#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
FRG1B	284802	broad.mit.edu	37	20	29625961	29625961	+	Missense_Mutation	SNP	C	C	A	rs577915367	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:29625961C>A	ENST00000278882.3	+	5	585	c.205C>A	c.(205-207)Caa>Aaa	p.Q69K	FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K|FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	69								p.Q69K(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACCAAGAGAACAATGGGAACC	0.333													.|||	20	0.00399361	0.0083	0.0043	5008	,	,		42456	0.003		0.002	False		,,,				2504	0.001					ENST00000278882.3																			2	Substitution - Missense(2)	p.Q69K(2)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(205-207)Caa>Aaa																																						SO:0001583	missense	0							g.chr20:29625961C>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.205C>A	20.37:g.29625961C>A	ENSP00000278882:p.Gln69Lys					FRG1B_ENST00000439954.2_Missense_Mutation_p.Q74K|FRG1B_ENST00000358464.4_Missense_Mutation_p.Q69K	p.Q69K							5	585	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.205C>A		.	.	.	.	.	.	.	.	.	.	c	8.933	0.963969	0.18583	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.35711	0.0941	.	.	.	0.53005	D	0.999964	B	0.06786	0.001	B	0.12837	0.008	T	0.33163	-0.9879	9	0.52906	T	0.07	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	74	F5H5R5	.	K	69;74;69	ENSP00000408863:Q74K	ENSP00000278882:Q69K	Q	+	1	0	FRG1B	28239622	1.000000	0.71417	0.999000	0.59377	0.188000	0.23474	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAA		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		15	458	1	0	2.49991e-28	1	2.68692e-28	15	458				
SLFN11	91607	broad.mit.edu	37	17	33690685	33690685	+	Missense_Mutation	SNP	G	G	A	rs192676350		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:33690685G>A	ENST00000394566.1	-	4	414	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SLFN11_ENST00000308377.4_Missense_Mutation_p.R48W	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	48					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CATGCAGCCCGCATAACTCTC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18185	0.001		0.0	False		,,,				2504	0.0					ENST00000394566.1																			0				autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50						c.(142-144)Cgg>Tgg		schlafen family member 11							135.0	138.0	137.0					17																	33690685		2203	4300	6503	SO:0001583	missense	91607					nucleus	ATP binding	g.chr17:33690685G>A	AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.142C>T	17.37:g.33690685G>A	ENSP00000378067:p.Arg48Trp					SLFN11_ENST00000308377.4_Missense_Mutation_p.R48W	p.R48W	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	4	414	-		Ovarian(249;0.17)	48					E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	ENST00000394566.1	37	c.142C>T	CCDS11294.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	15.14	2.746498	0.49257	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.25085	4.4;4.4;1.82;2.14;1.82	4.0	-3.81	0.04294	.	0.822637	0.09913	N	0.739573	T	0.23410	0.0566	M	0.62723	1.935	0.09310	N	1	D	0.69078	0.997	P	0.46144	0.505	T	0.20874	-1.0262	10	0.87932	D	0	.	2.4366	0.04485	0.0925:0.2608:0.2899:0.3568	.	48	Q7Z7L1	SLN11_HUMAN	W	48	ENSP00000312402:R48W;ENSP00000378067:R48W;ENSP00000397454:R48W;ENSP00000393615:R48W;ENSP00000395140:R48W	ENSP00000312402:R48W	R	-	1	2	SLFN11	30714798	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.548000	0.02184	-0.228000	0.09869	-0.136000	0.14681	CGG		0.458	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256480.1	NM_152270		7	839	0	0	0	1	0	7	839				
SLC12A7	10723	broad.mit.edu	37	5	1083957	1083957	+	Silent	SNP	G	G	A	rs552429468	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1083957G>A	ENST00000264930.5	-	8	1075	c.1032C>T	c.(1030-1032)aaC>aaT	p.N344N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	344					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCTGGGAGCCGTTGCAGAAGA	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		16849	0.0		0.0	False		,,,				2504	0.002					ENST00000264930.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32						c.(1030-1032)aaC>aaT		solute carrier family 12 (potassium/chloride transporter), member 7	Potassium Chloride(DB00761)						80.0	73.0	76.0					5																	1083957		2200	4300	6500	SO:0001819	synonymous_variant	10723				potassium ion transport|sodium ion transport	integral to plasma membrane	potassium:chloride symporter activity	g.chr5:1083957G>A	AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.1032C>T	5.37:g.1083957G>A							p.N344N	NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		8	1075	-	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		344					A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Silent	SNP	ENST00000264930.5	37	c.1032C>T	CCDS34129.1																																																																																				0.647	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366446.2	NM_006598		5	465	0	0	0	1	0	5	465				
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					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 transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A							p.P780P	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		9	951	0	0	0	1	0	9	951				
LOC645752	645752	broad.mit.edu	37	15	78208916	78208916	+	lincRNA	SNP	C	C	G	rs56290535	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:78208916C>G	ENST00000565869.1	+	0	53				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							TCCAGATGTTCTCCTCCATCT	0.627													C|||	476	0.0950479	0.0998	0.1023	5008	,	,		17114	0.0675		0.1054	False		,,,				2504	0.1012					ENST00000565869.1																			0																																																			0							g.chr15:78208916C>G																													15.37:g.78208916C>G														0	53	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.627	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			5	437	0	0	0	1	0	5	437				
C4orf46	201725	broad.mit.edu	37	4	159592816	159592816	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:159592816G>A	ENST00000379205.4	-	1	382	c.138C>T	c.(136-138)agC>agT	p.S46S	C4orf46_ENST00000508457.1_Silent_p.S46S|C4orf46_ENST00000508836.1_Intron|ETFDH_ENST00000307738.5_5'Flank|ETFDH_ENST00000511912.1_5'Flank	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN	chromosome 4 open reading frame 46	46										kidney(1)|lung(3)|skin(1)	5						CCGTTGGGCCGCTGCTCCTGC	0.687																																						ENST00000379205.4																			0				kidney(1)|lung(3)|skin(1)	5						c.(136-138)agC>agT		chromosome 4 open reading frame 46							33.0	28.0	30.0					4																	159592816		2203	4300	6503	SO:0001819	synonymous_variant	201725							g.chr4:159592816G>A		CCDS34088.1	4q32.1	2014-07-30			ENSG00000205208	ENSG00000205208			27320	protein-coding gene	gene with protein product	"""renal cancer differentiation gene 1"""						Standard	NM_001008393		Approved	LOC201725, RCDG1	uc003iqa.3	Q504U0	OTTHUMG00000161919	ENST00000379205.4:c.138C>T	4.37:g.159592816G>A						C4orf46_ENST00000508457.1_Silent_p.S46S|C4orf46_ENST00000508836.1_Intron	p.S46S	NM_001008393.2	NP_001008394.1	Q504U0	CD046_HUMAN			1	382	-			46					B3KNH7	Silent	SNP	ENST00000379205.4	37	c.138C>T	CCDS34088.1																																																																																				0.687	C4orf46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366378.1	NM_001008393		4	137	0	0	0	1	0	4	137				
NPFF	8620	broad.mit.edu	37	12	53898955	53898955	+	IGR	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:53898955C>T	ENST00000267017.3	-	0	592				TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V|TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000266987.2_Missense_Mutation_p.A217V|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V	NM_003717.2	NP_003708.1	O15130	NPFF_HUMAN	neuropeptide FF-amide peptide precursor						acute inflammatory response to antigenic stimulus (GO:0002438)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of appetite (GO:0032099)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion (GO:0046676)|neuropeptide signaling pathway (GO:0007218)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of membrane depolarization (GO:0003254)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|response to morphine (GO:0043278)|somatostatin secretion (GO:0070253)|spinal cord development (GO:0021510)|synaptic transmission (GO:0007268)|vasopressin secretion (GO:0030103)	axon terminus (GO:0043679)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|perikaryon (GO:0043204)|vesicle (GO:0031982)	receptor binding (GO:0005102)			haematopoietic_and_lymphoid_tissue(1)|prostate(1)|urinary_tract(1)	3						AAGCGGAATGCGGCGGCCAAA	0.572																																						ENST00000266987.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						c.(649-651)gCg>gTg		TAR (HIV-1) RNA binding protein 2							129.0	118.0	122.0					12																	53898955		2203	4300	6503	SO:0001628	intergenic_variant	6895				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding	g.chr12:53898955C>T	AF005271	CCDS8862.1	12q13.13	2013-02-26			ENSG00000139574	ENSG00000139574		"""Endogenous ligands"""	7901	protein-coding gene	gene with protein product		604643				9224703	Standard	NM_003717		Approved	FMRFAL	uc001sdw.1	O15130	OTTHUMG00000169856		12.37:g.53898955C>T						TARBP2_ENST00000552857.1_Intron|TARBP2_ENST00000456234.2_Missense_Mutation_p.A196V|TARBP2_ENST00000394357.2_Missense_Mutation_p.A196V	p.A217V	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN			7	1133	+			217			DRBM 2.|Sufficient for interaction with PRKRA.		Q3SXL4	Missense_Mutation	SNP	ENST00000267017.3	37	c.650C>T	CCDS8862.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224601	0.95139	.	.	ENSG00000139546	ENST00000266987;ENST00000456234;ENST00000394357	D;D;D	0.92495	-3.05;-3.05;-3.05	4.98	4.98	0.66077	Double-stranded RNA-binding (3);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.96981	0.9014	M	0.93106	3.38	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.97636	1.0145	10	0.87932	D	0	-16.1595	17.5584	0.87900	0.0:1.0:0.0:0.0	.	217	Q15633	TRBP2_HUMAN	V	217;196;196	ENSP00000266987:A217V;ENSP00000416077:A196V;ENSP00000377885:A196V	ENSP00000266987:A217V	A	+	2	0	TARBP2	52185222	0.999000	0.42202	0.518000	0.27811	0.879000	0.50718	4.317000	0.59184	2.759000	0.94783	0.561000	0.74099	GCG		0.572	NPFF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406301.1	NM_003717		6	669	0	0	0	1	0	6	669				
PRPF31	26121	broad.mit.edu	37	19	54625963	54625963	+	Missense_Mutation	SNP	G	G	A	rs147725190		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:54625963G>A	ENST00000321030.4	+	5	759	c.410G>A	c.(409-411)cGc>cAc	p.R137H	PRPF31_ENST00000419967.1_Missense_Mutation_p.R137H|PRPF31_ENST00000498612.1_3'UTR|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000391755.1_Missense_Mutation_p.R137H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	137					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal tri-snRNP complex assembly (GO:0000244)	Cajal body (GO:0015030)|MLL1 complex (GO:0071339)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|U2-type spliceosomal complex (GO:0005684)|U4 snRNP (GO:0005687)|U4/U6 x U5 tri-snRNP complex (GO:0046540)|U4atac snRNP (GO:0005690)	poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|snRNP binding (GO:0070990)			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GATTACATCCGCACGGTCAAG	0.577																																						ENST00000321030.4																			0				breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12						c.(409-411)cGc>cAc		pre-mRNA processing factor 31		G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	158.0	137.0	144.0		410	4.1	1.0	19	dbSNP_134	144	0,8600		0,0,4300	no	missense	PRPF31	NM_015629.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	137/500	54625963	1,13005	2203	4300	6503	SO:0001583	missense	26121				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding	g.chr19:54625963G>A	AL050369	CCDS12879.1	19q13.4	2013-07-16	2013-06-10		ENSG00000105618	ENSG00000105618			15446	protein-coding gene	gene with protein product		606419	"""PRP31 pre-mRNA processing factor 31 homolog (yeast)"", ""PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae)"""	RP11		11545739	Standard	NM_015629		Approved	NY-BR-99, PRP31, hPrp31, SNRNP61	uc002qdh.2	Q8WWY3	OTTHUMG00000066040	ENST00000321030.4:c.410G>A	19.37:g.54625963G>A	ENSP00000324122:p.Arg137His					PRPF31_ENST00000419967.1_Missense_Mutation_p.R137H|AC012314.8_ENST00000452097.1_RNA|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.R137H	p.R137H	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN			5	759	+	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		137					Q17RB4|Q8N7F9|Q9H271|Q9Y439	Missense_Mutation	SNP	ENST00000321030.4	37	c.410G>A	CCDS12879.1	.	.	.	.	.	.	.	.	.	.	G	17.18	3.324578	0.60634	2.27E-4	0.0	ENSG00000105618	ENST00000321030;ENST00000445811;ENST00000263436;ENST00000419967;ENST00000445124;ENST00000447810;ENST00000391755	D;D;D;D;D;D	0.84370	-1.84;-1.84;-1.84;-1.84;-1.84;-1.84	5.13	4.1	0.47936	NOSIC (2);	0.000000	0.85682	D	0.000000	D	0.91703	0.7377	M	0.89715	3.055	0.53005	D	0.999969	D;D	0.65815	0.995;0.995	P;P	0.57548	0.823;0.823	D	0.92952	0.6381	10	0.72032	D	0.01	-19.4005	12.9157	0.58205	0.0808:0.0:0.9192:0.0	.	137;137	E7ESA8;Q8WWY3	.;PRP31_HUMAN	H	137	ENSP00000324122:R137H;ENSP00000395894:R137H;ENSP00000405166:R137H;ENSP00000408980:R137H;ENSP00000395089:R137H;ENSP00000375635:R137H	ENSP00000263436:R137H	R	+	2	0	PRPF31	59317775	1.000000	0.71417	0.989000	0.46669	0.035000	0.12851	8.667000	0.91153	1.302000	0.44855	-0.140000	0.14226	CGC		0.577	PRPF31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141417.2			7	685	0	0	0	1	0	7	685				
CNTRL	11064	broad.mit.edu	37	9	123927306	123927306	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:123927306G>A	ENST00000373855.1	+	35	5769	c.5509G>A	c.(5509-5511)Gaa>Aaa	p.E1837K	CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1285K|CNTRL_ENST00000238341.5_Missense_Mutation_p.E1837K			Q7Z7A1	CNTRL_HUMAN	centriolin	1837					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACTGCAGCAGGAACTAGACCA	0.408																																						ENST00000373855.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(5509-5511)Gaa>Aaa		centriolin							99.0	89.0	93.0					9																	123927306		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123927306G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.5509G>A	9.37:g.123927306G>A	ENSP00000362962:p.Glu1837Lys					CNTRL_ENST00000238341.5_Missense_Mutation_p.E1837K|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000373850.1_Missense_Mutation_p.E1285K	p.E1837K			Q7Z7A1	CNTRL_HUMAN			35	5769	+			1837					A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.5509G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	34	5.339302	0.95783	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000439778;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.43294	1.2;1.2;0.95	5.8	5.8	0.92144	.	.	.	.	.	T	0.64461	0.2600	M	0.65498	2.005	0.50171	D	0.999853	D	0.69078	0.997	D	0.75020	0.985	T	0.62048	-0.6936	9	0.48119	T	0.1	.	19.0575	0.93072	0.0:0.0:1.0:0.0	.	1837	Q7Z7A1	CNTRL_HUMAN	K	1837;1837;1837;593;19;1285;519	ENSP00000362962:E1837K;ENSP00000238341:E1837K;ENSP00000362956:E1285K	ENSP00000238341:E1837K	E	+	1	0	CNTRL	122967127	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.929000	0.56514	2.758000	0.94735	0.563000	0.77884	GAA		0.408	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	NM_007018		23	255	0	0	0	1	0	23	255				
OR5H1	26341	broad.mit.edu	37	3	97851900	97851900	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:97851900A>G	ENST00000354565.2	+	1	359	c.359A>G	c.(358-360)tAt>tGt	p.Y120C	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						ACGATGGCATATGATCGCTAT	0.393																																						ENST00000354565.2																			0				breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						c.(358-360)tAt>tGt		olfactory receptor, family 5, subfamily H, member 1							135.0	132.0	133.0					3																	97851900		2201	4299	6500	SO:0001583	missense	26341				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97851900A>G	X64988	CCDS33797.1	3q12.1	2012-08-09			ENSG00000231192	ENSG00000231192		"""GPCR / Class A : Olfactory receptors"""	8346	protein-coding gene	gene with protein product						1370859	Standard	NM_001005338		Approved	HTPCRX14, HSHTPCRX14	uc011bgt.2	A6NKK0	OTTHUMG00000160070	ENST00000354565.2:c.359A>G	3.37:g.97851900A>G	ENSP00000346575:p.Tyr120Cys					RP11-343D2.11_ENST00000508964.1_RNA	p.Y120C	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN			1	359	+			120						Missense_Mutation	SNP	ENST00000354565.2	37	c.359A>G	CCDS33797.1	.	.	.	.	.	.	.	.	.	.	A	5.647	0.304060	0.10678	.	.	ENSG00000231192	ENST00000354565	T	0.01347	4.99	3.57	3.57	0.40892	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	D	0.000670	T	0.03783	0.0107	M	0.91090	3.175	0.23238	N	0.998065	B	0.33280	0.405	B	0.30782	0.12	T	0.12682	-1.0538	10	0.87932	D	0	.	10.1009	0.42504	1.0:0.0:0.0:0.0	.	120	A6NKK0	OR5H1_HUMAN	C	120	ENSP00000346575:Y120C	ENSP00000346575:Y120C	Y	+	2	0	OR5H1	99334590	1.000000	0.71417	0.997000	0.53966	0.092000	0.18411	2.069000	0.41481	1.481000	0.48307	0.164000	0.16699	TAT		0.393	OR5H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359100.2	NM_001005338		6	936	0	0	0	1	0	6	936				
RAD54B	25788	broad.mit.edu	37	8	95419794	95419794	+	Silent	SNP	C	C	T	rs113276250	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:95419794C>T	ENST00000336148.5	-	5	778	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_012415.3	NP_036547.1	Q9Y620	RA54B_HUMAN	RAD54 homolog B (S. cerevisiae)	218					ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair via homologous recombination (GO:0000724)|mitotic recombination (GO:0006312)|reciprocal meiotic recombination (GO:0007131)	nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|RNA helicase activity (GO:0003724)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			GAGAAGAATGCGAGATAGCAG	0.398								Direct reversal of damage;Homologous recombination					C|||	12	0.00239617	0.0076	0.0029	5008	,	,		15352	0.0		0.0	False		,,,				2504	0.0					ENST00000336148.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(652-654)tcG>tcA	Direct reversal of damage;Homologous recombination	RAD54 homolog B (S. cerevisiae)		C	,	34,4372	39.2+/-71.8	0,34,2169	111.0	110.0	110.0		102,654	2.6	0.0	8	dbSNP_132	110	1,8599		0,1,4299	yes	coding-synonymous,coding-synonymous	RAD54B	NM_001205263.1,NM_012415.3	,	0,35,6468	TT,TC,CC		0.0116,0.7717,0.2691	,	34/727,218/911	95419794	35,12971	2203	4300	6503	SO:0001819	synonymous_variant	25788				double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	g.chr8:95419794C>T	AF112481	CCDS6262.1, CCDS56546.1, CCDS75768.1	8q22.1	2014-08-08			ENSG00000197275	ENSG00000197275			17228	protein-coding gene	gene with protein product		604289				10362364, 10851248	Standard	NM_012415		Approved	RDH54	uc003ygk.3	Q9Y620	OTTHUMG00000133658	ENST00000336148.5:c.654G>A	8.37:g.95419794C>T							p.S218S	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00217)		5	778	-	Breast(36;4.5e-05)		0					F6WBS8	Silent	SNP	ENST00000336148.5	37	c.654G>A	CCDS6262.1																																																																																				0.398	RAD54B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257806.3	NM_012415		5	469	0	0	0	1	0	5	469				
DSG4	147409	broad.mit.edu	37	18	28968349	28968349	+	Missense_Mutation	SNP	C	C	T	rs36040686	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28968349C>T	ENST00000308128.4	+	4	371	c.236C>T	c.(235-237)tCg>tTg	p.S79L	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.S79L|RP11-534N16.1_ENST00000581452.1_RNA	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	79	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTGCGAATCGAACCAGAAG	0.418													C|||	22	0.00439297	0.0061	0.0029	5008	,	,		19389	0.0		0.005	False		,,,				2504	0.0072					ENST00000359747.4																			0				NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(235-237)tCg>tTg		desmoglein 4		C	LEU/SER,LEU/SER	17,4389	24.3+/-50.5	0,17,2186	90.0	79.0	83.0		236,236	-1.7	0.5	18	dbSNP_126	83	46,8552	30.7+/-82.3	1,44,4254	yes	missense,missense	DSG4	NM_001134453.1,NM_177986.3	145,145	1,61,6440	TT,TC,CC		0.535,0.3858,0.4845	benign,benign	79/1060,79/1041	28968349	63,12941	2203	4299	6502	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28968349C>T	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.236C>T	18.37:g.28968349C>T	ENSP00000311859:p.Ser79Leu					DSG4_ENST00000308128.4_Missense_Mutation_p.S79L|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.S79L	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		4	265	+			79			Cadherin 1.		A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.236C>T	CCDS11897.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	4	0.005277044854881266	C	3.600	-0.081781	0.07141	0.003858	0.00535	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.50548	0.74;0.74	5.73	-1.72	0.08107	Cadherin (4);Cadherin-like (1);	1.212930	0.06449	N	0.727362	T	0.29458	0.0734	L	0.41492	1.28	0.09310	N	0.999999	B;B	0.21309	0.0;0.054	B;B	0.23419	0.001;0.046	T	0.39440	-0.9614	10	0.54805	T	0.06	.	6.5359	0.22352	0.1368:0.358:0.0:0.5052	rs36040686	79;79	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	L	79	ENSP00000311859:S79L;ENSP00000352785:S79L	ENSP00000311859:S79L	S	+	2	0	DSG4	27222347	0.000000	0.05858	0.473000	0.27253	0.024000	0.10985	-0.768000	0.04715	-0.177000	0.10690	-0.143000	0.13931	TCG		0.418	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		14	177	0	0	0	1	0	14	177				
FBXW10	10517	broad.mit.edu	37	17	18671872	18671872	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:18671872T>C	ENST00000395665.4	+	10	1951	c.1730T>C	c.(1729-1731)gTg>gCg	p.V577A	FBXW10_ENST00000395667.1_Missense_Mutation_p.V577A|FBXW10_ENST00000301938.4_Missense_Mutation_p.V577A|FBXW10_ENST00000308799.4_Missense_Mutation_p.V606A			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	577										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GAGGGAGCCGTGAAATGCCTG	0.527																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(1816-1818)gTg>gCg		F-box and WD repeat domain containing 10							129.0	120.0	123.0					17																	18671872		2203	4300	6503	SO:0001583	missense	10517							g.chr17:18671872T>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.1730T>C	17.37:g.18671872T>C	ENSP00000379025:p.Val577Ala					FBXW10_ENST00000301938.4_Missense_Mutation_p.V577A|FBXW10_ENST00000395667.1_Missense_Mutation_p.V577A|FBXW10_ENST00000395665.4_Missense_Mutation_p.V577A	p.V606A			Q5XX13	FBW10_HUMAN			9	2036	+			577					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Missense_Mutation	SNP	ENST00000395665.4	37	c.1817T>C	CCDS11199.3	.	.	.	.	.	.	.	.	.	.	T	12.96	2.095926	0.36952	.	.	ENSG00000171931	ENST00000395667;ENST00000308799;ENST00000301938;ENST00000395665	T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78	2.97	2.97	0.34412	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.081272	0.49305	U	0.000154	D	0.86439	0.5933	M	0.90542	3.125	0.42816	D	0.993975	D;D;D;D	0.89917	0.999;0.998;0.997;1.0	D;D;D;D	0.83275	0.991;0.99;0.992;0.996	D	0.87673	0.2542	10	0.87932	D	0	.	9.3557	0.38164	0.0:0.0:0.0:1.0	.	577;606;577;577	Q5XX13-3;Q5XX13-2;Q5XX13;Q5XX13-4	.;.;FBW10_HUMAN;.	A	577;606;577;577	ENSP00000379026:V577A;ENSP00000310382:V606A;ENSP00000306937:V577A;ENSP00000379025:V577A	ENSP00000306937:V577A	V	+	2	0	FBXW10	18612597	1.000000	0.71417	0.971000	0.41717	0.150000	0.21749	6.656000	0.74396	1.356000	0.45884	0.163000	0.16589	GTG		0.527	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		5	291	0	0	0	1	0	5	291				
TBCD	6904	broad.mit.edu	37	17	80755631	80755631	+	Splice_Site	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:80755631A>T	ENST00000355528.4	+	8	901		c.e8-1		TBCD_ENST00000539345.2_Splice_Site|TBCD_ENST00000397466.2_Splice_Site|RP11-567O16.1_ENST00000576836.1_RNA	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D						'de novo' posttranslational protein folding (GO:0051084)|adherens junction assembly (GO:0034333)|cellular protein metabolic process (GO:0044267)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of microtubule polymerization (GO:0031115)|positive regulation of GTPase activity (GO:0043547)|post-chaperonin tubulin folding pathway (GO:0007023)|protein folding (GO:0006457)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|tight junction (GO:0005923)	beta-tubulin binding (GO:0048487)|chaperone binding (GO:0051087)|GTPase activator activity (GO:0005096)	p.?(1)				Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			TTTTTTTTTTAGGCACAAATA	0.264																																						ENST00000355528.4																			1	Unknown(1)	p.?(1)	lung(1)								c.e8-1		tubulin folding cofactor D							75.0	67.0	69.0					17																	80755631		1785	4060	5845	SO:0001630	splice_region_variant	6904				'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity	g.chr17:80755631A>T	BC003094	CCDS45818.1	17q25.3	2006-11-21	2006-11-21			ENSG00000141556			11581	protein-coding gene	gene with protein product		604649	"""tubulin-specific chaperone d"""				Standard	NM_005993		Approved		uc002kfz.3	Q9BTW9		ENST00000355528.4:c.772-1A>T	17.37:g.80755631A>T						TBCD_ENST00000539345.2_Splice_Site|TBCD_ENST00000397466.2_Splice_Site		NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)		8	901	+	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)						O95458|Q7L8K1|Q8IXP6|Q8NAX0|Q8WYH4|Q96E74|Q9UF82|Q9UG46|Q9Y2J3	Splice_Site	SNP	ENST00000355528.4	37		CCDS45818.1	.	.	.	.	.	.	.	.	.	.	A	18.73	3.687291	0.68157	.	.	ENSG00000141556	ENST00000355528;ENST00000269368;ENST00000334614;ENST00000536182	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0952	0.53750	1.0:0.0:0.0:0.0	rs57088056	.	.	.	.	-1	.	.	.	+	.	.	TBCD	78348920	1.000000	0.71417	0.980000	0.43619	0.900000	0.52787	6.308000	0.72820	2.111000	0.64477	0.487000	0.48397	.		0.264	TBCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439415.1	NM_005993	Intron	5	79	0	0	0	1	0	5	79				
