572	N	0.19112	0.55	0.09310	N	1	D	0.53885	0.963	P	0.52646	0.705	T	0.14227	-1.0480	9	0.56958	D	0.05	.	4.6757	0.12710	0.2726:0.1909:0.5365:0.0	.	271	Q9BXX3	AN30A_HUMAN	N	215	ENSP00000354432:T215N;ENSP00000363792:T215N	ENSP00000354432:T215N	T	+	2	0	ANKRD30A	37465597	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.348000	0.02629	-1.132000	0.02907	-2.477000	0.00200	ACC		PASS	0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		3	5	3	5	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37440998	37440998	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr10:37440998C>G	ENST00000602533.1	+	12	1587	c.1488C>G	c.(1486-1488)ttC>ttG	p.F496L	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.F496L|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.F496L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	552					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F496L(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						ATCCGATGTTCCCACCAGAAT	0.284																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(1486-1488)TTC>TTG		ankyrin repeat domain 30A							116.0	105.0	108.0					10																	37440998		1792	4064	5856	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37440998C>G	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1488C>G	10.37:g.37440998C>G	ENSP00000473551:p.Phe496Leu						p.F496L	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			12	1587	+			552					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.1488C>G		.	.	.	.	.	.	.	.	.	.	.	6.207	0.406389	0.11754	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.06933	3.24;3.24	1.71	-2.05	0.07321	.	.	.	.	.	T	0.08582	0.0213	L	0.34521	1.04	0.09310	N	1	P	0.49447	0.924	P	0.57776	0.827	T	0.14476	-1.0471	9	0.07030	T	0.85	.	2.1489	0.03795	0.3292:0.3033:0.0:0.3674	.	552	Q9BXX3	AN30A_HUMAN	L	496	ENSP00000354432:F496L;ENSP00000363792:F496L	ENSP00000354432:F496L	F	+	3	2	ANKRD30A	37481004	0.057000	0.20700	0.001000	0.08648	0.002000	0.02628	-0.029000	0.12329	-0.545000	0.06224	0.384000	0.25694	TTC		PASS	0.284	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		6	31	6	31	---	---	---	---
CRTAC1	55118	broad.mit.edu	37	10	99661269	99661269	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr10:99661269C>A	ENST00000370597.3	-	8	1479	c.1124G>T	c.(1123-1125)cGc>cTc	p.R375L	CRTAC1_ENST00000298819.4_Missense_Mutation_p.R375L|CRTAC1_ENST00000370591.2_Missense_Mutation_p.R375L	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	375						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.R375L(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCGGAAGAGGCGGTTGGCTGA	0.572																																						uc001kou.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)	5						c.(1123-1125)CGC>CTC		cartilage acidic protein 1 precursor							95.0	77.0	83.0					10																	99661269		2203	4300	6503	SO:0001583	missense	55118					proteinaceous extracellular matrix	calcium ion binding	g.chr10:99661269C>A	AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.1124G>T	10.37:g.99661269C>A	ENSP00000359629:p.Arg375Leu					CRTAC1_uc001kov.2_Missense_Mutation_p.R364L|CRTAC1_uc001kot.1_Missense_Mutation_p.R165L	p.R375L	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)	8	1480	-		Colorectal(252;0.24)	375					B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	ENST00000370597.3	37	c.1124G>T	CCDS31266.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.679062	0.68042	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01	4.27	4.27	0.50696	.	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	M	0.84846	2.72	0.80722	D	1	B;B;B	0.33857	0.085;0.173;0.429	B;B;B	0.33799	0.087;0.017;0.17	T	0.34079	-0.9843	10	0.41790	T	0.15	-19.0487	16.9023	0.86117	0.0:1.0:0.0:0.0	.	375;375;271	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	L	271;375;375;367;375	ENSP00000408445:R271L;ENSP00000359629:R375L;ENSP00000298819:R375L;ENSP00000310810:R367L;ENSP00000359623:R375L	ENSP00000298819:R375L	R	-	2	0	CRTAC1	99651259	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.762000	0.68809	2.208000	0.71279	0.462000	0.41574	CGC		PASS	0.572	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049754.1	NM_018058		14	36	14	36	---	---	---	---
NANOS1	340719	broad.mit.edu	37	10	120795713	120795713	+	IGR	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr10:120795713T>A	ENST00000425699.1	+	0	4627				EIF3A_ENST00000541549.1_Silent_p.R1295R|EIF3A_ENST00000369144.3_Silent_p.R1329R	NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)						cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)	p.R1329R(1)		lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		GGGGAGGAACTCGACGAGGAG	0.458																																						uc001ldu.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(3985-3987)CGA>CGT		eukaryotic translation initiation factor 3,							73.0	74.0	74.0					10																	120795713		2203	4300	6503	SO:0001628	intergenic_variant	8661				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity	g.chr10:120795713T>A	AF275269	CCDS7607.1	10q26.13	2003-12-01			ENSG00000188613	ENSG00000188613			23044	protein-coding gene	gene with protein product		608226				12690449	Standard	NM_199461		Approved	NOS1	uc009xzf.1	Q8WY41	OTTHUMG00000019141		10.37:g.120795713T>A						EIF3A_uc010qsu.1_Silent_p.R1295R	p.R1329R	NM_003750	NP_003741	Q14152	EIF3A_HUMAN		all cancers(201;0.0236)	22	4133	-		Lung NSC(174;0.094)|all_lung(145;0.123)	1329						Silent	SNP	ENST00000425699.1	37	c.3987A>T	CCDS7607.1																																																																																				PASS	0.458	NANOS1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000110794.1			31	115	31	115	---	---	---	---
KCNQ1	3784	broad.mit.edu	37	11	2604765	2604765	+	Missense_Mutation	SNP	C	C	T	rs12720459	byFrequency	TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:2604765C>T	ENST00000155840.5	+	7	1130	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	KCNQ1_ENST00000335475.5_Missense_Mutation_p.A214V	NM_000218.2	NP_000209.2	P51787	KCNQ1_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 1	341			A -> E (in LQT1; dbSNP:rs12720459).|A -> V (in LQT1; dbSNP:rs12720459). {ECO:0000269|PubMed:15840476, ECO:0000269|PubMed:8818942, ECO:0000269|PubMed:8872472, ECO:0000269|PubMed:9570196}.		atrial cardiac muscle cell action potential (GO:0086014)|cardiac muscle contraction (GO:0060048)|cardiovascular system development (GO:0072358)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|gene silencing (GO:0016458)|male gonad development (GO:0008584)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|negative regulation of insulin secretion (GO:0046676)|positive regulation of gastric acid secretion (GO:0060454)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of heart contraction (GO:0008016)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|sensory perception of sound (GO:0007605)|synaptic transmission (GO:0007268)|ventricular cardiac muscle cell action potential (GO:0086005)	basolateral plasma membrane (GO:0016323)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)|zymogen granule membrane (GO:0042589)	calmodulin binding (GO:0005516)|delayed rectifier potassium channel activity (GO:0005251)|ion channel binding (GO:0044325)|outward rectifier potassium channel activity (GO:0015271)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|protein phosphatase 1 binding (GO:0008157)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)|voltage-gated potassium channel activity involved in ventricular cardiac muscle cell action potential repolarization (GO:1902282)	p.A341V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	TCCTTCTTTGCGCTCCCAGCG	0.637																																						uc001lwn.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1	GRCh37	CM960903|CM960904	KCNQ1	M	rs12720459	c.(1021-1023)GCG>GTG		potassium voltage-gated channel, KQT-like	Bepridil(DB01244)|Indapamide(DB00808)						198.0	176.0	183.0					11																	2604765		2202	4299	6501	SO:0001583	missense	3784				blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding	g.chr11:2604765C>T	AF000571	CCDS7736.1	11p15.5	2014-09-17			ENSG00000053918	ENSG00000053918		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6294	protein-coding gene	gene with protein product	"""Jervell and Lange-Nielsen syndrome 1"""	607542		LQT, KCNA9		8528244, 16382104	Standard	NM_181798		Approved	Kv7.1, KCNA8, KVLQT1, JLNS1, LQT1	uc001lwn.3	P51787	OTTHUMG00000009900	ENST00000155840.5:c.1022C>T	11.37:g.2604765C>T	ENSP00000155840:p.Ala341Val					KCNQ1_uc009ydp.1_Missense_Mutation_p.A125V|KCNQ1_uc001lwo.2_Missense_Mutation_p.A214V	p.A341V	NM_000218	NP_000209	P51787	KCNQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	7	1130	+		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)	341		A -> V (in LQT1).	Helical; Name=Segment S6; (Potential).		O00347|O60607|O94787|Q14D14|Q7Z6G9|Q92960|Q9UMN8|Q9UMN9	Missense_Mutation	SNP	ENST00000155840.5	37	c.1022C>T	CCDS7736.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.560710	0.86335	.	.	ENSG00000053918	ENST00000155840;ENST00000335475	D;D	0.98862	-5.19;-5.19	3.93	3.93	0.45458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99055	0.9676	M	0.85099	2.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.994;0.999	D	0.99091	1.0840	10	0.87932	D	0	-23.2931	13.8518	0.63501	0.0:1.0:0.0:0.0	rs12720459;rs45478697;rs12720459	214;214;341	P51787-2;Q14D14;P51787	.;.;KCNQ1_HUMAN	V	341;214	ENSP00000155840:A341V;ENSP00000334497:A214V	ENSP00000155840:A341V	A	+	2	0	KCNQ1	2561341	1.000000	0.71417	0.325000	0.25375	0.886000	0.51366	6.892000	0.75644	2.176000	0.68965	0.542000	0.68232	GCG		PASS	0.637	KCNQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027382.2	NM_000218		5	233	5	233	---	---	---	---
OR52H1	390067	broad.mit.edu	37	11	5566079	5566079	+	Silent	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:5566079G>C	ENST00000322653.4	-	1	700	c.675C>G	c.(673-675)tcC>tcG	p.S225S	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	225						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S225S(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTGTGCGTAGGAAACAGCAA	0.507																																						uc010qzh.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|breast(1)	2						c.(673-675)TCC>TCG		olfactory receptor, family 52, subfamily H,							121.0	100.0	107.0					11																	5566079		2201	4297	6498	SO:0001819	synonymous_variant	390067				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5566079G>C	AB065802	CCDS31386.1	11p15.4	2012-08-09			ENSG00000181616	ENSG00000181616		"""GPCR / Class A : Olfactory receptors"""	15218	protein-coding gene	gene with protein product							Standard	NM_001005289		Approved		uc010qzh.2	Q8NGJ2	OTTHUMG00000066909	ENST00000322653.4:c.675C>G	11.37:g.5566079G>C						HBG2_uc001mak.1_Intron	p.S225S	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	675	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	225			Helical; Name=5; (Potential).		B9EH26|Q6IF79	Silent	SNP	ENST00000322653.4	37	c.675C>G	CCDS31386.1																																																																																				PASS	0.507	OR52H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143400.1	NM_001005289		18	81	18	81	---	---	---	---
OR56A3	390083	broad.mit.edu	37	11	5969275	5969275	+	Silent	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:5969275G>A	ENST00000329564.6	+	1	706	c.699G>A	c.(697-699)aaG>aaA	p.K233K		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	233						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K233K(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAGACTCAAGGCAGAGGGTG	0.517																																						uc010qzt.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(697-699)AAG>AAA		olfactory receptor, family 56, subfamily A,							206.0	201.0	202.0					11																	5969275		2185	4288	6473	SO:0001819	synonymous_variant	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5969275G>A		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.699G>A	11.37:g.5969275G>A							p.K233K	NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	699	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	233			Cytoplasmic (Potential).		A6NN77|Q6IFF7	Silent	SNP	ENST00000329564.6	37	c.699G>A	CCDS41614.1																																																																																				PASS	0.517	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		37	331	37	331	---	---	---	---
KCNA4	3739	broad.mit.edu	37	11	30033616	30033616	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:30033616C>G	ENST00000328224.6	-	2	1843	c.610G>C	c.(610-612)Gac>Cac	p.D204H	KCNA4_ENST00000526518.1_5'Flank	NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	204					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	potassium ion binding (GO:0030955)|voltage-gated potassium channel activity (GO:0005249)	p.D204H(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78					Dalfampridine(DB06637)	TTTTCAGGGTCTCCCAACAAA	0.448																																						uc001msk.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)|pancreas(1)	4						c.(610-612)GAC>CAC		potassium voltage-gated channel, shaker-related							64.0	62.0	62.0					11																	30033616		1888	4116	6004	SO:0001583	missense	3739					voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	g.chr11:30033616C>G	M55514	CCDS41629.1	11p14	2012-07-05	2002-07-10			ENSG00000182255		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6222	protein-coding gene	gene with protein product		176266	"""potassium voltage-gated channel, shaker-related subfamily, member 4-like"""	KCNA4L		2263489, 16382104	Standard	NM_002233		Approved	Kv1.4, HK1, HPCN2	uc001msk.3	P22459		ENST00000328224.6:c.610G>C	11.37:g.30033616C>G	ENSP00000328511:p.Asp204His						p.D204H	NM_002233	NP_002224	P22459	KCNA4_HUMAN			2	1762	-			204						Missense_Mutation	SNP	ENST00000328224.6	37	c.610G>C	CCDS41629.1	.	.	.	.	.	.	.	.	.	.	C	16.54	3.150554	0.57151	.	.	ENSG00000182255	ENST00000328224	T	0.77229	-1.08	4.81	4.81	0.61882	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.89061	0.6608	M	0.87269	2.87	0.80722	D	1	D	0.76494	0.999	D	0.66602	0.945	D	0.91031	0.4864	10	0.62326	D	0.03	.	17.8942	0.88881	0.0:1.0:0.0:0.0	.	204	P22459	KCNA4_HUMAN	H	204	ENSP00000328511:D204H	ENSP00000328511:D204H	D	-	1	0	KCNA4	29990192	1.000000	0.71417	0.930000	0.37139	0.970000	0.65996	4.942000	0.63547	2.227000	0.72691	0.561000	0.74099	GAC		PASS	0.448	KCNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388074.2	NM_002233		20	135	20	135	---	---	---	---
OR5D18	219438	broad.mit.edu	37	11	55587239	55587239	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:55587239G>T	ENST00000333976.4	+	1	154	c.134G>T	c.(133-135)gGg>gTg	p.G45V		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G45V(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GGGAATATTGGGTTGATTGTG	0.453																																						uc010rin.1																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(133-135)GGG>GTG		olfactory receptor, family 5, subfamily D,							203.0	186.0	192.0					11																	55587239		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587239G>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.134G>T	11.37:g.55587239G>T	ENSP00000335025:p.Gly45Val						p.G45V	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	134	+		all_epithelial(135;0.208)	45			Helical; Name=1; (Potential).		Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.134G>T	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	14.33	2.504143	0.44558	.	.	ENSG00000186119	ENST00000333976	T	0.00995	5.46	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40144	N	0.001175	T	0.02688	0.0081	L	0.41632	1.29	0.49213	D	0.99976	D	0.63880	0.993	D	0.64410	0.925	T	0.58624	-0.7604	10	0.87932	D	0	-17.8881	11.3163	0.49394	0.0:0.0:0.8182:0.1818	.	45	Q8NGL1	OR5DI_HUMAN	V	45	ENSP00000335025:G45V	ENSP00000335025:G45V	G	+	2	0	OR5D18	55343815	0.000000	0.05858	1.000000	0.80357	0.342000	0.28953	-0.339000	0.07832	2.510000	0.84645	0.632000	0.83419	GGG		PASS	0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		64	283	64	283	---	---	---	---
OR5I1	10798	broad.mit.edu	37	11	55703110	55703110	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:55703110G>C	ENST00000301532.3	-	1	766	c.767C>G	c.(766-768)aCt>aGt	p.T256S		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	256					signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T256S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AAAGAGGAGAGTCCCTTGGTA	0.443																																						uc010ris.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(766-768)ACT>AGT		olfactory receptor, family 5, subfamily I,							76.0	75.0	76.0					11																	55703110		2201	4296	6497	SO:0001583	missense	10798				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55703110G>C	BC069093	CCDS7949.1	11q11	2012-08-09			ENSG00000167825	ENSG00000167825		"""GPCR / Class A : Olfactory receptors"""	8347	protein-coding gene	gene with protein product		608496				9017400, 9787077	Standard	NM_006637		Approved	HSOlf1, OLF1	uc010ris.2	Q13606	OTTHUMG00000166821	ENST00000301532.3:c.767C>G	11.37:g.55703110G>C	ENSP00000301532:p.Thr256Ser						p.T256S	NM_006637	NP_006628	Q13606	OR5I1_HUMAN			1	767	-			256			Helical; Name=6; (Potential).		Q6IEU4	Missense_Mutation	SNP	ENST00000301532.3	37	c.767C>G	CCDS7949.1	.	.	.	.	.	.	.	.	.	.	G	4.611	0.113535	0.08831	.	.	ENSG00000167825	ENST00000301532	T	0.00256	8.42	5.16	3.3	0.37823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000167	T	0.00178	0.0005	L	0.46741	1.465	0.24873	N	0.992277	B	0.11235	0.004	B	0.14023	0.01	T	0.29822	-0.9999	10	0.44086	T	0.13	.	8.5211	0.33275	0.0813:0.0:0.7657:0.153	.	256	Q13606	OR5I1_HUMAN	S	256	ENSP00000301532:T256S	ENSP00000301532:T256S	T	-	2	0	OR5I1	55459686	0.166000	0.22962	0.114000	0.21550	0.020000	0.10135	3.312000	0.51927	0.686000	0.31488	-0.134000	0.14843	ACT		PASS	0.443	OR5I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391528.1	NM_006637		5	20	5	20	---	---	---	---