NADK	65220	broad.mit.edu	37	1	1688600	1688600	+	Intron	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:1688600T>C	ENST00000341426.5	-	4	615				NADK_ENST00000341991.3_Intron|NADK_ENST00000378625.1_Missense_Mutation_p.K242R|NADK_ENST00000342348.5_Intron|NADK_ENST00000344463.4_Missense_Mutation_p.K242R|NADK_ENST00000492768.1_Intron	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCAGGCCCCCTTCCCCCCTGC	0.627																																						ENST00000344463.4																			0				NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17						c.(724-726)aAg>aGg		NAD kinase							14.0	14.0	14.0					1																	1688600		2183	4251	6434	SO:0001627	intron_variant	65220				ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding	g.chr1:1688600T>C	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.393+19A>G	1.37:g.1688600T>C						NADK_ENST00000378625.1_Missense_Mutation_p.K242R|NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000341426.5_Intron|NADK_ENST00000492768.1_Intron	p.K242R			O95544	NADK_HUMAN		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)	6	946	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	131					A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	c.725A>G	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	T	3.419	-0.118517	0.06838	.	.	ENSG00000008130	ENST00000378625;ENST00000344463	T;T	0.44881	0.91;0.91	2.46	-3.97	0.04094	.	5.977390	0.00357	N	0.000027	T	0.24774	0.0601	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.05273	-1.0895	10	0.22109	T	0.4	-0.0113	3.1044	0.06336	0.2015:0.3917:0.0:0.4068	.	242	Q5QPS4	.	R	242	ENSP00000367890:K242R;ENSP00000340925:K242R	ENSP00000340925:K242R	K	-	2	0	NADK	1678460	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-1.785000	0.01767	-1.006000	0.03412	0.459000	0.35465	AAG		0.627	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		6	106	0	0	0	1	0	6	106				
PRG4	10216	broad.mit.edu	37	1	186276168	186276168	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:186276168C>T	ENST00000445192.2	+	7	1362	c.1317C>T	c.(1315-1317)acC>acT	p.T439T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367483.4_Silent_p.T398T|PRG4_ENST00000367485.4_Silent_p.T346T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	439	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CACCCACCACCCCCAAGAAGC	0.657																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(1315-1317)acC>acT		proteoglycan 4							77.0	84.0	82.0					1																	186276168		2203	4298	6501	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276168C>T	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1317C>T	1.37:g.186276168C>T						PRG4_ENST00000367486.3_Silent_p.T396T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T346T|PRG4_ENST00000367483.4_Silent_p.T398T	p.T439T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	1362	+			439			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.1317C>T	CCDS1369.1																																																																																				0.657	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		8	682	0	0	0	1	0	8	682				
KRTAP4-11	653240	broad.mit.edu	37	17	39274416	39274416	+	Missense_Mutation	SNP	C	C	T	rs408579	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:39274416C>T	ENST00000391413.2	-	1	190	c.152G>A	c.(151-153)aGg>aAg	p.R51K		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	51	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.R51K(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCACTGGGGCCTGCAGCAGCT	0.672													t|||	242	0.0483227	0.1248	0.0202	5008	,	,		19066	0.005		0.0219	False		,,,				2504	0.0368					ENST00000391413.2																			1	Substitution - Missense(1)	p.R51K(1)	endometrium(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(151-153)aGg>aAg		keratin associated protein 4-11							9.0	15.0	13.0					17																	39274416		682	1579	2261	SO:0001583	missense	653240					keratin filament		g.chr17:39274416C>T	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.152G>A	17.37:g.39274416C>T	ENSP00000375232:p.Arg51Lys						p.R51K	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	190	-		Breast(137;0.000496)	51		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.152G>A	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	4.205	0.036712	0.08148	.	.	ENSG00000212721	ENST00000391413	T	0.01455	4.87	3.47	-1.13	0.09775	.	2.855670	0.02563	U	0.096976	T	0.02610	0.0079	M	0.72118	2.19	0.09310	N	1	B	0.25441	0.126	B	0.28916	0.096	T	0.52283	-0.8596	10	0.05959	T	0.93	.	3.7627	0.08610	0.1684:0.4051:0.0:0.4265	rs408579	51	Q9BYQ6	KR411_HUMAN	K	51	ENSP00000375232:R51K	ENSP00000375232:R51K	R	-	2	0	KRTAP4-11	36527942	0.000000	0.05858	0.002000	0.10522	0.072000	0.16883	-0.738000	0.04871	-0.091000	0.12440	-0.208000	0.12717	AGG		0.672	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			13	356	0	0	0	1	0	13	356				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		5	286	0	0	0	1	0	5	286				
COL27A1	85301	broad.mit.edu	37	9	117029789	117029789	+	Silent	SNP	G	G	A	rs377713952		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:117029789G>A	ENST00000356083.3	+	34	3844	c.3453G>A	c.(3451-3453)ccG>ccA	p.P1151P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1151	Collagen-like 9.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTCAGGGGCCGCCTGGTGCAG	0.562																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(3451-3453)ccG>ccA		collagen, type XXVII, alpha 1		G		1,4405	2.1+/-5.4	0,1,2202	67.0	73.0	71.0		3453	-10.2	0.0	9		71	0,8600		0,0,4300	no	coding-synonymous	COL27A1	NM_032888.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1151/1861	117029789	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117029789G>A	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.3453G>A	9.37:g.117029789G>A							p.P1151P	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			34	3844	+			1151			Collagen-like 9.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.3453G>A	CCDS6802.1																																																																																				0.562	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		20	202	0	0	0	1	0	20	202				
SCN3A	6328	broad.mit.edu	37	2	166018859	166018859	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166018859C>T	ENST00000360093.3	-	9	1481	c.990G>A	c.(988-990)ggG>ggA	p.G330G	SCN3A_ENST00000283254.7_Silent_p.G330G|SCN3A_ENST00000409101.3_Silent_p.G330G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	330					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GGTCTTTTTGCCCATCCAAAA	0.294																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(988-990)ggG>ggA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						85.0	103.0	97.0					2																	166018859		2201	4299	6500	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166018859C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.990G>A	2.37:g.166018859C>T						SCN3A_ENST00000283254.7_Silent_p.G330G|SCN3A_ENST00000409101.3_Silent_p.G330G	p.G330G	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			9	1481	-			330					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.990G>A																																																																																					0.294	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		6	809	0	0	0	1	0	6	809				
NRP2	8828	broad.mit.edu	37	2	206628415	206628415	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:206628415C>T	ENST00000357785.5	+	13	2093	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	NRP2_ENST00000357118.4_Missense_Mutation_p.R688W|NRP2_ENST00000412873.2_Missense_Mutation_p.R688W|NRP2_ENST00000540178.1_Missense_Mutation_p.R688W|NRP2_ENST00000540841.1_Missense_Mutation_p.R688W|NRP2_ENST00000272849.3_Missense_Mutation_p.R688W|NRP2_ENST00000360409.3_Missense_Mutation_p.R688W|AC007362.3_ENST00000596616.1_RNA|AC007362.3_ENST00000423425.1_RNA|AC007362.3_ENST00000598710.1_RNA			Q99435	NELL2_HUMAN	neuropilin 2	0	VWFC 2. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GAATTTCTTGCGGCTGCAGAG	0.572											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000360409.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						c.(2062-2064)Cgg>Tgg		neuropilin 2							88.0	98.0	94.0					2																	206628415		2201	4298	6499	SO:0001583	missense	8828				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	g.chr2:206628415C>T	AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.2062C>T	2.37:g.206628415C>T	ENSP00000350432:p.Arg688Trp		OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2161	AC007362.3_ENST00000598710.1_RNA|NRP2_ENST00000272849.3_Missense_Mutation_p.R688W|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000357785.5_Missense_Mutation_p.R688W|NRP2_ENST00000540841.1_Missense_Mutation_p.R688W|NRP2_ENST00000357118.4_Missense_Mutation_p.R688W|NRP2_ENST00000540178.1_Missense_Mutation_p.R688W|AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000412873.2_Missense_Mutation_p.R688W	p.R688W	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718.1|NP_958436.1	O60462	NRP2_HUMAN			13	2853	+			688			MAM.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000357785.5	37	c.2062C>T	CCDS46496.1	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579387	0.65878	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	T;T;T;T;T;T;T	0.01998	4.51;4.51;4.51;4.51;4.51;4.51;4.51	5.82	0.939	0.19506	Concanavalin A-like lectin/glucanase (1);MAM domain (4);	0.502966	0.22269	N	0.062283	T	0.05686	0.0149	L	0.47716	1.5	0.80722	D	1	P;D;D;D;D	0.65815	0.746;0.97;0.995;0.988;0.98	B;B;P;P;P	0.52856	0.376;0.376;0.636;0.711;0.711	T	0.23511	-1.0186	10	0.72032	D	0.01	-11.5172	16.6493	0.85185	0.6569:0.3431:0.0:0.0	.	688;688;688;688;688	O60462-2;O60462-3;O60462;O60462-4;O60462-5	.;.;NRP2_HUMAN;.;.	W	688	ENSP00000353582:R688W;ENSP00000439658:R688W;ENSP00000439261:R688W;ENSP00000349632:R688W;ENSP00000350432:R688W;ENSP00000407626:R688W;ENSP00000272849:R688W	ENSP00000272849:R688W	R	+	1	2	NRP2	206336660	0.989000	0.36119	0.998000	0.56505	0.927000	0.56198	-0.006000	0.12833	0.214000	0.20742	0.561000	0.74099	CGG		0.572	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000336467.1			5	681	0	0	0	1	0	5	681				
SSPO	23145	broad.mit.edu	37	7	149500902	149500902	+	RNA	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:149500902G>T	ENST00000378016.2	+	0	8219							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGTTCAGGTGTGCGACAG	0.697																																						ENST00000378016.2																			0													SCO-spondin							19.0	24.0	22.0					7																	149500902		2090	4213	6303			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149500902G>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149500902G>T										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	8219	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.697	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				25	104	1	0	3.6726e-16	1	3.85623e-16	25	104				
FER1L6	654463	broad.mit.edu	37	8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A	rs371597054		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	734						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCTATGCCCGCATCGCCTCC	0.527																																						ENST00000522917.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2200-2202)cGc>cAc		fer-1-like 6 (C. elegans)		G	HIS/ARG	0,3952		0,0,1976	100.0	103.0	102.0		2201	5.8	1.0	8		102	1,8321		0,1,4160	no	missense	FER1L6	NM_001039112.2	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	734/1858	125035751	1,12273	1976	4161	6137	SO:0001583	missense	654463					integral to membrane		g.chr8:125035751G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2201G>A	8.37:g.125035751G>A	ENSP00000428280:p.Arg734His					FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	p.R734H	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2407	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		734						Missense_Mutation	SNP	ENST00000522917.1	37	c.2201G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971850	0.92919	0.0	1.2E-4	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79352	-1.26;-1.26	5.81	5.81	0.92471	Ferlin B-domain (1);	0.162857	0.34435	U	0.003970	D	0.89550	0.6747	M	0.91663	3.23	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	D	0.91017	0.4854	10	0.72032	D	0.01	.	12.8851	0.58038	0.0779:0.0:0.9221:0.0	.	734	Q2WGJ9	FR1L6_HUMAN	H	734	ENSP00000428280:R734H;ENSP00000381982:R734H	ENSP00000381982:R734H	R	+	2	0	FER1L6	125104932	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	9.072000	0.93986	2.751000	0.94390	0.555000	0.69702	CGC		0.527	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	NM_001039112		8	695	0	0	0	1	0	8	695				
GNAZ	2781	broad.mit.edu	37	22	23438122	23438122	+	Silent	SNP	G	G	A	rs143475223		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23438122G>A	ENST00000248996.4	+	2	906	c.240G>A	c.(238-240)tcG>tcA	p.S80S	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	80					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled serotonin receptor binding (GO:0031821)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|receptor signaling protein activity (GO:0005057)|signal transducer activity (GO:0004871)			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		CCATCGACTCGCTGACCCGCA	0.622																																						ENST00000248996.4																			0				endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19						c.(238-240)tcG>tcA		guanine nucleotide binding protein (G protein), alpha z polypeptide		G	,	1,4405	2.1+/-5.4	0,1,2202	155.0	160.0	158.0		240,	-8.1	0.9	22	dbSNP_134	158	0,8600		0,0,4300	no	coding-synonymous,intron	GNAZ,RTDR1	NM_002073.2,NM_014433.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	80/356,	23438122	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2781					endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity	g.chr22:23438122G>A		CCDS13804.1	22q11.1-q11.2	2008-06-10			ENSG00000128266	ENSG00000128266			4395	protein-coding gene	gene with protein product		139160				2115889	Standard	NM_002073		Approved		uc002zwu.1	P19086	OTTHUMG00000150611	ENST00000248996.4:c.240G>A	22.37:g.23438122G>A						RTDR1_ENST00000216036.4_Intron	p.S80S	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN		READ - Rectum adenocarcinoma(21;0.166)	2	906	+	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		80					B2R6C1|Q4QRJ6	Silent	SNP	ENST00000248996.4	37	c.240G>A	CCDS13804.1																																																																																				0.622	GNAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319073.1	NM_002073		57	1144	0	0	0	1	0	57	1144				
SFXN4	119559	broad.mit.edu	37	10	120905815	120905815	+	Missense_Mutation	SNP	G	G	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:120905815G>C	ENST00000355697.2	-	13	888	c.869C>G	c.(868-870)tCt>tGt	p.S290C	SFXN4_ENST00000330036.6_Missense_Mutation_p.S281C|SFXN4_ENST00000461438.1_5'UTR	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN	sideroflexin 4	290					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		GACAGTACAAGACAGTTTCAA	0.433																																						ENST00000355697.2																			0				central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11						c.(868-870)tCt>tGt		sideroflexin 4							155.0	144.0	148.0					10																	120905815		2203	4300	6503	SO:0001583	missense	119559				iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity	g.chr10:120905815G>C		CCDS7610.1	10q26.11	2006-03-13			ENSG00000183605	ENSG00000183605		"""Sideroflexins"""	16088	protein-coding gene	gene with protein product		615564				14756423	Standard	NM_213649		Approved		uc001leb.3	Q6P4A7	OTTHUMG00000019147	ENST00000355697.2:c.869C>G	10.37:g.120905815G>C	ENSP00000347924:p.Ser290Cys					SFXN4_ENST00000330036.6_Missense_Mutation_p.S281C|SFXN4_ENST00000461438.1_5'UTR	p.S290C	NM_213649.1	NP_998814.1	Q6P4A7	SFXN4_HUMAN		all cancers(201;0.0261)	13	888	-		Lung NSC(174;0.094)|all_lung(145;0.123)	290					Q6WSU4|Q86TD9	Missense_Mutation	SNP	ENST00000355697.2	37	c.869C>G	CCDS7610.1	.	.	.	.	.	.	.	.	.	.	G	13.06	2.123757	0.37436	.	.	ENSG00000183605	ENST00000355697;ENST00000330036;ENST00000392875;ENST00000369131	T;T	0.30182	1.54;1.54	5.07	2.86	0.33363	.	0.835144	0.10718	N	0.642040	T	0.36331	0.0963	L	0.50333	1.59	0.09310	N	1	D	0.65815	0.995	P	0.56788	0.806	T	0.21724	-1.0237	10	0.38643	T	0.18	-13.2476	2.1131	0.03708	0.1085:0.1772:0.4529:0.2614	.	290	Q6P4A7	SFXN4_HUMAN	C	290;281;173;174	ENSP00000347924:S290C;ENSP00000333200:S281C	ENSP00000333200:S281C	S	-	2	0	SFXN4	120895805	0.007000	0.16637	0.002000	0.10522	0.045000	0.14185	1.193000	0.32162	1.240000	0.43803	0.650000	0.86243	TCT		0.433	SFXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050642.3	XM_058406		93	452	0	0	0	1	0	93	452				
GLTSCR2	29997	broad.mit.edu	37	19	48260396	48260396	+	IGR	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:48260396G>A	ENST00000246802.5	+	0	1528				CTD-2571L23.6_ENST00000602048.1_RNA|SNORD23_ENST00000408876.1_RNA	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2							intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CCCCCGTGGCGCACAAGCATG	0.607																																					Colon(58;613 1041 9473 10089 15241)	ENST00000602048.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:48260396G>A	AF182076	CCDS12705.1	19q13.3	2014-01-20				ENSG00000105373			4333	protein-coding gene	gene with protein product		605691				10708517, 16971513, 17657248	Standard	NM_015710		Approved	PICT-1	uc002phm.2	Q9NZM5			19.37:g.48260396G>A														0	436	-								Q9BTC6|Q9HAX6|Q9NPP1|Q9NPR4|Q9UFI2	RNA	SNP	ENST00000246802.5	37		CCDS12705.1																																																																																				0.607	GLTSCR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464870.1	NM_015710		4	128	0	0	0	1	0	4	128				
SLC35G3	146861	broad.mit.edu	37	17	33520323	33520323	+	Missense_Mutation	SNP	C	C	T	rs369787605		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:33520323C>T	ENST00000297307.5	-	1	1089	c.1004G>A	c.(1003-1005)aGg>aAg	p.R335K	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	335						integral component of membrane (GO:0016021)		p.R335K(4)									CTCCTCCACCCTCCCTGTCCT	0.557																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.R335K(4)	lung(2)|urinary_tract(1)|prostate(1)								c.(1003-1005)aGg>aAg		solute carrier family 35, member G3							57.0	57.0	57.0					17																	33520323		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520323C>T	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.1004G>A	17.37:g.33520323C>T	ENSP00000297307:p.Arg335Lys						p.R335K	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1089	-			335					B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.1004G>A	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.031780	0.00410	.	.	ENSG00000164729	ENST00000297307	T	0.24723	1.84	.	.	.	.	1.165660	0.06508	N	0.737480	T	0.10723	0.0262	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34378	-0.9831	8	0.07990	T	0.79	0.0	.	.	.	.	335	Q8N808	S35G3_HUMAN	K	335	ENSP00000297307:R335K	ENSP00000297307:R335K	R	-	2	0	SLC35G3	30544436	0.002000	0.14202	0.046000	0.18839	0.046000	0.14306	-1.876000	0.01633	-2.037000	0.00920	-2.088000	0.00374	AGG		0.557	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	294	0	0	0	1	0	4	294				
PCDHA10	56139	broad.mit.edu	37	5	140236911	140236911	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140236911G>A	ENST00000307360.5	+	1	1278	c.1278G>A	c.(1276-1278)gcG>gcA	p.A426A	PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	426	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTGACCGCGCGGGACGGGG	0.647																																						ENST00000307360.5																			0				NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1276-1278)gcG>gcA									106.0	103.0	104.0					5																	140236911		2197	4274	6471	SO:0001819	synonymous_variant	0							g.chr5:140236911G>A	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1278G>A	5.37:g.140236911G>A						PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.A426A|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.A426A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1278	+								A1L493|O75280|Q9NRU2	Silent	SNP	ENST00000307360.5	37	c.1278G>A	CCDS54921.1																																																																																				0.647	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		201	683	0	0	0	1	0	201	683				
MAX	4149	broad.mit.edu	37	14	65560458	65560458	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:65560458G>A	ENST00000358664.4	-	3	269	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	MAX_ENST00000284165.6_Missense_Mutation_p.R47W|MAX_ENST00000358402.4_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000556127.1_RNA|MAX_ENST00000557277.1_5'UTR|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000555667.1_Missense_Mutation_p.R38W|MAX_ENST00000555932.1_Intron|MAX_ENST00000555419.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R38W|MAX_ENST00000246163.2_Missense_Mutation_p.R47W|RP11-840I19.3_ENST00000553633.1_RNA|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000557746.1_Missense_Mutation_p.R38W|MAX_ENST00000556979.1_Missense_Mutation_p.R47W|MAX_ENST00000341653.2_Missense_Mutation_p.R47W	NM_002382.4	NP_002373.3	P61244	MAX_HUMAN	MYC associated factor X	47	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cellular response to peptide hormone stimulus (GO:0071375)|cellular response to starvation (GO:0009267)|negative regulation of gene expression (GO:0010629)|neuron apoptotic process (GO:0051402)|protein complex assembly (GO:0006461)|response to axon injury (GO:0048678)|response to insulin (GO:0032868)|retina development in camera-type eye (GO:0060041)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)|PML body (GO:0016605)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		ACTGAGTCCCGCAAACTGTGA	0.483																																						ENST00000284165.6																			0				breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17						c.(139-141)Cgg>Tgg		MYC associated factor X							189.0	156.0	167.0					14																	65560458		2203	4300	6503	SO:0001583	missense	4149				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr14:65560458G>A		CCDS9770.1, CCDS9771.1, CCDS9772.1, CCDS9774.1, CCDS41965.1	14q23	2014-09-17	2005-02-08		ENSG00000125952	ENSG00000125952		"""Basic helix-loop-helix proteins"""	6913	protein-coding gene	gene with protein product		154950	"""MAX protein"""			1557420	Standard	NM_002382		Approved	bHLHd4, bHLHd5, bHLHd6, bHLHd7, bHLHd8	uc001xif.2	P61244	OTTHUMG00000142809	ENST00000358664.4:c.139C>T	14.37:g.65560458G>A	ENSP00000351490:p.Arg47Trp					RP11-840I19.3_ENST00000553633.1_RNA|MAX_ENST00000358402.4_Missense_Mutation_p.R38W|MAX_ENST00000555932.1_Intron|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555419.1_Intron|MAX_ENST00000341653.2_Missense_Mutation_p.R47W|MAX_ENST00000557746.1_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555261.1_RNA|MAX_ENST00000556979.1_Missense_Mutation_p.R47W|MAX_ENST00000358664.4_Missense_Mutation_p.R47W|MAX_ENST00000556443.1_Missense_Mutation_p.R38W|RP11-840I19.3_ENST00000555898.1_RNA|MAX_ENST00000246163.2_Missense_Mutation_p.R47W|MAX_ENST00000555667.1_Missense_Mutation_p.R38W	p.R47W	NM_145113.1	NP_660088.1	P61244	MAX_HUMAN		all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)	3	287	-			47			Helix-loop-helix motif.		A6NH73|A8K265|A8K4G4|A8K824|P25912|P52163|Q14803|Q96CY8	Missense_Mutation	SNP	ENST00000358664.4	37	c.139C>T	CCDS9771.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.499453	0.85069	.	.	ENSG00000125952	ENST00000341653;ENST00000358402;ENST00000284165;ENST00000358664;ENST00000441116;ENST00000556979;ENST00000555667;ENST00000557746;ENST00000556443;ENST00000246163	D;D;D;D;D;D;D;D;D	0.98762	-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12;-5.12	5.93	5.93	0.95920	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.97390	3.995	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;1.0;0.997;0.998;0.999;0.998;0.999	D	0.98397	1.0566	10	0.87932	D	0	-5.0518	14.004	0.64451	0.0:0.0:0.8485:0.1515	.	47;47;38;38;47;47;47	Q96CY8;Q14803;Q6V3B1;P61244-2;P61244;P61244-3;A6NH73	.;.;.;.;MAX_HUMAN;.;.	W	47;38;47;47;54;47;38;38;38;47	ENSP00000342482:R47W;ENSP00000351175:R38W;ENSP00000284165:R47W;ENSP00000351490:R47W;ENSP00000452378:R47W;ENSP00000452286:R38W;ENSP00000452197:R38W;ENSP00000450818:R38W;ENSP00000246163:R47W	ENSP00000246163:R47W	R	-	1	2	MAX	64630211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.132000	0.71676	2.814000	0.96858	0.563000	0.77884	CGG		0.483	MAX-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286386.1	NM_197957		5	356	0	0	0	1	0	5	356				
ZNF24	7572	broad.mit.edu	37	18	32920384	32920384	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:32920384G>A	ENST00000261332.6	-	2	410	c.231C>T	c.(229-231)tgC>tgT	p.C77C	ZNF24_ENST00000589881.1_Silent_p.C77C|ZNF24_ENST00000399061.3_Silent_p.C77C	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	77	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						GCCACAGACGGCAAAGTTCTC	0.537																																					Colon(42;769 913 8916 19469 46270)	ENST00000589881.1																			0				endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						c.(229-231)tgC>tgT		zinc finger protein 24							104.0	106.0	105.0					18																	32920384		2203	4300	6503	SO:0001819	synonymous_variant	7572				myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:32920384G>A	AF016052	CCDS11912.1	18q12	2013-01-09	2006-05-10		ENSG00000172466	ENSG00000172466		"""-"", ""Zinc fingers, C2H2-type"""	13032	protein-coding gene	gene with protein product		194534	"""zinc finger protein 24 (KOX 17)"""	ZNF191			Standard	NM_006965		Approved	ZSCAN3, Zfp191, KOX17	uc002kys.2	P17028	OTTHUMG00000132565	ENST00000261332.6:c.231C>T	18.37:g.32920384G>A						ZNF24_ENST00000261332.6_Silent_p.C77C|ZNF24_ENST00000399061.3_Silent_p.C77C	p.C77C			P17028	ZNF24_HUMAN			1	234	-			77			SCAN box.		O14754|Q53YE4|Q6ICR5|Q8IZN4	Silent	SNP	ENST00000261332.6	37	c.231C>T	CCDS11912.1																																																																																				0.537	ZNF24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255769.1	NM_006965		6	653	0	0	0	1	0	6	653				
ZIC5	85416	broad.mit.edu	37	13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A	rs577823767		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	660					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTATCGTCCGCACAACTTCA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13720	0.0		0.0	False		,,,				2504	0.0					ENST00000267294.4																			0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1978-1980)Cgg>Tgg		Zic family member 5							66.0	66.0	66.0					13																	100617645		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617645G>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1978C>T	13.37:g.100617645G>A	ENSP00000267294:p.Arg660Trp						p.R660W	NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN			2	2211	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		660					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1978C>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556755	0.65425	.	.	ENSG00000139800	ENST00000267294	T	0.18016	2.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.29321	0.0730	L	0.36672	1.1	0.35097	D	0.764889	D	0.89917	1.0	D	0.69654	0.965	T	0.18335	-1.0340	9	0.87932	D	0	.	11.1163	0.48262	0.0:0.0:0.7346:0.2654	.	660	Q96T25	ZIC5_HUMAN	W	660	ENSP00000267294:R660W	ENSP00000267294:R660W	R	-	1	2	ZIC5	99415646	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	2.915000	0.48805	2.871000	0.98454	0.655000	0.94253	CGG		0.483	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	NM_033132		5	586	0	0	0	1	0	5	586				
KIF6	221458	broad.mit.edu	37	6	39513398	39513398	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:39513398C>T	ENST00000287152.7	-	11	1342	c.1248G>A	c.(1246-1248)gcG>gcA	p.A416A	KIF6_ENST00000538893.1_Silent_p.A416A|KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373216.3_Silent_p.A416A|KIF6_ENST00000373213.4_Silent_p.A255A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TACGCATATCCGCGCCAACCT	0.363																																						ENST00000287152.7																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						c.(1246-1248)gcG>gcA		kinesin family member 6							117.0	113.0	115.0					6																	39513398		2203	4300	6503	SO:0001819	synonymous_variant	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513398C>T	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1248G>A	6.37:g.39513398C>T						KIF6_ENST00000373216.3_Silent_p.A416A|KIF6_ENST00000373215.3_Silent_p.A416A|KIF6_ENST00000373213.4_Silent_p.A255A|KIF6_ENST00000538893.1_Silent_p.A416A	p.A416A	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN			11	1342	-			416					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Silent	SNP	ENST00000287152.7	37	c.1248G>A	CCDS4844.1	.	.	.	.	.	.	.	.	.	.	C	1.650	-0.514326	0.04200	.	.	ENSG00000164627	ENST00000458470	.	.	.	5.56	-10.3	0.00346	.	.	.	.	.	T	0.26231	0.0640	.	.	.	0.47584	D	0.999465	.	.	.	.	.	.	T	0.48990	-0.8985	4	.	.	.	.	6.4908	0.22115	0.2761:0.1099:0.5103:0.1038	.	.	.	.	Q	308	.	.	R	-	2	0	KIF6	39621376	0.004000	0.15560	0.015000	0.15790	0.301000	0.27625	-1.882000	0.01624	-1.844000	0.01178	-2.773000	0.00119	CGG		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027		55	367	0	0	0	1	0	55	367				
ESPNP	284729	broad.mit.edu	37	1	17026447	17026447	+	RNA	SNP	G	G	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:17026447G>C	ENST00000492551.1	-	0	1238					NR_026567.1				espin pseudogene																		TGGGCTGCTTGCTGAAAGCGC	0.736																																						ENST00000492551.1																			0																																																			0							g.chr1:17026447G>C	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17026447G>C								NR_026567.1						0	1238	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.736	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			3	69	0	0	0	1	0	3	69				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		9	263	0	0	0	1	0	9	263				
YIPF3	25844	broad.mit.edu	37	6	43483392	43483392	+	Silent	SNP	G	G	A	rs140780761		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:43483392G>A	ENST00000372422.2	-	3	518	c.336C>T	c.(334-336)taC>taT	p.Y112Y	POLR1C_ENST00000372389.3_5'Flank|YIPF3_ENST00000506469.1_Silent_p.Y118Y|POLR1C_ENST00000304004.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	112					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CGATGTTGGCGTACAAGCTGA	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20250	0.0		0.0	False		,,,				2504	0.0					ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(334-336)taC>taT		Yip1 domain family, member 3		G		2,4404	6.2+/-15.9	0,2,2201	125.0	116.0	119.0		336	-8.4	0.7	6	dbSNP_134	119	0,8600		0,0,4300	no	coding-synonymous	YIPF3	NM_015388.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		112/351	43483392	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43483392G>A	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.336C>T	6.37:g.43483392G>A						YIPF3_ENST00000506469.1_Silent_p.Y118Y	p.Y112Y	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		3	518	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		112					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Silent	SNP	ENST00000372422.2	37	c.336C>T	CCDS4899.1	.	.	.	.	.	.	.	.	.	.	G	9.127	1.010558	0.19277	4.54E-4	0.0	ENSG00000137207	ENST00000500090	.	.	.	5.81	-8.4	0.00965	.	.	.	.	.	T	0.48277	0.1491	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65952	-0.6043	4	.	.	.	-11.1139	15.6501	0.77084	0.2183:0.0:0.6945:0.0872	.	.	.	.	M	12	.	.	T	-	2	0	YIPF3	43591370	0.172000	0.23043	0.740000	0.30986	0.972000	0.66771	-0.370000	0.07523	-1.626000	0.01552	-0.459000	0.05422	ACG		0.517	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		6	587	0	0	0	1	0	6	587				
OR2AG2	338755	broad.mit.edu	37	11	6789727	6789727	+	Silent	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6789727C>A	ENST00000338569.2	-	1	559	c.462G>T	c.(460-462)ctG>ctT	p.L154L		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	154						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTATAGCAATCAGGGATGCCA	0.507																																						ENST00000338569.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28						c.(460-462)ctG>ctT		olfactory receptor, family 2, subfamily AG, member 2							113.0	92.0	99.0					11																	6789727		2201	4296	6497	SO:0001819	synonymous_variant	338755				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6789727C>A	AB065539	CCDS31413.1	11p15.4	2012-08-09		2004-03-10	ENSG00000188124	ENSG00000188124		"""GPCR / Class A : Olfactory receptors"""	15143	protein-coding gene	gene with protein product				OR2AG2P			Standard	NM_001004490		Approved		uc001meq.1	A6NM03	OTTHUMG00000165868	ENST00000338569.2:c.462G>T	11.37:g.6789727C>A							p.L154L	NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	559	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	154						Silent	SNP	ENST00000338569.2	37	c.462G>T	CCDS31413.1																																																																																				0.507	OR2AG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386775.1	NM_001004490		20	328	1	0	8.34094e-07	1	8.43361e-07	20	328				
LILRP2	79166	broad.mit.edu	37	19	55221543	55221543	+	RNA	SNP	T	T	G	rs45452596	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:55221543T>G	ENST00000413439.1	+	0	1323									leukocyte immunoglobulin-like receptor pseudogene 2																		CCTGTGAGGGTCTCCCACGGG	0.662													.|||	15	0.00299521	0.0	0.0086	5008	,	,		16447	0.0		0.006	False		,,,				2504	0.0031				Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			0							g.chr19:55221543T>G	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221543T>G														0	1323	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.662	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		4	305	0	0	0	1	0	4	305				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	0							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		15	575	0	0	0	1	0	15	575				
NOC2L	26155	broad.mit.edu	37	1	889227	889227	+	Missense_Mutation	SNP	G	G	A	rs370030288		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:889227G>A	ENST00000327044.6	-	8	872	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	NOC2L_ENST00000487214.1_5'Flank	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	275					apoptotic process (GO:0006915)|cellular response to UV (GO:0034644)|chromatin assembly (GO:0031497)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of histone acetylation (GO:0035067)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleolus to nucleoplasm transport (GO:0032066)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosome binding (GO:0031491)|poly(A) RNA binding (GO:0044822)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CTGATGTGCCGCAGCACGGCC	0.617																																						ENST00000327044.6																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16						c.(823-825)Cgg>Tgg		nucleolar complex associated 2 homolog (S. cerevisiae)		G	TRP/ARG	1,4405		0,1,2202	35.0	38.0	37.0		823	4.3	0.2	1		37	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOC2L	NM_015658.3	101	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	benign	275/750	889227	2,13004	2203	4300	6503	SO:0001583	missense	26155					nucleolus	protein binding	g.chr1:889227G>A	AL050019	CCDS3.1	1p36.33	2014-06-12			ENSG00000188976	ENSG00000188976			24517	protein-coding gene	gene with protein product	"""novel INHAT repressor"", ""protein phosphatase 1, regulatory subunit 12"""	610770					Standard	NM_015658		Approved	DKFZP564C186, NET7, NET15, NIR, PPP1R112	uc001abz.4	Q9Y3T9	OTTHUMG00000040720	ENST00000327044.6:c.823C>T	1.37:g.889227G>A	ENSP00000317992:p.Arg275Trp						p.R275W	NM_015658.3	NP_056473.2	Q9Y3T9	NOC2L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	8	872	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	275					Q5SVA3|Q9BTN6	Missense_Mutation	SNP	ENST00000327044.6	37	c.823C>T	CCDS3.1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.460554	0.43736	2.27E-4	1.16E-4	ENSG00000188976	ENST00000327044	T	0.24723	1.84	4.28	4.28	0.50868	Armadillo-type fold (1);	0.410909	0.25238	N	0.032113	T	0.22589	0.0545	L	0.33485	1.01	0.25940	N	0.982882	B;B;B	0.18863	0.031;0.014;0.031	B;B;B	0.16722	0.016;0.006;0.016	T	0.19910	-1.0291	10	0.59425	D	0.04	-17.7383	15.865	0.79057	0.0:0.0:1.0:0.0	.	275;275;42	B3KNC3;Q9Y3T9;Q9H9J5	.;NOC2L_HUMAN;.	W	275	ENSP00000317992:R275W	ENSP00000317992:R275W	R	-	1	2	NOC2L	879090	0.995000	0.38212	0.201000	0.23476	0.059000	0.15707	3.798000	0.55522	2.217000	0.71921	0.305000	0.20034	CGG		0.617	NOC2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097869.1	NM_015658		7	236	0	0	0	1	0	7	236				
ZNF473	25888	broad.mit.edu	37	19	50548807	50548807	+	Silent	SNP	C	C	T	rs148474136	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:50548807C>T	ENST00000595661.1	+	6	1602	c.1107C>T	c.(1105-1107)caC>caT	p.H369H	CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.H369H|ZNF473_ENST00000445728.3_Silent_p.H357H|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.H369H			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	369	Interaction with SLBP/pre-mRNA complex.				gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		AGAAAACTCACGCTGCAAAAA	0.498																																						ENST00000595661.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1105-1107)caC>caT		zinc finger protein 473		C	,	4,4402	8.1+/-20.4	0,4,2199	72.0	67.0	68.0		1107,1107	0.7	0.0	19	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF473	NM_001006656.1,NM_015428.1	,	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	,	369/872,369/872	50548807	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	25888				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding	g.chr19:50548807C>T	AB032967	CCDS33077.1	19q13.33	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	23239	protein-coding gene	gene with protein product						11782445	Standard	NM_015428		Approved	KIAA1141, DKFZP434N043, HZFP100	uc002prn.3	Q8WTR7		ENST00000595661.1:c.1107C>T	19.37:g.50548807C>T						CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Silent_p.H369H|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000270617.3_Silent_p.H369H|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Silent_p.H357H	p.H369H			Q8WTR7	ZN473_HUMAN		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)	6	1602	+		all_neural(266;0.0459)|Ovarian(192;0.0728)	369			Interaction with SLBP/pre-mRNA complex.		A8K8T7|Q9ULS9|Q9Y4Q7	Silent	SNP	ENST00000595661.1	37	c.1107C>T	CCDS33077.1																																																																																				0.498	ZNF473-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464833.1	XM_046390		16	429	0	0	0	1	0	16	429				
ZNF549	256051	broad.mit.edu	37	19	58049499	58049499	+	Missense_Mutation	SNP	G	G	A	rs546163846		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58049499G>A	ENST00000376233.3	+	4	1308	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R363H|ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	376					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCTATGACCGCATTCGACAC	0.433																																						ENST00000376233.3																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						c.(1126-1128)cGc>cAc		zinc finger protein 549							67.0	63.0	64.0					19																	58049499		2203	4300	6503	SO:0001583	missense	256051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58049499G>A	AK092236	CCDS12952.1, CCDS56106.1	19q13.43	2013-01-08				ENSG00000121406		"""Zinc fingers, C2H2-type"", ""-"""	26632	protein-coding gene	gene with protein product						12477932	Standard	NM_153263		Approved	FLJ34917	uc002qpb.2	Q6P9A3		ENST00000376233.3:c.1127G>A	19.37:g.58049499G>A	ENSP00000365407:p.Arg376His					ZNF549_ENST00000602149.1_Intron|ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000594943.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R363H	p.R376H	NM_001199295.1	NP_001186224.1	Q6P9A3	ZN549_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1308	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	376					B3KV91|O43336|Q8NAR4	Missense_Mutation	SNP	ENST00000376233.3	37	c.1127G>A	CCDS56106.1	.	.	.	.	.	.	.	.	.	.	G	14.17	2.456252	0.43634	.	.	ENSG00000121406	ENST00000240719;ENST00000376233	T;T	0.15139	2.45;2.45	2.64	-5.28	0.02755	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16471	0.0396	M	0.73598	2.24	0.09310	N	1	B;B	0.18863	0.0;0.031	B;B	0.12156	0.0;0.007	T	0.39623	-0.9605	9	0.87932	D	0	.	4.6998	0.12822	0.3606:0.0:0.142:0.4974	.	376;363	Q6P9A3;Q6P9A3-2	ZN549_HUMAN;.	H	363;376	ENSP00000240719:R363H;ENSP00000365407:R376H	ENSP00000240719:R363H	R	+	2	0	ZNF549	62741311	0.001000	0.12720	0.000000	0.03702	0.575000	0.36095	0.804000	0.27098	-1.086000	0.03084	-0.350000	0.07774	CGC		0.433	ZNF549-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466780.1	NM_153263		5	317	0	0	0	1	0	5	317				
GABRR2	2570	broad.mit.edu	37	6	89974189	89974189	+	Missense_Mutation	SNP	G	G	A	rs149245573		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:89974189G>A	ENST00000402938.3	-	8	1161	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V	GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	343					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A343V(3)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)	Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GTTGACAGCCGCATACTCCAG	0.597													G|||	1	0.000199681	0.0	0.0	5008	,	,		20743	0.0		0.001	False		,,,				2504	0.0					ENST00000402938.3																			3	Substitution - Missense(3)	p.A343V(3)	prostate(2)|lung(1)	central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21						c.(1027-1029)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, rho 2							116.0	88.0	97.0					6																	89974189		2203	4300	6503	SO:0001583	missense	2570				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr6:89974189G>A		CCDS5020.2, CCDS5020.3	6q15	2012-06-22	2012-02-03		ENSG00000111886	ENSG00000111886		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4091	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 2"""	137162	"""gamma-aminobutyric acid (GABA) receptor, rho 2"""			1315307	Standard	NM_002043		Approved		uc003pnb.3	P28476	OTTHUMG00000015198	ENST00000402938.3:c.1028C>T	6.37:g.89974189G>A	ENSP00000386029:p.Ala343Val					GABRR2_ENST00000602399.1_Missense_Mutation_p.A368V	p.A343V			P28476	GBRR2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0158)	8	1161	-		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)	368					A2BDE4|Q9H153	Missense_Mutation	SNP	ENST00000402938.3	37	c.1028C>T	CCDS5020.3	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	36	5.780845	0.96929	.	.	ENSG00000111886	ENST00000402938	.	.	.	5.93	5.93	0.95920	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.82015	0.4945	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81116	-0.1079	8	.	.	.	.	20.3437	0.98782	0.0:0.0:1.0:0.0	.	368	P28476	GBRR2_HUMAN	V	368	.	.	A	-	2	0	GABRR2	90030908	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	9.869000	0.99810	2.815000	0.96918	0.561000	0.74099	GCG		0.597	GABRR2-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041482.3			4	222	0	0	0	1	0	4	222				
MUC5B	727897	broad.mit.edu	37	11	1266085	1266085	+	Missense_Mutation	SNP	C	C	G	rs556090358	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:1266085C>G	ENST00000529681.1	+	31	8033	c.7975C>G	c.(7975-7977)Ccc>Gcc	p.P2659A	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.P2662A	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2659	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.|P -> A (in Ref. 4; CAA96577). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.P2638A(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACCCACACCCCCACAGTGCT	0.617													C|||	60	0.0119808	0.0174	0.0072	5008	,	,		19640	0.0		0.0209	False		,,,				2504	0.0112					ENST00000447027.1																			1	Substitution - Missense(1)	p.P2638A(1)	skin(1)	cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(7984-7986)Ccc>Gcc		mucin 5B, oligomeric mucus/gel-forming							98.0	124.0	116.0					11																	1266085		2044	4160	6204	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266085C>G	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.7975C>G	11.37:g.1266085C>G	ENSP00000436812:p.Pro2659Ala					RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A	p.P2662A			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8042	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2659	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	c.7984C>G	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	C	0.028	-1.355741	0.01245	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.21361	2.01;2.2	2.53	-5.06	0.02946	.	.	.	.	.	T	0.12987	0.0315	L	0.41710	1.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.20739	-1.0266	9	0.87932	D	0	.	1.5835	0.02639	0.3418:0.1308:0.3464:0.181	.	3297;2662	A7Y9J9;E9PBJ0	.;.	A	2659;2662;2631;2674	ENSP00000436812:P2659A;ENSP00000415793:P2662A	ENSP00000343037:P2631A	P	+	1	0	MUC5B	1222661	0.591000	0.26824	0.000000	0.03702	0.025000	0.11179	0.025000	0.13577	-4.187000	0.00066	-0.982000	0.02568	CCC		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		4	240	0	0	0	1	0	4	240				
KIF1A	547	broad.mit.edu	37	2	241679772	241679772	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:241679772C>T	ENST00000320389.7	-	34	3614	c.3456G>A	c.(3454-3456)ccG>ccA	p.P1152P	KIF1A_ENST00000498729.2_Silent_p.P1253P	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1152					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCACCACGGCCGGGATGTAAC	0.652																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(3757-3759)ccG>ccA		kinesin family member 1A							64.0	73.0	70.0					2																	241679772		2053	4188	6241	SO:0001819	synonymous_variant	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241679772C>T	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.3456G>A	2.37:g.241679772C>T						KIF1A_ENST00000320389.7_Silent_p.P1152P	p.P1253P	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	36	4005	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	1152					B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Silent	SNP	ENST00000320389.7	37	c.3759G>A	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	C	8.323	0.824643	0.16678	.	.	ENSG00000130294	ENST00000431776	.	.	.	4.3	-8.6	0.00889	.	.	.	.	.	T	0.32466	0.0830	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.38628	-0.9652	4	.	.	.	.	0.4882	0.00559	0.3187:0.2189:0.1339:0.3285	.	.	.	.	Q	76	.	.	R	-	2	0	KIF1A	241328445	0.000000	0.05858	0.332000	0.25469	0.904000	0.53231	-1.756000	0.01813	-2.439000	0.00551	-1.728000	0.00702	CGG		0.652	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		73	215	0	0	0	1	0	73	215				
ISLR2	57611	broad.mit.edu	37	15	74426584	74426584	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:74426584G>A	ENST00000361742.3	+	4	2258	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	ISLR2_ENST00000435464.1_Missense_Mutation_p.E497K|ISLR2_ENST00000445793.1_Missense_Mutation_p.E497K|ISLR2_ENST00000453268.2_Missense_Mutation_p.E497K|ISLR2_ENST00000565540.1_Missense_Mutation_p.E497K|ISLR2_ENST00000419208.1_Missense_Mutation_p.E497K|ISLR2_ENST00000565159.1_Missense_Mutation_p.E497K|ISLR2_ENST00000561975.1_Intron	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	497					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGCGGAGCGCGAGGCGCGGGT	0.731																																						ENST00000361742.3																			0				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						c.(1489-1491)Gag>Aag		immunoglobulin superfamily containing leucine-rich repeat 2							12.0	12.0	12.0					15																	74426584		2192	4284	6476	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74426584G>A		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.1489G>A	15.37:g.74426584G>A	ENSP00000355402:p.Glu497Lys					ISLR2_ENST00000565159.1_Missense_Mutation_p.E497K|ISLR2_ENST00000419208.1_Missense_Mutation_p.E497K|ISLR2_ENST00000453268.2_Missense_Mutation_p.E497K|ISLR2_ENST00000445793.1_Missense_Mutation_p.E497K|ISLR2_ENST00000565540.1_Missense_Mutation_p.E497K|ISLR2_ENST00000435464.1_Missense_Mutation_p.E497K|ISLR2_ENST00000561975.1_Intron	p.E497K	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN			4	2258	+			497					A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.1489G>A	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.082884	0.76642	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.59083	0.29;0.29;0.29;0.29;0.29	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	T	0.41351	0.1155	L	0.27053	0.805	0.58432	D	0.999995	P	0.48407	0.91	B	0.32805	0.153	T	0.51787	-0.8661	10	0.56958	D	0.05	.	16.6691	0.85261	0.0:0.0:1.0:0.0	.	497	Q6UXK2	ISLR2_HUMAN	K	497	ENSP00000403244:E497K;ENSP00000355402:E497K;ENSP00000411443:E497K;ENSP00000411834:E497K;ENSP00000408872:E497K	ENSP00000355402:E497K	E	+	1	0	ISLR2	72213637	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	6.347000	0.73004	2.223000	0.72356	0.313000	0.20887	GAG		0.731	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		16	33	0	0	0	1	0	16	33				
NELL1	4745	broad.mit.edu	37	11	20968881	20968881	+	Splice_Site	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:20968881G>T	ENST00000357134.5	+	11	1223		c.e11-1		NELL1_ENST00000325319.5_Splice_Site|NELL1_ENST00000298925.5_Splice_Site|NELL1_ENST00000532434.1_Splice_Site	NM_006157.3|NM_201551.1	NP_006148.2|NP_963845.1	Q92832	NELL1_HUMAN	NEL-like 1 (chicken)						cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|nervous system development (GO:0007399)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TTGGCTTCCAGGGTGGAGTTT	0.368																																						ENST00000298925.5																			0				NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						c.e12-1		NEL-like 1 (chicken)							91.0	94.0	93.0					11																	20968881		2203	4300	6503	SO:0001630	splice_region_variant	4745				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	g.chr11:20968881G>T	AK127805	CCDS7855.1, CCDS44555.1, CCDS73267.1, CCDS73268.1	11p15.1	2008-02-01	2001-11-28		ENSG00000165973	ENSG00000165973			7750	protein-coding gene	gene with protein product		602319	"""nel (chicken)-like 1"""			8975702	Standard	NM_006157		Approved	IDH3GL, FLJ45906	uc001mqe.3	Q92832	OTTHUMG00000166042	ENST00000357134.5:c.1072-1G>T	11.37:g.20968881G>T						NELL1_ENST00000532434.1_Splice_Site|NELL1_ENST00000357134.5_Splice_Site|NELL1_ENST00000325319.5_Splice_Site				Q92832	NELL1_HUMAN			12	1308	+								B2CKC1|Q4VB90|Q4VB91|Q6NSY8|Q9Y472	Splice_Site	SNP	ENST00000357134.5	37		CCDS7855.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010372	0.75046	.	.	ENSG00000165973	ENST00000298925;ENST00000357134;ENST00000325319;ENST00000532434	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0599	0.93085	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NELL1	20925457	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.847000	0.75404	2.941000	0.99782	0.655000	0.94253	.		0.368	NELL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387588.1	NM_006157	Intron	43	463	1	0	7.05121e-23	1	7.51946e-23	43	463				