SF3B2	10992	broad.mit.edu	37	11	65835483	65835483	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:65835483G>T	ENST00000322535.6	+	20	2446	c.2397G>T	c.(2395-2397)atG>atT	p.M799I	SF3B2_ENST00000528302.1_Missense_Mutation_p.M782I|RP11-1167A19.2_ENST00000529036.1_Intron|PACS1_ENST00000320580.4_5'Flank	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	799					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)	p.M799I(1)		breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GAGGGGCCATGATGGGATCAA	0.512											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogy.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(2395-2397)ATG>ATT		splicing factor 3B subunit 2							154.0	155.0	155.0					11																	65835483		2201	4295	6496	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65835483G>T	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2397G>T	11.37:g.65835483G>T	ENSP00000318861:p.Met799Ile		OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1087	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.1_5'Flank	p.M799I	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			20	2437	+			799					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.2397G>T	CCDS31612.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.83|15.83	2.948242|2.948242	0.53186|0.53186	.|.	.|.	ENSG00000087365|ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000355456|ENST00000530981	.|.	.|.	.|.	5.76|5.76	3.79|3.79	0.43588|0.43588	.|.	0.072281|.	0.85682|.	N|.	0.000000|.	T|.	0.53594|.	0.1806|.	L|L	0.41124|0.41124	1.26|1.26	0.80722|0.80722	D|D	1|1	B|.	0.26512|.	0.151|.	B|.	0.25506|.	0.061|.	T|.	0.44452|.	-0.9327|.	9|.	0.36615|.	T|.	0.2|.	-13.9398|-13.9398	9.7435|9.7435	0.40433|0.40433	0.1806:0.0:0.8194:0.0|0.1806:0.0:0.8194:0.0	.|.	799|.	Q13435|.	SF3B2_HUMAN|.	I|L	782;799;703|219	.|.	ENSP00000318861:M799I|.	M|X	+|+	3|2	0|2	SF3B2|SF3B2	65592059|65592059	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	7.428000|7.428000	0.80296|0.80296	0.684000|0.684000	0.31448|0.31448	0.555000|0.555000	0.69702|0.69702	ATG|TGA		PASS	0.512	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2			38	188	38	188	---	---	---	---
MYEOV	26579	broad.mit.edu	37	11	69062870	69062870	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:69062870C>G	ENST00000308946.3	+	2	499	c.49C>G	c.(49-51)Ctc>Gtc	p.L17V	MYEOV_ENST00000441339.2_Missense_Mutation_p.L17V|MYEOV_ENST00000535407.1_5'UTR	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	17								p.L17V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		cccgataggtctctgcactcg	0.592																																						uc001oov.2																			1	Substitution - Missense(1)		lung(1)		0						c.(49-51)CTC>GTC		myeloma overexpressed							218.0	150.0	173.0					11																	69062870		2200	4294	6494	SO:0001583	missense	26579							g.chr11:69062870C>G	AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		ENST00000308946.3:c.49C>G	11.37:g.69062870C>G	ENSP00000308330:p.Leu17Val					MYEOV_uc001oox.2_Intron|MYEOV_uc009ysl.2_Missense_Mutation_p.L17V|MYEOV_uc001oow.2_5'UTR	p.L17V	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)	2	499	+	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		17					Q9UGN6|Q9UGN7	Missense_Mutation	SNP	ENST00000308946.3	37	c.49C>G	CCDS8190.1	.	.	.	.	.	.	.	.	.	.	C	9.712	1.157371	0.21454	.	.	ENSG00000172927	ENST00000441339;ENST00000308946	T;T	0.25250	1.81;1.81	1.5	1.5	0.22942	.	.	.	.	.	T	0.24198	0.0586	N	0.08118	0	0.35922	D	0.831885	D	0.71674	0.998	D	0.68621	0.959	T	0.34179	-0.9839	9	0.87932	D	0	.	6.4525	0.21912	0.0:1.0:0.0:0.0	.	17	Q96EZ4	MYEOV_HUMAN	V	17	ENSP00000412482:L17V;ENSP00000308330:L17V	ENSP00000308330:L17V	L	+	1	0	MYEOV	68819446	0.014000	0.17966	0.024000	0.17045	0.063000	0.16089	0.361000	0.20267	1.161000	0.42604	0.491000	0.48974	CTC		PASS	0.592	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396548.1			199	109	199	109	---	---	---	---
PATE1	160065	broad.mit.edu	37	11	125618609	125618609	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr11:125618609T>A	ENST00000305738.5	+	5	374	c.362T>A	c.(361-363)cTg>cAg	p.L121Q	PATE1_ENST00000437148.2_Missense_Mutation_p.L109Q	NM_138294.2	NP_612151.1	Q8WXA2	PATE1_HUMAN	prostate and testis expressed 1	121						extracellular region (GO:0005576)		p.L121Q(1)		large_intestine(1)|lung(5)	6						AGCCATGACCTGTGCAATGAA	0.438																																						uc001qct.2																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)CTG>CAG		expressed in prostate and testis precursor							176.0	150.0	159.0					11																	125618609		2201	4299	6500	SO:0001583	missense	160065					extracellular region		g.chr11:125618609T>A	AF462605	CCDS8464.1	11q24.2	2008-12-17				ENSG00000171053		"""PATE family"""	24664	protein-coding gene	gene with protein product	"""expressed in prostate and testis"""	606861				11880645, 15798027	Standard	NM_138294		Approved	PATE	uc001qct.3	Q8WXA2		ENST00000305738.5:c.362T>A	11.37:g.125618609T>A	ENSP00000307164:p.Leu121Gln					PATE1_uc009zbr.2_Missense_Mutation_p.L109Q	p.L121Q	NM_138294	NP_612151	Q8WXA2	PATE1_HUMAN			5	374	+			121					Q3KNX2	Missense_Mutation	SNP	ENST00000305738.5	37	c.362T>A	CCDS8464.1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948117	0.34377	.	.	ENSG00000171053	ENST00000305738;ENST00000437148	T;T	0.38077	1.16;1.16	4.07	4.07	0.47477	.	0.847462	0.09615	N	0.778330	T	0.48021	0.1477	L	0.40543	1.245	0.09310	N	1	D;D	0.69078	0.995;0.997	P;D	0.63877	0.884;0.919	T	0.30446	-0.9978	10	0.66056	D	0.02	-9.372	9.7205	0.40300	0.0:0.0:0.0:1.0	.	109;121	Q8WXA2-2;Q8WXA2	.;PATE1_HUMAN	Q	121;109	ENSP00000307164:L121Q;ENSP00000396056:L109Q	ENSP00000307164:L121Q	L	+	2	0	PATE1	125123819	0.022000	0.18835	0.095000	0.20976	0.019000	0.09904	1.376000	0.34306	2.066000	0.61787	0.528000	0.53228	CTG		PASS	0.438	PATE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386726.2	NM_138294		39	141	39	141	---	---	---	---
CACNA1C	775	broad.mit.edu	37	12	2774140	2774140	+	Missense_Mutation	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:2774140T>A	ENST00000347598.4	+	37	4526	c.4526T>A	c.(4525-4527)aTg>aAg	p.M1509K	CACNA1C_ENST00000399638.1_Missense_Mutation_p.M1489K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M1448K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M1450K|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M1478K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M1483K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M1461K|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M1486K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M1481K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M1450K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1509	Dihydropyridine binding. {ECO:0000250}.|Phenylalkylamine binding. {ECO:0000250}.				adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.M1539K(1)|p.M1483K(1)|p.M1509K(1)|p.M1461K(1)|p.M996K(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	AGCTTCTACATGCTCTGTGCC	0.567																																						uc009zdu.1																			5	Substitution - Missense(5)		lung(5)	ovary(10)|central_nervous_system(1)	11						c.(4525-4527)ATG>AAG		calcium channel, voltage-dependent, L type,	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						65.0	67.0	67.0					12																	2774140		2203	4300	6503	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2774140T>A	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.4526T>A	12.37:g.2774140T>A	ENSP00000266376:p.Met1509Lys					CACNA1C_uc009zdv.1_Missense_Mutation_p.M1458K|CACNA1C_uc001qkb.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkc.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qke.2_Missense_Mutation_p.M1450K|CACNA1C_uc001qkf.2_Missense_Mutation_p.M1450K|CACNA1C_uc001qjz.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkd.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkg.2_Missense_Mutation_p.M1448K|CACNA1C_uc009zdw.1_Missense_Mutation_p.M1483K|CACNA1C_uc001qkh.2_Missense_Mutation_p.M1450K|CACNA1C_uc001qkl.2_Missense_Mutation_p.M1509K|CACNA1C_uc001qkn.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qko.2_Missense_Mutation_p.M1481K|CACNA1C_uc001qkp.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkr.2_Missense_Mutation_p.M1478K|CACNA1C_uc001qku.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkq.2_Missense_Mutation_p.M1489K|CACNA1C_uc001qks.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qkt.2_Missense_Mutation_p.M1461K|CACNA1C_uc001qki.1_Missense_Mutation_p.M1197K|CACNA1C_uc001qkj.1_Missense_Mutation_p.M1197K|CACNA1C_uc001qkk.1_Missense_Mutation_p.M1197K|CACNA1C_uc001qkm.1_Missense_Mutation_p.M1186K|CACNA1C_uc010sea.1_Missense_Mutation_p.M152K	p.M1509K	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	37	4839	+			1509			Phenylalkylamine binding (By similarity).|Dihydropyridine binding (By similarity).|Helical; Name=S6 of repeat IV; (Potential).|IV.		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.4526T>A	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189994	0.78789	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98602	-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02;-5.02	4.4	4.4	0.53042	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99089	0.9687	M	0.92970	3.365	0.80722	D	1	D;P;D;D;P;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.946;0.994;0.999;0.946;0.99;0.994;0.981;0.999;0.999;0.981;0.997;0.928;0.981;0.987;0.992;0.981;0.999;0.99;0.995;0.997;0.99;0.99;0.994;0.993	D;D;D;D;D;D;D;D;D;D;D;D;P;D;D;D;P;D;D;D;D;D;D;D;D	0.77557	0.984;0.943;0.983;0.987;0.943;0.983;0.983;0.987;0.99;0.982;0.983;0.974;0.879;0.987;0.979;0.989;0.884;0.986;0.983;0.93;0.974;0.983;0.983;0.974;0.974	D	0.99334	1.0910	10	0.87932	D	0	.	14.0719	0.64865	0.0:0.0:0.0:1.0	.	152;1483;1458;1509;1461;1461;1461;1478;1489;1461;1481;1461;1421;1509;1461;1461;1461;1450;1448;1450;1450;1461;1461;1461;1461	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	1486;1461;1461;1489;1461;1461;1461;1450;1461;1509;1481;1461;1483;1478;1461;1448;1461;1461;1461;1461;1461;1450;1291	ENSP00000336982:M1486K;ENSP00000382563:M1461K;ENSP00000382552:M1461K;ENSP00000382547:M1489K;ENSP00000382506:M1461K;ENSP00000382530:M1461K;ENSP00000382546:M1461K;ENSP00000382500:M1450K;ENSP00000382549:M1461K;ENSP00000266376:M1509K;ENSP00000382515:M1481K;ENSP00000382510:M1461K;ENSP00000341092:M1483K;ENSP00000382537:M1478K;ENSP00000329877:M1461K;ENSP00000382557:M1448K;ENSP00000385724:M1461K;ENSP00000382512:M1461K;ENSP00000382542:M1461K;ENSP00000382526:M1461K;ENSP00000385896:M1461K;ENSP00000382504:M1450K	ENSP00000323129:M1291K	M	+	2	0	CACNA1C	2644401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.020000	0.70826	1.974000	0.57490	0.459000	0.35465	ATG		PASS	0.567	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		5	60	5	60	---	---	---	---
CLEC6A	93978	broad.mit.edu	37	12	8610514	8610514	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:8610514C>A	ENST00000382073.3	+	2	238	c.52C>A	c.(52-54)Ctg>Atg	p.L18M		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	18					defense response to fungus (GO:0050832)|innate immune response (GO:0045087)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.L18M(1)		breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					CTGGTTGTCCCTGAGACTCTG	0.493																																						uc001qum.1																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(52-54)CTG>ATG		dectin-2							167.0	149.0	155.0					12																	8610514		2203	4300	6503	SO:0001583	missense	93978				defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding	g.chr12:8610514C>A	AY321309	CCDS31739.1	12p13	2005-09-21	2005-02-09	2005-02-11	ENSG00000205846	ENSG00000205846		"""C-type lectin domain containing"""	14556	protein-coding gene	gene with protein product		613579	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 10"""	CLECSF10			Standard	NM_001007033		Approved	dectin-2	uc001qum.1	Q6EIG7	OTTHUMG00000168672	ENST00000382073.3:c.52C>A	12.37:g.8610514C>A	ENSP00000371505:p.Leu18Met						p.L18M	NM_001007033	NP_001007034	Q6EIG7	CLC6A_HUMAN			2	169	+	Lung SC(5;0.184)		18			Cytoplasmic (Potential).		A2RUK3	Missense_Mutation	SNP	ENST00000382073.3	37	c.52C>A	CCDS31739.1	.	.	.	.	.	.	.	.	.	.	.	7.416	0.635811	0.14386	.	.	ENSG00000205846	ENST00000382073	T	0.07114	3.22	3.9	2.07	0.26955	.	0.861737	0.09425	N	0.803849	T	0.20659	0.0497	L	0.56396	1.775	0.09310	N	1	D	0.76494	0.999	D	0.68765	0.96	T	0.11966	-1.0566	10	0.51188	T	0.08	.	6.3664	0.21457	0.0:0.775:0.0:0.225	.	18	Q6EIG7	CLC6A_HUMAN	M	18	ENSP00000371505:L18M	ENSP00000371505:L18M	L	+	1	2	CLEC6A	8501781	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.437000	0.21543	0.619000	0.30197	-0.150000	0.13652	CTG		PASS	0.493	CLEC6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400562.1	NM_001007033		8	57	8	57	---	---	---	---
RIMKLB	57494	broad.mit.edu	37	12	8926333	8926333	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:8926333A>C	ENST00000538135.1	+	6	1939	c.1114A>C	c.(1114-1116)Aac>Cac	p.N372H	A2ML1-AS1_ENST00000537288.1_RNA|RIMKLB_ENST00000535829.1_Missense_Mutation_p.N372H|RIMKLB_ENST00000357529.3_Missense_Mutation_p.N372H|RIMKLB_ENST00000299673.5_Intron			Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	372					cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|citrate-L-glutamate ligase activity (GO:0072591)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.N372H(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GGGCCTGTTCAACATGAACCA	0.483																																						uc001quu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1114-1116)AAC>CAC		ribosomal modification protein rimK-like family							77.0	76.0	76.0					12																	8926333		1887	4108	5995	SO:0001583	missense	57494				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	g.chr12:8926333A>C	AB033064	CCDS41748.1	12p13.31	2011-09-21	2008-10-13	2008-10-13	ENSG00000166532	ENSG00000166532	6.3.2.N6		29228	protein-coding gene	gene with protein product	"""N-acetylaspartyl-glutamate synthetase"""	614054	"""family with sequence similarity 80, member B"""	FAM80B		10574462, 20643647	Standard	XM_006719116		Approved	KIAA1238, NAAGS, NAAGS-I	uc001qux.2	Q9ULI2		ENST00000538135.1:c.1114A>C	12.37:g.8926333A>C	ENSP00000440943:p.Asn372His					RIMKLB_uc009zgf.1_Intron|RIMKLB_uc001qux.2_Missense_Mutation_p.N372H|RIMKLB_uc010sgl.1_Missense_Mutation_p.N372H|RIMKLB_uc001quw.2_Intron	p.N372H	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN			6	1365	+			372					B7Z834|D3DUV2|Q8N4P4|Q8WTW6	Missense_Mutation	SNP	ENST00000538135.1	37	c.1114A>C	CCDS41748.1	.	.	.	.	.	.	.	.	.	.	A	18.69	3.677346	0.68042	.	.	ENSG00000166532	ENST00000535829;ENST00000357529;ENST00000538135	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	U	0.000000	T	0.65616	0.2708	L	0.34521	1.04	0.58432	D	0.999998	D	0.65815	0.995	D	0.72982	0.979	T	0.63871	-0.6539	8	.	.	.	.	14.8197	0.70062	1.0:0.0:0.0:0.0	.	372	Q9ULI2	RIMKB_HUMAN	H	372	.	.	N	+	1	0	RIMKLB	8817600	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	8.516000	0.90552	2.172000	0.68678	0.482000	0.46254	AAC		PASS	0.483	RIMKLB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398874.1	NM_020734		25	104	25	104	---	---	---	---
SOX5	6660	broad.mit.edu	37	12	23696294	23696294	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:23696294C>G	ENST00000451604.2	-	13	1723	c.1622G>C	c.(1621-1623)aGa>aCa	p.R541T	SOX5_ENST00000546136.1_Missense_Mutation_p.R528T|SOX5_ENST00000541536.1_Missense_Mutation_p.R420T|SOX5_ENST00000545921.1_Missense_Mutation_p.R531T|SOX5_ENST00000309359.1_Missense_Mutation_p.R528T|SOX5_ENST00000396007.2_Missense_Mutation_p.R155T|SOX5_ENST00000537393.1_Missense_Mutation_p.R506T|SOX5_ENST00000381381.2_Missense_Mutation_p.R420T			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	541					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R541T(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CCTATAAATTCTTGACTCTGA	0.438																																						uc001rfw.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)	6						c.(1621-1623)AGA>ACA		SRY (sex determining region Y)-box 5 isoform a							112.0	107.0	109.0					12																	23696294		2203	4300	6503	SO:0001583	missense	6660				transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:23696294C>G	AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.1622G>C	12.37:g.23696294C>G	ENSP00000398273:p.Arg541Thr					SOX5_uc001rfx.2_Missense_Mutation_p.R528T|SOX5_uc001rfy.2_Missense_Mutation_p.R420T|SOX5_uc001rfv.2_Missense_Mutation_p.R155T|SOX5_uc010siv.1_Missense_Mutation_p.R528T|SOX5_uc010siw.1_RNA|SOX5_uc001rfz.1_Missense_Mutation_p.R493T	p.R541T	NM_006940	NP_008871	P35711	SOX5_HUMAN			13	1724	-			541					B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	c.1622G>C	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	C	35	5.595240	0.96602	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000541536;ENST00000396007;ENST00000545921	D;D;D;D;D;D;D;D	0.97480	-4.35;-4.35;-4.3;-4.35;-4.36;-4.3;-4.4;-4.35	6.17	6.17	0.99709	High mobility group, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	M	0.79926	2.475	0.43852	D	0.996448	D;D;D;D	0.67145	0.995;0.981;0.996;0.996	D;D;D;D	0.71184	0.972;0.943;0.967;0.922	D	0.98698	1.0699	10	0.72032	D	0.01	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	506;420;541;155	F5H0I3;P35711-4;P35711;P35711-3	.;.;SOX5_HUMAN;.	T	528;528;420;541;493;506;420;155;531	ENSP00000437487:R528T;ENSP00000308927:R528T;ENSP00000370788:R420T;ENSP00000398273:R541T;ENSP00000439832:R506T;ENSP00000441973:R420T;ENSP00000379328:R155T;ENSP00000443520:R531T	ENSP00000308927:R528T	R	-	2	0	SOX5	23587561	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.805000	0.86005	2.941000	0.99782	0.655000	0.94253	AGA		PASS	0.438	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940		8	232	8	232	---	---	---	---
BCDIN3D	144233	broad.mit.edu	37	12	50236666	50236666	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:50236666G>C	ENST00000333924.4	-	1	246	c.205C>G	c.(205-207)Ctg>Gtg	p.L69V	BCDIN3D-AS1_ENST00000549124.1_RNA|BCDIN3D-AS1_ENST00000548872.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	69	Bin3-type SAM. {ECO:0000255|PROSITE- ProRule:PRU00848}.				miRNA metabolic process (GO:0010586)|negative regulation of pre-miRNA processing (GO:2000632)|RNA methylation (GO:0001510)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	O-methyltransferase activity (GO:0008171)|RNA methyltransferase activity (GO:0008173)	p.L69V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						TCGAGCCCCAGAATCGGCCCG	0.617																																						uc001rvh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(205-207)CTG>GTG		BCDIN3 domain containing							58.0	66.0	64.0					12																	50236666		2203	4300	6503	SO:0001583	missense	144233						methyltransferase activity	g.chr12:50236666G>C		CCDS8790.1	12q13.13	2008-03-12				ENSG00000186666			27050	protein-coding gene	gene with protein product							Standard	NM_181708		Approved		uc001rvh.3	Q7Z5W3	OTTHUMG00000169807	ENST00000333924.4:c.205C>G	12.37:g.50236666G>C	ENSP00000335201:p.Leu69Val						p.L69V	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN			1	247	-			69			Bin3-type SAM.		A8K829	Missense_Mutation	SNP	ENST00000333924.4	37	c.205C>G	CCDS8790.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.66|16.66	3.184972|3.184972	0.57909|0.57909	.|.	.|.	ENSG00000186666|ENSG00000186666	ENST00000550861|ENST00000333924	.|T	.|0.48522	.|0.81	6.08|6.08	5.19|5.19	0.71726|0.71726	.|Bin3-type S-adenosyl-L-methionine binding domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.61553|0.61553	0.2356|0.2356	L|L	0.58101|0.58101	1.795|1.795	0.28538|0.28538	N|N	0.912236|0.912236	.|D	.|0.76494	.|0.999	.|D	.|0.80764	.|0.994	T|T	0.57159|0.57159	-0.7859|-0.7859	6|10	0.87932|0.20519	D|T	0|0.43	.|.	12.9818|12.9818	0.58568|0.58568	0.0773:0.0:0.9227:0.0|0.0773:0.0:0.9227:0.0	.|.	.|69	.|Q7Z5W3	.|BN3D2_HUMAN	L|V	61|69	.|ENSP00000335201:L69V	ENSP00000447796:F61L|ENSP00000335201:L69V	F|L	-|-	3|1	2|2	BCDIN3D|BCDIN3D	48522933|48522933	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.947000|0.947000	0.59692|0.59692	3.027000|3.027000	0.49697|0.49697	1.590000|1.590000	0.49995|0.49995	0.591000|0.591000	0.81541|0.81541	TTC|CTG		PASS	0.617	BCDIN3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405982.1	NM_181708		12	239	12	239	---	---	---	---