MYOM1	8736	broad.mit.edu	37	18	3188908	3188908	+	Silent	SNP	T	T	C	rs562448650	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:3188908T>C	ENST00000356443.4	-	4	942	c.609A>G	c.(607-609)acA>acG	p.T203T	MYOM1_ENST00000400569.3_Silent_p.T203T|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Silent_p.T203T	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	203	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.T203T(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTTGGATGCTGTGGACTGCT	0.532													T|||	3	0.000599042	0.0008	0.0014	5008	,	,		15502	0.0		0.0	False		,,,				2504	0.001					ENST00000400569.3																			1	Substitution - coding silent(1)	p.T203T(1)	kidney(1)	NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(607-609)acA>acG		myomesin 1							299.0	284.0	289.0					18																	3188908		2069	4192	6261	SO:0001819	synonymous_variant	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3188908T>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.609A>G	18.37:g.3188908T>C						MYOM1_ENST00000356443.4_Silent_p.T203T|MYOM1_ENST00000261606.7_Silent_p.T203T	p.T203T			P52179	MYOM1_HUMAN			4	942	-			203			6 X 6 AA tandem repeats.		Q14BD6|Q6H969|Q6ZUU0	Silent	SNP	ENST00000356443.4	37	c.609A>G	CCDS45824.1																																																																																				0.532	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803		5	450	0	0	0	1	0	5	450				
PTPRE	5791	broad.mit.edu	37	10	129871718	129871718	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:129871718G>T	ENST00000254667.3	+	17	1861	c.1582G>T	c.(1582-1584)Gtg>Ttg	p.V528L	PTPRE_ENST00000419012.2_Missense_Mutation_p.V528L|PTPRE_ENST00000306042.5_Missense_Mutation_p.V470L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	528	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	GCTGACGGAGGTGCAGGAGAG	0.597																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1582-1584)Gtg>Ttg		protein tyrosine phosphatase, receptor type, E							99.0	84.0	89.0					10																	129871718		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129871718G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1582G>T	10.37:g.129871718G>T	ENSP00000254667:p.Val528Leu					PTPRE_ENST00000419012.2_Missense_Mutation_p.V528L|PTPRE_ENST00000306042.5_Missense_Mutation_p.V470L	p.V528L	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			17	1861	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	528			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1582G>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	1.142	-0.649108	0.03506	.	.	ENSG00000132334	ENST00000254667;ENST00000439034;ENST00000419012;ENST00000306042	T;T;T	0.09538	2.97;2.97;2.97	4.75	2.82	0.32997	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.089012	0.46758	D	0.000262	T	0.01489	0.0048	N	0.00047	-2.435	0.80722	D	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.001;0.002	T	0.42137	-0.9469	10	0.02654	T	1	.	8.7131	0.34395	0.0777:0.286:0.6363:0.0	.	506;528;470;528	F5H0X4;Q5VWH4;P23469-2;P23469	.;.;.;PTPRE_HUMAN	L	528;506;528;470	ENSP00000254667:V528L;ENSP00000402337:V528L;ENSP00000303350:V470L	ENSP00000254667:V528L	V	+	1	0	PTPRE	129761708	1.000000	0.71417	0.989000	0.46669	0.609000	0.37215	2.058000	0.41374	0.557000	0.29117	0.563000	0.77884	GTG		0.597	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			32	156	1	0	3.76114e-14	1	3.93406e-14	32	156				
ZNF480	147657	broad.mit.edu	37	19	52817449	52817449	+	Missense_Mutation	SNP	C	C	T	rs201346974	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52817449C>T	ENST00000595962.1	+	3	182	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF480_ENST00000334564.7_Missense_Mutation_p.A39V|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000490272.1_Intron	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	39	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		TTCTCTCAGGCGGAGTGGAAA	0.473													c|||	3	0.000599042	0.0	0.0	5008	,	,		16201	0.0		0.0	False		,,,				2504	0.0031					ENST00000595962.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(115-117)gCg>gTg		zinc finger protein 480		C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	179.0	149.0	159.0		116	0.9	0.3	19		159	0,8600		0,0,4300	no	missense	ZNF480	NM_144684.2	64	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	39/536	52817449	1,13005	2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52817449C>T	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.116C>T	19.37:g.52817449C>T	ENSP00000471754:p.Ala39Val					ZNF480_ENST00000490272.1_Intron|ZNF480_ENST00000335090.6_Intron|ZNF480_ENST00000334564.7_Missense_Mutation_p.A39V|CTD-2525I3.6_ENST00000594379.1_RNA	p.A39V	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	3	182	+			39			KRAB.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.116C>T	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	C	5.169	0.216831	0.09810	2.27E-4	0.0	ENSG00000198464	ENST00000354515;ENST00000468240;ENST00000334564	T;T	0.01725	4.67;4.67	2.04	0.945	0.19543	Krueppel-associated box (4);	.	.	.	.	T	0.01695	0.0054	L	0.46157	1.445	0.22933	N	0.998546	P;B	0.40476	0.718;0.161	B;B	0.30782	0.038;0.12	T	0.47484	-0.9114	9	0.66056	D	0.02	.	6.0962	0.20021	0.7277:0.2723:0.0:0.0	.	39;39	F8WEZ9;Q8WV37	.;ZN480_HUMAN	V	61;39;39	ENSP00000417424:A39V;ENSP00000334164:A39V	ENSP00000334164:A39V	A	+	2	0	ZNF480	57509261	0.981000	0.34729	0.315000	0.25238	0.071000	0.16799	0.684000	0.25364	0.048000	0.15891	-0.602000	0.04101	GCG		0.473	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		77	641	0	0	0	1	0	77	641				
ZC3H7A	29066	broad.mit.edu	37	16	11859420	11859420	+	Silent	SNP	G	G	A	rs374785670		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:11859420G>A	ENST00000396516.2	-	13	1841	c.1644C>T	c.(1642-1644)ggC>ggT	p.G548G	ZC3H7A_ENST00000355758.4_Silent_p.G548G			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	548						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TTCCATTGCCGCCAAAGAAAG	0.453																																						ENST00000396516.2																			0				breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						c.(1642-1644)ggC>ggT		zinc finger CCCH-type containing 7A		G		0,4394		0,0,2197	97.0	95.0	95.0		1644	1.0	1.0	16		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ZC3H7A	NM_014153.3		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		548/972	11859420	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	29066					nucleus	nucleic acid binding|zinc ion binding	g.chr16:11859420G>A	AF161540	CCDS10550.1	16p13-p12	2013-01-11	2005-06-02	2005-06-08	ENSG00000122299	ENSG00000122299		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30959	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 7"", ""zinc finger CCCH-type containing 7"""	ZC3HDC7, ZC3H7		11042152	Standard	NM_014153		Approved	HSPC055, FLJ20318	uc002dbl.3	Q8IWR0	OTTHUMG00000129825	ENST00000396516.2:c.1644C>T	16.37:g.11859420G>A						ZC3H7A_ENST00000355758.4_Silent_p.G548G	p.G548G			Q8IWR0	Z3H7A_HUMAN			13	1841	-			548					D3DUG5|Q9NPE9	Silent	SNP	ENST00000396516.2	37	c.1644C>T	CCDS10550.1																																																																																				0.453	ZC3H7A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437066.1	NM_014153		5	502	0	0	0	1	0	5	502				
KRTAP5-1	387264	broad.mit.edu	37	11	1605916	1605916	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:1605916A>G	ENST00000382171.2	-	1	597	c.564T>C	c.(562-564)ggT>ggC	p.G188G	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	188	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCACAAGAACCGCAGCCCC	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(562-564)ggT>ggC		keratin associated protein 5-1							39.0	52.0	47.0					11																	1605916		2202	4298	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1605916A>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.564T>C	11.37:g.1605916A>G						KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.G188G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	597	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	188			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.564T>C	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		5	469	0	0	0	1	0	5	469				
ADAMTS16	170690	broad.mit.edu	37	5	5191804	5191804	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:5191804C>T	ENST00000274181.7	+	8	1352	c.1214C>T	c.(1213-1215)gCa>gTa	p.A405V	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.A405V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	405	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ACAGGATTTGCACCCATAAGT	0.388																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1213-1215)gCa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 16							139.0	130.0	133.0					5																	5191804		1910	4121	6031	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5191804C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1214C>T	5.37:g.5191804C>T	ENSP00000274181:p.Ala405Val					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.A405V	p.A405V	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			8	1352	+			405			Peptidase M12B.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1214C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.870816	0.91587	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	D;D	0.95656	-3.77;-3.77	4.74	4.74	0.60224	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.98629	0.9541	H	0.97783	4.075	0.80722	D	1	D;D;D	0.89917	0.992;1.0;0.995	D;D;D	0.75020	0.939;0.985;0.976	D	0.99818	1.1045	10	0.87932	D	0	.	16.5194	0.84309	0.0:1.0:0.0:0.0	.	405;405;405	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	V	405	ENSP00000274181:A405V;ENSP00000421631:A405V	ENSP00000274181:A405V	A	+	2	0	ADAMTS16	5244804	1.000000	0.71417	0.952000	0.39060	0.889000	0.51656	7.324000	0.79115	2.186000	0.69663	0.655000	0.94253	GCA		0.388	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		6	611	0	0	0	1	0	6	611				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		6	166	0	0	0	1	0	6	166				
MAML3	55534	broad.mit.edu	37	4	140811099	140811099	+	Splice_Site	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:140811099C>T	ENST00000398940.1	-	1	107	c.108G>A	c.(106-108)caG>caA	p.Q36Q	MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q					mastermind-like 3 (Drosophila)									p.Q497Q(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					gctgctgctgctgctgctgct	0.542																																						ENST00000398940.1																			2	Substitution - coding silent(2)	p.Q497Q(2)	prostate(2)	breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.e1+1		mastermind-like 3 (Drosophila)							13.0	19.0	17.0					4																	140811099		2117	4226	6343	SO:0001630	splice_region_variant	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811099C>T	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000398940.1:c.108+1G>A	4.37:g.140811099C>T						MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q	p.Q36_splice			Q96JK9	MAML3_HUMAN			1	107	-	all_hematologic(180;0.162)		497						Splice_Site	SNP	ENST00000398940.1	37	c.108_splice																																																																																					0.542	MAML3-202	KNOWN	basic	protein_coding	protein_coding			Silent	5	221	0	0	0	1	0	5	221				
ADAMTS12	81792	broad.mit.edu	37	5	33576636	33576636	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:33576636C>A	ENST00000504830.1	-	19	3830	c.3495G>T	c.(3493-3495)caG>caT	p.Q1165H	ADAMTS12_ENST00000504582.1_5'Flank|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1080H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1165	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGTCCTCAGGCTGTTCTCTTT	0.473										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3493-3495)caG>caT		ADAM metallopeptidase with thrombospondin type 1 motif, 12							179.0	163.0	168.0					5																	33576636		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576636C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3495G>T	5.37:g.33576636C>A	ENSP00000422554:p.Gln1165His	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.Q1080H	p.Q1165H	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3830	-			1165			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3495G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	5.753	0.323334	0.10900	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60171	0.22;0.21	5.28	-0.364	0.12553	.	1.070710	0.07089	N	0.838451	T	0.50497	0.1619	L	0.32530	0.975	0.09310	N	1	P;P	0.46220	0.874;0.8	P;B	0.48141	0.568;0.365	T	0.43540	-0.9385	10	0.15499	T	0.54	.	9.923	0.41474	0.0:0.5766:0.0:0.4234	.	1080;1165	P58397-3;P58397	.;ATS12_HUMAN	H	1165;1080	ENSP00000422554:Q1165H;ENSP00000344847:Q1080H	ENSP00000344847:Q1080H	Q	-	3	2	ADAMTS12	33612393	0.000000	0.05858	0.000000	0.03702	0.070000	0.16714	0.263000	0.18478	0.012000	0.14892	0.655000	0.94253	CAG		0.473	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		86	428	1	0	1.16018e-38	1	1.2519e-38	86	428				
GALNT5	11227	broad.mit.edu	37	2	158157422	158157422	+	Nonsense_Mutation	SNP	C	C	T	rs187784514		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:158157422C>T	ENST00000259056.4	+	7	2835	c.2350C>T	c.(2350-2352)Cga>Tga	p.R784*	GALNT5_ENST00000463418.1_3'UTR|RN7SKP281_ENST00000410472.1_RNA	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	784					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R784*(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAGGGAGCTGCGAAAGAAACT	0.493													C|||	1	0.000199681	0.0	0.0	5008	,	,		18276	0.0		0.001	False		,,,				2504	0.0					ENST00000259056.4																			1	Substitution - Nonsense(1)	p.R784*(1)	endometrium(1)	breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						c.(2350-2352)Cga>Tga		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)		C	stop/ARG	0,4406		0,0,2203	102.0	96.0	98.0		2350	5.5	1.0	2		98	4,8596	3.7+/-12.6	0,4,4296	yes	stop-gained	GALNT5	NM_014568.1		0,4,6499	TT,TC,CC		0.0465,0.0,0.0308		784/941	158157422	4,13002	2203	4300	6503	SO:0001587	stop_gained	11227				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:158157422C>T	AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.2350C>T	2.37:g.158157422C>T	ENSP00000259056:p.Arg784*					GALNT5_ENST00000463418.1_3'UTR	p.R784*	NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN			7	2835	+			784					A5PKZ1|Q9UGK7|Q9UHL6	Nonsense_Mutation	SNP	ENST00000259056.4	37	c.2350C>T	CCDS2203.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	45	11.896958	0.99615	0.0	4.65E-4	ENSG00000136542	ENST00000259056	.	.	.	5.54	5.54	0.83059	.	0.059008	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.7937	0.57549	0.2814:0.7186:0.0:0.0	.	.	.	.	X	784	.	ENSP00000259056:R784X	R	+	1	2	GALNT5	157865668	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	1.927000	0.40094	2.598000	0.87819	0.563000	0.77884	CGA		0.493	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568		17	190	0	0	0	1	0	17	190				
FDX1L	112812	broad.mit.edu	37	19	10428271	10428271	+	5'Flank	SNP	T	T	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:10428271T>A	ENST00000393708.3	-	0	0				FDX1L_ENST00000492239.1_5'Flank|FDX1L_ENST00000541276.1_5'Flank|FDX1L_ENST00000494368.1_5'Flank|RAVER1_ENST00000293677.6_Silent_p.P710P|CTD-2369P2.10_ENST00000452032.2_5'Flank|CTD-2369P2.12_ENST00000586529.1_Silent_p.P111P	NM_001031734.2	NP_001026904.1	Q6P4F2	ADXL_HUMAN	ferredoxin 1-like						oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			NS(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(20;9.5e-10)|Epithelial(33;2.11e-06)|all cancers(31;5.06e-06)			GGCCGCCCAGTGGGGTCTGGA	0.736																																						ENST00000293677.6																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18						c.(2128-2130)ccA>ccT		ribonucleoprotein, PTB-binding 1							14.0	16.0	15.0					19																	10428271		1891	4078	5969	SO:0001631	upstream_gene_variant	125950					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding	g.chr19:10428271T>A	AK097022	CCDS32905.1	19p13.2	2012-10-09			ENSG00000267673	ENSG00000267673			30546	protein-coding gene	gene with protein product		614585				12477932	Standard	NM_001031734		Approved	MGC19604	uc002mny.1	Q6P4F2	OTTHUMG00000141299		19.37:g.10428271T>A	Exception_encountered					CTD-2369P2.12_ENST00000586529.1_Silent_p.P111P	p.P710P	NM_133452.2	NP_597709.2	Q8IY67	RAVR1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)		13	2211	-			537					Q8N8B8	Silent	SNP	ENST00000393708.3	37	c.2130A>T	CCDS32905.1	.	.	.	.	.	.	.	.	.	.	T	12.32	1.901402	0.33535	.	.	ENSG00000161847	ENST00000331131	.	.	.	5.15	-10.3	0.00346	.	.	.	.	.	T	0.36580	0.0972	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09250	-1.0683	7	0.59425	D	0.04	-4.598	6.2772	0.20987	0.0844:0.2019:0.505:0.2088	.	567	Q8IY67	RAVR1_HUMAN	L	567	.	ENSP00000327543:H567L	H	-	2	0	RAVER1	10289271	0.052000	0.20516	0.853000	0.33588	0.985000	0.73830	-1.405000	0.02492	-1.698000	0.01418	0.459000	0.35465	CAC		0.736	FDX1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280567.2			29	90	0	0	0	1	0	29	90				
OR51A4	401666	broad.mit.edu	37	11	4967530	4967530	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:4967530C>T	ENST00000380373.2	-	1	826	c.801G>A	c.(799-801)cgG>cgA	p.R267R	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	267			R -> G (in dbSNP:rs2595988).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGAGACATGCCGGGCAAAGC	0.448																																						ENST00000380373.2																			0				large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29						c.(799-801)cgG>cgA		olfactory receptor, family 51, subfamily A, member 4							174.0	167.0	169.0					11																	4967530		2200	4298	6498	SO:0001819	synonymous_variant	401666				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4967530C>T	AB065798	CCDS31367.1	11p15.4	2012-08-09			ENSG00000205497	ENSG00000205497		"""GPCR / Class A : Olfactory receptors"""	14795	protein-coding gene	gene with protein product							Standard	NM_001005329		Approved		uc010qys.2	Q8NGJ6	OTTHUMG00000066614	ENST00000380373.2:c.801G>A	11.37:g.4967530C>T						MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	p.R267R	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	826	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)	267		R -> G (in dbSNP:rs2595988).				Silent	SNP	ENST00000380373.2	37	c.801G>A	CCDS31367.1																																																																																				0.448	OR51A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142821.1	NM_001005329		6	835	0	0	0	1	0	6	835				
CIC	23152	broad.mit.edu	37	19	42795450	42795450	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42795450C>G	ENST00000575354.2	+	10	2570	c.2530C>G	c.(2530-2532)Cca>Gca	p.P844A	CIC_ENST00000572681.2_Missense_Mutation_p.P1753A|CIC_ENST00000160740.3_Missense_Mutation_p.P844A	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	844	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCCCAGCACCAGCCCCTGG	0.672			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		0				autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(5257-5259)Cca>Gca		capicua transcriptional repressor							16.0	17.0	17.0					19																	42795450		2168	4216	6384	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42795450C>G	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.2530C>G	19.37:g.42795450C>G	ENSP00000458663:p.Pro844Ala					CIC_ENST00000575354.2_Missense_Mutation_p.P844A|CIC_ENST00000160740.3_Missense_Mutation_p.P844A	p.P1753A			Q96RK0	CIC_HUMAN			11	5325	+		Prostate(69;0.00682)	844					Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.5257C>G	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	12.46	1.943409	0.34283	.	.	ENSG00000079432	ENST00000160740	.	.	.	5.16	1.44	0.22558	.	.	.	.	.	T	0.23210	0.0561	N	0.08118	0	0.26798	N	0.96927	B	0.02656	0.0	B	0.04013	0.001	T	0.23583	-1.0184	8	0.87932	D	0	-1.575	9.4699	0.38835	0.1253:0.4976:0.3771:0.0	.	844	Q96RK0	CIC_HUMAN	A	844	.	ENSP00000160740:P844A	P	+	1	0	CIC	47487290	0.986000	0.35501	1.000000	0.80357	0.990000	0.78478	0.581000	0.23819	0.537000	0.28751	0.561000	0.74099	CCA		0.672	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			8	241	0	0	0	1	0	8	241				
KRT17	3872	broad.mit.edu	37	17	39780468	39780468	+	Silent	SNP	G	G	A	rs267607416|rs57674130|rs267607414		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:39780468G>A	ENST00000311208.8	-	1	361	c.294C>T	c.(292-294)taC>taT	p.Y98Y	KRT42P_ENST00000438131.1_RNA|JUP_ENST00000540235.1_Intron	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	98	Coil 1A.|Rod.		Missing (in PC2).|Y -> D (in PC2). {ECO:0000269|PubMed:9008238}.	Missing (in Ref. 5; AAH72018). {ECO:0000305}.	epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				CCTTGTCCAGGTAGGAGGCCA	0.637																																					Pancreas(92;1242 2086 39193 50508)	ENST00000311208.8																			0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12						c.(292-294)taC>taT		keratin 17							91.0	99.0	96.0					17																	39780468		2203	4298	6501	SO:0001819	synonymous_variant	3872				epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39780468G>A	X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.294C>T	17.37:g.39780468G>A						JUP_ENST00000540235.1_Intron	p.Y98Y	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN			1	361	-		Breast(137;0.000307)	98	Missing (in Ref. 5; AAH72018).	Missing (in PC2).|Y -> D (in PC2).	Coil 1A.|Rod.		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Silent	SNP	ENST00000311208.8	37	c.294C>T	CCDS11402.1																																																																																				0.637	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257460.1	NM_000422		6	970	0	0	0	1	0	6	970				
HECW2	57520	broad.mit.edu	37	2	197135945	197135945	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197135945G>A	ENST00000260983.3	-	17	3489	c.3307C>T	c.(3307-3309)Cct>Tct	p.P1103S	HECW2_ENST00000409111.1_Missense_Mutation_p.P747S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1103					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GTAAGATCAGGTTGACGCTCC	0.328																																						ENST00000260983.2																			0				biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						c.(3307-3309)Cct>Tct		HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2							86.0	83.0	84.0					2																	197135945		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197135945G>A	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3307C>T	2.37:g.197135945G>A	ENSP00000260983:p.Pro1103Ser					HECW2_ENST00000409111.1_Missense_Mutation_p.P747S	p.P1103S	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN			17	3489	-			1103					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.3307C>T	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186065	0.78789	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.84660	-1.88;-1.88	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85911	0.5807	L	0.51422	1.61	0.80722	D	1	D	0.57899	0.981	P	0.49140	0.601	T	0.82764	-0.0296	10	0.22706	T	0.39	.	19.8791	0.96888	0.0:0.0:1.0:0.0	.	1103	Q9P2P5	HECW2_HUMAN	S	747;1103	ENSP00000386775:P747S;ENSP00000260983:P1103S	ENSP00000260983:P1103S	P	-	1	0	HECW2	196844190	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.821000	0.99360	2.706000	0.92434	0.467000	0.42956	CCT		0.328	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		20	186	0	0	0	1	0	20	186				
MCHR1	2847	broad.mit.edu	37	22	41077637	41077637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:41077637G>A	ENST00000249016.4	+	2	1670	c.974G>A	c.(973-975)cGc>cAc	p.R325H	MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R199H	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	325					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|hormone binding (GO:0042562)|melanin-concentrating hormone receptor activity (GO:0030273)|neuropeptide receptor activity (GO:0008188)			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						AGGGTGACCCGCACAGCCATC	0.617																																						ENST00000249016.4																			0				endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						c.(973-975)cGc>cAc		melanin-concentrating hormone receptor 1							91.0	74.0	79.0					22																	41077637		2203	4300	6503	SO:0001583	missense	0				elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity	g.chr22:41077637G>A		CCDS14004.1	22q13.3	2014-06-05	2006-02-15	2006-02-15	ENSG00000128285	ENSG00000128285		"""GPCR / Class A : MCH receptors"""	4479	protein-coding gene	gene with protein product		601751	"""G protein-coupled receptor 24"""	GPR24			Standard	XM_005261581		Approved	SLC1, MCH1R	uc003ayz.3	Q99705	OTTHUMG00000150256	ENST00000249016.4:c.974G>A	22.37:g.41077637G>A	ENSP00000249016:p.Arg325His					MCHR1_ENST00000498400.1_3'UTR|MCHR1_ENST00000381433.2_Missense_Mutation_p.R199H	p.R325H	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN			2	1670	+			325					B2RBX6|Q5R3J1|Q96S47|Q9BV08	Missense_Mutation	SNP	ENST00000249016.4	37	c.974G>A	CCDS14004.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.747866	0.89663	.	.	ENSG00000128285	ENST00000249016;ENST00000381433	T;T	0.40225	1.04;1.04	5.24	5.24	0.73138	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.85630	2.765	0.51233	D	0.999918	D	0.89917	1.0	D	0.91635	0.999	T	0.73344	-0.4012	10	0.62326	D	0.03	.	16.6948	0.85332	0.0:0.0:1.0:0.0	.	325	Q99705	MCHR1_HUMAN	H	325;199	ENSP00000249016:R325H;ENSP00000370841:R199H	ENSP00000249016:R325H	R	+	2	0	MCHR1	39407583	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.679000	0.74513	2.607000	0.88179	0.655000	0.94253	CGC		0.617	MCHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317142.1	NM_005297		6	393	0	0	0	1	0	6	393				