OS9	10956	broad.mit.edu	37	12	58114586	58114586	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:58114586C>T	ENST00000315970.7	+	15	1939	c.1898C>T	c.(1897-1899)gCc>gTc	p.A633V	OS9_ENST00000439210.2_Missense_Mutation_p.A504V|OS9_ENST00000552285.1_Missense_Mutation_p.A578V|OS9_ENST00000389142.5_Missense_Mutation_p.A563V|OS9_ENST00000389146.6_Missense_Mutation_p.A618V|OS9_ENST00000435406.2_Missense_Mutation_p.A526V|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000551035.1_Missense_Mutation_p.A546V|RP11-571M6.8_ENST00000548410.2_RNA|OS9_ENST00000257966.8_Missense_Mutation_p.A579V|OS9_ENST00000413095.2_Missense_Mutation_p.A372V	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	633					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)	p.A633V(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GCTGAAGAGGCCCAGAAGGAA	0.657																																						uc001spj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1897-1899)GCC>GTC		osteosarcoma amplified 9, endoplasmic reticulum							54.0	53.0	53.0					12																	58114586		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58114586C>T	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.1898C>T	12.37:g.58114586C>T	ENSP00000318165:p.Ala633Val					OS9_uc010srx.1_Missense_Mutation_p.A372V|OS9_uc001spk.2_Missense_Mutation_p.A618V|OS9_uc001spl.2_Missense_Mutation_p.A578V|OS9_uc001spm.2_Missense_Mutation_p.A563V|OS9_uc001spn.2_Missense_Mutation_p.A579V|OS9_uc010sry.1_Missense_Mutation_p.A546V|OS9_uc010srz.1_Missense_Mutation_p.A504V	p.A633V	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		15	1957	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		633					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.1898C>T	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.945061	0.53079	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000389142	T;T;T;T;T;T;T;T;T	0.31510	1.82;2.01;1.83;2.0;1.49;1.82;1.82;1.81;1.89	5.29	5.29	0.74685	.	0.119917	0.56097	D	0.000027	T	0.13798	0.0334	N	0.04880	-0.145	0.35076	D	0.762946	P;P;P;P;P;P;B;B	0.43578	0.59;0.713;0.59;0.811;0.59;0.533;0.151;0.214	B;B;B;B;B;B;B;B	0.38264	0.113;0.225;0.113;0.269;0.113;0.102;0.02;0.031	T	0.11641	-1.0579	10	0.02654	T	1	.	15.9613	0.79933	0.0:1.0:0.0:0.0	.	504;546;372;579;563;578;618;633	E7EW91;F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;.;OS9_HUMAN	V	578;633;504;618;372;546;579;526;563	ENSP00000450010:A578V;ENSP00000318165:A633V;ENSP00000407360:A504V;ENSP00000373798:A618V;ENSP00000413112:A372V;ENSP00000447866:A546V;ENSP00000257966:A579V;ENSP00000389632:A526V;ENSP00000373794:A563V	ENSP00000257966:A579V	A	+	2	0	OS9	56400853	0.993000	0.37304	0.981000	0.43875	0.785000	0.44390	3.169000	0.50809	2.744000	0.94065	0.655000	0.94253	GCC		PASS	0.657	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812		21	70	21	70	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88586608	88586608	+	Splice_Site	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:88586608G>T	ENST00000266712.6	+	13	2153		c.e13+1			NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3						bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)		p.?(1)		NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CAAGAATCAGGTATGTTTTCT	0.279																																						uc001tau.2																			1	Unknown(1)		lung(1)	skin(1)	1						c.e13+1		transmembrane and tetratricopeptide repeat							37.0	39.0	39.0					12																	88586608		2203	4296	6499	SO:0001630	splice_region_variant	160418					integral to membrane	binding	g.chr12:88586608G>T		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1933+1G>T	12.37:g.88586608G>T							p.G645_splice	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN			13	2153	+								Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Splice_Site	SNP	ENST00000266712.6	37	c.1933_splice	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551590	0.86127	.	.	ENSG00000139324	ENST00000266712	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.311	0.94187	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TMTC3	87110739	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.847000	0.99503	2.578000	0.87016	0.467000	0.42956	.		PASS	0.279	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783	Intron	7	43	7	43	---	---	---	---
NEDD1	121441	broad.mit.edu	37	12	97328810	97328810	+	Silent	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr12:97328810G>T	ENST00000266742.4	+	7	885	c.546G>T	c.(544-546)tcG>tcT	p.S182S	NEDD1_ENST00000457368.2_Silent_p.S93S|NEDD1_ENST00000557644.1_Silent_p.S189S|NEDD1_ENST00000555114.1_3'UTR|NEDD1_ENST00000429527.2_Silent_p.S182S|NEDD1_ENST00000411739.2_Silent_p.S93S	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	182					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	apical part of cell (GO:0045177)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|pericentriolar material (GO:0000242)|spindle pole (GO:0000922)		p.S182S(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						GCAGTGTTTCGGATAATGGAA	0.363																																						uc001teu.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(544-546)TCG>TCT		neural precursor cell expressed, developmentally							167.0	160.0	163.0					12																	97328810		2203	4300	6503	SO:0001819	synonymous_variant	121441				cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol		g.chr12:97328810G>T		CCDS9063.1, CCDS44955.1, CCDS44956.1	12q23.1	2013-01-10			ENSG00000139350	ENSG00000139350		"""WD repeat domain containing"""	7723	protein-coding gene	gene with protein product		600372					Standard	NM_001135175		Approved	GCP-WD, TUBGCP7	uc001tev.4	Q8NHV4	OTTHUMG00000170604	ENST00000266742.4:c.546G>T	12.37:g.97328810G>T						NEDD1_uc001tev.3_Silent_p.S182S|NEDD1_uc010svc.1_Silent_p.S93S|NEDD1_uc001tew.2_Silent_p.S189S|NEDD1_uc001tex.2_Silent_p.S93S	p.S182S	NM_152905	NP_690869	Q8NHV4	NEDD1_HUMAN			7	885	+			182			WD 5.		B0AZN0|B4E145|G3V3F1|Q8NA30	Silent	SNP	ENST00000266742.4	37	c.546G>T	CCDS9063.1																																																																																				PASS	0.363	NEDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409792.1			4	319	4	319	---	---	---	---
VWA8	23078	broad.mit.edu	37	13	42245198	42245198	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr13:42245198C>T	ENST00000379310.3	-	37	4563	c.4495G>A	c.(4495-4497)Gtt>Att	p.V1499I		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1499						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V1499I(1)									ACAGTAACAACACCGCTTTTG	0.478																																						uc001uyj.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1)	6						c.(4495-4497)GTT>ATT		hypothetical protein LOC23078 isoform a							200.0	198.0	199.0					13																	42245198		2009	4189	6198	SO:0001583	missense	23078					extracellular region	ATP binding|ATPase activity	g.chr13:42245198C>T	AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.4495G>A	13.37:g.42245198C>T	ENSP00000368612:p.Val1499Ile						p.V1499I	NM_015058	NP_055873	A3KMH1	K0564_HUMAN		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)	37	4565	-		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)	1499					O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	ENST00000379310.3	37	c.4495G>A	CCDS41881.1	.	.	.	.	.	.	.	.	.	.	C	6.574	0.474243	0.12521	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.11063	2.81	5.57	5.57	0.84162	.	0.066432	0.64402	D	0.000015	T	0.11750	0.0286	L	0.51422	1.61	0.80722	D	1	P	0.37441	0.595	B	0.34931	0.192	T	0.11567	-1.0582	10	0.22109	T	0.4	.	15.2761	0.73742	0.1487:0.8513:0.0:0.0	.	1499	A3KMH1	K0564_HUMAN	I	1403;1499	ENSP00000368612:V1499I	ENSP00000251030:V1403I	V	-	1	0	KIAA0564	41143198	0.648000	0.27313	0.327000	0.25402	0.024000	0.10985	1.307000	0.33516	2.640000	0.89533	0.655000	0.94253	GTT		PASS	0.478	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354828.2	NM_015058		55	255	55	255	---	---	---	---
ERCC5	2073	broad.mit.edu	37	13	103513987	103513987	+	Missense_Mutation	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr13:103513987A>G	ENST00000355739.4	+	7	2226	c.803A>G	c.(802-804)gAt>gGt	p.D268G	BIVM-ERCC5_ENST00000602836.1_Silent_p.R693R	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	268					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.D268G(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					CAGTATGAAGATGAAGGGGGC	0.403			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc001vpw.2			yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	Mis|N|F	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""			E		skin basal cell|skin squamous cell|melanoma			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(802-804)GAT>GGT	Direct_reversal_of_damage|NER	XPG-complementing protein							128.0	131.0	130.0					13																	103513987		2203	4300	6503	SO:0001583	missense	2073	Xeroderma_Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	negative regulation of apoptosis|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|response to UV-C|transcription-coupled nucleotide-excision repair|UV protection	nucleoplasm	bubble DNA binding|double-stranded DNA binding|endodeoxyribonuclease activity|metal ion binding|protein homodimerization activity|protein N-terminus binding|single-stranded DNA binding	g.chr13:103513987A>G	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.803A>G	13.37:g.103513987A>G	ENSP00000347978:p.Asp268Gly					ERCC5_uc001vpu.1_Missense_Mutation_p.D722G|ERCC5_uc010tjb.1_Missense_Mutation_p.D268G|ERCC5_uc010tjc.1_RNA|ERCC5_uc010tjd.1_Missense_Mutation_p.D100G	p.D268G	NM_000123	NP_000114	P28715	ERCC5_HUMAN			7	1246	+	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)		268					A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	ENST00000355739.4	37	c.803A>G	CCDS32004.1	.	.	.	.	.	.	.	.	.	.	A	13.57	2.276371	0.40294	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.20463	2.07	5.59	4.38	0.52667	.	0.890365	0.10089	N	0.717428	T	0.22781	0.0550	M	0.62723	1.935	0.22940	N	0.998534	B;P;B	0.35328	0.349;0.495;0.293	B;B;B	0.29862	0.108;0.106;0.073	T	0.11397	-1.0589	10	0.32370	T	0.25	-2.3254	11.5264	0.50582	0.7147:0.2853:0.0:0.0	.	268;268;693	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	G	693;268;100	ENSP00000347978:D268G	ENSP00000347978:D268G	D	+	2	0	ERCC5	102311988	0.050000	0.20438	0.031000	0.17742	0.990000	0.78478	1.478000	0.35442	0.904000	0.36572	0.455000	0.32223	GAT		PASS	0.403	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1			43	157	43	157	---	---	---	---
RALGAPA1	253959	broad.mit.edu	37	14	36133969	36133969	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr14:36133969G>A	ENST00000389698.3	-	26	4079	c.3689C>T	c.(3688-3690)cCa>cTa	p.P1230L	RALGAPA1_ENST00000258840.6_Missense_Mutation_p.P1277L|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.P1230L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.P1243L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1230					activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.P1230L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCTACTCTTGGTGCCTATGT	0.353																																						uc001wti.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|breast(1)	4						c.(3688-3690)CCA>CTA		Ral GTPase activating protein, alpha subunit 1							73.0	73.0	73.0					14																	36133969		2203	4300	6503	SO:0001583	missense	253959				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	g.chr14:36133969G>A	AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.3689C>T	14.37:g.36133969G>A	ENSP00000374348:p.Pro1230Leu					RALGAPA1_uc010amp.2_RNA|RALGAPA1_uc001wtj.2_Missense_Mutation_p.P1230L|RALGAPA1_uc010tpv.1_Missense_Mutation_p.P1243L|RALGAPA1_uc010tpw.1_Missense_Mutation_p.P1277L	p.P1230L	NM_014990	NP_055805	Q6GYQ0	RGPA1_HUMAN			26	4080	-			1230					A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	c.3689C>T	CCDS32065.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898807	0.91962	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000382366;ENST00000553892	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.78960	0.4366	M	0.62088	1.915	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;0.999;1.0	D;D;D;D	0.91635	0.999;0.973;0.984;0.996	T	0.79376	-0.1829	10	0.87932	D	0	-11.5565	20.1277	0.97990	0.0:0.0:1.0:0.0	.	1277;1243;1230;1230	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	L	1230;1230;1230;1277;1243;1277	ENSP00000374348:P1230L;ENSP00000302647:P1230L;ENSP00000258840:P1277L;ENSP00000371803:P1243L;ENSP00000451877:P1277L	ENSP00000258840:P1277L	P	-	2	0	RALGAPA1	35203720	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.619000	0.98369	2.755000	0.94549	0.563000	0.77884	CCA		PASS	0.353	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		8	73	8	73	---	---	---	---
MDGA2	161357	broad.mit.edu	37	14	47389251	47389251	+	Silent	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr14:47389251C>T	ENST00000399232.2	-	10	2359	c.1995G>A	c.(1993-1995)gtG>gtA	p.V665V	MDGA2_ENST00000357362.3_Silent_p.V436V|MDGA2_ENST00000439988.3_Silent_p.V734V|MDGA2_ENST00000426342.1_Silent_p.V436V	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	665	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V436V(2)|p.V734V(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CAATCCGATCCACTGCATCAG	0.428																																						uc001wwj.3																			3	Substitution - coding silent(3)		lung(3)	ovary(4)|large_intestine(1)|pancreas(1)	6						c.(1993-1995)GTG>GTA		MAM domain containing 1 isoform 1							129.0	122.0	124.0					14																	47389251		1914	4130	6044	SO:0001819	synonymous_variant	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47389251C>T	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1995G>A	14.37:g.47389251C>T						MDGA2_uc001wwi.3_Silent_p.V436V|MDGA2_uc010ani.2_Silent_p.V225V	p.V665V	NM_001113498	NP_001106970	Q7Z553	MDGA2_HUMAN			10	2191	-			665					F6W3S7|J3KPX6	Silent	SNP	ENST00000399232.2	37	c.1995G>A																																																																																					PASS	0.428	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		12	73	12	73	---	---	---	---
DCAF5	8816	broad.mit.edu	37	14	69521877	69521877	+	Missense_Mutation	SNP	C	C	A	rs150859516		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr14:69521877C>A	ENST00000341516.5	-	9	1673	c.1526G>T	c.(1525-1527)cGc>cTc	p.R509L	DCAF5_ENST00000557386.1_Missense_Mutation_p.R508L|DCAF5_ENST00000556847.1_Missense_Mutation_p.R427L|DCAF5_ENST00000553293.1_5'Flank|DCAF5_ENST00000554215.1_Missense_Mutation_p.R427L	NM_001284206.1|NM_001284207.1|NM_003861.2	NP_001271135.1|NP_001271136.1|NP_003852.1	Q96JK2	DCAF5_HUMAN	DDB1 and CUL4 associated factor 5	509					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|mitochondrion (GO:0005739)		p.R509L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ACGCTGCTGGCGAGAGGCTGC	0.592																																						uc001xkp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1525-1527)CGC>CTC		WD repeat domain 22							44.0	44.0	44.0					14																	69521877		2203	4300	6503	SO:0001583	missense	8816					CUL4 RING ubiquitin ligase complex		g.chr14:69521877C>A	AB058727	CCDS32106.1, CCDS61480.1, CCDS61481.1, CCDS73646.1	14q23-q24.1	2013-01-09	2009-07-17	2009-07-17				"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20224	protein-coding gene	gene with protein product		603812	"""WD repeat domain 22"""	WDR22		9740667, 9521877	Standard	NM_003861		Approved	BCRP2, D14S1461E, BCRG2, KIAA1824	uc001xkp.3	Q96JK2		ENST00000341516.5:c.1526G>T	14.37:g.69521877C>A	ENSP00000341351:p.Arg509Leu					DCAF5_uc001xkq.2_Missense_Mutation_p.R508L	p.R509L	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN			9	1745	-			509					B2RN31|G3V4J7|O60559|Q8N3V3|Q8N3V5	Missense_Mutation	SNP	ENST00000341516.5	37	c.1526G>T	CCDS32106.1	.	.	.	.	.	.	.	.	.	.	C	13.79	2.341631	0.41498	.	.	ENSG00000139990	ENST00000341516;ENST00000554215;ENST00000556847;ENST00000557386	T;T;T;T	0.69306	-0.39;-0.22;-0.22;0.2	4.89	4.89	0.63831	.	0.375180	0.27016	N	0.021342	T	0.65015	0.2651	L	0.29908	0.895	0.80722	D	1	D;D	0.57257	0.979;0.965	P;P	0.53861	0.736;0.549	T	0.67837	-0.5567	10	0.66056	D	0.02	-14.9711	11.6851	0.51481	0.0:0.9196:0.0:0.0804	.	508;509	G3V4J7;Q96JK2	.;DCAF5_HUMAN	L	509;427;427;508	ENSP00000341351:R509L;ENSP00000451551:R427L;ENSP00000452052:R427L;ENSP00000451845:R508L	ENSP00000341351:R509L	R	-	2	0	DCAF5	68591630	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	2.638000	0.46562	2.533000	0.85409	0.561000	0.74099	CGC		PASS	0.592	DCAF5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000414806.2	NM_003861		15	27	15	27	---	---	---	---
LINC00521	256369	broad.mit.edu	37	14	94467537	94467537	+	RNA	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr14:94467537G>C	ENST00000444118.1	+	0	615					NR_024182.1		Q8NCU1	CN048_HUMAN	long intergenic non-protein coding RNA 521									p.T75T(1)									TGGAGGCCACGGTGAAGCACT	0.667																																						uc001ycg.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(37-39)GGT>CGT		Homo sapiens cDNA FLJ40422 fis, clone TESTI2038858.							59.0	48.0	51.0					14																	94467537		2203	4300	6503			256369							g.chr14:94467537G>C	BI463117		14q32.12	2012-10-12	2011-11-29	2011-11-29	ENSG00000175699	ENSG00000175699		"""Long non-coding RNAs"""	19860	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 48"""	C14orf48			Standard	NR_024182		Approved		uc001ycg.1	Q8NCU1	OTTHUMG00000156974		14.37:g.94467537G>C						C14orf48_uc001ycf.2_RNA|C14orf48_uc010twp.1_RNA	p.G13R	NR_024184					Epithelial(152;0.114)|all cancers(159;0.191)|COAD - Colon adenocarcinoma(157;0.208)	4	643	+								Q8N7S1	Missense_Mutation	SNP	ENST00000444118.1	37	c.37G>C																																																																																					PASS	0.667	LINC00521-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000346916.1			12	35	12	35	---	---	---	---