FBXL7	23194	broad.mit.edu	37	5	15928366	15928366	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:15928366C>T	ENST00000504595.1	+	3	976	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FBXL7_ENST00000510662.1_Silent_p.N118N|FBXL7_ENST00000329673.7_Silent_p.N153N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	165					cell proliferation (GO:0008283)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						AGACCATCAACGTGGACCGCG	0.667																																						ENST00000504595.1																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						c.(493-495)aaC>aaT		F-box and leucine-rich repeat protein 7							24.0	28.0	27.0					5																	15928366		2118	4226	6344	SO:0001819	synonymous_variant	23194				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:15928366C>T	AB020647	CCDS54833.1, CCDS64129.1	5p15.1	2011-06-09				ENSG00000183580		"""F-boxes / Leucine-rich repeats"""	13604	protein-coding gene	gene with protein product		605656				10048485, 10531035	Standard	NM_012304		Approved	KIAA0840, FBL7, FBL6	uc003jfn.1	Q9UJT9		ENST00000504595.1:c.495C>T	5.37:g.15928366C>T						FBXL7_ENST00000329673.7_Silent_p.N153N|FBXL7_ENST00000510662.1_Silent_p.N118N	p.N165N	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN			3	976	+			165					B9EGF1|D6RDY7|O94926	Silent	SNP	ENST00000504595.1	37	c.495C>T	CCDS54833.1																																																																																				0.667	FBXL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366117.1	NM_012304		7	129	0	0	0	1	0	7	129				
TRPM1	4308	broad.mit.edu	37	15	31319127	31319127	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:31319127G>A	ENST00000256552.6	-	26	3634	c.3487C>T	c.(3487-3489)Cgt>Tgt	p.R1163C	RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1141C|TRPM1_ENST00000542188.1_Missense_Mutation_p.R1180C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252024.1	NP_001238953.1			transient receptor potential cation channel, subfamily M, member 1											NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTCAATCCACGATCCCGTTCC	0.463																																						ENST00000542188.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99						c.(3538-3540)Cgt>Tgt		transient receptor potential cation channel, subfamily M, member 1							123.0	117.0	119.0					15																	31319127		1911	4129	6040	SO:0001583	missense	4308				cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	g.chr15:31319127G>A	AF071787	CCDS10024.2, CCDS58345.1, CCDS58346.1, CCDS58347.1	15q13.3	2014-01-28		2002-01-18	ENSG00000134160	ENSG00000134160		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	7146	protein-coding gene	gene with protein product		603576	"""melastatin 1"""	MLSN1		9806836, 9537257, 16382100	Standard	NM_001252020		Approved	LTRPC1, CSNB1C	uc021sia.1	Q7Z4N2	OTTHUMG00000129267	ENST00000256552.6:c.3487C>T	15.37:g.31319127G>A	ENSP00000256552:p.Arg1163Cys					RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.R1141C|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1163C|RP11-348B17.1_ENST00000561299.1_RNA	p.R1180C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)	25	3851	-		all_lung(180;1.92e-11)	1141						Missense_Mutation	SNP	ENST00000256552.6	37	c.3538C>T	CCDS58346.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.648605	0.67358	.	.	ENSG00000134160	ENST00000397795;ENST00000542188;ENST00000256552;ENST00000397793	T;T;T	0.36878	1.23;1.23;1.23	5.79	5.79	0.91817	.	0.110302	0.64402	D	0.000012	T	0.43656	0.1257	L	0.47716	1.5	0.52501	D	0.999952	P;P	0.47962	0.903;0.843	P;P	0.51229	0.663;0.462	T	0.18461	-1.0336	10	0.48119	T	0.1	-12.7835	13.9482	0.64099	0.0:0.0:0.7473:0.2527	.	1135;1141	Q7Z4N2-3;Q7Z4N2	.;TRPM1_HUMAN	C	1141;1180;1163;1141	ENSP00000380897:R1141C;ENSP00000437849:R1180C;ENSP00000256552:R1163C	ENSP00000256552:R1163C	R	-	1	0	TRPM1	29106419	0.999000	0.42202	0.962000	0.40283	0.942000	0.58702	2.188000	0.42612	2.736000	0.93811	0.655000	0.94253	CGT		0.463	TRPM1-004	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417166.2	NM_002420		42	429	0	0	0	1	0	42	429				
GJA4	2701	broad.mit.edu	37	1	35260163	35260163	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:35260163C>T	ENST00000342280.4	+	2	437	c.349C>T	c.(349-351)Ccg>Tcg	p.P117S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	117					blood vessel development (GO:0001568)|calcium ion transport (GO:0006816)|cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|endothelium development (GO:0003158)|response to pain (GO:0048265)|transport (GO:0006810)	connexon complex (GO:0005922)|gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GCGGGCACTGCCGGCCAAGGA	0.667																																						ENST00000342280.4																			0				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14						c.(349-351)Ccg>Tcg		gap junction protein, alpha 4, 37kDa							25.0	28.0	27.0					1																	35260163		2203	4300	6503	SO:0001583	missense	2701				cell-cell junction assembly	integral to plasma membrane		g.chr1:35260163C>T	M96789	CCDS30669.1	1p35.1	2008-02-05	2007-01-16		ENSG00000187513	ENSG00000187513		"""Ion channels / Gap junction proteins (connexins)"""	4278	protein-coding gene	gene with protein product	"""connexin 37"""	121012	"""gap junction protein, alpha 4, 37kD (connexin 37)"", ""gap junction protein, alpha 4, 37kDa (connexin 37)"""			9843209, 7680674	Standard	XM_005270750		Approved	CX37	uc001bya.3	P35212	OTTHUMG00000004050	ENST00000342280.4:c.349C>T	1.37:g.35260163C>T	ENSP00000343676:p.Pro117Ser						p.P117S	NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN			2	437	+		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)	117					A8K698|D3DPR4|Q9P106|Q9UBL1|Q9UNA9|Q9UNB0|Q9UNB1|Q9Y5N7	Missense_Mutation	SNP	ENST00000342280.4	37	c.349C>T	CCDS30669.1	.	.	.	.	.	.	.	.	.	.	C	2.482	-0.319516	0.05386	.	.	ENSG00000187513	ENST00000342280;ENST00000450137;ENST00000543143	D;D	0.97232	-4.27;-4.3	5.11	4.2	0.49525	.	0.976137	0.08425	N	0.947757	D	0.93128	0.7812	L	0.29908	0.895	0.19300	N	0.999979	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.83316	-0.0020	10	0.13470	T	0.59	.	9.298	0.37827	0.0:0.7788:0.1446:0.0766	.	117;117	Q5JW71;P35212	.;CXA4_HUMAN	S	117	ENSP00000343676:P117S;ENSP00000409186:P117S	ENSP00000343676:P117S	P	+	1	0	GJA4	35032750	0.958000	0.32768	0.903000	0.35520	0.138000	0.21146	1.218000	0.32467	1.146000	0.42352	0.563000	0.77884	CCG		0.667	GJA4-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011556.1	NM_002060		4	214	0	0	0	1	0	4	214				
TRIP6	7205	broad.mit.edu	37	7	100465514	100465514	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:100465514C>T	ENST00000200457.4	+	2	501	c.141C>T	c.(139-141)tgC>tgT	p.C47C		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	47					focal adhesion assembly (GO:0048041)|positive regulation of cell migration (GO:0030335)|regulation of transcription, DNA-templated (GO:0006355)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|kinase binding (GO:0019900)|poly(A) RNA binding (GO:0044822)|thyroid hormone receptor binding (GO:0046966)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAATTTTTGCCCCCTTCCAT	0.622																																						ENST00000200457.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14						c.(139-141)tgC>tgT		thyroid hormone receptor interactor 6							63.0	75.0	71.0					7																	100465514		2203	4300	6503	SO:0001819	synonymous_variant	7205				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding	g.chr7:100465514C>T	L40374, AF000974	CCDS5708.1	7q22	2006-09-05			ENSG00000087077	ENSG00000087077			12311	protein-coding gene	gene with protein product		602933				9598321, 7776974	Standard	NM_003302		Approved	ZRP-1, OIP1, MGC10556, MGC10558, MGC29959, MGC3837, MGC4423	uc003uww.3	Q15654	OTTHUMG00000157029	ENST00000200457.4:c.141C>T	7.37:g.100465514C>T							p.C47C	NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN			2	501	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		47					A4D2E7|F2ZC07|F2ZC08|O15170|O15275|Q9BTB2|Q9BUE5|Q9BXP3|Q9UNT4	Silent	SNP	ENST00000200457.4	37	c.141C>T	CCDS5708.1																																																																																				0.622	TRIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347151.2	NM_003302		6	951	0	0	0	1	0	6	951				
COL6A1	1291	broad.mit.edu	37	21	47423408	47423408	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:47423408C>T	ENST00000361866.3	+	35	2682	c.2568C>T	c.(2566-2568)gcC>gcT	p.A856A	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	856	C-terminal globular domain.|VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|osteoblast differentiation (GO:0001649)|protein heterotrimerization (GO:0070208)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)	platelet-derived growth factor binding (GO:0048407)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)		AGCGCCTGGCCGAGCGCTTCC	0.706																																						ENST00000361866.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(2566-2568)gcC>gcT		collagen, type VI, alpha 1	Palifermin(DB00039)						17.0	20.0	19.0					21																	47423408		2188	4250	6438	SO:0001819	synonymous_variant	1291				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding	g.chr21:47423408C>T	M20776	CCDS13727.1	21q22.3	2014-09-17			ENSG00000142156	ENSG00000142156		"""Collagens"""	2211	protein-coding gene	gene with protein product		120220					Standard	XM_006723964		Approved		uc002zhu.1	P12109	OTTHUMG00000090440	ENST00000361866.3:c.2568C>T	21.37:g.47423408C>T						COL6A1_ENST00000498614.1_3'UTR	p.A856A	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN		Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	35	2682	+	all_hematologic(128;0.24)		856			C-terminal globular domain.|VWFA 3.		O00117|O00118|Q14040|Q14041|Q16258|Q7Z645|Q9BSA8	Silent	SNP	ENST00000361866.3	37	c.2568C>T	CCDS13727.1																																																																																				0.706	COL6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206877.1	NM_001848		29	148	0	0	0	1	0	29	148				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		10	304	0	0	0	1	0	10	304				
CPED1	79974	broad.mit.edu	37	7	120770236	120770236	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:120770236G>A	ENST00000310396.5	+	12	1932	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	CPED1_ENST00000423795.1_Missense_Mutation_p.A269T|CPED1_ENST00000450913.2_Missense_Mutation_p.A489T	NM_024913.4	NP_079189.4	A4D0V7	CPED1_HUMAN	cadherin-like and PC-esterase domain containing 1	489						endoplasmic reticulum (GO:0005783)											TTATGATGTGGCAAATCCTGT	0.373																																						ENST00000310396.5																			0											c.(1465-1467)Gca>Aca		cadherin-like and PC-esterase domain containing 1							149.0	142.0	144.0					7																	120770236		2203	4300	6503	SO:0001583	missense	79974							g.chr7:120770236G>A		CCDS34739.1, CCDS47690.1	7q31.31	2012-06-12	2012-06-12	2012-06-12	ENSG00000106034	ENSG00000106034			26159	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 58"""	C7orf58		20056006	Standard	NM_024913		Approved	FLJ21986	uc003vjq.4	A4D0V7	OTTHUMG00000156982	ENST00000310396.5:c.1465G>A	7.37:g.120770236G>A	ENSP00000309772:p.Ala489Thr					CPED1_ENST00000423795.1_Missense_Mutation_p.A269T|CPED1_ENST00000450913.2_Missense_Mutation_p.A489T	p.A489T	NM_024913.4	NP_079189.4					12	1932	+								A8K1R3|Q6UXT1|Q86T76|Q86T84|Q8N2T5|Q96NC9	Missense_Mutation	SNP	ENST00000310396.5	37	c.1465G>A	CCDS34739.1	.	.	.	.	.	.	.	.	.	.	G	11.18	1.563742	0.27915	.	.	ENSG00000106034	ENST00000310396;ENST00000428526;ENST00000450913;ENST00000423795;ENST00000443817	T;T;T;T;T	0.46819	2.2;0.86;1.88;1.84;1.42	5.49	2.7	0.31948	.	0.681813	0.14243	N	0.331940	T	0.34366	0.0895	L	0.36672	1.1	0.09310	N	0.999997	B;B;B	0.17667	0.005;0.023;0.002	B;B;B	0.13407	0.009;0.007;0.007	T	0.19257	-1.0311	10	0.21540	T	0.41	.	8.9922	0.36030	0.2284:0.0:0.7716:0.0	.	269;489;489	G5E9U2;A4D0V7-2;A4D0V7	.;.;CG058_HUMAN	T	489;489;489;269;269	ENSP00000309772:A489T;ENSP00000398082:A489T;ENSP00000406122:A489T;ENSP00000415573:A269T;ENSP00000391952:A269T	ENSP00000309772:A489T	A	+	1	0	C7orf58	120557472	0.123000	0.22298	0.001000	0.08648	0.762000	0.43233	1.419000	0.34793	0.804000	0.34136	0.557000	0.71058	GCA		0.373	CPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346959.1	NM_024913		5	494	0	0	0	1	0	5	494				
GZMM	3004	broad.mit.edu	37	19	547338	547338	+	Silent	SNP	G	G	A	rs368042562		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:547338G>A	ENST00000264553.3	+	2	152	c.114G>A	c.(112-114)ccG>ccA	p.P38P		NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308	P51124	GRAM_HUMAN	granzyme M (lymphocyte met-ase 1)	38	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				apoptotic process (GO:0006915)|cytolysis (GO:0019835)|innate immune response (GO:0045087)	extracellular region (GO:0005576)|membrane (GO:0016020)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(1)|prostate(1)	3		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-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)		ACTCGCGCCCGTACATGGCCT	0.662																																						ENST00000264553.3																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(112-114)ccG>ccA		granzyme M (lymphocyte met-ase 1)		G		0,4406		0,0,2203	63.0	64.0	64.0		114	-7.3	0.0	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GZMM	NM_005317.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		38/258	547338	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3004				apoptosis|cytolysis|innate immune response|proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:547338G>A		CCDS12031.1, CCDS74240.1	19p13.3	2008-07-16				ENSG00000197540			4712	protein-coding gene	gene with protein product	"""lymphocyte met-ase 1"""	600311				8119738	Standard	NM_005317		Approved	MET1, LMET1	uc002low.2	P51124		ENST00000264553.3:c.114G>A	19.37:g.547338G>A							p.P38P	NM_001258351.1|NM_005317.3	NP_001245280.1|NP_005308.1	P51124	GRAM_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)	2	152	+		all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	38			Peptidase S1.			Silent	SNP	ENST00000264553.3	37	c.114G>A	CCDS12031.1																																																																																				0.662	GZMM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451895.2	NM_005317		6	588	0	0	0	1	0	6	588				
RIC1	57589	broad.mit.edu	37	9	5765691	5765691	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:5765691C>T	ENST00000414202.2	+	21	3221	c.3030C>T	c.(3028-3030)ttC>ttT	p.F1010F	KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000381532.2_Silent_p.F931F|KIAA1432_ENST00000449720.2_Silent_p.F894F|KIAA1432_ENST00000418622.3_Silent_p.F931F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GATTTGAGTTCTTCAGGAATC	0.433																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(3028-3030)ttC>ttT		KIAA1432							235.0	230.0	232.0					9																	5765691		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5765691C>T																												ENST00000414202.2:c.3030C>T	9.37:g.5765691C>T						KIAA1432_ENST00000251879.6_Silent_p.F1010F|KIAA1432_ENST00000381532.2_Silent_p.F931F|KIAA1432_ENST00000449720.2_Silent_p.F894F|KIAA1432_ENST00000418622.3_Silent_p.F931F	p.F1010F	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	21	3221	+		Acute lymphoblastic leukemia(23;0.154)	1010						Silent	SNP	ENST00000414202.2	37	c.3030C>T	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173584	0.21704	.	.	ENSG00000107036	ENST00000545641	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	T	0.77336	0.4115	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73886	-0.3841	4	.	.	.	-18.4469	20.5948	0.99439	0.0:1.0:0.0:0.0	.	.	.	.	F	902	.	.	L	+	1	0	KIAA1432	5755691	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.004000	0.49513	2.873000	0.98535	0.563000	0.77884	CTT		0.433	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			98	855	0	0	0	1	0	98	855				
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RP1-244F24.1_ENST00000606796.1_RNA|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736																																						ENST00000371438.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						c.(190-192)caG>caA		runt-related transcription factor 2							11.0	16.0	14.0					6																	45390463		1448	3096	4544	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45390463G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.192G>A	6.37:g.45390463G>A						RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q	p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN			2	550	+			64			Poly-Gln.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.192G>A	CCDS43467.2																																																																																				0.736	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		5	202	0	0	0	1	0	5	202				
OR2Y1	134083	broad.mit.edu	37	5	180166493	180166493	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180166493G>A	ENST00000307832.2	-	1	606	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	189						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCTGTGTCCGCACAAGCCAA	0.507																																						ENST00000307832.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(565-567)gCg>gTg		olfactory receptor, family 2, subfamily Y, member 1							82.0	70.0	74.0					5																	180166493		2203	4300	6503	SO:0001583	missense	134083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr5:180166493G>A	AB065676	CCDS34323.1	5q35	2012-08-09			ENSG00000174339	ENSG00000174339		"""GPCR / Class A : Olfactory receptors"""	14837	protein-coding gene	gene with protein product							Standard	NM_001001657		Approved		uc003mmf.1	Q8NGV0	OTTHUMG00000162237	ENST00000307832.2:c.566C>T	5.37:g.180166493G>A	ENSP00000312403:p.Ala189Val						p.A189V	NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		1	606	-	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	189					B9EIP1|Q6IFB1|Q96R16	Missense_Mutation	SNP	ENST00000307832.2	37	c.566C>T	CCDS34323.1	.	.	.	.	.	.	.	.	.	.	g	0.125	-1.120816	0.01785	.	.	ENSG00000174339	ENST00000307832	T	0.00137	8.68	4.41	-8.81	0.00813	GPCR, rhodopsin-like superfamily (1);	2.447600	0.01860	N	0.036546	T	0.00039	0.0001	N	0.02685	-0.53	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.45891	-0.9230	10	0.02654	T	1	.	1.5139	0.02502	0.3935:0.1488:0.3068:0.1509	.	189	Q8NGV0	OR2Y1_HUMAN	V	189	ENSP00000312403:A189V	ENSP00000312403:A189V	A	-	2	0	OR2Y1	180099099	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.460000	0.06720	-1.715000	0.01389	-1.294000	0.01345	GCG		0.507	OR2Y1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368059.2	XM_068682		5	297	0	0	0	1	0	5	297				
AHNAK2	113146	broad.mit.edu	37	14	105416307	105416307	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:105416307C>T	ENST00000333244.5	-	7	5600	c.5481G>A	c.(5479-5481)aaG>aaA	p.K1827K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1827						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCATCTTGAACTTGGGCATTT	0.612																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5479-5481)aaG>aaA		AHNAK nucleoprotein 2							199.0	239.0	226.0					14																	105416307		1917	4079	5996	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105416307C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.5481G>A	14.37:g.105416307C>T						AHNAK2_ENST00000557457.1_Intron	p.K1827K	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	5600	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1827					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.5481G>A	CCDS45177.1																																																																																				0.612	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		10	2407	0	0	0	1	0	10	2407				
TRANK1	9881	broad.mit.edu	37	3	36896676	36896676	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:36896676T>C	ENST00000429976.2	-	12	4652	c.4405A>G	c.(4405-4407)Agg>Ggg	p.R1469G	TRANK1_ENST00000428977.2_Missense_Mutation_p.R919G|TRANK1_ENST00000301807.6_Missense_Mutation_p.R919G	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1469							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGTGGGACCTGTAATTCTGG	0.527																																						ENST00000429976.2																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4405-4407)Agg>Ggg		tetratricopeptide repeat and ankyrin repeat containing 1							55.0	53.0	54.0					3																	36896676		1970	4162	6132	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36896676T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4405A>G	3.37:g.36896676T>C	ENSP00000416168:p.Arg1469Gly					TRANK1_ENST00000301807.6_Missense_Mutation_p.R919G|TRANK1_ENST00000428977.2_Missense_Mutation_p.R919G	p.R1469G			O15050	TRNK1_HUMAN			12	4652	-			1469					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4405A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	18.87	3.714865	0.68844	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	D;D;D	0.98090	-4.71;-4.71;-4.71	5.54	2.99	0.34606	.	0.000000	0.64402	D	0.000006	D	0.98248	0.9420	M	0.72894	2.215	0.42207	D	0.99179	D	0.89917	1.0	D	0.83275	0.996	D	0.98977	1.0803	10	0.87932	D	0	.	13.4212	0.60998	0.0:0.0:0.304:0.696	.	1469	O15050	TRNK1_HUMAN	G	919;1469;919	ENSP00000416826:R919G;ENSP00000416168:R1469G;ENSP00000301807:R919G	ENSP00000301807:R919G	R	-	1	2	TRANK1	36871680	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.445000	0.21677	1.021000	0.39600	0.459000	0.35465	AGG		0.527	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		4	200	0	0	0	1	0	4	200				
USP6	9098	broad.mit.edu	37	17	5072190	5072190	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:5072190G>A	ENST00000574788.1	+	35	5587	c.3357G>A	c.(3355-3357)caG>caA	p.Q1119Q	USP6_ENST00000304328.5_Silent_p.Q802Q|USP6_ENST00000250066.6_Silent_p.Q1119Q|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	1119	USP.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTCTGCCAGCATAAACCAC	0.493			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	ENST00000574788.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(3355-3357)caG>caA		ubiquitin specific peptidase 6 (Tre-2 oncogene)							104.0	112.0	109.0					17																	5072190		2203	4300	6503	SO:0001819	synonymous_variant	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5072190G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.3357G>A	17.37:g.5072190G>A						USP6_ENST00000250066.6_Silent_p.Q1119Q|USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Silent_p.Q802Q	p.Q1119Q			P35125	UBP6_HUMAN			35	5587	+			1119					Q15634|Q86WP6|Q8IWT4	Silent	SNP	ENST00000574788.1	37	c.3357G>A	CCDS11069.2																																																																																				0.493	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505		6	814	0	0	0	1	0	6	814				
RGS20	8601	broad.mit.edu	37	8	54793583	54793583	+	Intron	SNP	C	C	T	rs574141651		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:54793583C>T	ENST00000297313.3	+	2	602				RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000276500.4_Missense_Mutation_p.T3M	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20						positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CGCATGCGCACGGCGGACGGA	0.672													C|||	1	0.000199681	0.0008	0.0	5008	,	,		10392	0.0		0.0	False		,,,				2504	0.0					ENST00000276500.4																			0				breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(7-9)aCg>aTg		regulator of G-protein signaling 20							7.0	10.0	9.0					8																	54793583		1925	3953	5878	SO:0001627	intron_variant	8601				negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|nucleus|plasma membrane	GTPase activator activity|protein binding|signal transducer activity	g.chr8:54793583C>T	AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.510+1421C>T	8.37:g.54793583C>T						RGS20_ENST00000522225.1_5'UTR|RGS20_ENST00000344277.6_Intron|RGS20_ENST00000297313.3_Intron	p.T3M	NM_003702.3	NP_003693.2	O76081	RGS20_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)		1	130	+			0					Q96BG9	Missense_Mutation	SNP	ENST00000297313.3	37	c.8C>T	CCDS6155.1	.	.	.	.	.	.	.	.	.	.	C	15.45	2.835896	0.50951	.	.	ENSG00000147509	ENST00000276500	T	0.39229	1.09	3.61	1.8	0.24995	.	.	.	.	.	T	0.25531	0.0621	.	.	.	0.19300	N	0.999972	B	0.32893	0.389	B	0.21546	0.035	T	0.20672	-1.0268	8	0.87932	D	0	.	3.9867	0.09519	0.0:0.5796:0.1979:0.2225	.	3	O76081-6	.	M	3	ENSP00000276500:T3M	ENSP00000276500:T3M	T	+	2	0	RGS20	54956136	0.435000	0.25577	0.989000	0.46669	0.511000	0.34104	0.403000	0.20982	0.514000	0.28300	-0.291000	0.09656	ACG		0.672	RGS20-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380058.1			16	102	0	0	0	1	0	16	102				