SLC25A47	283600	broad.mit.edu	37	14	100795213	100795213	+	Missense_Mutation	SNP	C	C	T	rs375726722		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr14:100795213C>T	ENST00000361529.3	+	5	556	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	SLC25A47_ENST00000557052.1_Missense_Mutation_p.R14C	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	160					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)		p.R160C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GCCCAAGTACCGCGGGCCACT	0.701													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16631	0.0		0.0	False		,,,				2504	0.0				GBM(11;1289 1351)	uc001yhc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(478-480)CGC>TGC		chromosome 14 open reading frame 68		C	CYS/ARG	0,4396		0,0,2198	22.0	22.0	22.0		478	2.9	0.8	14		22	1,8573		0,1,4286	no	missense	SLC25A47	NM_207117.2	180	0,1,6484	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	160/309	100795213	1,12969	2198	4287	6485	SO:0001583	missense	283600				transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr14:100795213C>T		CCDS9959.1	14q32.2	2013-05-22	2010-07-19	2010-07-19	ENSG00000140107	ENSG00000140107		"""Solute carriers"""	20115	protein-coding gene	gene with protein product		609911	"""chromosome 14 open reading frame 68"""	C14orf68			Standard	NM_207117		Approved		uc001yhc.3	Q6Q0C1	OTTHUMG00000171571	ENST00000361529.3:c.478C>T	14.37:g.100795213C>T	ENSP00000354886:p.Arg160Cys					C14orf68_uc001yhd.2_Missense_Mutation_p.R14C	p.R160C	NM_207117	NP_997000	Q6Q0C1	S2547_HUMAN			5	551	+		Melanoma(154;0.152)	160			Solcar 2.		B2RP39|Q68CL2|Q6PZD8|Q86U14	Missense_Mutation	SNP	ENST00000361529.3	37	c.478C>T	CCDS9959.1	.	.	.	.	.	.	.	.	.	.	C	13.25	2.180324	0.38511	0.0	1.17E-4	ENSG00000140107	ENST00000361529;ENST00000557052	T;T	0.79940	-1.32;-1.32	4.89	2.9	0.33743	Mitochondrial carrier domain (2);	0.588264	0.19042	N	0.124244	D	0.88202	0.6373	M	0.88704	2.975	0.38478	D	0.947637	D	0.62365	0.991	P	0.61940	0.896	D	0.88444	0.3044	10	0.72032	D	0.01	-0.5371	7.6215	0.28187	0.4322:0.4919:0.0:0.076	.	160	Q6Q0C1	S2547_HUMAN	C	160;14	ENSP00000354886:R160C;ENSP00000451078:R14C	ENSP00000354886:R160C	R	+	1	0	SLC25A47	99864966	0.302000	0.24454	0.801000	0.32222	0.072000	0.16883	0.945000	0.29056	0.986000	0.38683	0.491000	0.48974	CGC		PASS	0.701	SLC25A47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414231.1			4	31	4	31	---	---	---	---
IGHV3-35	28432	broad.mit.edu	37	14	106845549	106845549	+	RNA	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr14:106845549G>T	ENST00000390617.2	-	0	139									immunoglobulin heavy variable 3-35 (non-functional)																		TCCAGAGGCTGCACAGGAGAG	0.572																																						uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							109.0	102.0	104.0					14																	106845549		1875	4106	5981			8755							g.chr14:106845549G>T	M99666		14q32.33	2012-02-08	2008-08-22		ENSG00000211957	ENSG00000211957		"""Immunoglobulins / IGH locus"""	5598	other	immunoglobulin gene			"""immunoglobulin heavy variable 3-35"""				Standard	NG_001019		Approved				OTTHUMG00000152079		14.37:g.106845549G>T														304		-									RNA	SNP	ENST00000390617.2	37	c.12168C>A																																																																																					PASS	0.572	IGHV3-35-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325174.1	NG_001019		14	215	14	215	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	34105732	34105732	+	Missense_Mutation	SNP	G	G	T	rs192619532		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr15:34105732G>T	ENST00000389232.4	+	74	10524	c.10454G>T	c.(10453-10455)cGg>cTg	p.R3485L	RYR3_ENST00000415757.3_Missense_Mutation_p.R3480L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3485	Interaction with CALM. {ECO:0000250}.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R3485L(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAACGGAAACGGGCAGTGGTG	0.522																																						uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(10453-10455)CGG>CTG		ryanodine receptor 3							136.0	134.0	135.0					15																	34105732		1956	4137	6093	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34105732G>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.10454G>T	15.37:g.34105732G>T	ENSP00000373884:p.Arg3485Leu					RYR3_uc010bar.2_Missense_Mutation_p.R3480L	p.R3485L	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	74	10524	+		all_lung(180;7.18e-09)	3485					O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.10454G>T	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	G	32	5.108345	0.94292	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D	0.97941	-4.62	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000001	D	0.98548	0.9515	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.76575	0.94;0.988	D	0.99809	1.1040	10	0.87932	D	0	.	18.1303	0.89599	0.0:0.0:1.0:0.0	.	3480;3485	Q15413-2;Q15413	.;RYR3_HUMAN	L	3485;3485;3480	ENSP00000373884:R3485L	ENSP00000354735:R3480L	R	+	2	0	RYR3	31893024	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.601000	0.98297	2.511000	0.84671	0.655000	0.94253	CGG		PASS	0.522	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			25	190	25	190	---	---	---	---
SHC4	399694	broad.mit.edu	37	15	49255141	49255141	+	Missense_Mutation	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr15:49255141C>A	ENST00000332408.4	-	1	500	c.72G>T	c.(70-72)atG>atT	p.M24I		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	24	CH2.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)		p.M24I(1)		breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CCCTGTGCAGCATCCCGGGGT	0.622																																						uc001zxb.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)	5						c.(70-72)ATG>ATT		rai-like protein							73.0	79.0	77.0					15																	49255141		2195	4294	6489	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49255141C>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.72G>T	15.37:g.49255141C>A	ENSP00000329668:p.Met24Ile						p.M24I	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	1	501	-		all_lung(180;0.00466)	24			CH2.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.72G>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.496819	0.85069	.	.	ENSG00000185634	ENST00000332408	T	0.07567	3.18	4.63	4.63	0.57726	.	0.000000	0.64402	D	0.000001	T	0.27241	0.0668	M	0.64404	1.975	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.01290	-1.1394	10	0.72032	D	0.01	1.5243	17.3133	0.87215	0.0:1.0:0.0:0.0	.	24	Q6S5L8	SHC4_HUMAN	I	24	ENSP00000329668:M24I	ENSP00000329668:M24I	M	-	3	0	SHC4	47042433	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.466000	0.73543	2.401000	0.81631	0.655000	0.94253	ATG		PASS	0.622	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		26	154	26	154	---	---	---	---
LINGO1	84894	broad.mit.edu	37	15	77907356	77907356	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr15:77907356G>A	ENST00000355300.6	-	2	1067	c.893C>T	c.(892-894)cCc>cTc	p.P298L	LINGO1_ENST00000561030.1_Missense_Mutation_p.P292L	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	298				P -> R (in Ref. 5; AAH68558). {ECO:0000305}.	central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P292L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTGCTGATGGGGTTGTAGGA	0.617																																						uc002bct.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(892-894)CCC>CTC		leucine-rich repeat neuronal 6A							79.0	77.0	78.0					15																	77907356		2178	4272	6450	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907356G>A	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.893C>T	15.37:g.77907356G>A	ENSP00000347451:p.Pro298Leu					LINGO1_uc002bcu.1_Missense_Mutation_p.P292L	p.P298L	NM_032808	NP_116197	Q96FE5	LIGO1_HUMAN			2	945	-			298	P -> R (in Ref. 5; AAH68558).		Extracellular (Potential).|LRR 9.		D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.893C>T	CCDS45313.1	.	.	.	.	.	.	.	.	.	.	G	18.10	3.548032	0.65311	.	.	ENSG00000169783	ENST00000355300	T	0.79141	-1.24	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.72479	2.2	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88380	0.3001	10	0.59425	D	0.04	.	19.0471	0.93025	0.0:0.0:1.0:0.0	.	298	Q96FE5	LIGO1_HUMAN	L	298	ENSP00000347451:P298L	ENSP00000347451:P298L	P	-	2	0	LINGO1	75694411	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.863000	0.87023	2.513000	0.84729	0.462000	0.41574	CCC		PASS	0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		11	82	11	82	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78473261	78473261	+	Silent	SNP	C	C	A	rs147846122		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr15:78473261C>A	ENST00000258873.4	-	9	1294	c.1089G>T	c.(1087-1089)acG>acT	p.T363T	ACSBG1_ENST00000560817.1_Silent_p.T121T|ACSBG1_ENST00000541759.1_Silent_p.T121T	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	363					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.T363T(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCTCCCGCAGCGTGTTCACCA	0.652																																						uc002bdh.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1087-1089)ACG>ACT		lipidosin		C	,	0,4392		0,0,2196	67.0	60.0	62.0		1077,1089	-11.0	0.6	15	dbSNP_134	62	1,8585	1.2+/-3.3	0,1,4292	no	coding-synonymous,coding-synonymous	ACSBG1	NM_001199377.1,NM_015162.4	,	0,1,6488	AA,AC,CC		0.0116,0.0,0.0077	,	359/721,363/725	78473261	1,12977	2196	4293	6489	SO:0001819	synonymous_variant	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78473261C>A	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.1089G>T	15.37:g.78473261C>A						ACSBG1_uc010umw.1_Silent_p.T359T|ACSBG1_uc010umx.1_Silent_p.T121T|ACSBG1_uc010umy.1_Silent_p.T256T	p.T363T	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			9	1145	-			363					B2RB61|O75126|Q76N27|Q9HC26	Silent	SNP	ENST00000258873.4	37	c.1089G>T	CCDS10298.1																																																																																				PASS	0.652	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		3	107	3	107	---	---	---	---
ACSBG1	23205	broad.mit.edu	37	15	78526837	78526837	+	Missense_Mutation	SNP	G	G	T	rs557069269		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr15:78526837G>T	ENST00000258873.4	-	1	212	c.7C>A	c.(7-9)Cgc>Agc	p.R3S	ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000541759.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	3					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.R3S(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CCAGAATTGCGTGGCATCTGC	0.632																																						uc002bdh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(7-9)CGC>AGC		lipidosin							98.0	104.0	102.0					15																	78526837		2196	4293	6489	SO:0001583	missense	23205				long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	g.chr15:78526837G>T	AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.7C>A	15.37:g.78526837G>T	ENSP00000258873:p.Arg3Ser					ACSBG1_uc010umw.1_Missense_Mutation_p.R3S|ACSBG1_uc010umx.1_5'UTR|ACSBG1_uc010umy.1_5'UTR	p.R3S	NM_015162	NP_055977	Q96GR2	ACBG1_HUMAN			1	63	-			3					B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	ENST00000258873.4	37	c.7C>A	CCDS10298.1	.	.	.	.	.	.	.	.	.	.	G	14.89	2.671749	0.47781	.	.	ENSG00000103740	ENST00000258873	T	0.33654	1.4	4.61	2.66	0.31614	.	1.186280	0.06397	N	0.718120	T	0.30792	0.0776	L	0.36672	1.1	0.09310	N	0.999993	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.28933	-1.0028	10	0.72032	D	0.01	-7.7417	8.002	0.30301	0.2061:0.0:0.7939:0.0	.	3;3	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	S	3	ENSP00000258873:R3S	ENSP00000258873:R3S	R	-	1	0	ACSBG1	76313892	0.040000	0.19996	0.313000	0.25210	0.591000	0.36615	1.345000	0.33953	1.042000	0.40150	0.462000	0.41574	CGC		PASS	0.632	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289802.2	NM_015162		15	99	15	99	---	---	---	---
OR4F6	390648	broad.mit.edu	37	15	102346435	102346435	+	Silent	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr15:102346435T>C	ENST00000328882.4	+	1	534	c.513T>C	c.(511-513)ccT>ccC	p.P171P		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P171P(1)		breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TCTGTGGCCCTAATGAATTAG	0.383																																						uc010utr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(511-513)CCT>CCC		olfactory receptor, family 4, subfamily F,							223.0	215.0	218.0					15																	102346435		2203	4300	6503	SO:0001819	synonymous_variant	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102346435T>C	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.513T>C	15.37:g.102346435T>C							p.P171P	NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	513	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		171			Extracellular (Potential).		B9EH28|Q6IF95	Silent	SNP	ENST00000328882.4	37	c.513T>C	CCDS32341.1																																																																																				PASS	0.383	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			4	520	4	520	---	---	---	---
TSC2	7249	broad.mit.edu	37	16	2138231	2138231	+	Missense_Mutation	SNP	G	G	C	rs397515270		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr16:2138231G>C	ENST00000219476.3	+	41	5794	c.5164G>C	c.(5164-5166)Gcc>Ccc	p.A1722P	TSC2_ENST00000439673.2_Missense_Mutation_p.A1619P|MIR1225_ENST00000408729.1_RNA|TSC2_ENST00000353929.4_Missense_Mutation_p.A1679P|TSC2_ENST00000382538.6_Missense_Mutation_p.A1607P|TSC2_ENST00000568454.1_Missense_Mutation_p.A1666P|TSC2_ENST00000350773.4_Missense_Mutation_p.A1699P|TSC2_ENST00000401874.2_Missense_Mutation_p.A1655P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1722	Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)	p.A1722P(2)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TCCCCAGATGGCCTCACAGGT	0.647			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																													uc002con.2			yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	D|Mis|N|F|S	tuberous sclerosis 2 gene			"""E, O"""		hamartoma|renal cell			2	Substitution - Missense(2)		lung(2)	central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1)	10						c.(5164-5166)GCC>CCC		tuberous sclerosis 2 isoform 1							100.0	105.0	103.0					16																	2138231		2198	4300	6498	SO:0001583	missense	7249	Tuberous_Sclerosis	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity	g.chr16:2138231G>C	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.5164G>C	16.37:g.2138231G>C	ENSP00000219476:p.Ala1722Pro					TSC2_uc010bsd.2_Missense_Mutation_p.A1699P|TSC2_uc002coo.2_Missense_Mutation_p.A1655P|TSC2_uc010uvv.1_Missense_Mutation_p.A1619P|TSC2_uc010uvw.1_Missense_Mutation_p.A1607P|TSC2_uc002cop.2_Missense_Mutation_p.A1478P|TSC2_uc002coq.2_Missense_Mutation_p.A497P|TSC2_uc002cor.2_Missense_Mutation_p.A423P	p.A1722P	NM_000548	NP_000539	P49815	TSC2_HUMAN			41	5270	+		Hepatocellular(780;0.0202)	1722			Rap-GAP.		A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Missense_Mutation	SNP	ENST00000219476.3	37	c.5164G>C	CCDS10458.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.052215	0.75960	.	.	ENSG00000103197	ENST00000219476;ENST00000401874;ENST00000353929;ENST00000439673;ENST00000382538;ENST00000350773	D;D;D;D;D	0.95853	-3.83;-3.83;-3.83;-3.83;-3.83	4.21	4.21	0.49690	Rap/ran-GAP (2);	0.000000	0.85682	D	0.000000	D	0.97464	0.9170	M	0.78049	2.395	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.998;0.995;0.997;0.998;0.998;0.998	D	0.97801	1.0244	10	0.51188	T	0.08	-23.4135	16.9488	0.86237	0.0:0.0:1.0:0.0	.	1607;1619;1699;497;1678;1655;1722	B4DIL8;P49815-6;P49815-4;B3KSR9;P49815-3;P49815-5;P49815	.;.;.;.;.;.;TSC2_HUMAN	P	1722;1656;1679;1619;1607;1699	ENSP00000219476:A1722P;ENSP00000248099:A1679P;ENSP00000399232:A1619P;ENSP00000371978:A1607P;ENSP00000344383:A1699P	ENSP00000219476:A1722P	A	+	1	0	TSC2	2078232	1.000000	0.71417	1.000000	0.80357	0.375000	0.29983	9.698000	0.98700	2.065000	0.61736	0.313000	0.20887	GCC		PASS	0.647	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250657.2	NM_000548		8	135	8	135	---	---	---	---
ABCC12	94160	broad.mit.edu	37	16	48158195	48158195	+	Splice_Site	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr16:48158195C>A	ENST00000311303.3	-	10	1861	c.1516G>T	c.(1516-1518)Ggg>Tgg	p.G506W	ABCC12_ENST00000416054.1_Splice_Site_p.G506W|ABCC12_ENST00000448542.1_Splice_Site_p.G506W	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	506	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)	p.G506R(1)|p.G506W(1)		NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AAGATCTTCCCCTGCCAGAGA	0.537																																						uc002efc.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1516-1518)GGG>TGG		ATP-binding cassette protein C12							190.0	169.0	176.0					16																	48158195		2201	4300	6501	SO:0001630	splice_region_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48158195C>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.1516-1G>T	16.37:g.48158195C>A						ABCC12_uc002eey.1_RNA|ABCC12_uc002eez.1_RNA|ABCC12_uc002efa.1_RNA|ABCC12_uc002efb.1_RNA|ABCC12_uc002efd.1_RNA|ABCC12_uc002efe.1_Missense_Mutation_p.G506W	p.G506W	NM_033226	NP_150229	Q96J65	MRP9_HUMAN			10	1862	-		all_cancers(37;0.0474)|all_lung(18;0.047)	506			ABC transporter 1.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.1516G>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	C	26.2	4.715996	0.89205	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939;ENST00000416054	D;D;D	0.96396	-4.0;-4.0;-4.0	5.79	5.79	0.91817	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	D	0.99152	0.9707	H	0.99415	4.555	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98797	1.0738	10	0.87932	D	0	.	18.806	0.92037	0.0:1.0:0.0:0.0	.	506;506	Q96J65-2;Q96J65	.;MRP9_HUMAN	W	506;506;448;506	ENSP00000311030:G506W;ENSP00000401855:G506W;ENSP00000413046:G506W	ENSP00000311030:G506W	G	-	1	0	ABCC12	46715696	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.058000	0.76676	2.733000	0.93635	0.650000	0.86243	GGG		PASS	0.537	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226	Missense_Mutation	66	256	66	256	---	---	---	---
CYLD	1540	broad.mit.edu	37	16	50825602	50825602	+	Splice_Site	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr16:50825602G>T	ENST00000427738.3	+	14	2446		c.e14+1		CYLD_ENST00000540145.1_Splice_Site|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000569418.1_Splice_Site|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000568704.2_Splice_Site|CYLD_ENST00000566206.1_Splice_Site|CYLD_ENST00000398568.2_Splice_Site|CYLD_ENST00000564326.1_Splice_Site|CYLD_ENST00000311559.9_Splice_Site			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)						cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.?(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATTTGCAGAGGTTAGTGATAC	0.343			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																													uc002egp.1			yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	Mis|N|F|S	familial cylindromatosis gene			E		cylindroma	cylindroma		1	Unknown(1)		lung(1)	skin(19)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|central_nervous_system(3)	28						c.e15+1		ubiquitin carboxyl-terminal hydrolase CYLD							94.0	90.0	91.0					16																	50825602		1827	4080	5907	SO:0001630	splice_region_variant	1540	Familial_Cylindromatosis|Multiple_Trichoepithelioma_Familial	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr16:50825602G>T	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2241+1G>T	16.37:g.50825602G>T						CYLD_uc010cbs.1_Splice_Site_p.E744_splice|CYLD_uc002egq.1_Splice_Site_p.E744_splice|CYLD_uc002egr.1_Splice_Site_p.E744_splice	p.E747_splice	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN			15	2656	+		all_cancers(37;0.0156)						O94934|Q7L3N6|Q96EH0|Q9NZX9	Splice_Site	SNP	ENST00000427738.3	37	c.2241_splice	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.142908	0.77888	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	.	.	.	5.42	5.42	0.78866	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.2909	0.94098	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CYLD	49383103	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	9.410000	0.97335	2.557000	0.86248	0.644000	0.83932	.		PASS	0.343	CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		Intron	20	103	20	103	---	---	---	---
SALL1	6299	broad.mit.edu	37	16	51175941	51175941	+	Silent	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr16:51175941G>A	ENST00000251020.4	-	2	225	c.192C>T	c.(190-192)aaC>aaT	p.N64N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR|SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	64					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N64N(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTAGTACAGTTCTTCTTGT	0.478																																					GBM(103;1352 1446 1855 4775 8890)	uc010vgs.1																			1	Substitution - coding silent(1)		lung(1)	skin(5)|ovary(3)	8						c.(190-192)AAC>AAT		sal-like 1 isoform a							82.0	89.0	86.0					16																	51175941		2198	4300	6498	SO:0001819	synonymous_variant	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51175941G>A	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.192C>T	16.37:g.51175941G>A						SALL1_uc010vgr.1_5'UTR|SALL1_uc010cbv.2_Intron	p.N64N	NM_002968	NP_002959	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	223	-		all_cancers(37;0.0322)	64					Q99881|Q9NSC3|Q9P1R0	Silent	SNP	ENST00000251020.4	37	c.192C>T	CCDS10747.1																																																																																				PASS	0.478	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		70	304	70	304	---	---	---	---
OR3A2	4995	broad.mit.edu	37	17	3181486	3181486	+	Silent	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr17:3181486G>T	ENST00000408891.2	-	1	782	c.744C>A	c.(742-744)tcC>tcA	p.S248S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	248					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)	p.S248S(1)		ovary(1)	1						AGCCACACGTGGAGAAGGCCT	0.522																																					GBM(166;478 2018 3875 5042 31983)|Esophageal Squamous(77;407 1232 1405 14297 15272)	uc002fvg.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(742-744)TCC>TCA		olfactory receptor, family 3, subfamily A,							56.0	60.0	59.0					17																	3181486		2203	4300	6503	SO:0001819	synonymous_variant	4995				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3181486G>T	U04713	CCDS42233.1	17p13.3	2012-08-09				ENSG00000221882		"""GPCR / Class A : Olfactory receptors"""	8283	protein-coding gene	gene with protein product						8921386, 10673334	Standard	NM_002551		Approved	OLFRA04, OR228, OR17-228	uc002fvg.3	P47893		ENST00000408891.2:c.744C>A	17.37:g.3181486G>T							p.S248S	NM_002551	NP_002542	P47893	OR3A2_HUMAN			1	783	-			248			Helical; Name=6; (Potential).		Q6IFM3|Q9P1Q3	Silent	SNP	ENST00000408891.2	37	c.744C>A	CCDS42233.1																																																																																				PASS	0.522	OR3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438370.1			17	69	17	69	---	---	---	---
UBB	7314	broad.mit.edu	37	17	16285542	16285542	+	Silent	SNP	G	G	A	rs17052364	byFrequency	TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr17:16285542G>A	ENST00000395837.1	+	2	502	c.321G>A	c.(319-321)caG>caA	p.Q107Q	UBB_ENST00000302182.3_Silent_p.Q107Q|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Silent_p.Q107Q|UBB_ENST00000578649.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	107	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.Q107Q(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CCAAGATCCAGGATAAAGAAG	0.537																																					Melanoma(163;1126 3406 34901)	uc002gpx.2																			1	Substitution - coding silent(1)		lung(1)	skin(3)	3						c.(319-321)CAG>CAA		ubiquitin B precursor							114.0	110.0	112.0					17																	16285542		2203	4300	6503	SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285542G>A		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.321G>A	17.37:g.16285542G>A						UBB_uc010vwe.1_Intron	p.Q107Q	NM_018955	NP_061828	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	459	+			107			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.321G>A	CCDS11177.1																																																																																				PASS	0.537	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		4	174	4	174	---	---	---	---
PPP1R1B	84152	broad.mit.edu	37	17	37790145	37790145	+	Missense_Mutation	SNP	G	G	A	rs139360619		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr17:37790145G>A	ENST00000254079.4	+	5	720	c.251G>A	c.(250-252)cGc>cAc	p.R84H	PPP1R1B_ENST00000394267.2_Missense_Mutation_p.R48H|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.R84H|PPP1R1B_ENST00000394265.1_Missense_Mutation_p.R48H|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.R51H	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	84					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.R84H(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCTGTGCAGCGCATTGCTGAG	0.577																																						uc002hrz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(250-252)CGC>CAC		protein phosphatase 1, regulatory (inhibitor)							97.0	94.0	95.0					17																	37790145		2203	4300	6503	SO:0001583	missense	84152				signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity	g.chr17:37790145G>A	AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.251G>A	17.37:g.37790145G>A	ENSP00000254079:p.Arg84His					PPP1R1B_uc002hsa.2_Missense_Mutation_p.R95H|PPP1R1B_uc010cvx.2_Missense_Mutation_p.R51H|PPP1R1B_uc002hsb.2_Missense_Mutation_p.R48H|PPP1R1B_uc002hsc.2_Missense_Mutation_p.R48H	p.R84H	NM_032192	NP_115568	Q9UD71	PPR1B_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		5	718	+	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		84					Q547V9|Q547W0|Q9H7G1	Missense_Mutation	SNP	ENST00000254079.4	37	c.251G>A	CCDS11339.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.263155	0.80358	.	.	ENSG00000131771	ENST00000254079;ENST00000357165;ENST00000394271;ENST00000394267;ENST00000394265	T;T;T	0.35605	1.3;1.39;1.39	5.58	5.58	0.84498	.	0.076237	0.47852	D	0.000219	T	0.50309	0.1608	L	0.41710	1.295	0.40910	D	0.984229	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.997	T	0.38112	-0.9676	10	0.32370	T	0.25	-9.8934	15.0603	0.71947	0.0:0.0:1.0:0.0	.	84;95;84	B3KVQ9;E7ENN5;Q9UD71	.;.;PPR1B_HUMAN	H	84;84;95;48;48	ENSP00000254079:R84H;ENSP00000377810:R48H;ENSP00000377808:R48H	ENSP00000254079:R84H	R	+	2	0	PPP1R1B	35043671	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.249000	0.65427	2.636000	0.89361	0.561000	0.74099	CGC		PASS	0.577	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2	NM_032192		14	377	14	377	---	---	---	---
CCR10	2826	broad.mit.edu	37	17	40832121	40832121	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr17:40832121C>G	ENST00000332438.4	-	2	558	c.539G>C	c.(538-540)aGc>aCc	p.S180T	CNTNAP1_ENST00000264638.4_5'Flank|CTD-3193K9.4_ENST00000593139.1_RNA|CCR10_ENST00000591765.1_5'UTR	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	180					chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|G-protein coupled receptor activity (GO:0004930)	p.S180T(1)		lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CCCATCCTGGCTGAAGAGCAG	0.716																																						uc002iax.3																			1	Substitution - Missense(1)		lung(1)		0						c.(538-540)AGC>ACC		CC chemokine receptor 10							21.0	18.0	19.0					17																	40832121		2192	4289	6481	SO:0001583	missense	2826					integral to plasma membrane		g.chr17:40832121C>G	AF215981	CCDS11435.1	17q21.1-q21.3	2012-08-08	2004-11-12	2004-11-12	ENSG00000184451	ENSG00000184451		"""GPCR / Class A : Chemokine receptors : C-C motif"""	4474	protein-coding gene	gene with protein product		600240	"""G protein-coupled receptor 2"""	GPR2		7851889	Standard	NM_016602		Approved		uc002iax.4	P46092	OTTHUMG00000132301	ENST00000332438.4:c.539G>C	17.37:g.40832121C>G	ENSP00000332504:p.Ser180Thr					CNTNAP1_uc002iay.2_5'Flank|CNTNAP1_uc010wgs.1_5'Flank	p.S180T	NM_016602	NP_057686	P46092	CCR10_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.14)	2	543	-		Breast(137;0.000153)	180			Extracellular (Potential).		Q4V749|Q6T7X2|Q9NZG2	Missense_Mutation	SNP	ENST00000332438.4	37	c.539G>C	CCDS11435.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.843500	0.51057	.	.	ENSG00000184451	ENST00000332438	T	0.37584	1.19	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.419309	0.20372	N	0.093637	T	0.20981	0.0505	N	0.26130	0.795	0.80722	D	1	P	0.38440	0.631	B	0.37198	0.243	T	0.02837	-1.1104	10	0.11182	T	0.66	.	7.6419	0.28298	0.0:0.8857:0.0:0.1143	.	180	P46092	CCR10_HUMAN	T	180	ENSP00000332504:S180T	ENSP00000332504:S180T	S	-	2	0	CCR10	38085647	0.994000	0.37717	1.000000	0.80357	0.921000	0.55340	2.103000	0.41806	2.103000	0.63969	0.462000	0.41574	AGC		PASS	0.716	CCR10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255406.1	NM_016602		3	19	3	19	---	---	---	---
KAT7	11143	broad.mit.edu	37	17	47904775	47904775	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr17:47904775G>A	ENST00000259021.4	+	15	2027	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K	KAT7_ENST00000509773.1_Missense_Mutation_p.E473K|KAT7_ENST00000435742.2_Missense_Mutation_p.E397K|KAT7_ENST00000424009.2_Missense_Mutation_p.E553K|KAT7_ENST00000510819.1_Missense_Mutation_p.E414K|KAT7_ENST00000454930.2_Missense_Mutation_p.E444K|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000503935.2_Missense_Mutation_p.E427K	NM_007067.4	NP_008998.1	O95251	KAT7_HUMAN	K(lysine) acetyltransferase 7	583	MYST-type HAT.				chromatin organization (GO:0006325)|DNA replication (GO:0006260)|histone H3 acetylation (GO:0043966)|histone H4-K12 acetylation (GO:0043983)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.E583K(1)									CCTGATTGATGAGTGGATAGC	0.443																																						uc002ipm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)|skin(1)	3						c.(1747-1749)GAG>AAG		MYST histone acetyltransferase 2							83.0	73.0	76.0					17																	47904775		2203	4300	6503	SO:0001583	missense	11143				DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:47904775G>A	AF074606	CCDS11554.1, CCDS56035.1, CCDS56036.1, CCDS56037.1, CCDS56038.1	17q21.32	2013-01-10	2011-07-21	2011-07-21	ENSG00000136504	ENSG00000136504	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17016	protein-coding gene	gene with protein product	"""histone acetyltransferase binding to ORC1"""	609880	"""MYST histone acetyltransferase 2"""	MYST2		10438470, 10930412	Standard	NM_001199155		Approved	HBOA, HBO1, ZC2HC7	uc002ipm.3	O95251	OTTHUMG00000161770	ENST00000259021.4:c.1747G>A	17.37:g.47904775G>A	ENSP00000259021:p.Glu583Lys					MYST2_uc010wma.1_Missense_Mutation_p.E444K|MYST2_uc010wmb.1_Missense_Mutation_p.E473K|MYST2_uc010wmc.1_Missense_Mutation_p.E414K|MYST2_uc010wmd.1_Missense_Mutation_p.E427K|MYST2_uc010wme.1_Missense_Mutation_p.E397K|MYST2_uc010wmf.1_Missense_Mutation_p.E248K|MYST2_uc010wmg.1_Missense_Mutation_p.E138K	p.E583K	NM_007067	NP_008998	O95251	MYST2_HUMAN			15	1873	+			583					B3KN74|B4DF85|B4DFB4|B4DFE0|B4DGY4|E7ER15|G5E9K7	Missense_Mutation	SNP	ENST00000259021.4	37	c.1747G>A	CCDS11554.1	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367191	0.61513	.	.	ENSG00000136504	ENST00000259021;ENST00000454930;ENST00000509773;ENST00000510819;ENST00000424009;ENST00000503935;ENST00000435742	.	.	.	5.27	5.27	0.74061	.	0.153542	0.56097	D	0.000021	T	0.56262	0.1973	L	0.48260	1.515	0.80722	D	1	B;B;B;B;B	0.33583	0.092;0.008;0.418;0.322;0.307	B;B;B;B;B	0.25291	0.008;0.004;0.056;0.059;0.019	T	0.61187	-0.7113	9	0.72032	D	0.01	-18.8808	18.6812	0.91547	0.0:0.0:1.0:0.0	.	546;414;473;444;583	B4DGY4;B4DFE0;B4DFB4;E7ER15;O95251	.;.;.;.;KAT7_HUMAN	K	583;444;473;414;553;427;397	.	ENSP00000259021:E583K	E	+	1	0	KAT7	45259774	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.591000	0.98241	2.758000	0.94735	0.561000	0.74099	GAG		PASS	0.443	KAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366032.1	NM_007067		7	61	7	61	---	---	---	---
LUC7L3	51747	broad.mit.edu	37	17	48824020	48824020	+	Silent	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr17:48824020C>T	ENST00000505658.1	+	9	1284	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	LUC7L3_ENST00000393227.2_Silent_p.S365S|LUC7L3_ENST00000544170.1_Silent_p.S289S|LUC7L3_ENST00000240304.1_Silent_p.S365S			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	365	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.S365S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						AGCACAGGAGCAAAAGTCGGG	0.413																																						uc002isr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1093-1095)AGC>AGT		LUC7-like 3							122.0	129.0	127.0					17																	48824020		2203	4300	6503	SO:0001819	synonymous_variant	51747				apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding	g.chr17:48824020C>T		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.1095C>T	17.37:g.48824020C>T						LUC7L3_uc010wmw.1_Silent_p.S289S|LUC7L3_uc002isq.2_Silent_p.S365S|LUC7L3_uc002iss.2_Silent_p.S365S	p.S365S	NM_006107	NP_006098	O95232	LC7L3_HUMAN			9	1212	+			365			Arg/Ser-rich.		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Silent	SNP	ENST00000505658.1	37	c.1095C>T	CCDS11573.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.57|10.57	1.387039|1.387039	0.25031|0.25031	.|.	.|.	ENSG00000108848|ENSG00000108848	ENST00000503728|ENST00000511974;ENST00000513969	.|.	.|.	.|.	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|.	.|.	.|.	.|.	T|.	0.70727|.	0.3257|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.67975|.	-0.5531|.	4|.	.|.	.|.	.|.	-12.4992|-12.4992	13.8473|13.8473	0.63474|0.63474	0.0:0.9281:0.0:0.0719|0.0:0.9281:0.0:0.0719	.|.	.|.	.|.	.|.	V|X	14|29;16	.|.	.|.	A|Q	+|+	2|1	0|0	LUC7L3|LUC7L3	46179019|46179019	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.951000|2.951000	0.49089|0.49089	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GCA|CAA		PASS	0.413	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368205.2	NM_016424		6	120	6	120	---	---	---	---
KIAA0195	9772	broad.mit.edu	37	17	73494306	73494306	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr17:73494306C>A	ENST00000314256.7	+	28	3934	c.3540C>A	c.(3538-3540)atC>atA	p.I1180I	KIAA0195_ENST00000579208.1_Silent_p.I831I|AC100787.1_ENST00000579379.1_RNA|KIAA0195_ENST00000375248.5_Silent_p.I1190I	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1180						integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.I1180I(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCTCACCATCAGCTCCTGCC	0.617																																						uc002jnz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(3538-3540)ATC>ATA		hypothetical protein LOC9772							129.0	99.0	109.0					17																	73494306		2203	4300	6503	SO:0001819	synonymous_variant	9772				ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism	g.chr17:73494306C>A		CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.3540C>A	17.37:g.73494306C>A						KIAA0195_uc010wsa.1_Silent_p.I1190I|KIAA0195_uc010wsb.1_Silent_p.I820I|KIAA0195_uc002job.3_Silent_p.I188I	p.I1180I	NM_014738	NP_055553	Q12767	K0195_HUMAN	all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)		28	3815	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		1180			Helical; (Potential).		O75536|Q86XF1	Silent	SNP	ENST00000314256.7	37	c.3540C>A	CCDS32732.1																																																																																				PASS	0.617	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447303.1	NM_014738		8	169	8	169	---	---	---	---
EPB41L3	23136	broad.mit.edu	37	18	5397278	5397278	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr18:5397278C>T	ENST00000341928.2	-	18	2960	c.2620G>A	c.(2620-2622)Gcg>Acg	p.A874T	EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000540638.2_Missense_Mutation_p.A652T|EPB41L3_ENST00000544123.1_Missense_Mutation_p.A705T|EPB41L3_ENST00000542146.1_Missense_Mutation_p.A179T|EPB41L3_ENST00000427684.2_Missense_Mutation_p.A171T|EPB41L3_ENST00000400111.3_Missense_Mutation_p.A652T|EPB41L3_ENST00000342933.3_Missense_Mutation_p.A874T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	874	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.A874T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGTCTCCCGCCGAGTAAGAA	0.622																																						uc002kmt.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)	5						c.(2620-2622)GCG>ACG		erythrocyte membrane protein band 4.1-like 3							73.0	67.0	69.0					18																	5397278		2203	4300	6503	SO:0001583	missense	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5397278C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.2620G>A	18.37:g.5397278C>T	ENSP00000343158:p.Ala874Thr					EPB41L3_uc010wzh.1_Missense_Mutation_p.A705T|EPB41L3_uc002kmu.1_Missense_Mutation_p.A652T|EPB41L3_uc010dkq.1_Missense_Mutation_p.A543T|EPB41L3_uc002kms.1_Missense_Mutation_p.A109T|EPB41L3_uc010wze.1_Missense_Mutation_p.A179T|EPB41L3_uc010wzf.1_Missense_Mutation_p.A171T|EPB41L3_uc010wzg.1_Missense_Mutation_p.A146T|EPB41L3_uc010dkr.2_Missense_Mutation_p.A266T	p.A874T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN			18	2706	-			874			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Missense_Mutation	SNP	ENST00000341928.2	37	c.2620G>A	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	12.47	1.947960	0.34377	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000544123;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	T;T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07;0.07	5.73	4.85	0.62838	.	1.642060	0.02789	N	0.121766	T	0.78978	0.4369	M	0.72894	2.215	0.23271	N	0.998005	B;D;P;P;P;P;P;P	0.71674	0.342;0.998;0.554;0.507;0.682;0.835;0.615;0.917	B;D;P;B;B;P;B;B	0.81914	0.159;0.995;0.492;0.22;0.129;0.493;0.211;0.293	T	0.62690	-0.6801	10	0.30854	T	0.27	.	16.0889	0.81080	0.1351:0.8649:0.0:0.0	.	705;171;179;266;543;652;874;109	F5GX05;E7EUF8;F5H7W5;B7Z8M8;A8K968;Q9Y2J2-2;Q9Y2J2;B3KT50	.;.;.;.;.;.;E41L3_HUMAN;.	T	874;543;705;543;171;179;874;652	ENSP00000343158:A874T;ENSP00000441174:A705T;ENSP00000392195:A171T;ENSP00000442233:A179T;ENSP00000341138:A874T;ENSP00000382981:A652T	ENSP00000343158:A874T	A	-	1	0	EPB41L3	5387278	0.997000	0.39634	0.247000	0.24249	0.000000	0.00434	5.282000	0.65615	1.399000	0.46721	-0.282000	0.10007	GCG		PASS	0.622	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		32	121	32	121	---	---	---	---