NBPF15	284565	broad.mit.edu	37	1	148594434	148594434	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:148594434G>A	ENST00000369187.3	+	19	2296	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	NBPF15_ENST00000442702.2_Missense_Mutation_p.V603I	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	603	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					AGAGCCTGAAGTCTTACAGGA	0.458																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1807-1809)Gtc>Atc		neuroblastoma breakpoint family, member 15																																				SO:0001583	missense	284565					cytoplasm		g.chr1:148594434G>A	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1807G>A	1.37:g.148594434G>A	ENSP00000358188:p.Val603Ile					NBPF15_ENST00000369187.3_Missense_Mutation_p.V603I	p.V603I	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2874	+	all_hematologic(923;0.032)		603			NBPF 6.		Q3BBV9|Q8IX77	Missense_Mutation	SNP	ENST00000369187.3	37	c.1807G>A	CCDS932.1	.	.	.	.	.	.	.	.	.	.	.	10.11	1.259285	0.23051	.	.	ENSG00000243452	ENST00000442702;ENST00000369187	T;T	0.15372	2.43;2.43	0.502	0.502	0.16932	DUF1220 (2);	.	.	.	.	T	0.27098	0.0664	M	0.84683	2.71	0.09310	N	1	D	0.57257	0.979	D	0.75484	0.986	T	0.02539	-1.1144	8	0.56958	D	0.05	.	.	.	.	.	603	Q8N660	NBPFF_HUMAN	I	603	ENSP00000416864:V603I;ENSP00000358188:V603I	ENSP00000358188:V603I	V	+	1	0	NBPF15	146861058	0.951000	0.32395	0.009000	0.14445	0.006000	0.05464	0.894000	0.28350	0.557000	0.29117	0.377000	0.23210	GTC		0.458	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		8	1530	0	0	0	1	0	8	1530				
GRIN2B	2904	broad.mit.edu	37	12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	rs552036402		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	904					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GTTCTTGGCCGTGCGCAGCAG	0.582													G|||	1	0.000199681	0.0	0.0	5008	,	,		20296	0.0		0.001	False		,,,				2504	0.0					ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(2710-2712)aCg>aTg		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						155.0	142.0	146.0					12																	13717461		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13717461G>A		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.2711C>T	12.37:g.13717461G>A	ENSP00000477455:p.Thr904Met						p.T904M	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			13	2920	-			904					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.2711C>T	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102169	0.56183	.	.	ENSG00000150086	ENST00000279593	T	0.13778	2.56	5.43	5.43	0.79202	Glutamate [NMDA] receptor, epsilon subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.36663	0.0975	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.05162	-1.0902	10	0.87932	D	0	.	19.2359	0.93858	0.0:0.0:1.0:0.0	.	904	Q13224	NMDE2_HUMAN	M	904	ENSP00000279593:T904M	ENSP00000279593:T904M	T	-	2	0	GRIN2B	13608728	1.000000	0.71417	0.990000	0.47175	0.784000	0.44337	8.056000	0.89455	2.561000	0.86390	0.655000	0.94253	ACG		0.582	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	1000	0	0	0	1	0	6	1000				
TMEM132D	121256	broad.mit.edu	37	12	130184773	130184773	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:130184773G>A	ENST00000422113.2	-	2	876	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	184					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCCTGCAGCCGGCAGCTGCCC	0.692																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(550-552)Cgg>Tgg		transmembrane protein 132D							13.0	16.0	15.0					12																	130184773		2197	4288	6485	SO:0001583	missense	121256					integral to membrane		g.chr12:130184773G>A	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.550C>T	12.37:g.130184773G>A	ENSP00000408581:p.Arg184Trp						p.R184W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	876	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	184					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.550C>T	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647589	0.67358	.	.	ENSG00000151952	ENST00000422113	T	0.13657	2.57	5.22	3.2	0.36748	.	0.585904	0.15144	N	0.278095	T	0.37461	0.1004	M	0.86740	2.835	0.32312	N	0.563638	D	0.76494	0.999	P	0.59288	0.855	T	0.56529	-0.7964	9	.	.	.	-33.4486	13.4612	0.61229	0.0:0.0:0.5014:0.4986	.	184	Q14C87	T132D_HUMAN	W	184	ENSP00000408581:R184W	.	R	-	1	2	TMEM132D	128750726	0.099000	0.21834	0.990000	0.47175	0.952000	0.60782	0.262000	0.18460	1.122000	0.41944	0.555000	0.69702	CGG		0.692	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		19	198	0	0	0	1	0	19	198				
DEPDC1	55635	broad.mit.edu	37	1	68947194	68947194	+	Missense_Mutation	SNP	G	G	A	rs200248484		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:68947194G>A	ENST00000456315.2	-	9	1978	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R338C|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	622	Interaction with ZNF224.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	GTPase activator activity (GO:0005096)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAAATCATACGCATTAAAAGT	0.398																																						ENST00000456315.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13						c.(1864-1866)Cgt>Tgt		DEP domain containing 1							80.0	76.0	77.0					1																	68947194		2203	4299	6502	SO:0001583	missense	55635				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	g.chr1:68947194G>A	AK000361	CCDS644.1, CCDS44159.1	1p31.2	2008-08-19			ENSG00000024526	ENSG00000024526			22949	protein-coding gene	gene with protein product		612002					Standard	NM_001114120		Approved	DEP.8, FLJ20354, SDP35, DEPDC1A	uc001dem.4	Q5TB30	OTTHUMG00000009212	ENST00000456315.2:c.1864C>T	1.37:g.68947194G>A	ENSP00000412292:p.Arg622Cys					DEPDC1_ENST00000370966.5_Missense_Mutation_p.R338C|RP4-694A7.2_ENST00000425820.1_RNA	p.R622C	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)	9	1978	-			622			Interaction with ZNF224.		A8QXE0|A8QXE1|Q05DU3|Q5TB28|Q9H9I3|Q9NX21|Q9NXZ0	Missense_Mutation	SNP	ENST00000456315.2	37	c.1864C>T	CCDS44159.1	.	.	.	.	.	.	.	.	.	.	G	14.77	2.635313	0.47049	.	.	ENSG00000024526	ENST00000456315;ENST00000370966	D;D	0.86627	-2.15;-2.15	5.72	4.78	0.61160	Rho GTPase-activating protein domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	D	0.92770	0.7701	M	0.83483	2.645	0.44539	D	0.997495	P;D	0.89917	0.793;1.0	B;D	0.87578	0.181;0.998	D	0.93210	0.6599	10	0.72032	D	0.01	-2.5002	15.1757	0.72910	0.0:0.0:0.7481:0.2519	.	622;338	Q5TB30;Q5TB30-2	DEP1A_HUMAN;.	C	622;338	ENSP00000412292:R622C;ENSP00000360005:R338C	ENSP00000360005:R338C	R	-	1	0	DEPDC1	68719782	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.266000	0.51569	2.691000	0.91804	0.655000	0.94253	CGT		0.398	DEPDC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000025514.2	NM_017779		10	124	0	0	0	1	0	10	124				
DSG4	147409	broad.mit.edu	37	18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28991295G>A	ENST00000308128.4	+	15	2374	c.2239G>A	c.(2239-2241)Gca>Aca	p.A747T	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000359747.4_Missense_Mutation_p.A766T	NM_177986.3	NP_817123.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	747					anagen (GO:0042640)|BMP signaling pathway (GO:0030509)|homophilic cell adhesion (GO:0007156)|keratinocyte differentiation (GO:0030216)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612																																						ENST00000359747.4																			2	Substitution - Missense(2)	p.A747T(1)|p.A766T(1)	lung(2)	NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70						c.(2296-2298)Gca>Aca		desmoglein 4							55.0	54.0	54.0					18																	28991295		2203	4300	6503	SO:0001583	missense	147409				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	g.chr18:28991295G>A	AY177664, AY168788	CCDS11897.1, CCDS45845.1	18q12.1	2010-01-26			ENSG00000175065	ENSG00000175065		"""Cadherins / Major cadherins"""	21307	protein-coding gene	gene with protein product		607892				12648213	Standard	NM_001134453		Approved	CDHF13, LAH	uc002kwq.2	Q86SJ6	OTTHUMG00000131979	ENST00000308128.4:c.2239G>A	18.37:g.28991295G>A	ENSP00000311859:p.Ala747Thr					DSG4_ENST00000308128.4_Missense_Mutation_p.A747T|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	p.A766T	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00504)		14	2325	+			747					A2RUI1|Q6Y9L9|Q8IXV4	Missense_Mutation	SNP	ENST00000308128.4	37	c.2296G>A	CCDS11897.1	.	.	.	.	.	.	.	.	.	.	G	9.416	1.081746	0.20309	.	.	ENSG00000175065	ENST00000308128;ENST00000359747	T;T	0.54479	0.57;0.57	5.97	3.21	0.36854	.	1.875210	0.03665	N	0.243122	T	0.47303	0.1438	L	0.46157	1.445	0.09310	N	1	B;B	0.19445	0.035;0.036	B;B	0.15870	0.014;0.012	T	0.23013	-1.0200	10	0.33141	T	0.24	.	6.4264	0.21772	0.2094:0.1314:0.6592:0.0	.	766;747	Q86SJ6-2;Q86SJ6	.;DSG4_HUMAN	T	747;766	ENSP00000311859:A747T;ENSP00000352785:A766T	ENSP00000311859:A747T	A	+	1	0	DSG4	27245293	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.646000	0.24797	0.413000	0.25759	-0.727000	0.03589	GCA		0.612	DSG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254941.1	NM_177986		5	377	0	0	0	1	0	5	377				
LMAN1L	79748	broad.mit.edu	37	15	75115914	75115914	+	Missense_Mutation	SNP	G	G	A	rs543907196		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:75115914G>A	ENST00000309664.5	+	12	1353	c.1214G>A	c.(1213-1215)cGc>cAc	p.R405H	LMAN1L_ENST00000379709.3_Missense_Mutation_p.R393H|CPLX3_ENST00000395018.4_5'Flank|RP11-414J4.2_ENST00000564823.1_RNA	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	405						integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCAGCTGTCCGCATGGCTGCA	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.0		0.0	False		,,,				2504	0.001					ENST00000309664.5																			0				NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1213-1215)cGc>cAc		lectin, mannose-binding, 1 like							77.0	71.0	73.0					15																	75115914		2197	4296	6493	SO:0001583	missense	79748					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	g.chr15:75115914G>A	AF303398	CCDS10270.1	15q24.1	2005-08-05			ENSG00000140506	ENSG00000140506			6632	protein-coding gene	gene with protein product		609548				11255007	Standard	NM_021819		Approved	ERGL, ERGIC-53L	uc002ayt.1	Q9HAT1	OTTHUMG00000142813	ENST00000309664.5:c.1214G>A	15.37:g.75115914G>A	ENSP00000310431:p.Arg405His					RP11-414J4.2_ENST00000564823.1_RNA|LMAN1L_ENST00000379709.3_Missense_Mutation_p.R393H	p.R405H	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN			12	1353	+			405					Q6UWN2	Missense_Mutation	SNP	ENST00000309664.5	37	c.1214G>A	CCDS10270.1	.	.	.	.	.	.	.	.	.	.	G	7.607	0.673992	0.14841	.	.	ENSG00000140506	ENST00000309664;ENST00000379709	T;T	0.39406	1.11;1.08	5.18	-5.19	0.02832	.	1.400440	0.04515	N	0.383606	T	0.25158	0.0611	N	0.22421	0.69	0.25604	N	0.986564	B;B	0.14012	0.009;0.005	B;B	0.09377	0.004;0.002	T	0.18493	-1.0335	10	0.33940	T	0.23	.	6.2762	0.20981	0.2272:0.0:0.5161:0.2567	.	393;405	Q9HAT1-3;Q9HAT1	.;LMA1L_HUMAN	H	405;393	ENSP00000310431:R405H;ENSP00000369031:R393H	ENSP00000310431:R405H	R	+	2	0	LMAN1L	72902967	0.000000	0.05858	0.052000	0.19188	0.262000	0.26303	-0.908000	0.04063	-0.806000	0.04398	0.561000	0.74099	CGC		0.557	LMAN1L-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286397.4			5	373	0	0	0	1	0	5	373				
KRTAP5-7	440050	broad.mit.edu	37	11	71238580	71238580	+	Silent	SNP	C	C	T	rs12271719		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:71238580C>T	ENST00000398536.4	+	1	268	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	78	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGGCTGTGGCTCTTGTGGGG	0.642																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(232-234)ggC>ggT		keratin associated protein 5-7							72.0	99.0	90.0					11																	71238580		2199	4294	6493	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238580C>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.234C>T	11.37:g.71238580C>T							p.G78G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	268	+			78			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.234C>T	CCDS41682.1																																																																																				0.642	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			10	1442	0	0	0	1	0	10	1442				
KRTAP5-8	57830	broad.mit.edu	37	11	71249558	71249558	+	Missense_Mutation	SNP	T	T	A	rs374587723		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:71249558T>A	ENST00000398534.3	+	1	488	c.457T>A	c.(457-459)Tgc>Agc	p.C153S		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	153	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TAAGCCCTGCTGCTGCTCTTC	0.602																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(457-459)Tgc>Agc		keratin associated protein 5-8							176.0	180.0	178.0					11																	71249558		2200	4294	6494	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249558T>A	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.457T>A	11.37:g.71249558T>A	ENSP00000420723:p.Cys153Ser						p.C153S	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	488	+			153			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.457T>A	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	12.36	1.913624	0.33815	.	.	ENSG00000241233	ENST00000398534	T	0.01767	4.65	1.63	0.358	0.16084	.	.	.	.	.	T	0.04003	0.0112	M	0.90252	3.1	0.24313	N	0.995073	B	0.02656	0.0	B	0.06405	0.002	T	0.27434	-1.0074	9	0.52906	T	0.07	.	4.9425	0.13973	0.2691:0.0:0.0:0.7308	.	153	O75690	KRA58_HUMAN	S	153	ENSP00000420723:C153S	ENSP00000420723:C153S	C	+	1	0	KRTAP5-8	70927206	0.006000	0.16342	0.812000	0.32479	0.182000	0.23217	0.150000	0.16263	0.076000	0.16826	0.459000	0.35465	TGC		0.602	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		9	1698	0	0	0	1	0	9	1698				
RNF123	63891	broad.mit.edu	37	3	49724837	49724837	+	5'Flank	SNP	G	G	A	rs41291712	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:49724837G>A	ENST00000327697.6	+	0	0				MST1_ENST00000383728.3_Missense_Mutation_p.P69S|MST1_ENST00000449682.2_Missense_Mutation_p.P144S|MST1_ENST00000545762.1_Intron|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'UTR|RNF123_ENST00000432042.1_5'Flank	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123						protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCTGGCAGGGCAGGCCACCC	0.587													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17982	0.0		0.0	False		,,,				2504	0.0					ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(430-432)Ccc>Tcc		macrophage stimulating 1 (hepatocyte growth factor-like)							61.0	57.0	58.0					3																	49724837		2202	4299	6501	SO:0001631	upstream_gene_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49724837G>A	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891		3.37:g.49724837G>A	Exception_encountered					MST1_ENST00000383728.3_Missense_Mutation_p.P69S|MST1_ENST00000545762.1_Intron|MST1_ENST00000494828.2_5'UTR	p.P144S	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	4	791	-			130			Kringle 1.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	c.430C>T	CCDS33758.1	100	0.045787545787545784	32	0.06504065040650407	16	0.04419889502762431	29	0.050699300699300696	23	0.030343007915567283	G	0.954	-0.705493	0.03255	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	T;T	0.65364	-0.15;-0.15	5.24	0.07	0.14376	Kringle (4);Kringle-like fold (1);	0.172815	0.27971	N	0.017116	T	0.03739	0.0106	L	0.28776	0.89	0.58432	D	0.999991	B;B;B	0.25772	0.134;0.0;0.0	B;B;B	0.27887	0.084;0.005;0.003	T	0.01956	-1.1240	10	0.11182	T	0.66	.	3.3941	0.07299	0.1282:0.1034:0.3472:0.4212	rs41291712	130;130;144	B7Z538;P26927;G3XAK1	.;HGFL_HUMAN;.	S	144;69	ENSP00000414287:P144S;ENSP00000373234:P69S	ENSP00000373234:P69S	P	-	1	0	MST1	49699841	0.041000	0.20044	0.980000	0.43619	0.254000	0.26022	0.417000	0.21214	0.013000	0.14918	-0.216000	0.12614	CCC		0.587	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		8	435	0	0	0	1	0	8	435				
NEUROG3	50674	broad.mit.edu	37	10	71332359	71332359	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:71332359G>A	ENST00000242462.4	-	2	470	c.441C>T	c.(439-441)taC>taT	p.Y147Y		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	147					central nervous system development (GO:0007417)|endocrine pancreas development (GO:0031018)|epithelial cell differentiation (GO:0030855)|forebrain development (GO:0030900)|hindbrain development (GO:0030902)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|peripheral nervous system development (GO:0007422)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of dendrite morphogenesis (GO:0048814)|spinal cord development (GO:0021510)|transdifferentiation (GO:0060290)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|transcription coactivator activity (GO:0003713)			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						GCTCCAGCGCGTACAAGCTGT	0.682																																						ENST00000242462.4																			0				endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						c.(439-441)taC>taT		neurogenin 3							34.0	35.0	34.0					10																	71332359		2203	4300	6503	SO:0001819	synonymous_variant	50674				central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity	g.chr10:71332359G>A	AJ133776	CCDS31212.1	10q21.3	2013-05-21			ENSG00000122859	ENSG00000122859		"""Basic helix-loop-helix proteins"""	13806	protein-coding gene	gene with protein product		604882				9000438, 10677506	Standard	NM_020999		Approved	Atoh5, Math4B, ngn3, bHLHa7	uc001jpp.3	Q9Y4Z2	OTTHUMG00000018391	ENST00000242462.4:c.441C>T	10.37:g.71332359G>A							p.Y147Y	NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN			2	470	-			147					Q5VVI0|Q6DJX6|Q9BY24	Silent	SNP	ENST00000242462.4	37	c.441C>T	CCDS31212.1																																																																																				0.682	NEUROG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048464.1	NM_020999		5	231	0	0	0	1	0	5	231				
PCSK5	5125	broad.mit.edu	37	9	78790192	78790192	+	Intron	SNP	C	C	G	rs200914896		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:78790192C>G	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376767.3_Missense_Mutation_p.R683G|PCSK5_ENST00000376752.4_Intron	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						ggaatggaatcgaatcgaatc	0.373																																						ENST00000376767.3																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(2047-2049)Cga>Gga		proprotein convertase subtilisin/kexin type 5																																				SO:0001627	intron_variant	5125				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	g.chr9:78790192C>G		CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+147C>G	9.37:g.78790192C>G						PCSK5_ENST00000545128.1_Intron|PCSK5_ENST00000376752.4_Intron	p.R683G			Q92824	PCSK5_HUMAN			14	2559	+			0			CRM (Cys-rich motif).		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	ENST00000545128.1	37	c.2047C>G	CCDS55320.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	N|N	0.525|0.525	-0.860634|-0.860634	0.02610|0.02610	.|.	.|.	ENSG00000099139|ENSG00000099139	ENST00000376767|ENST00000396108	T|.	0.65916|.	-0.18|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.35098|0.35098	0.0920|0.0920	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.38045|0.38045	-0.9679|-0.9679	7|4	0.07325|0.87932	T|D	0.83|0	.|.	2.8186|2.8186	0.05465|0.05465	0.5:0.5:0.0:0.0|0.5:0.5:0.0:0.0	.|.	683|.	B1AMG5|.	.|.	G|W	683|681	ENSP00000365958:R683G|.	ENSP00000365958:R683G|ENSP00000379415:S681W	R|S	+|+	1|2	2|0	PCSK5|PCSK5	77980012|77980012	0.000000|0.000000	0.05858|0.05858	0.075000|0.075000	0.20258|0.20258	0.077000|0.077000	0.17291|0.17291	-2.681000|-2.681000	0.00837|0.00837	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGA|TCG		0.373	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding				6	38	0	0	0	1	0	6	38				
GLG1	2734	broad.mit.edu	37	16	74527016	74527016	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:74527016C>T	ENST00000422840.2	-	7	1072	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	GLG1_ENST00000205061.5_Missense_Mutation_p.R358H|GLG1_ENST00000447066.2_Missense_Mutation_p.R347H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	358					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						CAGCTTTTGGCGGGTTGTAAG	0.443																																						ENST00000422840.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						c.(1072-1074)cGc>cAc		golgi glycoprotein 1							137.0	123.0	128.0					16																	74527016		2198	4300	6498	SO:0001583	missense	2734					Golgi membrane|integral to membrane	receptor binding	g.chr16:74527016C>T		CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.1073G>A	16.37:g.74527016C>T	ENSP00000405984:p.Arg358His					GLG1_ENST00000447066.2_Missense_Mutation_p.R347H|GLG1_ENST00000205061.5_Missense_Mutation_p.R358H	p.R358H	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN			7	1072	-			358					B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	c.1073G>A	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	C	35	5.459970	0.96240	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.82706	0.5095	M	0.76170	2.325	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.83731	0.0198	9	0.72032	D	0.01	-3.7566	19.793	0.96468	0.0:1.0:0.0:0.0	.	358;358;347	Q92896;Q92896-2;B7Z8Y4	GSLG1_HUMAN;.;.	H	358;347;358	.	ENSP00000205061:R358H	R	-	2	0	GLG1	73084517	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.564000	0.82326	2.744000	0.94065	0.655000	0.94253	CGC		0.443	GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201		6	479	0	0	0	1	0	6	479				
DAXX	1616	broad.mit.edu	37	6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:33289539C>T	ENST00000374542.5	-	2	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_ENST00000414083.2_Intron|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000266000.6_Missense_Mutation_p.G55D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	55	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(163-165)gGc>gAc		death-domain associated protein							221.0	227.0	225.0					6																	33289539		2203	4300	6503	SO:0001583	missense	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289539C>T	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.164G>A	6.37:g.33289539C>T	ENSP00000363668:p.Gly55Asp					DAXX_ENST00000266000.6_Missense_Mutation_p.G55D|DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Intron	p.G55D	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			2	368	-			55			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Missense_Mutation	SNP	ENST00000374542.5	37	c.164G>A	CCDS4776.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608951	0.28623	.	.	ENSG00000204209	ENST00000266000;ENST00000374542;ENST00000446403;ENST00000453407	.	.	.	4.89	4.02	0.46733	.	0.660504	0.16364	N	0.217655	T	0.29355	0.0731	L	0.36672	1.1	0.80722	D	1	P;P	0.46784	0.884;0.884	P;P	0.44860	0.462;0.462	T	0.03503	-1.1030	9	0.25106	T	0.35	-0.4917	10.4358	0.44435	0.1947:0.8053:0.0:0.0	.	67;55	B4E1C1;Q9UER7	.;DAXX_HUMAN	D	55	.	ENSP00000266000:G55D	G	-	2	0	DAXX	33397517	0.869000	0.29996	0.983000	0.44433	0.735000	0.41995	1.033000	0.30191	1.281000	0.44480	0.549000	0.68633	GGC		0.602	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			7	1311	0	0	0	1	0	7	1311				
THRA	7067	broad.mit.edu	37	17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:38240101G>A	ENST00000264637.4	+	5	816	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000450525.2_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TTCTTTCGCCGCACAATCCAG	0.547																																						ENST00000450525.2																			2	Substitution - Missense(2)	p.R79H(2)	kidney(2)	endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11						c.(235-237)cGc>cAc		thyroid hormone receptor, alpha	Levothyroxine(DB00451)|Liothyronine(DB00279)						145.0	129.0	134.0					17																	38240101		2203	4300	6503	SO:0001583	missense	7067				negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr17:38240101G>A	J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.236G>A	17.37:g.38240101G>A	ENSP00000264637:p.Arg79His					THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000264637.4_Missense_Mutation_p.R79H	p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN			5	727	+	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)	79					A8K3B5|P21205|Q8N6A1|Q96H73	Missense_Mutation	SNP	ENST00000264637.4	37	c.236G>A	CCDS11360.1	.	.	.	.	.	.	.	.	.	.	G	32	5.125665	0.94429	.	.	ENSG00000126351	ENST00000394121;ENST00000264637;ENST00000450525;ENST00000546243	D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3	5.31	4.33	0.51752	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (5);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	H	0.99475	4.585	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.007	D;D;B	0.97110	1.0;1.0;0.007	D	0.97246	0.9894	10	0.87932	D	0	.	14.0146	0.64517	0.0753:0.0:0.9247:0.0	.	79;79;79	P10827-3;P10827;Q6FH41	.;THA_HUMAN;.	H	79	ENSP00000377679:R79H;ENSP00000264637:R79H;ENSP00000395641:R79H;ENSP00000443972:R79H	ENSP00000264637:R79H	R	+	2	0	THRA	35493627	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	7.932000	0.87634	2.477000	0.83638	0.430000	0.28490	CGC		0.547	THRA-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257160.2			5	495	0	0	0	1	0	5	495				