SETBP1	26040	broad.mit.edu	37	18	42532153	42532153	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr18:42532153G>A	ENST00000282030.5	+	4	3144	c.2848G>A	c.(2848-2850)Gac>Aac	p.D950N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	950						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D896N(1)|p.D950N(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AAACCGCGATGACCTCCAGTT	0.507									Schinzel-Giedion syndrome																													uc010dni.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(2)|large_intestine(1)	3						c.(2848-2850)GAC>AAC		SET binding protein 1 isoform a							66.0	65.0	65.0					18																	42532153		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion_syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532153G>A	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.2848G>A	18.37:g.42532153G>A	ENSP00000282030:p.Asp950Asn						p.D950N	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3144	+			950					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.2848G>A	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	G	10.68	1.418812	0.25552	.	.	ENSG00000152217	ENST00000282030	D	0.93488	-3.23	6.17	5.13	0.70059	.	0.104903	0.64402	D	0.000007	D	0.88789	0.6532	L	0.32530	0.975	0.35390	D	0.790671	B	0.12630	0.006	B	0.14578	0.011	D	0.87073	0.2161	10	0.46703	T	0.11	.	12.7716	0.57423	0.137:0.0:0.863:0.0	.	950	Q9Y6X0	SETBP_HUMAN	N	950	ENSP00000282030:D950N	ENSP00000282030:D950N	D	+	1	0	SETBP1	40786151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.328000	0.59253	2.941000	0.99782	0.655000	0.94253	GAC		PASS	0.507	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		36	154	36	154	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54398770	54398770	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr18:54398770C>G	ENST00000254442.3	+	14	2142	c.1931C>G	c.(1930-1932)gCc>gGc	p.A644G	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.A644G	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	644					hematopoietic progenitor cell differentiation (GO:0002244)			p.A644V(1)|p.A644G(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AAAAATATGGCCCATCATAAG	0.443																																						uc002lgk.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1930-1932)GCC>GGC		rabconnectin-3 beta isoform 1							151.0	128.0	136.0					18																	54398770		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54398770C>G	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.1931C>G	18.37:g.54398770C>G	ENSP00000254442:p.Ala644Gly					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.A644G	p.A644G	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	14	2142	+			644					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.1931C>G	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958856	0.92726	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.69175	-0.38;-0.36	5.26	5.26	0.73747	.	0.053364	0.85682	D	0.000000	T	0.71829	0.3386	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.993	D;D	0.72625	0.925;0.978	T	0.71328	-0.4626	10	0.34782	T	0.22	.	18.4669	0.90758	0.0:1.0:0.0:0.0	.	644;644	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	G	644	ENSP00000254442:A644G;ENSP00000350187:A644G	ENSP00000254442:A644G	A	+	2	0	WDR7	52549768	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.568000	0.82369	2.463000	0.83235	0.563000	0.77884	GCC		PASS	0.443	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			28	168	28	168	---	---	---	---
ALPK2	115701	broad.mit.edu	37	18	56191230	56191230	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr18:56191230A>T	ENST00000361673.3	-	7	5779	c.5566T>A	c.(5566-5568)Tat>Aat	p.Y1856N		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1856	Ig-like 2.					nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.Y1217N(1)|p.Y1856N(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCAGTAATAGAGTCCCTGG	0.468																																						uc002lhj.3																			2	Substitution - Missense(2)		lung(2)	ovary(7)|skin(5)|lung(1)|central_nervous_system(1)	14						c.(5566-5568)TAT>AAT		heart alpha-kinase							103.0	96.0	99.0					18																	56191230		2203	4300	6503	SO:0001583	missense	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56191230A>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.5566T>A	18.37:g.56191230A>T	ENSP00000354991:p.Tyr1856Asn						p.Y1856N	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN			7	5780	-			1856			Ig-like 2.		Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	c.5566T>A	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	A	19.18	3.778596	0.70107	.	.	ENSG00000198796	ENST00000361673	T	0.75260	-0.92	5.72	5.72	0.89469	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000004	D	0.87565	0.6209	M	0.86268	2.805	0.53688	D	0.999975	D	0.89917	1.0	D	0.97110	1.0	D	0.89546	0.3796	10	0.87932	D	0	-16.2975	15.6818	0.77376	1.0:0.0:0.0:0.0	.	1856	Q86TB3	ALPK2_HUMAN	N	1856	ENSP00000354991:Y1856N	ENSP00000354991:Y1856N	Y	-	1	0	ALPK2	54342210	1.000000	0.71417	0.832000	0.32986	0.479000	0.33129	7.580000	0.82523	2.174000	0.68829	0.533000	0.62120	TAT		PASS	0.468	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		11	58	11	58	---	---	---	---
THEG	51298	broad.mit.edu	37	19	371313	371313	+	Silent	SNP	A	A	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:371313A>T	ENST00000342640.4	-	6	687	c.645T>A	c.(643-645)ccT>ccA	p.P215P	THEG_ENST00000346878.2_Silent_p.P191P	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	215					cell differentiation (GO:0030154)|chaperone-mediated protein complex assembly (GO:0051131)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)		p.P215P(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGCCAGACAGGAGTCGTCC	0.592																																						uc002lol.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(643-645)CCT>CCA		Theg homolog isoform 1							99.0	105.0	103.0					19																	371313		2203	4300	6503	SO:0001819	synonymous_variant	51298				cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	g.chr19:371313A>T	AF268610	CCDS12025.1, CCDS12026.1	19p13.3	2012-02-24	2012-02-24		ENSG00000105549	ENSG00000105549			13706	protein-coding gene	gene with protein product	"""cancer/testis antigen 56"""	609503	"""Theg homolog (mouse)"""			11173852	Standard	NM_016585		Approved	CT56, THEG1	uc002lol.3	Q9P2T0	OTTHUMG00000165491	ENST00000342640.4:c.645T>A	19.37:g.371313A>T						THEG_uc002lom.2_Silent_p.P191P	p.P215P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	6	684	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	215					A6NMJ8	Silent	SNP	ENST00000342640.4	37	c.645T>A	CCDS12025.1																																																																																				PASS	0.592	THEG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384431.2			50	235	50	235	---	---	---	---
OR2Z1	284383	broad.mit.edu	37	19	8842130	8842130	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:8842130T>C	ENST00000324060.2	+	1	815	c.740T>C	c.(739-741)gTa>gCa	p.V247A		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	247						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V247A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACATCACGGTAGTGGGGCTC	0.567																																						uc010xkg.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(739-741)GTA>GCA		olfactory receptor, family 2, subfamily Z,							148.0	118.0	128.0					19																	8842130		2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8842130T>C	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.740T>C	19.37:g.8842130T>C	ENSP00000316284:p.Val247Ala						p.V247A	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			1	740	+			247			Helical; Name=6; (Potential).		B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.740T>C	CCDS32895.1	.	.	.	.	.	.	.	.	.	.	T	3.029	-0.200041	0.06219	.	.	ENSG00000181733	ENST00000324060	T	0.00237	8.47	4.67	1.4	0.22301	GPCR, rhodopsin-like superfamily (1);	0.219162	0.31909	N	0.006875	T	0.00178	0.0005	L	0.35854	1.095	0.09310	N	1	B	0.29671	0.254	B	0.39771	0.309	T	0.27536	-1.0071	10	0.54805	T	0.06	.	7.9012	0.29736	0.0:0.259:0.0:0.741	.	247	Q8NG97	OR2Z1_HUMAN	A	247	ENSP00000316284:V247A	ENSP00000316284:V247A	V	+	2	0	OR2Z1	8703130	0.368000	0.25031	0.006000	0.13384	0.003000	0.03518	0.563000	0.23547	-0.012000	0.14223	-0.506000	0.04501	GTA		PASS	0.567	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1			24	128	24	128	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9046738	9046738	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:9046738C>A	ENST00000397910.4	-	5	35096	c.34893G>T	c.(34891-34893)gtG>gtT	p.V11631V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11633	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.V11631V(1)|p.V7264V(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CCTGTGAGGTCACTACCCCTG	0.527																																						uc002mkp.2																			2	Substitution - coding silent(2)		lung(2)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(34891-34893)GTG>GTT		mucin 16							151.0	149.0	149.0					19																	9046738		2052	4200	6252	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9046738C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.34893G>T	19.37:g.9046738C>A							p.V11631V	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			5	35097	-			11633			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.34893G>T	CCDS54212.1																																																																																				PASS	0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		31	208	31	208	---	---	---	---
OR7E24	26648	broad.mit.edu	37	19	9362030	9362030	+	Missense_Mutation	SNP	A	A	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:9362030A>C	ENST00000456448.1	+	1	425	c.311A>C	c.(310-312)cAa>cCa	p.Q104P		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	104						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q104P(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTGGACATGCAAACTCACAGC	0.507																																						uc002mlb.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(310-312)CAA>CCA		olfactory receptor, family 7, subfamily E,							66.0	65.0	65.0					19																	9362030		2196	4297	6493	SO:0001583	missense	26648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9362030A>C	Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.311A>C	19.37:g.9362030A>C	ENSP00000387523:p.Gln104Pro						p.Q104P	NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN			1	311	+			104			Extracellular (Potential).		B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	c.311A>C	CCDS45955.1	.	.	.	.	.	.	.	.	.	.	a	8.673	0.903209	0.17760	.	.	ENSG00000237521	ENST00000456448	T	0.00882	5.58	2.35	-0.355	0.12587	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01454	0.0047	M	0.67953	2.075	0.09310	N	1	B	0.23937	0.094	B	0.23716	0.048	T	0.38286	-0.9668	9	0.87932	D	0	.	6.4104	0.21688	0.333:0.0:0.0:0.667	.	104	Q6IFN5	O7E24_HUMAN	P	104	ENSP00000387523:Q104P	ENSP00000387523:Q104P	Q	+	2	0	OR7E24	9223030	0.000000	0.05858	0.003000	0.11579	0.044000	0.14063	0.294000	0.19047	0.145000	0.18977	0.352000	0.21897	CAA		PASS	0.507	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			4	129	4	129	---	---	---	---
KRI1	65095	broad.mit.edu	37	19	10671094	10671094	+	Missense_Mutation	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:10671094C>G	ENST00000312962.6	-	9	731	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	KRI1_ENST00000361821.5_Missense_Mutation_p.E234Q|KRI1_ENST00000537964.1_5'Flank	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	232	Glu-rich.					nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.E238Q(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TCATCCAACTCAGGGTCGTTC	0.542																																						uc002moy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(712-714)GAG>CAG		KRI1 homolog							111.0	92.0	98.0					19																	10671094		2203	4300	6503	SO:0001583	missense	65095							g.chr19:10671094C>G		CCDS12242.1	19p13.2	2008-02-05			ENSG00000129347	ENSG00000129347			25769	protein-coding gene	gene with protein product						12878157	Standard	NM_023008		Approved	FLJ12949	uc002moy.1	Q8N9T8	OTTHUMG00000150343	ENST00000312962.6:c.712G>C	19.37:g.10671094C>G	ENSP00000320917:p.Glu238Gln					KRI1_uc002mow.1_5'UTR|KRI1_uc002mox.1_Missense_Mutation_p.E234Q	p.E238Q	NM_023008	NP_075384	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		9	721	-			238			Glu-rich.		Q2M1R5|Q2M1R7|Q7L5J7|Q96G92|Q9BU50|Q9H6I1|Q9H978	Missense_Mutation	SNP	ENST00000312962.6	37	c.712G>C	CCDS12242.1	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854581	0.32791	.	.	ENSG00000129347	ENST00000312962;ENST00000361821;ENST00000541101	T;T	0.09723	3.1;2.95	5.36	1.27	0.21489	.	0.494226	0.22335	N	0.061404	T	0.07369	0.0186	L	0.45285	1.41	0.19575	N	0.999969	B;B	0.27117	0.098;0.168	B;B	0.17433	0.012;0.018	T	0.28681	-1.0036	10	0.23891	T	0.37	-32.6087	6.0666	0.19866	0.0:0.5047:0.3512:0.1441	.	238;234	Q8N9T8;D3YTE0	KRI1_HUMAN;.	Q	238;234;238	ENSP00000320917:E238Q;ENSP00000355366:E234Q	ENSP00000320917:E238Q	E	-	1	0	KRI1	10532094	0.007000	0.16637	1.000000	0.80357	0.890000	0.51754	-0.074000	0.11450	1.223000	0.43536	0.563000	0.77884	GAG		PASS	0.542	KRI1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317705.1	NM_023008		6	151	6	151	---	---	---	---
GCDH	2639	broad.mit.edu	37	19	13006857	13006857	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:13006857G>C	ENST00000222214.5	+	7	768	c.557G>C	c.(556-558)aGt>aCt	p.S186T	GCDH_ENST00000591470.1_Missense_Mutation_p.S186T|GCDH_ENST00000422947.2_Missense_Mutation_p.S142T|GCDH_ENST00000457854.1_Missense_Mutation_p.S186T			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	186					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)	p.S186T(2)		autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	AACAGCGGAAGTGACCCCAGC	0.592																																					GBM(123;875 1636 7726 16444 26754)	uc002mvq.2																			2	Substitution - Missense(2)		lung(2)		0						c.(556-558)AGT>ACT		glutaryl-Coenzyme A dehydrogenase isoform a							110.0	106.0	107.0					19																	13006857		2203	4300	6503	SO:0001583	missense	2639				lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding	g.chr19:13006857G>C	AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.557G>C	19.37:g.13006857G>C	ENSP00000222214:p.Ser186Thr					GCDH_uc010xms.1_Missense_Mutation_p.S153T|GCDH_uc002mvp.2_Missense_Mutation_p.S186T|GCDH_uc010xmt.1_Missense_Mutation_p.V32L|GCDH_uc010xmu.1_Missense_Mutation_p.S142T	p.S186T	NM_000159	NP_000150	Q92947	GCDH_HUMAN			7	634	+			186			FAD.	Substrate; via carbonyl oxygen.	A8K2Z2|O14719	Missense_Mutation	SNP	ENST00000222214.5	37	c.557G>C	CCDS12286.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449357	0.84101	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.99722	-6.53;-6.53;-6.53	5.2	5.2	0.72013	Acyl-CoA dehydrogenase/oxidase (1);Acyl-CoA dehydrogenase, conserved site (1);Acyl-CoA oxidase/dehydrogenase, central domain (2);	0.000000	0.85682	D	0.000000	D	0.99661	0.9874	M	0.81179	2.53	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.995	D;D;D;D	0.97110	1.0;1.0;0.998;0.995	D	0.97693	1.0180	10	0.87932	D	0	.	16.6008	0.84815	0.0:0.0:1.0:0.0	.	142;153;186;186	B4DK85;B4DQF2;Q92947;Q92947-2	.;.;GCDH_HUMAN;.	T	186;186;153;142	ENSP00000394872:S186T;ENSP00000222214:S186T;ENSP00000394821:S142T	ENSP00000222214:S186T	S	+	2	0	GCDH	12867857	1.000000	0.71417	1.000000	0.80357	0.761000	0.43186	9.298000	0.96132	2.593000	0.87608	0.655000	0.94253	AGT		PASS	0.592	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451897.1			20	226	20	226	---	---	---	---
ZNF100	163227	broad.mit.edu	37	19	21910571	21910571	+	Silent	SNP	T	T	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:21910571T>A	ENST00000358296.6	-	5	741	c.543A>T	c.(541-543)ccA>ccT	p.P181P	ZNF100_ENST00000305570.6_Silent_p.P117P	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	181					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P181P(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						CTTTTGCAGATGGATCACATT	0.303																																						uc002nqi.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(541-543)CCA>CCT		zinc finger protein 100							140.0	142.0	141.0					19																	21910571		2057	4224	6281	SO:0001819	synonymous_variant	163227				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21910571T>A	BC035579	CCDS42538.1	19p13.1	2013-01-08	2003-12-19		ENSG00000197020	ENSG00000197020		"""Zinc fingers, C2H2-type"", ""-"""	12880	protein-coding gene	gene with protein product		603982	"""zinc finger protein 100 (Y1)"""			12477932	Standard	NM_173531		Approved		uc002nqi.3	Q8IYN0		ENST00000358296.6:c.543A>T	19.37:g.21910571T>A						ZNF100_uc002nqh.2_Silent_p.P117P	p.P181P	NM_173531	NP_775802	Q8IYN0	ZN100_HUMAN			5	742	-			181			C2H2-type 1; degenerate.		Q7M4M0	Silent	SNP	ENST00000358296.6	37	c.543A>T	CCDS42538.1																																																																																				PASS	0.303	ZNF100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464087.1	NM_173531		38	179	38	179	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36549714	36549714	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:36549714C>A	ENST00000270301.7	+	2	210	c.210C>A	c.(208-210)gcC>gcA	p.A70A	WDR62_ENST00000401500.2_Silent_p.A70A|WDR62_ENST00000388999.3_Silent_p.A70A|WDR62_ENST00000378860.4_3'UTR			O43379	WDR62_HUMAN	WD repeat domain 62	70					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.A70A(1)		cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GCATCACAGCCCAGAACAGCA	0.587																																						uc002odc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(208-210)GCC>GCA		WD repeat domain 62 isoform 2							79.0	68.0	72.0					19																	36549714		2203	4300	6503	SO:0001819	synonymous_variant	284403				cerebral cortex development	nucleus		g.chr19:36549714C>A	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.210C>A	19.37:g.36549714C>A						WDR62_uc002odd.2_Silent_p.A70A|WDR62_uc010eer.2_Silent_p.A70A|WDR62_uc002odb.2_Silent_p.A70A	p.A70A	NM_173636	NP_775907	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		2	301	+	Esophageal squamous(110;0.162)		70					Q63HP9|Q659D7|Q8NBF7|Q96AD9	Silent	SNP	ENST00000270301.7	37	c.210C>A	CCDS33001.1																																																																																				PASS	0.587	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		4	70	4	70	---	---	---	---