SETD6	79918	broad.mit.edu	37	16	58550831	58550831	+	Splice_Site	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:58550831C>T	ENST00000219315.4	+	5	841	c.791C>T	c.(790-792)gCg>gTg	p.A264V	SETD6_ENST00000310682.2_Splice_Site_p.A240V|SETD6_ENST00000394266.4_Splice_Site_p.A195V|SETD6_ENST00000418480.1_3'UTR			Q8TBK2	SETD6_HUMAN	SET domain containing 6	264	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of NF-kappaB transcription factor activity (GO:0032088)|peptidyl-lysine monomethylation (GO:0018026)|regulation of inflammatory response (GO:0050727)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	NF-kappaB binding (GO:0051059)|protein-lysine N-methyltransferase activity (GO:0016279)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						GAATACTCTGCGGTGAGTGGA	0.463																																						ENST00000394266.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						c.e6+1		SET domain containing 6							181.0	180.0	180.0					16																	58550831		2198	4300	6498	SO:0001630	splice_region_variant	79918				negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity	g.chr16:58550831C>T	AK024801	CCDS10798.1, CCDS54013.1	16q21	2008-02-05			ENSG00000103037	ENSG00000103037			26116	protein-coding gene	gene with protein product						12477932	Standard	NM_024860		Approved	FLJ21148	uc002ens.3	Q8TBK2	OTTHUMG00000150276	ENST00000219315.4:c.792+1C>T	16.37:g.58550831C>T						SETD6_ENST00000310682.2_Splice_Site_p.A240_splice|SETD6_ENST00000418480.1_3'UTR|SETD6_ENST00000219315.4_Splice_Site_p.A264_splice	p.A195_splice			Q8TBK2	SETD6_HUMAN			6	640	+			264			SET.		A8K380|B5ME38|Q9H787	Splice_Site	SNP	ENST00000219315.4	37	c.585_splice	CCDS54013.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.295317	0.60086	.	.	ENSG00000103037	ENST00000310682;ENST00000394266;ENST00000219315	T;T;T	0.14022	2.54;2.54;2.54	5.42	4.46	0.54185	SET domain (2);	0.231004	0.44097	D	0.000482	T	0.11965	0.0291	L	0.48642	1.525	0.36533	D	0.870835	P;P;P	0.42039	0.563;0.769;0.558	B;B;B	0.32724	0.039;0.151;0.023	T	0.17137	-1.0379	10	0.35671	T	0.21	-2.8694	14.3423	0.66636	0.1576:0.8424:0.0:0.0	.	240;264;240	E9PC53;Q8TBK2;Q8TBK2-2	.;SETD6_HUMAN;.	V	240;195;264	ENSP00000310082:A240V;ENSP00000377809:A195V;ENSP00000219315:A264V	ENSP00000219315:A264V	A	+	2	0	SETD6	57108332	0.966000	0.33281	0.999000	0.59377	0.365000	0.29674	2.801000	0.47908	1.237000	0.43756	0.491000	0.48974	GCG		0.463	SETD6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317274.2	NM_024860	Missense_Mutation	5	642	0	0	0	1	0	5	642				
MRPL15	29088	broad.mit.edu	37	8	55049226	55049226	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:55049226G>A	ENST00000260102.4	+	2	337		c.e2+1			NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15						translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			AAGGACATAGGTAAGGTTGCT	0.418																																						ENST00000260102.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10						c.e2+1		mitochondrial ribosomal protein L15							68.0	72.0	71.0					8																	55049226		2203	4300	6503	SO:0001630	splice_region_variant	29088				translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome	g.chr8:55049226G>A	AB051619	CCDS6158.1	8q11.2-q13	2012-09-13			ENSG00000137547	ENSG00000137547		"""Mitochondrial ribosomal proteins / large subunits"""	14054	protein-coding gene	gene with protein product		611828				11543634	Standard	NM_014175		Approved	RPML7, MRP-L7, HSPC145, L15mt, MRP-L15	uc003xsa.2	Q9P015	OTTHUMG00000164315	ENST00000260102.4:c.263+1G>A	8.37:g.55049226G>A								NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)		2	337	+		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)						Q96Q54|Q9H0Y1	Splice_Site	SNP	ENST00000260102.4	37		CCDS6158.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645927	0.67358	.	.	ENSG00000137547	ENST00000260102;ENST00000519831	.	.	.	5.05	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9287	0.70898	0.0:0.0:0.8558:0.1441	.	.	.	.	.	-1	.	.	.	+	.	.	MRPL15	55211779	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.855000	0.99526	1.326000	0.45319	-0.181000	0.13052	.		0.418	MRPL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378254.1	NM_014175	Intron	80	413	0	0	0	1	0	80	413				
NOS1	4842	broad.mit.edu	37	12	117728173	117728173	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:117728173C>T	ENST00000338101.4	-	3	915	c.911G>A	c.(910-912)cGc>cAc	p.R304H	NOS1_ENST00000317775.6_Missense_Mutation_p.R304H|NOS1_ENST00000344089.3_Missense_Mutation_p.A323T			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					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)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CTTGAGGAAGCGTGGACACTT	0.547																																					Esophageal Squamous(162;1748 2599 51982 52956)	ENST00000317775.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(910-912)cGc>cAc		nitric oxide synthase 1 (neuronal)	L-Citrulline(DB00155)						56.0	58.0	58.0					12																	117728173		2051	4194	6245	SO:0001583	missense	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117728173C>T		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.911G>A	12.37:g.117728173C>T	ENSP00000337459:p.Arg304His					NOS1_ENST00000344089.3_Missense_Mutation_p.A323T|NOS1_ENST00000338101.4_Missense_Mutation_p.R304H	p.R304H	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	4	1596	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		304						Missense_Mutation	SNP	ENST00000338101.4	37	c.911G>A	CCDS55890.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.8|23.8	4.454934|4.454934	0.84209|0.84209	.|.	.|.	ENSG00000089250|ENSG00000089250	ENST00000344089|ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T|T;T	0.05786|0.01629	3.39|4.77;4.72	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Nitric oxide synthase, oxygenase domain (1);	.|0.109676	.|0.64402	.|D	.|0.000008	T|T	0.09774|0.09774	0.0240|0.0240	M|M	0.73598|0.73598	2.24|2.24	0.39371|0.39371	D|D	0.96609|0.96609	.|D	.|0.89917	.|1.0	.|P	.|0.62560	.|0.904	T|T	0.00728|0.00728	-1.1591|-1.1591	7|10	0.87932|0.66056	D|D	0|0.02	-33.7598|-33.7598	18.7669|18.7669	0.91876|0.91876	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|304	.|P29475	.|NOS1_HUMAN	T|H	323|304	ENSP00000339862:A323T|ENSP00000320758:R304H;ENSP00000337459:R304H	ENSP00000339862:A323T|ENSP00000320758:R304H	A|R	-|-	1|2	0|0	NOS1|NOS1	116212556|116212556	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.382000|7.382000	0.79729|0.79729	2.680000|2.680000	0.91292|0.91292	0.467000|0.467000	0.42956|0.42956	GCT|CGC		0.547	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			40	200	0	0	0	1	0	40	200				
COTL1	23406	broad.mit.edu	37	16	84600451	84600451	+	Nonstop_Mutation	SNP	T	T	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:84600451T>G	ENST00000262428.4	-	4	591	c.429A>C	c.(427-429)taA>taC	p.*143Y	COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like F-actin binding protein 1	0					defense response to fungus (GO:0050832)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	actin binding (GO:0003779)|enzyme binding (GO:0019899)			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GGGGCTGGGGTTACTCCGTCT	0.622																																						ENST00000262428.4																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						c.(427-429)taA>taC		coactosin-like 1 (Dictyostelium)							37.0	39.0	38.0					16																	84600451		2198	4300	6498	SO:0001578	stop_lost	23406					cytoplasm|cytoskeleton	actin binding|enzyme binding	g.chr16:84600451T>G	L54057	CCDS10947.1	16q24.1	2014-03-05	2014-03-05	2002-08-01	ENSG00000103187	ENSG00000103187			18304	protein-coding gene	gene with protein product		606748	"""coactosin-like 1 (Dictyostelium)"""			10051563, 9326934, 16924104	Standard	NM_021149		Approved	CLP	uc002fid.3	Q14019	OTTHUMG00000137634	ENST00000262428.4:c.429A>C	16.37:g.84600451T>G						COTL1_ENST00000564057.1_Nonstop_Mutation_p.*74Y|COTL1_ENST00000567278.1_5'UTR	p.*143Y	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN			4	591	-			0					B2RDU3|D3DUL9|Q86XM5	Nonstop_Mutation	SNP	ENST00000262428.4	37	c.429A>C	CCDS10947.1	.	.	.	.	.	.	.	.	.	.	T	5.605	0.296286	0.10622	.	.	ENSG00000103187	ENST00000262428	.	.	.	5.04	1.29	0.21616	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.4446	0.27203	0.0:0.342:0.0:0.658	.	.	.	.	Y	143	.	.	X	-	3	2	COTL1	83157952	0.029000	0.19370	0.896000	0.35187	0.170000	0.22686	0.122000	0.15687	-0.053000	0.13289	-0.441000	0.05720	TAA		0.622	COTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269075.1	NM_021149		12	113	0	0	0	1	0	12	113				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170029	20170029	+	RNA	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:20170029C>T	ENST00000338912.5	-	0	242									immunoglobulin heavy variable 1/OR15-9 (non-functional)																		CCTGGAACTTCTGTGCATAGC	0.547																																						ENST00000338912.5																			0																				159.0	154.0	156.0					15																	20170029		2104	4233	6337			0							g.chr15:20170029C>T	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170029C>T														0	242	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			6	614	0	0	0	1	0	6	614				
NACA	4666	broad.mit.edu	37	12	57108169	57108169	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:57108169G>A	ENST00000454682.1	-	5	6081	c.5800C>T	c.(5800-5802)Cgg>Tgg	p.R1934W	NACA_ENST00000550952.1_Missense_Mutation_p.R781W|NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000546392.1_Missense_Mutation_p.R71W|NACA_ENST00000552540.1_Missense_Mutation_p.R71W	NM_001113203.2	NP_001106674.2	E9PAV3	NACAM_HUMAN	nascent polypeptide-associated complex alpha subunit	1934	NAC-A/B. {ECO:0000255|PROSITE- ProRule:PRU00507}.|Required for DNA-binding. {ECO:0000250}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTTCACTCCGACTCTGTTTT	0.388			T	BCL6	NHL																																	ENST00000454682.1				Dom	yes		12	12q23-q24.1	4666	T	nascent-polypeptide-associated complex alpha polypeptide			L	BCL6		NHL		0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(5800-5802)Cgg>Tgg		nascent polypeptide-associated complex alpha subunit							137.0	122.0	127.0					12																	57108169		2203	4299	6502	SO:0001583	missense	4666				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding	g.chr12:57108169G>A	X80909	CCDS31837.1, CCDS44925.1, CCDS44925.2	12q23-q24.1	2008-09-05	2007-04-20		ENSG00000196531	ENSG00000196531			7629	protein-coding gene	gene with protein product		601234	"""nascent-polypeptide-associated complex alpha polypeptide"""			8047162	Standard	NM_001113202		Approved	NACA1	uc001sma.2	E9PAV3		ENST00000454682.1:c.5800C>T	12.37:g.57108169G>A	ENSP00000403817:p.Arg1934Trp					NACA_ENST00000546392.1_Missense_Mutation_p.R71W|NACA_ENST00000548563.1_5'UTR|NACA_ENST00000393891.4_Missense_Mutation_p.R71W|NACA_ENST00000356769.3_Missense_Mutation_p.R71W|NACA_ENST00000551793.1_5'UTR|NACA_ENST00000552540.1_Missense_Mutation_p.R71W|NACA_ENST00000550952.1_Missense_Mutation_p.R781W	p.R1934W	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN			5	6081	-			71						Missense_Mutation	SNP	ENST00000454682.1	37	c.5800C>T		.	.	.	.	.	.	.	.	.	.	G	14.69	2.611275	0.46631	.	.	ENSG00000196531	ENST00000550920;ENST00000454682;ENST00000550952;ENST00000356769;ENST00000552540;ENST00000393891;ENST00000546392;ENST00000549259;ENST00000552055;ENST00000549855	T;T;T;T;T;T;T;T;T;T	0.67345	0.14;-0.1;-0.26;0.16;0.16;0.16;0.16;0.18;0.0;0.03	4.73	3.82	0.43975	Nascent polypeptide-associated complex NAC (1);	0.000000	0.85682	D	0.000000	D	0.83175	0.5197	H	0.95151	3.63	0.53688	D	0.999979	P;D;B	0.59767	0.946;0.986;0.008	P;P;B	0.57960	0.523;0.83;0.002	D	0.86446	0.1770	10	0.87932	D	0	.	11.0665	0.47979	0.0:0.0:0.663:0.337	.	1934;781;71	E9PAV3;F8VU71;Q13765	.;.;NACA_HUMAN	W	69;1934;781;71;71;71;71;71;67;71	ENSP00000448039:R69W;ENSP00000403817:R1934W;ENSP00000448035:R781W;ENSP00000349212:R71W;ENSP00000447821:R71W;ENSP00000377469:R71W;ENSP00000446801:R71W;ENSP00000447133:R71W;ENSP00000450383:R67W;ENSP00000447764:R71W	ENSP00000349212:R71W	R	-	1	2	NACA	55394436	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.742000	0.47434	0.938000	0.37419	0.460000	0.39030	CGG		0.388	NACA-201	KNOWN	basic	protein_coding	protein_coding		NM_005594		25	279	0	0	0	1	0	25	279				
CCDC108	255101	broad.mit.edu	37	2	219870881	219870881	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219870881G>T	ENST00000341552.5	-	31	4867	c.4784C>A	c.(4783-4785)cCa>cAa	p.P1595Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1595Q|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1595Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1595						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCTCCTTTGGGGTCTGCAG	0.622																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4783-4785)cCa>cAa		coiled-coil domain containing 108							56.0	64.0	61.0					2																	219870881		2203	4300	6503	SO:0001583	missense	255101					integral to membrane	structural molecule activity	g.chr2:219870881G>T	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4784C>A	2.37:g.219870881G>T	ENSP00000340776:p.Pro1595Gln					CCDC108_ENST00000453220.1_Missense_Mutation_p.P1595Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1595Q|AC097468.4_ENST00000441450.1_RNA	p.P1595Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	31	4867	-		Renal(207;0.0915)	1595					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	ENST00000341552.5	37	c.4784C>A	CCDS2430.2	.	.	.	.	.	.	.	.	.	.	G	6.343	0.431430	0.12045	.	.	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.04917	3.53;3.53;3.53	5.56	3.73	0.42828	.	1.183400	0.06364	N	0.712220	T	0.08223	0.0205	L	0.48642	1.525	0.09310	N	1	B	0.19935	0.04	B	0.17979	0.02	T	0.42310	-0.9459	10	0.30854	T	0.27	0.573	8.21	0.31478	0.0809:0.3029:0.6162:0.0	.	1595	Q6ZU64	CC108_HUMAN	Q	1595	ENSP00000340776:P1595Q;ENSP00000413377:P1595Q;ENSP00000409117:P1595Q	ENSP00000340776:P1595Q	P	-	2	0	CCDC108	219579125	0.055000	0.20627	0.001000	0.08648	0.215000	0.24574	2.473000	0.45145	0.681000	0.31386	0.655000	0.94253	CCA		0.622	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		55	504	1	0	7.89702e-26	1	8.45446e-26	55	504				
HPS1	3257	broad.mit.edu	37	10	100185374	100185374	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:100185374C>T	ENST00000325103.6	-	13	1492	c.1259G>A	c.(1258-1260)cGc>cAc	p.R420H	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Missense_Mutation_p.R420H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	420					blood coagulation (GO:0007596)|eye pigmentation (GO:0048069)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of natural killer cell activation (GO:0032816)|retina development in camera-type eye (GO:0060041)|secretion of lysosomal enzymes (GO:0033299)|visual perception (GO:0007601)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	protein dimerization activity (GO:0046983)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		GGGCTGGGAGCGCAGGGAGGC	0.637									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000325103.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(1258-1260)cGc>cAc		Hermansky-Pudlak syndrome 1							48.0	41.0	43.0					10																	100185374		2203	4300	6503	SO:0001583	missense	3257	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity	g.chr10:100185374C>T	U79136	CCDS7475.1, CCDS7476.1	10q23.1-q23.3	2014-06-18		2002-05-01	ENSG00000107521	ENSG00000107521			5163	protein-coding gene	gene with protein product		604982	"""Hermansky-Pudlak syndrome"""	HPS		8541858, 7573033	Standard	NM_182639		Approved		uc021pwv.1	Q92902	OTTHUMG00000018876	ENST00000325103.6:c.1259G>A	10.37:g.100185374C>T	ENSP00000326649:p.Arg420His		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1349	HPS1_ENST00000361490.4_Missense_Mutation_p.R420H|HPS1_ENST00000467246.1_5'UTR	p.R420H	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)	13	1492	-		Colorectal(252;0.234)	420					A8MRT2|O15402|O15502|Q5TAA3|Q8WXE5	Missense_Mutation	SNP	ENST00000325103.6	37	c.1259G>A	CCDS7475.1	.	.	.	.	.	.	.	.	.	.	C	19.92	3.916483	0.73098	.	.	ENSG00000107521	ENST00000325103;ENST00000361490;ENST00000407891;ENST00000359632	T;T;T	0.33438	1.41;1.41;1.41	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.59238	0.2179	M	0.77616	2.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;0.999;1.0	T	0.60125	-0.7324	10	0.48119	T	0.1	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	58;387;420;420	Q658M9;Q92902-2;Q8WXE5;D3DR62	.;.;.;.	H	420;420;387;215	ENSP00000326649:R420H;ENSP00000355310:R420H;ENSP00000352652:R215H	ENSP00000326649:R420H	R	-	2	0	HPS1	100175364	1.000000	0.71417	1.000000	0.80357	0.014000	0.08584	5.418000	0.66429	2.524000	0.85096	0.561000	0.74099	CGC		0.637	HPS1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049776.1	NM_000195, NM_182637, NM_182638, NM_182639		25	167	0	0	0	1	0	25	167				
KLK15	55554	broad.mit.edu	37	19	51330167	51330167	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:51330167C>G	ENST00000598239.1	-	3	478	c.448G>C	c.(448-450)Gag>Cag	p.E150Q	KLK15_ENST00000596931.1_Missense_Mutation_p.E149Q|KLK15_ENST00000326856.4_Missense_Mutation_p.E149Q|KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q|KLK15_ENST00000416184.1_Intron	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	150	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.			SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2). {ECO:0000305}.		extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTCCCAGGCTCGTTGTGGGAC	0.687																																					Pancreas(140;10 2513 7143 9246)	ENST00000326856.4																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24						c.(445-447)Gag>Cag		kallikrein-related peptidase 15							28.0	30.0	29.0					19																	51330167		2202	4300	6502	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330167C>G	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.448G>C	19.37:g.51330167C>G	ENSP00000469315:p.Glu150Gln					KLK15_ENST00000301421.2_Missense_Mutation_p.E150Q|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000598239.1_Missense_Mutation_p.E150Q|KLK15_ENST00000596931.1_Missense_Mutation_p.E149Q	p.E149Q	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	4	574	-		all_neural(266;0.057)	150	SHNEPGTAGSPRSQ -> PLSSP (in Ref. 2).		Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.445G>C	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	9.453	1.091027	0.20471	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88741	-2.42	4.5	-5.03	0.02973	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	1.995620	0.02210	N	0.063038	T	0.81317	0.4797	N	0.14661	0.345	0.09310	N	1	B;B;B	0.25719	0.132;0.003;0.002	B;B;B	0.34652	0.187;0.013;0.004	T	0.69060	-0.5245	10	0.15952	T	0.53	.	12.5901	0.56437	0.0:0.1856:0.0:0.8144	.	150;149;150	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	Q	150	ENSP00000301421:E150Q	ENSP00000301421:E150Q	E	-	1	0	KLK15	56021979	0.000000	0.05858	0.000000	0.03702	0.042000	0.13812	-0.363000	0.07593	-0.801000	0.04427	0.555000	0.69702	GAG		0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509		67	255	0	0	0	1	0	67	255				
TMEM198	130612	broad.mit.edu	37	2	220414551	220414551	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:220414551G>T	ENST00000344458.2	+	6	1643	c.1058G>T	c.(1057-1059)tGc>tTc	p.C353F	MIR3132_ENST00000581997.1_RNA|TMEM198_ENST00000373883.3_Missense_Mutation_p.C353F|RP11-256I23.1_ENST00000596829.1_RNA			Q66K66	TM198_HUMAN	transmembrane protein 198	353					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CTGACAGCCTGCTCAGGCCCC	0.627																																						ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(1057-1059)tGc>tTc		transmembrane protein 198							53.0	60.0	58.0					2																	220414551		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220414551G>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.1058G>T	2.37:g.220414551G>T	ENSP00000343507:p.Cys353Phe					TMEM198_ENST00000373883.3_Missense_Mutation_p.C353F	p.C353F			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	6	1643	+		Renal(207;0.0376)	353						Missense_Mutation	SNP	ENST00000344458.2	37	c.1058G>T	CCDS33385.1	.	.	.	.	.	.	.	.	.	.	G	13.93	2.385363	0.42308	.	.	ENSG00000188760	ENST00000344458;ENST00000373883	.	.	.	5.1	5.1	0.69264	.	0.567610	0.18237	N	0.147345	T	0.41442	0.1159	N	0.08118	0	0.42499	D	0.992924	B	0.29909	0.261	B	0.28139	0.086	T	0.41288	-0.9517	9	0.46703	T	0.11	-22.6022	18.6999	0.91617	0.0:0.0:1.0:0.0	.	353	Q66K66	TM198_HUMAN	F	353	.	ENSP00000343507:C353F	C	+	2	0	TMEM198	220122795	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	3.327000	0.52045	2.824000	0.97209	0.655000	0.94253	TGC		0.627	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		42	475	1	0	6.68952e-21	1	7.10599e-21	42	475				
SIGLEC5	8778	broad.mit.edu	37	19	52132769	52132769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:52132769G>A	ENST00000534261.2	-	4	941	c.542C>T	c.(541-543)aCg>aTg	p.T181M	SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T181M|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000222107.4_Missense_Mutation_p.T181M|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T181M			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	181	Ig-like C2-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GGCATTCCCCGTCCAGGAGAA	0.657																																						ENST00000222107.4																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						c.(541-543)aCg>aTg		sialic acid binding Ig-like lectin 5							10.0	11.0	11.0					19																	52132769		2179	4236	6415	SO:0001583	missense	8778				cell adhesion	integral to membrane	sugar binding	g.chr19:52132769G>A	U71383	CCDS33088.1	19q13.41	2013-01-29			ENSG00000105501	ENSG00000105501		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10874	protein-coding gene	gene with protein product		604200		CD33L2		10343116	Standard	NM_003830		Approved	OB-BP2, SIGLEC-5, CD170	uc002pxe.4	O15389	OTTHUMG00000165510	ENST00000534261.2:c.542C>T	19.37:g.52132769G>A	ENSP00000473238:p.Thr181Met					SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T181M|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T181M|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T181M	p.T181M			O15389	SIGL5_HUMAN		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)	3	680	-		all_neural(266;0.0726)	181			Ig-like C2-type 1.			Missense_Mutation	SNP	ENST00000534261.2	37	c.542C>T	CCDS33088.1	.	.	.	.	.	.	.	.	.	.	g	2.485	-0.318873	0.05386	.	.	ENSG00000105501	ENST00000222107;ENST00000429354	T;T	0.22743	1.94;1.94	3.83	-7.65	0.01281	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	3.012550	0.01183	N	0.007122	T	0.11067	0.0270	N	0.16266	0.395	0.09310	N	1	P	0.40660	0.726	B	0.39068	0.289	T	0.14364	-1.0475	10	0.15066	T	0.55	.	7.7193	0.28723	0.6524:0.0:0.1321:0.2155	.	181	O15389	SIGL5_HUMAN	M	181	ENSP00000222107:T181M;ENSP00000415200:T181M	ENSP00000222107:T181M	T	-	2	0	SIGLEC5	56824581	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-4.692000	0.00198	-2.466000	0.00533	-0.948000	0.02665	ACG		0.657	SIGLEC5-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466897.2	NM_003830		25	64	0	0	0	1	0	25	64				
YY2	404281	broad.mit.edu	37	X	21875407	21875407	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:21875407G>A	ENST00000429584.2	+	1	1303	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	269	Mediates transcriptional repression.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CCGGGATTACGCCGCCATGAG	0.498																																						ENST00000429584.2																			0				breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						c.(805-807)Gcc>Acc		YY2 transcription factor							120.0	121.0	120.0					X																	21875407		2203	4300	6503	SO:0001583	missense	404281				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding	g.chrX:21875407G>A	AK091850	CCDS14202.1	Xp22.2-p22.1	2011-02-11			ENSG00000230797	ENSG00000230797		"""Zinc fingers, C2H2-type"""	31684	protein-coding gene	gene with protein product	"""transcription factor yin yang 2"""	300570				14702039	Standard	NM_206923		Approved	ZNF631	uc011mjp.2	O15391	OTTHUMG00000021236	ENST00000429584.2:c.805G>A	X.37:g.21875407G>A	ENSP00000389381:p.Ala269Thr					MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Intron	p.A269T	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN			1	1303	+			269			Mediates transcriptional repression.		B2RP10|Q6Q1S4	Missense_Mutation	SNP	ENST00000429584.2	37	c.805G>A	CCDS14202.1	.	.	.	.	.	.	.	.	.	.	G	8.818	0.936828	0.18206	.	.	ENSG00000230797	ENST00000429584	T	0.09911	2.93	4.52	-4.78	0.03209	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.061473	0.64402	U	0.000002	T	0.04815	0.0130	N	0.12887	0.27	0.09310	N	1	B	0.16802	0.019	B	0.12156	0.007	T	0.26503	-1.0101	10	0.66056	D	0.02	.	9.1848	0.37163	0.0:0.0806:0.4624:0.457	.	269	O15391	TYY2_HUMAN	T	269	ENSP00000389381:A269T	ENSP00000389381:A269T	A	+	1	0	YY2	21785328	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.195000	0.17155	-0.747000	0.04759	-1.198000	0.01671	GCC		0.498	YY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056025.1	NM_206923		5	548	0	0	0	1	0	5	548				