SIGLEC9	27180	broad.mit.edu	37	19	51628484	51628484	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:51628484G>C	ENST00000250360.3	+	1	320	c.253G>C	c.(253-255)Gag>Cag	p.E85Q	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.E85Q	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	85	Ig-like V-type.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.E85Q(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGCAGTGTGGGAGGAGACTCG	0.567																																						uc002pvu.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(253-255)GAG>CAG		sialic acid binding Ig-like lectin 9 precursor							107.0	96.0	100.0					19																	51628484		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51628484G>C	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.253G>C	19.37:g.51628484G>C	ENSP00000250360:p.Glu85Gln					SIGLEC9_uc010yct.1_Missense_Mutation_p.E85Q	p.E85Q	NM_014441	NP_055256	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	1	320	+		all_neural(266;0.0529)	85			Extracellular (Potential).|Ig-like V-type.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.253G>C	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	8.924	0.961737	0.18583	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.67865	-0.29;-0.29	2.75	-3.37	0.04898	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.622923	0.13145	N	0.410370	T	0.61850	0.2380	M	0.78049	2.395	0.09310	N	1	B	0.31548	0.328	B	0.38562	0.276	T	0.56595	-0.7953	10	0.36615	T	0.2	.	3.5121	0.07712	0.4581:0.207:0.3349:0.0	.	85	Q9Y336	SIGL9_HUMAN	Q	85	ENSP00000413861:E85Q;ENSP00000250360:E85Q	ENSP00000250360:E85Q	E	+	1	0	SIGLEC9	56320296	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-1.214000	0.02988	-0.472000	0.06881	0.411000	0.27672	GAG		PASS	0.567	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		20	189	20	189	---	---	---	---
SIGLEC14	100049587	broad.mit.edu	37	19	52148782	52148782	+	Splice_Site	SNP	A	A	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:52148782A>G	ENST00000360844.6	-	4	743	c.702T>C	c.(700-702)taT>taC	p.Y234Y	SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000534261.2_5'UTR|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	234					cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.Y234Y(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TCTGTGGAGCATCTGGGATAG	0.567																																						uc002pxf.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(700-702)TAT>TAC		sialic acid binding Ig-like lectin 14 precursor							136.0	141.0	139.0					19																	52148782		1878	4081	5959	SO:0001630	splice_region_variant	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52148782A>G	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.701-1T>C	19.37:g.52148782A>G							p.Y234Y	NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	4	822	-		all_neural(266;0.0299)	234			Extracellular (Potential).		Q6UXG0	Silent	SNP	ENST00000360844.6	37	c.702T>C	CCDS42604.1																																																																																				PASS	0.567	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612	Silent	10	180	10	180	---	---	---	---
ZNF649	65251	broad.mit.edu	37	19	52394814	52394814	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:52394814T>C	ENST00000354957.3	-	5	859	c.575A>G	c.(574-576)cAg>cGg	p.Q192R	ZNF649_ENST00000600738.1_Missense_Mutation_p.Q192R|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	192					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q192R(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTCAGTGAGCTGAGACTTCTT	0.448																																						uc002pxy.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(574-576)CAG>CGG		zinc finger protein 649							179.0	167.0	171.0					19																	52394814		2203	4300	6503	SO:0001583	missense	65251				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52394814T>C	BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.575A>G	19.37:g.52394814T>C	ENSP00000347043:p.Gln192Arg					ZNF577_uc010ydf.1_5'Flank	p.Q192R	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)	5	843	-		all_neural(266;0.0602)	192			C2H2-type 1.		A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	ENST00000354957.3	37	c.575A>G	CCDS12843.1	.	.	.	.	.	.	.	.	.	.	T	6.676	0.493280	0.12702	.	.	ENSG00000198093	ENST00000354957	T	0.15017	2.46	2.79	-4.93	0.03066	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06645	0.0170	N	0.12887	0.27	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.41502	-0.9505	9	0.15066	T	0.55	.	5.4994	0.16821	0.1318:0.3575:0.0:0.5107	.	192	Q9BS31	ZN649_HUMAN	R	192	ENSP00000347043:Q192R	ENSP00000347043:Q192R	Q	-	2	0	ZNF649	57086626	0.000000	0.05858	0.294000	0.24946	0.735000	0.41995	-4.678000	0.00199	-1.118000	0.02961	0.332000	0.21555	CAG		PASS	0.448	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461097.1	NM_023074		4	510	4	510	---	---	---	---
USP29	57663	broad.mit.edu	37	19	57640252	57640252	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr19:57640252G>T	ENST00000254181.4	+	4	663	c.209G>T	c.(208-210)aGt>aTt	p.S70I	USP29_ENST00000598197.1_Missense_Mutation_p.S70I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	70					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.S70I(1)		breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAGACAAAGTCACCTGCGT	0.338																																						uc002qny.2																			1	Substitution - Missense(1)		lung(1)	lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(208-210)AGT>ATT		ubiquitin specific peptidase 29							54.0	54.0	54.0					19																	57640252		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640252G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.209G>T	19.37:g.57640252G>T	ENSP00000254181:p.Ser70Ile						p.S70I	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	565	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	70						Missense_Mutation	SNP	ENST00000254181.4	37	c.209G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	12.21	1.869742	0.33069	.	.	ENSG00000131864	ENST00000254181	T	0.51574	0.7	2.79	-1.85	0.07784	.	1.212640	0.06375	N	0.714195	T	0.41858	0.1177	L	0.46157	1.445	0.09310	N	1	D	0.55605	0.972	P	0.47528	0.549	T	0.36065	-0.9763	10	0.66056	D	0.02	-1.0712	2.4262	0.04460	0.4728:0.0:0.2959:0.2313	.	70	Q9HBJ7	UBP29_HUMAN	I	70	ENSP00000254181:S70I	ENSP00000254181:S70I	S	+	2	0	USP29	62332064	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.019000	0.12546	-0.369000	0.08028	0.591000	0.81541	AGT		PASS	0.338	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			4	97	4	97	---	---	---	---
SLC13A3	64849	broad.mit.edu	37	20	45192146	45192146	+	Silent	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr20:45192146G>C	ENST00000279027.4	-	12	1557	c.1539C>G	c.(1537-1539)ggC>ggG	p.G513G	SLC13A3_ENST00000472148.1_Silent_p.G431G|SLC13A3_ENST00000413164.2_Silent_p.G463G|SLC13A3_ENST00000435032.1_Silent_p.G98G|SLC13A3_ENST00000396360.1_Silent_p.G431G|SLC13A3_ENST00000495082.1_Silent_p.G466G|SLC13A3_ENST00000290317.5_Silent_p.G466G	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	513					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)	p.G513G(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	AGCCGACTGTGCCCGGAATCA	0.607																																						uc002xsf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1537-1539)GGC>GGG		solute carrier family 13 member 3 isoform a	Succinic acid(DB00139)						47.0	41.0	43.0					20																	45192146		2203	4300	6503	SO:0001819	synonymous_variant	64849					integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity	g.chr20:45192146G>C	AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1539C>G	20.37:g.45192146G>C						SLC13A3_uc010ghn.1_Silent_p.G482G|SLC13A3_uc010zxw.1_Silent_p.G463G|SLC13A3_uc002xsg.1_Silent_p.G466G|SLC13A3_uc010gho.1_Silent_p.G431G|SLC13A3_uc010zxx.1_Silent_p.G415G|SLC13A3_uc002xse.1_Silent_p.G4G|SLC13A3_uc010ghm.1_Silent_p.G100G|SLC13A3_uc010zxv.1_Silent_p.G98G	p.G513G	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN			12	1577	-		Myeloproliferative disorder(115;0.0122)	513			Helical; (Potential).		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Silent	SNP	ENST00000279027.4	37	c.1539C>G	CCDS13400.1																																																																																				PASS	0.607	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080329.2			3	45	3	45	---	---	---	---
ZBP1	81030	broad.mit.edu	37	20	56190586	56190586	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr20:56190586G>C	ENST00000371173.3	-	3	487	c.310C>G	c.(310-312)Cag>Gag	p.Q104E	ZBP1_ENST00000395822.3_Missense_Mutation_p.Q29E|ZBP1_ENST00000343535.4_Missense_Mutation_p.Q104E|ZBP1_ENST00000340462.4_Intron|ZBP1_ENST00000538947.1_5'UTR|ZBP1_ENST00000541799.1_Missense_Mutation_p.Q104E	NM_001160417.1|NM_030776.2	NP_001153889.1|NP_110403.2	Q9H171	ZBP1_HUMAN	Z-DNA binding protein 1	104					innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|left-handed Z-DNA binding (GO:0003692)|RNA binding (GO:0003723)	p.Q104E(1)		large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			TGGCTGAACTGAGGGCCAGGG	0.582																																						uc002xyo.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(310-312)CAG>GAG		Z-DNA binding protein 1 isoform a							119.0	104.0	109.0					20																	56190586		2203	4300	6503	SO:0001583	missense	81030					cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding	g.chr20:56190586G>C	AJ300575	CCDS13461.1, CCDS54477.1, CCDS54478.1	20q13.31	2009-08-21	2002-07-25	2002-07-26	ENSG00000124256	ENSG00000124256			16176	protein-coding gene	gene with protein product	"""DNA-dependent activator of IRFs"""	606750	"""chromosome 20 open reading frame 183"""	C20orf183		11842111	Standard	NM_030776		Approved	dJ718J7.3, DLM1, DLM-1, DAI	uc002xyo.3	Q9H171	OTTHUMG00000032824	ENST00000371173.3:c.310C>G	20.37:g.56190586G>C	ENSP00000360215:p.Gln104Glu					ZBP1_uc010gjm.2_Missense_Mutation_p.Q104E|ZBP1_uc002xyp.2_Missense_Mutation_p.Q29E|ZBP1_uc010zzn.1_Missense_Mutation_p.Q104E	p.Q104E	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)		3	591	-	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		104			DRADA 2.		A2A2F7|B3KVA1|F5GYT1|Q5JY39|Q9BYW4	Missense_Mutation	SNP	ENST00000371173.3	37	c.310C>G	CCDS13461.1	.	.	.	.	.	.	.	.	.	.	G	9.462	1.093444	0.20471	.	.	ENSG00000124256	ENST00000371173;ENST00000395822;ENST00000357677;ENST00000343535;ENST00000541799	T;T;T;T	0.12465	2.96;2.68;2.94;2.68	3.46	0.302	0.15786	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.975669	0.08333	N	0.961942	T	0.09905	0.0243	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.24963	0.1;0.115;0.115;0.115	B;B;B;B	0.23574	0.021;0.031;0.047;0.031	T	0.40136	-0.9579	10	0.25751	T	0.34	-1.3135	11.2367	0.48944	0.0:0.4623:0.5377:0.0	.	104;104;29;104	F5GYT1;A2RRL9;A2A2F7;Q9H171	.;.;.;ZBP1_HUMAN	E	104;29;104;104;104	ENSP00000360215:Q104E;ENSP00000379167:Q29E;ENSP00000340584:Q104E;ENSP00000440552:Q104E	ENSP00000340584:Q104E	Q	-	1	0	ZBP1	55623992	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.080000	0.11339	0.108000	0.17862	-0.176000	0.13171	CAG		PASS	0.582	ZBP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079849.1	NM_030776		31	135	31	135	---	---	---	---
CDH4	1002	broad.mit.edu	37	20	60419830	60419830	+	Missense_Mutation	SNP	G	G	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr20:60419830G>T	ENST00000360469.5	+	5	771	c.683G>T	c.(682-684)cGg>cTg	p.R228L	CDH4_ENST00000543233.1_Missense_Mutation_p.R154L	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	228	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R228L(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATGTCCGGCCGGATGTACGTC	0.632																																						uc002ybn.1																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|skin(1)	6						c.(682-684)CGG>CTG		cadherin 4, type 1 preproprotein							73.0	62.0	65.0					20																	60419830		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60419830G>T	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.683G>T	20.37:g.60419830G>T	ENSP00000353656:p.Arg228Leu					CDH4_uc002ybp.1_Missense_Mutation_p.R154L	p.R228L	NM_001794	NP_001785	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		5	697	+			228			Cadherin 1.|Extracellular (Potential).		B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.683G>T	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	9.721	1.159790	0.21454	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.51325	0.71;0.71	3.68	3.68	0.42216	Cadherin (5);Cadherin-like (1);	0.362029	0.26983	N	0.021517	T	0.43299	0.1241	N	0.12920	0.275	0.18873	N	0.999983	P	0.51057	0.941	P	0.53912	0.737	T	0.37056	-0.9722	9	.	.	.	.	15.7299	0.77792	0.0:0.0:1.0:0.0	.	228	P55283	CADH4_HUMAN	L	228;136;154	ENSP00000353656:R228L;ENSP00000443301:R154L	.	R	+	2	0	CDH4	59853225	0.943000	0.32029	0.935000	0.37517	0.593000	0.36681	4.797000	0.62503	1.753000	0.51906	0.313000	0.20887	CGG		PASS	0.632	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		18	60	18	60	---	---	---	---
NTSR1	4923	broad.mit.edu	37	20	61386218	61386218	+	Missense_Mutation	SNP	G	G	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr20:61386218G>A	ENST00000370501.3	+	2	1267	c.896G>A	c.(895-897)cGg>cAg	p.R299Q		NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	299					adult locomotory behavior (GO:0008344)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.R299Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CAGGCCCTGCGGCACGGCGTG	0.697																																					GBM(37;400 780 6403 19663 35669)	uc002ydf.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|lung(1)|central_nervous_system(1)	4						c.(895-897)CGG>CAG		neurotensin receptor 1							47.0	37.0	41.0					20																	61386218		2200	4295	6495	SO:0001583	missense	4923					endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	g.chr20:61386218G>A		CCDS13502.1	20q13	2012-08-08			ENSG00000101188	ENSG00000101188		"""GPCR / Class A : Neurotensin receptors"""	8039	protein-coding gene	gene with protein product		162651				8075503	Standard	NM_002531		Approved	NTR	uc002ydf.3	P30989	OTTHUMG00000032932	ENST00000370501.3:c.896G>A	20.37:g.61386218G>A	ENSP00000359532:p.Arg299Gln						p.R299Q	NM_002531	NP_002522	P30989	NTR1_HUMAN	BRCA - Breast invasive adenocarcinoma(19;3.63e-06)		2	1267	+	Breast(26;3.65e-08)		299			Cytoplasmic (Potential).		Q9H4H1|Q9H4T5	Missense_Mutation	SNP	ENST00000370501.3	37	c.896G>A	CCDS13502.1	.	.	.	.	.	.	.	.	.	.	g	10.32	1.316635	0.23908	.	.	ENSG00000101188	ENST00000370501	T	0.72835	-0.69	4.01	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.906801	0.09375	N	0.810786	T	0.42921	0.1224	N	0.04655	-0.195	0.37370	D	0.911582	B	0.24576	0.106	B	0.19946	0.027	T	0.51671	-0.8676	10	0.26408	T	0.33	-30.2922	3.2196	0.06711	0.4768:0.0:0.5232:0.0	.	299	P30989	NTR1_HUMAN	Q	299	ENSP00000359532:R299Q	ENSP00000359532:R299Q	R	+	2	0	NTSR1	60856663	1.000000	0.71417	0.964000	0.40570	0.275000	0.26752	3.965000	0.56788	1.940000	0.56252	0.306000	0.20318	CGG		PASS	0.697	NTSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080061.1			7	25	7	25	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11097586	11097586	+	RNA	SNP	C	C	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr21:11097586C>G	ENST00000470054.1	-	0	283							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		cagctcaccacaggggactcc	0.532																																						uc002yit.1																			0					0						c.(76-78)GTG>CTG		B melanoma antigen family, member 2 precursor							63.0	82.0	75.0					21																	11097586		1423	2577	4000			85319							g.chr21:11097586C>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11097586C>G						BAGE_uc002yix.2_RNA	p.V26L	NM_182482	NP_872288			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	2	284	-								A8K925|Q08ER0	Missense_Mutation	SNP	ENST00000470054.1	37	c.76G>C																																																																																					PASS	0.532	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	106	6	106	---	---	---	---
TRPM2	7226	broad.mit.edu	37	21	45821654	45821654	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr21:45821654C>A	ENST00000397928.1	+	16	2857	c.2412C>A	c.(2410-2412)ctC>ctA	p.L804L	TRPM2_ENST00000300482.5_Silent_p.L804L|TRPM2_ENST00000397932.2_Silent_p.L804L|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.L784L	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	804					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.L804L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGAACATCCTCTCCTACTTCG	0.642																																						uc002zet.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2410-2412)CTC>CTA		transient receptor potential cation channel,							349.0	270.0	297.0					21																	45821654		2203	4300	6503	SO:0001819	synonymous_variant	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45821654C>A	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.2412C>A	21.37:g.45821654C>A						TRPM2_uc002zeu.1_Silent_p.L804L|TRPM2_uc002zew.1_Silent_p.L804L|TRPM2_uc010gpt.1_Silent_p.L804L|TRPM2_uc002zex.1_Silent_p.L590L|TRPM2_uc002zey.1_Silent_p.L317L	p.L804L	NM_003307	NP_003298	O94759	TRPM2_HUMAN			17	2625	+			804			Helical; (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Silent	SNP	ENST00000397928.1	37	c.2412C>A	CCDS13710.1																																																																																				PASS	0.642	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		52	737	52	737	---	---	---	---
CECR1	51816	broad.mit.edu	37	22	17690370	17690370	+	Silent	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr22:17690370G>C	ENST00000399839.1	-	2	468	c.198C>G	c.(196-198)ctC>ctG	p.L66L	CECR1_ENST00000399837.2_Silent_p.L66L|CECR1_ENST00000262607.3_Silent_p.L66L|CECR1_ENST00000449907.2_Silent_p.L24L	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	66	Dimerization.				adenosine catabolic process (GO:0006154)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|multicellular organismal development (GO:0007275)	extracellular space (GO:0005615)	adenosine deaminase activity (GO:0004000)|adenosine receptor binding (GO:0031685)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|zinc ion binding (GO:0008270)	p.L66L(1)		endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAGCGATTTTGAGCGTCATGA	0.532																																						uc002zmk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(196-198)CTC>CTG		cat eye syndrome critical region protein 1							60.0	56.0	57.0					22																	17690370		2203	4300	6503	SO:0001819	synonymous_variant	51816				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding	g.chr22:17690370G>C	AF190746	CCDS13742.1, CCDS13743.1, CCDS63395.1, CCDS74809.1	22q11.2	2008-02-22			ENSG00000093072	ENSG00000093072			1839	protein-coding gene	gene with protein product		607575		IDGFL		10756095	Standard	NM_001282225		Approved	ADGF	uc002zmk.1	Q9NZK5	OTTHUMG00000030726	ENST00000399839.1:c.198C>G	22.37:g.17690370G>C						CECR1_uc010gqu.1_Silent_p.L66L|CECR1_uc011agi.1_Silent_p.L24L|CECR1_uc011agj.1_Silent_p.L24L	p.L66L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN			1	410	-		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)	66			Dimerization.		A8K9H4|Q6ICF1|Q86UB6|Q8NCJ2|Q96K41	Silent	SNP	ENST00000399839.1	37	c.198C>G	CCDS13742.1																																																																																				PASS	0.532	CECR1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316079.1			18	108	18	108	---	---	---	---
MIEF1	54471	broad.mit.edu	37	22	39908337	39908337	+	Silent	SNP	T	T	G			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr22:39908337T>G	ENST00000325301.2	+	5	847	c.423T>G	c.(421-423)acT>acG	p.T141T	MIEF1_ENST00000402881.1_Silent_p.T141T|MIEF1_ENST00000404569.1_Silent_p.T141T	NM_019008.4	NP_061881.2	Q9NQG6	MID51_HUMAN	mitochondrial elongation factor 1	141	Dimerization.				mitochondrial fission (GO:0000266)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|GDP binding (GO:0019003)|identical protein binding (GO:0042802)	p.T141T(1)									AACTTCTTACTTACTACCGGA	0.612																																						uc003axx.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(421-423)ACT>ACG		hypothetical protein LOC54471							44.0	46.0	45.0					22																	39908337		2203	4300	6503	SO:0001819	synonymous_variant	54471					integral to membrane|mitochondrion		g.chr22:39908337T>G	AL365515	CCDS13995.1	22q13.1	2013-09-23	2013-09-23	2013-09-23	ENSG00000100335	ENSG00000100335			25979	protein-coding gene	gene with protein product		615497	"""Smith-Magenis syndrome chromosome region, candidate 7-like"""	SMCR7L		21508961, 21701560	Standard	NM_019008		Approved	FLJ20232, MiD51	uc003axx.3	Q9NQG6	OTTHUMG00000151105	ENST00000325301.2:c.423T>G	22.37:g.39908337T>G						SMCR7L_uc003axw.2_Silent_p.T141T|SMCR7L_uc010gxz.1_5'UTR|SMCR7L_uc003axy.2_5'UTR	p.T141T	NM_019008	NP_061881	Q9NQG6	SMC7L_HUMAN			5	921	+	Melanoma(58;0.04)		141					Q7L890|Q9BUI3	Silent	SNP	ENST00000325301.2	37	c.423T>G	CCDS13995.1																																																																																				PASS	0.612	MIEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321325.1	NM_019008		43	78	43	78	---	---	---	---
ST13	6767	broad.mit.edu	37	22	41222545	41222545	+	Silent	SNP	C	C	A	rs12373984		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr22:41222545C>A	ENST00000216218.3	-	12	1588	c.1107G>T	c.(1105-1107)gcG>gcT	p.A369A		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	369					chaperone cofactor-dependent protein refolding (GO:0070389)|negative regulation of protein refolding (GO:0061084)|protein folding (GO:0006457)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	dATP binding (GO:0032564)|protein binding, bridging (GO:0030674)	p.A369A(1)		cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						AAGGACATTACGCTTGACCTC	0.413																																						uc003aze.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1105-1107)GCG>GCT		heat shock 70kD protein binding protein							123.0	128.0	126.0					22																	41222545		2202	4299	6501	SO:0001819	synonymous_variant	6767						protein binding, bridging	g.chr22:41222545C>A		CCDS14006.1	22q13.2	2013-01-10	2001-11-29		ENSG00000100380	ENSG00000100380		"""Tetratricopeptide (TTC) repeat domain containing"""	11343	protein-coding gene	gene with protein product	"""progesterone receptor-associated p48 protein"""	606796	"""suppression of tumorigenicity 13 (colon carcinoma) (Hsp70-interacting protein)"""			9925927, 8721986	Standard	NM_003932		Approved	SNC6, HSPABP1, HIP, P48, FAM10A1	uc003aze.3	P50502	OTTHUMG00000151201	ENST00000216218.3:c.1107G>T	22.37:g.41222545C>A						ST13_uc011aow.1_Silent_p.A359A	p.A369A	NM_003932	NP_003923	P50502	F10A1_HUMAN			12	1250	-			369					O14999|Q2TU77	Silent	SNP	ENST00000216218.3	37	c.1107G>T	CCDS14006.1																																																																																				PASS	0.413	ST13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321759.1	NM_003932		156	469	156	469	---	---	---	---
ARHGAP8	23779	broad.mit.edu	37	22	45258351	45258351	+	Missense_Mutation	SNP	C	C	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr22:45258351C>T	ENST00000389774.2	+	13	1412	c.1271C>T	c.(1270-1272)gCa>gTa	p.A424V	PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.A524V|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.A515V|ARHGAP8_ENST00000336963.4_3'UTR|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.A603V|PRR5-ARHGAP8_ENST00000352766.7_Missense_Mutation_p.A603V|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.A393V	NM_001017526.1	NP_001017526.1	P85298	RHG08_HUMAN	Rho GTPase activating protein 8	424					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.A424V(1)|p.A429V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7)	29		all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0204)		CACGGCCTGGCACCATGGGAA	0.617																																						uc003bfd.2																			2	Substitution - Missense(2)		lung(2)	skin(2)	2						c.(1807-1809)GCA>GTA		Rho GTPase activating protein 8 isoform 2							50.0	49.0	49.0					22																	45258351		2203	4300	6503	SO:0001583	missense	553158							g.chr22:45258351C>T	AF177331	CCDS14060.2, CCDS33664.1, CCDS56233.1	22q13.3	2010-05-11			ENSG00000241484	ENSG00000241484		"""Rho GTPase activating proteins"""	677	protein-coding gene	gene with protein product		609405				10591208	Standard	NM_001198726		Approved	FLJ20185, BPGAP1		P85298	OTTHUMG00000030234	ENST00000389774.2:c.1271C>T	22.37:g.45258351C>T	ENSP00000374424:p.Ala424Val					PRR5-ARHGAP8_uc003bfc.2_Missense_Mutation_p.A524V|PRR5-ARHGAP8_uc011aqi.1_Missense_Mutation_p.A515V|PRR5-ARHGAP8_uc011aqj.1_Missense_Mutation_p.A446V|ARHGAP8_uc010gzv.2_3'UTR|ARHGAP8_uc003bfj.2_Missense_Mutation_p.A424V|ARHGAP8_uc003bfk.2_Missense_Mutation_p.A393V|ARHGAP8_uc003bfl.2_RNA	p.A603V	NM_181335	NP_851852					17	2080	+								A6ZJ79|A6ZJ80|O75983|O95695|Q96RW1|Q96RW2|Q9HA49|Q9HC46|Q9NSG0|Q9NVX8|Q9NXL1|Q9UH20	Missense_Mutation	SNP	ENST00000389774.2	37	c.1808C>T	CCDS33664.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.14|12.14	1.848854|1.848854	0.32699|0.32699	.|.	.|.	ENSG00000248405;ENSG00000248405;ENSG00000241484;ENSG00000241484;ENSG00000241484;ENSG00000241484|ENSG00000248405	ENST00000361473;ENST00000352766;ENST00000517296;ENST00000389773;ENST00000389774;ENST00000356099|ENST00000515632	T;T;T;T;T;T|.	0.18016|.	2.29;2.25;2.25;2.29;2.24;2.24|.	3.13|3.13	0.967|0.967	0.19674|0.19674	.|.	.|.	.|.	.|.	.|.	T|T	0.22360|0.22360	0.0539|0.0539	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.28470|.	0.012;0.213;0.031;0.003;0.009|.	B;B;B;B;B|.	0.18871|.	0.004;0.023;0.004;0.001;0.002|.	T|T	0.24835|0.24835	-1.0149|-1.0149	9|5	0.44086|.	T|.	0.13|.	.|.	4.9981|4.9981	0.14249|0.14249	0.0:0.6976:0.0:0.3024|0.0:0.6976:0.0:0.3024	.|.	446;429;424;603;524|.	B7ZMA4;A2RU51;P85298;B1AHC4;B1AHC3|.	.;.;RHG08_HUMAN;.;.|.	V|Y	524;603;603;515;424;393|464	ENSP00000354732:A524V;ENSP00000262731:A603V;ENSP00000429240:A603V;ENSP00000374423:A515V;ENSP00000374424:A424V;ENSP00000348407:A393V|.	ENSP00000348407:A393V|.	A|H	+|+	2|1	0|0	PRR5-ARHGAP8;ARHGAP8|PRR5-ARHGAP8	43637015|43637015	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.003000|0.003000	0.03518|0.03518	0.237000|0.237000	0.17985|0.17985	0.324000|0.324000	0.23333|0.23333	0.655000|0.655000	0.94253|0.94253	GCA|CAC		PASS	0.617	ARHGAP8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000075088.4	NM_017701		8	135	8	135	---	---	---	---
ARHGAP6	395	broad.mit.edu	37	X	11204358	11204358	+	Missense_Mutation	SNP	T	T	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chrX:11204358T>C	ENST00000337414.4	-	5	2143	c.1271A>G	c.(1270-1272)cAt>cGt	p.H424R	ARHGAP6_ENST00000534860.1_Missense_Mutation_p.H249R|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.H221R|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.H424R|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.H456R|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.H221R|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.H233R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	424	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)	p.H424R(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTACTTACCATGTTTTTCTAG	0.393																																						uc004cup.1																			1	Substitution - Missense(1)		lung(1)	urinary_tract(1)|lung(1)	2						c.(1270-1272)CAT>CGT		Rho GTPase activating protein 6 isoform 1							120.0	108.0	112.0					X																	11204358		2203	4300	6503	SO:0001583	missense	395				actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity	g.chrX:11204358T>C	AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.1271A>G	X.37:g.11204358T>C	ENSP00000338967:p.His424Arg					ARHGAP6_uc004cuo.1_RNA|ARHGAP6_uc004cur.1_Missense_Mutation_p.H424R|ARHGAP6_uc004cum.1_Missense_Mutation_p.H221R|ARHGAP6_uc004cun.1_Missense_Mutation_p.H244R|ARHGAP6_uc010neb.1_Missense_Mutation_p.H246R|ARHGAP6_uc011mif.1_Missense_Mutation_p.H221R	p.H424R	NM_013427	NP_038286	O43182	RHG06_HUMAN			5	2144	-			424			Rho-GAP.		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	ENST00000337414.4	37	c.1271A>G	CCDS14140.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.434438	0.83776	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.16196	2.36;2.36;2.36;2.36;2.36;2.36;2.36;2.36	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.231252	0.30235	N	0.010099	T	0.20007	0.0481	N	0.22421	0.69	0.48901	D	0.999728	P;B;P;P;D	0.56968	0.549;0.27;0.914;0.853;0.978	B;B;P;P;P	0.54174	0.326;0.305;0.602;0.718;0.744	T	0.05750	-1.0866	10	0.17832	T	0.49	.	14.9248	0.70868	0.0:0.0:0.0:1.0	.	233;221;424;424;424	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	R	249;221;221;424;260;424;233;456	ENSP00000438135:H249R;ENSP00000370112:H221R;ENSP00000302312:H221R;ENSP00000338967:H424R;ENSP00000370093:H260R;ENSP00000370094:H424R;ENSP00000389394:H233R;ENSP00000370108:H456R	ENSP00000302312:H221R	H	-	2	0	ARHGAP6	11114279	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.758000	0.68776	1.907000	0.55213	0.486000	0.48141	CAT		PASS	0.393	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055760.2	NM_013427		61	79	61	79	---	---	---	---
KIAA2022	340533	broad.mit.edu	37	X	73959296	73959296	+	Missense_Mutation	SNP	A	A	T			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chrX:73959296A>T	ENST00000055682.6	-	4	5106	c.4495T>A	c.(4495-4497)Ttt>Att	p.F1499I		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	1499					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)	p.F1499I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAAACCCAAAAGGTTGTTTCT	0.358																																						uc004eby.2																			1	Substitution - Missense(1)		lung(1)	ovary(7)|large_intestine(4)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	15						c.(4495-4497)TTT>ATT		hypothetical protein LOC340533							68.0	61.0	63.0					X																	73959296		2202	4300	6502	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73959296A>T		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.4495T>A	X.37:g.73959296A>T	ENSP00000055682:p.Phe1499Ile						p.F1499I	NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN			4	5112	-			1499					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.4495T>A	CCDS35337.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	7.123|7.123	0.578404|0.578404	0.13686|0.13686	.|.	.|.	ENSG00000050030|ENSG00000050030	ENST00000373468;ENST00000055682|ENST00000424929	T;T|.	0.33654|.	1.4;1.4|.	5.5|5.5	3.05|3.05	0.35203|0.35203	.|.	0.229124|.	0.44688|.	D|.	0.000430|.	T|T	0.30510|0.30510	0.0767|0.0767	L|L	0.29908|0.29908	0.895|0.895	0.30851|0.30851	N|N	0.734599|0.734599	B|.	0.18166|.	0.026|.	B|.	0.23716|.	0.048|.	T|T	0.29640|0.29640	-1.0005|-1.0005	10|5	0.87932|.	D|.	0|.	-2.9801|-2.9801	5.507|5.507	0.16860|0.16860	0.7065:0.1436:0.1499:0.0|0.7065:0.1436:0.1499:0.0	.|.	1499|.	Q5QGS0|.	K2022_HUMAN|.	I|H	1499|100	ENSP00000362567:F1499I;ENSP00000055682:F1499I|.	ENSP00000055682:F1499I|.	F|L	-|-	1|2	0|0	KIAA2022|KIAA2022	73876021|73876021	0.997000|0.997000	0.39634|0.39634	0.842000|0.842000	0.33263|0.33263	0.378000|0.378000	0.30076|0.30076	1.367000|1.367000	0.34204|0.34204	0.222000|0.222000	0.20900|0.20900	-0.313000|-0.313000	0.08912|0.08912	TTT|CTT		PASS	0.358	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		18	27	18	27	---	---	---	---
MAGEE2	139599	broad.mit.edu	37	X	75004435	75004435	+	Missense_Mutation	SNP	G	G	T	rs143829521	byFrequency	TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chrX:75004435G>T	ENST00000373359.2	-	1	644	c.452C>A	c.(451-453)gCt>gAt	p.A151D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	151	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.A151D(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTAGGTGTCAGCCTGAGGATC	0.517																																						uc004ecj.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(451-453)GCT>GAT		melanoma antigen family E, 2							35.0	29.0	31.0					X																	75004435		2203	4299	6502	SO:0001583	missense	139599							g.chrX:75004435G>T	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.452C>A	X.37:g.75004435G>T	ENSP00000362457:p.Ala151Asp						p.A151D	NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN			1	637	-			151			MAGE 1.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.452C>A	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	G	0.028	-1.351178	0.01256	.	.	ENSG00000186675	ENST00000373359	T	0.05025	3.51	3.08	1.2	0.21068	.	.	.	.	.	T	0.03783	0.0107	N	0.11724	0.165	0.09310	N	1	P	0.38250	0.624	B	0.41332	0.354	T	0.43261	-0.9402	9	0.23891	T	0.37	.	4.0371	0.09735	0.1461:0.2383:0.6156:0.0	.	151	Q8TD90	MAGE2_HUMAN	D	151	ENSP00000362457:A151D	ENSP00000362457:A151D	A	-	2	0	MAGEE2	74921160	0.410000	0.25376	0.000000	0.03702	0.101000	0.19017	0.909000	0.28558	0.177000	0.19895	0.422000	0.28245	GCT		PASS	0.517	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		9	34	9	34	---	---	---	---
TBX22	50945	broad.mit.edu	37	X	79278709	79278709	+	Missense_Mutation	SNP	G	G	C			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chrX:79278709G>C	ENST00000373294.5	+	2	354	c.326G>C	c.(325-327)gGg>gCg	p.G109A	TBX22_ENST00000373296.3_Missense_Mutation_p.G109A|TBX22_ENST00000373291.1_5'UTR|TBX22_ENST00000442340.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	109					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G109A(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CATGACATCGGGACTGAGATG	0.468																																						uc010nmg.1																			1	Substitution - Missense(1)		lung(1)	lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(325-327)GGG>GCG		T-box 22 isoform 1							77.0	70.0	72.0					X																	79278709		2203	4300	6503	SO:0001583	missense	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79278709G>C	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.326G>C	X.37:g.79278709G>C	ENSP00000362390:p.Gly109Ala					TBX22_uc004edi.1_5'UTR|TBX22_uc004edj.1_Missense_Mutation_p.G109A	p.G109A	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			3	460	+			109			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	ENST00000373294.5	37	c.326G>C	CCDS14445.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.610700	0.87258	.	.	ENSG00000122145	ENST00000373296;ENST00000373294	D;D	0.88124	-2.34;-2.34	4.92	4.92	0.64577	Transcription factor, T-box, conserved site (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95271	0.8466	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96672	0.9497	10	0.87932	D	0	.	15.7562	0.78030	0.0:0.0:1.0:0.0	.	109	Q9Y458	TBX22_HUMAN	A	109	ENSP00000362393:G109A;ENSP00000362390:G109A	ENSP00000362390:G109A	G	+	2	0	TBX22	79165365	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.544000	0.90654	2.020000	0.59435	0.600000	0.82982	GGG		PASS	0.468	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		22	54	22	54	---	---	---	---
F9	2158	broad.mit.edu	37	X	138643921	138643921	+	Silent	SNP	C	C	A			TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chrX:138643921C>A	ENST00000218099.2	+	8	1084	c.1077C>A	c.(1075-1077)gtC>gtA	p.V359V	F9_ENST00000394090.2_Silent_p.V321V	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	359	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)	p.V359V(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	GGGGAAGAGTCTTCCACAAAG	0.428																																						uc004fas.1																			1	Substitution - coding silent(1)		lung(1)	lung(2)|ovary(1)	3	GRCh37	CD890150	F9	D		c.(1075-1077)GTC>GTA		coagulation factor IX preproprotein	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)						148.0	122.0	131.0					X																	138643921		2203	4300	6503	SO:0001819	synonymous_variant	2158				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	g.chrX:138643921C>A	M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.1077C>A	X.37:g.138643921C>A						F9_uc004fat.1_Silent_p.V321V	p.V359V	NM_000133	NP_000124	P00740	FA9_HUMAN			8	1106	+	Acute lymphoblastic leukemia(192;0.000127)		359			Peptidase S1.		A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Silent	SNP	ENST00000218099.2	37	c.1077C>A	CCDS14666.1																																																																																				PASS	0.428	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058557.1			44	67	44	67	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2024249	2024250	+	Frame_Shift_Del	DEL	CG	CG	-	rs145411559		TCGA-60-2725-01A-01D-1267-08	TCGA-60-2725-11A-01D-1267-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f3ed705b-e5aa-4756-9794-e4b85303693a	ce952445-af56-4361-b414-5fea59352da2	g.chr8:2024249_2024250delCG	ENST00000262113.4	+	11	1290_1291	c.1149_1150delCG	c.(1147-1152)cccggtfs	p.G384fs	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	384					muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGGGGCCCCCGGTGCACCCAT	0.609																																						uc003wpx.3																			0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1147-1152)CCCGGTfs		myomesin 2																																				SO:0001589	frameshift_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2024249_2024250delCG		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1149_1150delCG	8.37:g.2024249_2024250delCG	ENSP00000262113:p.Gly384fs					MYOM2_uc011kwi.1_Intron	p.P383fs	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	11	1287_1288	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	383_384			Fibronectin type-III 1.		Q7Z3Y2	Frame_Shift_Del	DEL	ENST00000262113.4	37	c.1149_1150delCG	CCDS5957.1																																																																																					0.609	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		34	16	34	16	---	---	---	---