SUSD4	55061	broad.mit.edu	37	1	223465929	223465929	+	Silent	SNP	G	G	A	rs148470082	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:223465929G>A	ENST00000343846.3	-	2	846	c.213C>T	c.(211-213)agC>agT	p.S71S	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.S71S|SUSD4_ENST00000366878.4_Silent_p.S71S|SUSD4_ENST00000494793.2_Silent_p.S71S|SUSD4_ENST00000484758.2_Intron			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	71	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AAACCCCTCCGCTGGGGGTCC	0.498													G|||	9	0.00179712	0.0	0.0	5008	,	,		18555	0.0		0.0	False		,,,				2504	0.0092					ENST00000343846.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17						c.(211-213)agC>agT		sushi domain containing 4		G	,	0,4406		0,0,2203	63.0	73.0	70.0		213,213	-6.6	0.0	1	dbSNP_134	70	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	SUSD4	NM_001037175.2,NM_017982.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	71/291,71/491	223465929	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	55061					integral to membrane		g.chr1:223465929G>A	AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.213C>T	1.37:g.223465929G>A						SUSD4_ENST00000344029.6_Silent_p.S71S|SUSD4_ENST00000366878.4_Silent_p.S71S|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000478605.1_5'UTR	p.S71S			Q5VX71	SUSD4_HUMAN		GBM - Glioblastoma multiforme(131;0.0611)	2	846	-			71			Sushi 1.		D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	ENST00000343846.3	37	c.213C>T	CCDS41471.1																																																																																				0.498	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092592.2	NM_017982		43	464	0	0	0	1	0	43	464				
SLC1A5	6510	broad.mit.edu	37	19	47278927	47278927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:47278927G>A	ENST00000542575.2	-	8	2094	c.1466C>T	c.(1465-1467)aCg>aTg	p.T489M	SLC1A5_ENST00000412532.2_Missense_Mutation_p.T261M|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000594991.1_Missense_Mutation_p.T313M|SLC1A5_ENST00000434726.2_Missense_Mutation_p.T287M	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	489					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	TCTCGACTCCGTACGGTCCAC	0.557																																						ENST00000542575.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13						c.(1465-1467)aCg>aTg		solute carrier family 1 (neutral amino acid transporter), member 5	L-Asparagine(DB00174)|L-Glutamine(DB00130)						123.0	110.0	115.0					19																	47278927		2203	4300	6503	SO:0001583	missense	6510				cellular nitrogen compound metabolic process	integral to plasma membrane|melanosome|membrane fraction	neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity	g.chr19:47278927G>A	U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1466C>T	19.37:g.47278927G>A	ENSP00000444408:p.Thr489Met					SLC1A5_ENST00000412532.2_Missense_Mutation_p.T261M|SLC1A5_ENST00000594991.1_Missense_Mutation_p.T313M|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Missense_Mutation_p.T287M	p.T489M	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	8	2094	-		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)	489					A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	ENST00000542575.2	37	c.1466C>T	CCDS12692.1	.	.	.	.	.	.	.	.	.	.	-	14.19	2.461996	0.43736	.	.	ENSG00000105281	ENST00000542575;ENST00000434726;ENST00000412532;ENST00000306894	T;T;T	0.65549	0.64;-0.16;-0.15	4.88	1.33	0.21861	.	1.752340	0.02522	N	0.092658	T	0.60881	0.2303	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51057	0.888;0.941;0.941	B;P;P	0.52514	0.405;0.701;0.701	T	0.53927	-0.8369	10	0.72032	D	0.01	-24.3981	7.7884	0.29106	0.079:0.0:0.6355:0.2855	.	287;489;489	E9PC01;Q15758;Q71UA6	.;AAAT_HUMAN;.	M	489;287;261;496	ENSP00000444408:T489M;ENSP00000406532:T287M;ENSP00000397924:T261M	ENSP00000303623:T496M	T	-	2	0	SLC1A5	51970767	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	0.384000	0.20668	0.640000	0.30582	0.550000	0.68814	ACG		0.557	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466630.1			6	983	0	0	0	1	0	6	983				
TCF23	150921	broad.mit.edu	37	2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:27373157G>A	ENST00000296096.5	+	2	519	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN	transcription factor 23	130					cell differentiation (GO:0030154)|muscle organ development (GO:0007517)	nucleus (GO:0005634)				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652																																						ENST00000296096.5																			0				large_intestine(2)|lung(11)|prostate(1)	14						c.(388-390)cGc>cAc		transcription factor 23							103.0	111.0	108.0					2																	27373157		2203	4299	6502	SO:0001583	missense	150921				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus		g.chr2:27373157G>A	AC013403	CCDS33163.1	2p23.3	2013-05-21			ENSG00000163792	ENSG00000163792		"""Basic helix-loop-helix proteins"""	18602	protein-coding gene	gene with protein product		609635				11701948, 10652346	Standard	NM_175769		Approved	OUT, bHLHa24	uc010ylg.2	Q7RTU1	OTTHUMG00000152031	ENST00000296096.5:c.389G>A	2.37:g.27373157G>A	ENSP00000296096:p.Arg130His						p.R130H	NM_175769.2	NP_786951.1	Q7RTU1	TCF23_HUMAN			2	519	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		130			Helix-loop-helix motif.		B2RNZ3	Missense_Mutation	SNP	ENST00000296096.5	37	c.389G>A	CCDS33163.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.314556	0.81358	.	.	ENSG00000163792	ENST00000296096	D	0.88664	-2.41	5.66	4.68	0.58851	Helix-loop-helix DNA-binding (3);	0.207035	0.38959	N	0.001517	T	0.75265	0.3826	N	0.17800	0.525	0.27751	N	0.944151	B	0.33841	0.428	B	0.20577	0.03	T	0.68689	-0.5342	10	0.52906	T	0.07	-9.1222	5.2608	0.15571	0.2355:0.0:0.7645:0.0	.	130	Q7RTU1	TCF23_HUMAN	H	130	ENSP00000296096:R130H	ENSP00000296096:R130H	R	+	2	0	TCF23	27226661	0.149000	0.22717	0.996000	0.52242	0.968000	0.65278	0.691000	0.25467	2.680000	0.91292	0.561000	0.74099	CGC		0.652	TCF23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324980.1	NM_175769		9	1084	0	0	0	1	0	9	1084				
KIAA1377	57562	broad.mit.edu	37	11	101868356	101868356	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:101868356C>G	ENST00000263468.8	+	11	3606	c.3336C>G	c.(3334-3336)agC>agG	p.S1112R	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S913R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1112										breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAACCAGCAGCTGCAGAGACA	0.433																																						ENST00000263468.8																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53						c.(3334-3336)agC>agG		KIAA1377							167.0	160.0	162.0					11																	101868356		2203	4299	6502	SO:0001583	missense	57562						protein binding	g.chr11:101868356C>G	AK095004	CCDS31658.1	11q22.2	2006-02-03			ENSG00000110318	ENSG00000110318			29264	protein-coding gene	gene with protein product		614634				10718198	Standard	XM_005271627		Approved		uc001pgm.3	Q9P2H0	OTTHUMG00000167319	ENST00000263468.8:c.3336C>G	11.37:g.101868356C>G	ENSP00000263468:p.Ser1112Arg					KIAA1377_ENST00000537689.1_Missense_Mutation_p.S913R	p.S1112R	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.038)	11	3606	+	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)	1112					Q4G0U6	Missense_Mutation	SNP	ENST00000263468.8	37	c.3336C>G	CCDS31658.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	1.069|1.069	-0.670595|-0.670595	0.03403|0.03403	.|.	.|.	ENSG00000110318|ENSG00000110318	ENST00000532077|ENST00000263468;ENST00000537689	.|T;T	.|0.08458	.|3.24;3.09	1.32|1.32	0.388|0.388	0.16264|0.16264	.|.	.|0.867104	.|0.09375	.|N	.|0.810733	T|T	0.02767|0.02767	0.0083|0.0083	N|N	0.02539|0.02539	-0.55|-0.55	0.09310|0.09310	N|N	1|1	.|B	.|0.30889	.|0.299	.|B	.|0.26614	.|0.071	T|T	0.42849|0.42849	-0.9427|-0.9427	5|10	.|0.34782	.|T	.|0.22	2.2351|2.2351	3.8091|3.8091	0.08789|0.08789	0.0:0.752:0.0:0.248|0.0:0.752:0.0:0.248	.|.	.|1112	.|Q9P2H0	.|K1377_HUMAN	V|R	76|1112;913	.|ENSP00000263468:S1112R;ENSP00000443184:S913R	.|ENSP00000263468:S1112R	L|S	+|+	1|3	2|2	KIAA1377|KIAA1377	101373566|101373566	0.001000|0.001000	0.12720|0.12720	0.022000|0.022000	0.16811|0.16811	0.008000|0.008000	0.06430|0.06430	-0.042000|-0.042000	0.12063|0.12063	0.109000|0.109000	0.17891|0.17891	-0.444000|-0.444000	0.05651|0.05651	CTG|AGC		0.433	KIAA1377-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394140.1	NM_020802		6	348	0	0	0	1	0	6	348				
RIN2	54453	broad.mit.edu	37	20	19970910	19970910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:19970910C>A	ENST00000255006.6	+	9	2319	c.2170C>A	c.(2170-2172)Ctg>Atg	p.L724M	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.L242M	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	675	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CATGCTGCTGCTGCGGGTCTG	0.557																																						ENST00000255006.6																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						c.(2170-2172)Ctg>Atg		Ras and Rab interactor 2							44.0	45.0	45.0					20																	19970910		2065	4206	6271	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19970910C>A	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.2170C>A	20.37:g.19970910C>A	ENSP00000255006:p.Leu724Met					RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Missense_Mutation_p.L242M	p.L724M	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN			9	2319	+			675			VPS9.		Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.2170C>A	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	19.53	3.845521	0.71603	.	.	ENSG00000132669	ENST00000255006;ENST00000440354	T;T	0.36699	1.24;1.24	5.83	2.72	0.32119	Vacuolar sorting protein 9, subgroup (1);Vacuolar sorting protein 9 (2);	0.000000	0.85682	D	0.000000	T	0.62490	0.2432	M	0.88704	2.975	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.64554	-0.6380	9	.	.	.	-20.4278	10.7252	0.46064	0.0:0.7838:0.0:0.2162	.	242;675	E7EPJ1;Q8WYP3	.;RIN2_HUMAN	M	724;242	ENSP00000255006:L724M;ENSP00000391239:L242M	.	L	+	1	2	RIN2	19918910	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	1.382000	0.34374	0.313000	0.23062	-0.194000	0.12790	CTG		0.557	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			15	123	1	0	2.48551e-13	1	2.58986e-13	15	123				
SLC6A18	348932	broad.mit.edu	37	5	1246093	1246093	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:1246093G>A	ENST00000324642.3	+	12	1910	c.1787G>A	c.(1786-1788)cGg>cAg	p.R596Q		NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	596					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGGCGGAGGCGGACGTGGAGG	0.731																																						ENST00000324642.3																			0				endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34						c.(1786-1788)cGg>cAg		solute carrier family 6 (neutral amino acid transporter), member 18							14.0	17.0	16.0					5																	1246093		2196	4279	6475	SO:0001583	missense	348932				cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	g.chr5:1246093G>A	AK055798	CCDS3860.1	5p15	2013-07-19	2013-07-19		ENSG00000164363	ENSG00000164363		"""Solute carriers"""	26441	protein-coding gene	gene with protein product		610300	"""solute carrier family 6 (neurotransmitter transporter), member 18"", ""solute carrier family 6, member 18"""			19478081	Standard	NM_182632		Approved	FLJ31236, Xtrp2	uc003jby.2	Q96N87	OTTHUMG00000090356	ENST00000324642.3:c.1787G>A	5.37:g.1246093G>A	ENSP00000323549:p.Arg596Gln						p.R596Q	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)		12	1910	+	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		596						Missense_Mutation	SNP	ENST00000324642.3	37	c.1787G>A	CCDS3860.1	.	.	.	.	.	.	.	.	.	.	G	7.231	0.599235	0.13939	.	.	ENSG00000164363	ENST00000324642	T	0.74002	-0.8	4.41	0.824	0.18818	.	6.616820	0.01082	N	0.005003	T	0.53077	0.1774	N	0.08118	0	0.09310	N	0.999999	B	0.21147	0.052	B	0.06405	0.002	T	0.41592	-0.9500	10	0.12766	T	0.61	.	6.3418	0.21327	0.4495:0.0:0.5505:0.0	.	596	Q96N87	S6A18_HUMAN	Q	596	ENSP00000323549:R596Q	ENSP00000323549:R596Q	R	+	2	0	SLC6A18	1299093	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.408000	0.02485	-0.179000	0.10654	0.305000	0.20034	CGG		0.731	SLC6A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206728.3	NM_182632		9	141	0	0	0	1	0	9	141				
GYS2	2998	broad.mit.edu	37	12	21733405	21733405	+	Silent	SNP	T	T	C	rs553711100		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21733405T>C	ENST00000261195.2	-	2	428	c.174A>G	c.(172-174)gaA>gaG	p.E58E		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	58					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCTCTCCCCATTCATCTGCTG	0.378													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20433	0.0		0.0	False		,,,				2504	0.0				Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			0				NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(172-174)gaA>gaG		glycogen synthase 2 (liver)							193.0	184.0	187.0					12																	21733405		2203	4300	6503	SO:0001819	synonymous_variant	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21733405T>C		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.174A>G	12.37:g.21733405T>C							p.E58E	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			2	428	-			58					A0AVD8	Silent	SNP	ENST00000261195.2	37	c.174A>G	CCDS8690.1																																																																																				0.378	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		22	590	0	0	0	1	0	22	590				
ANKRD30A	91074	broad.mit.edu	37	10	37508147	37508147	+	Missense_Mutation	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:37508147A>T	ENST00000602533.1	+	34	3438	c.3339A>T	c.(3337-3339)aaA>aaT	p.K1113N	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K1232N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1113N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1169					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			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						GGCAGCTTAAAGTTCTGATAG	0.353																																						ENST00000374660.1																			0				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						c.(3694-3696)aaA>aaT		ankyrin repeat domain 30A							121.0	121.0	121.0					10																	37508147		1835	4081	5916	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508147A>T	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.3339A>T	10.37:g.37508147A>T	ENSP00000473551:p.Lys1113Asn					ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K1113N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K1113N	p.K1232N			Q9BXX3	AN30A_HUMAN			40	3795	+			1170					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3696A>T		.	.	.	.	.	.	.	.	.	.	a	0	-2.770045	0.00081	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.11385	2.78;2.78	2.81	-1.34	0.09143	.	.	.	.	.	T	0.03011	0.0089	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.41288	-0.9517	9	0.02654	T	1	.	0.8546	0.01179	0.1973:0.1254:0.1857:0.4916	.	1169	Q9BXX3	AN30A_HUMAN	N	1113;1232	ENSP00000354432:K1113N;ENSP00000363792:K1232N	ENSP00000354432:K1113N	K	+	3	2	ANKRD30A	37548153	0.893000	0.30496	0.000000	0.03702	0.001000	0.01503	1.090000	0.30902	-0.603000	0.05767	-0.457000	0.05445	AAA		0.353	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		130	641	0	0	0	1	0	130	641				
CLTCL1	8218	broad.mit.edu	37	22	19220769	19220769	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:19220769G>A	ENST00000263200.10	-	9	1513	c.1441C>T	c.(1441-1443)Cgg>Tgg	p.R481W	CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W|CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	481	Flexible linker.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.R481W(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACATTTGCCCGAAGGTACACA	0.498			T	?	ALCL																																	ENST00000263200.10				Dom	yes		22	22q11.21	8218	T	"""clathrin, heavy polypeptide-like 1"""			L	?		ALCL		1	Substitution - Missense(1)	p.R481W(1)	large_intestine(1)	breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1441-1443)Cgg>Tgg		clathrin, heavy chain-like 1							143.0	140.0	141.0					22																	19220769		1960	4163	6123	SO:0001583	missense	8218				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity	g.chr22:19220769G>A		CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.1441C>T	22.37:g.19220769G>A	ENSP00000445677:p.Arg481Trp					CLTCL1_ENST00000427926.1_Missense_Mutation_p.R481W|CLTCL1_ENST00000353891.5_Missense_Mutation_p.R481W	p.R481W	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN			9	1513	-	Colorectal(54;0.0993)		481			Flexible linker.		B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	ENST00000263200.10	37	c.1441C>T	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	G	17.00	3.276926	0.59758	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.52295	0.67;0.67;0.67	3.92	2.89	0.33648	Armadillo-type fold (2);	0.000000	0.64402	D	0.000002	T	0.72724	0.3496	M	0.93106	3.38	0.58432	D	0.999991	D;D	0.76494	0.997;0.999	D;D	0.74674	0.984;0.947	T	0.79072	-0.1953	10	0.87932	D	0	-21.811	11.9849	0.53142	0.0867:0.0:0.9133:0.0	.	481;481	P53675-2;P53675	.;CLH2_HUMAN	W	481	ENSP00000439662:R481W;ENSP00000445677:R481W;ENSP00000441158:R481W	ENSP00000445677:R481W	R	-	1	2	CLTCL1	17600769	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	2.512000	0.45485	0.982000	0.38575	0.591000	0.81541	CGG		0.498	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098		6	737	0	0	0	1	0	6	737				
TTC19	54902	broad.mit.edu	37	17	15903527	15903527	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:15903527G>A	ENST00000261647.5	+	2	749	c.280G>A	c.(280-282)Gca>Aca	p.A94T	ZSWIM7_ENST00000399277.1_5'Flank|TTC19_ENST00000497842.2_3'UTR|TTC19_ENST00000486880.2_Missense_Mutation_p.A215T|ZSWIM7_ENST00000399280.2_5'Flank|ZSWIM7_ENST00000472495.1_5'Flank|ZSWIM7_ENST00000486655.1_5'Flank	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19	94					cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CGAGGCCGAGGCAGAGATCAT	0.731																																						ENST00000261647.5																			0				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5						c.(280-282)Gca>Aca		tetratricopeptide repeat domain 19							12.0	19.0	16.0					17																	15903527		2179	4260	6439	SO:0001583	missense	54902				cell cycle|cytokinesis|mitochondrial respiratory chain complex III assembly	centrosome|midbody|mitochondrial inner membrane	protein binding	g.chr17:15903527G>A	AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.280G>A	17.37:g.15903527G>A	ENSP00000261647:p.Ala94Thr					TTC19_ENST00000486880.2_Missense_Mutation_p.A215T|TTC19_ENST00000497842.2_3'UTR	p.A94T	NM_017775.3	NP_060245.3	Q6DKK2	TTC19_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)	2	749	+			94					A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Missense_Mutation	SNP	ENST00000261647.5	37	c.280G>A	CCDS11174.2	.	.	.	.	.	.	.	.	.	.	G	11.61	1.688773	0.29962	.	.	ENSG00000011295	ENST00000261647;ENST00000555605;ENST00000395886	D	0.83419	-1.72	5.06	4.02	0.46733	.	0.498025	0.19407	N	0.115021	T	0.74313	0.3700	L	0.28115	0.83	0.26820	N	0.968808	.	.	.	.	.	.	T	0.62210	-0.6902	8	0.14656	T	0.56	-9.3213	12.296	0.54847	0.0:0.1872:0.8128:0.0	.	.	.	.	T	94;215;94	ENSP00000261647:A94T	ENSP00000261647:A215T	A	+	1	0	TTC19	15844252	1.000000	0.71417	0.999000	0.59377	0.372000	0.29890	2.821000	0.48065	2.355000	0.79922	0.549000	0.68633	GCA		0.731	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000131725.6	NM_017775		17	105	0	0	0	1	0	17	105				
TUBB8P7	197331	broad.mit.edu	37	16	90162298	90162298	+	RNA	SNP	C	C	T	rs566020585		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:90162298C>T	ENST00000564451.1	+	0	1651				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		TGCTGACTGGCTCCCCAACAA	0.502																																						ENST00000564451.1																			0																																																			0							g.chr16:90162298C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162298C>T						TUBB8P7_ENST00000567960.1_RNA								0	1651	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.502	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	772	0	0	0	1	0	6	772				
FLT4	2324	broad.mit.edu	37	5	180051060	180051060	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180051060G>A	ENST00000261937.6	-	11	1501	c.1423C>T	c.(1423-1425)Cgg>Tgg	p.R475W	FLT4_ENST00000502649.1_Splice_Site_p.R475W|FLT4_ENST00000393347.3_Splice_Site_p.R475W|FLT4_ENST00000424276.2_5'UTR	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	475	Ig-like C2-type 5.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGCCGCCGGCTGCCAGGA	0.647																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.e11-1		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						34.0	33.0	33.0					5																	180051060		2202	4298	6500	SO:0001630	splice_region_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180051060G>A	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1422-1C>T	5.37:g.180051060G>A						FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000393347.3_Splice_Site_p.R475_splice|FLT4_ENST00000502649.1_Splice_Site_p.R475_splice	p.R475_splice	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	11	1501	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	475			Ig-like C2-type 5.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Splice_Site	SNP	ENST00000261937.6	37	c.1421_splice	CCDS4457.1	.	.	.	.	.	.	.	.	.	.	G	13.41	2.228890	0.39399	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.77489	-1.1;-1.09;-1.09	4.79	2.85	0.33270	Immunoglobulin subtype (1);Immunoglobulin-like (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);	.	.	.	.	T	0.68650	0.3024	N	0.08118	0	0.43462	D	0.995669	D;D;D;D	0.71674	0.998;0.998;0.996;0.998	P;P;P;P	0.58970	0.849;0.809;0.72;0.72	T	0.66344	-0.5947	9	0.37606	T	0.19	.	7.737	0.28821	0.084:0.0:0.7557:0.1603	.	475;285;475;475	P35916-3;E9PFB0;E9PD35;P35916	.;.;.;VGFR3_HUMAN	W	475;475;475;285	ENSP00000261937:R475W;ENSP00000377016:R475W;ENSP00000426057:R475W	ENSP00000261937:R475W	R	-	1	2	FLT4	179983666	0.775000	0.28604	0.985000	0.45067	0.017000	0.09413	0.047000	0.14056	1.163000	0.42636	-0.258000	0.10820	CGG		0.647	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4		Missense_Mutation	28	184	0	0	0	1	0	28	184				
SLC39A5	283375	broad.mit.edu	37	12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632																																						ENST00000266980.4																			1	Substitution - Missense(1)	p.R308W(1)	prostate(1)	NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(925-927)Cgg>Tgg		solute carrier family 39 (zinc transporter), member 5							155.0	155.0	155.0					12																	56629464		2203	4300	6503	SO:0001583	missense	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56629464C>T		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.925C>T	12.37:g.56629464C>T	ENSP00000266980:p.Arg309Trp					SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			6	1218	+			309					B2R808|Q8N6Y3	Missense_Mutation	SNP	ENST00000266980.4	37	c.925C>T	CCDS8912.2	.	.	.	.	.	.	.	.	.	.	C	18.91	3.722711	0.68959	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.48522	0.81;0.81	3.7	3.7	0.42460	.	.	.	.	.	T	0.63522	0.2518	M	0.80616	2.505	0.33220	D	0.554505	D;D	0.65815	0.995;0.995	P;P	0.58077	0.832;0.667	T	0.74702	-0.3576	9	0.72032	D	0.01	-20.8821	11.2733	0.49153	0.0:1.0:0.0:0.0	.	309;200	Q6ZMH5;B4DPG8	S39A5_HUMAN;.	W	309	ENSP00000405360:R309W;ENSP00000266980:R309W	ENSP00000266980:R309W	R	+	1	2	SLC39A5	54915731	0.996000	0.38824	0.961000	0.40146	0.988000	0.76386	1.198000	0.32223	2.372000	0.80975	0.655000	0.94253	CGG		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		8	1371	0	0	0	1	0	8	1371				
CHRNB2	1141	broad.mit.edu	37	1	154543680	154543680	+	Silent	SNP	C	C	T	rs201024705		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:154543680C>T	ENST00000368476.3	+	5	645	c.381C>T	c.(379-381)taC>taT	p.Y127Y		NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	cholinergic receptor, nicotinic, beta 2 (neuronal)	127					action potential (GO:0001508)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|central nervous system projection neuron axonogenesis (GO:0021952)|cognition (GO:0050890)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|lateral geniculate nucleus development (GO:0021771)|learning (GO:0007612)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|memory (GO:0007613)|negative regulation of action potential (GO:0045759)|neurological system process (GO:0050877)|optic nerve morphogenesis (GO:0021631)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|protein heterooligomerization (GO:0051291)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of circadian sleep/wake cycle, REM sleep (GO:0042320)|regulation of dendrite morphogenesis (GO:0048814)|regulation of dopamine metabolic process (GO:0042053)|regulation of dopamine secretion (GO:0014059)|regulation of synapse assembly (GO:0051963)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|sensory perception of pain (GO:0019233)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)|vestibulocochlear nerve development (GO:0021562)|visual learning (GO:0008542)|visual perception (GO:0007601)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|drug binding (GO:0008144)|ligand-gated ion channel activity (GO:0015276)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Dextromethorphan(DB00514)|Galantamine(DB00674)|Nicotine(DB00184)	ACGGCATGTACGAGGTGTCCT	0.552																																						ENST00000368476.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28						c.(379-381)taC>taT		cholinergic receptor, nicotinic, beta 2 (neuronal)	Nicotine(DB00184)						142.0	130.0	134.0					1																	154543680		2203	4300	6503	SO:0001819	synonymous_variant	1141				B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	g.chr1:154543680C>T	U62437	CCDS1070.1	1q21.3	2012-02-11	2006-02-01		ENSG00000160716	ENSG00000160716		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1962	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 2 (neuronal)"""	118507	"""cholinergic receptor, nicotinic, beta polypeptide 2 (neuronal)"""			1505988	Standard	NM_000748		Approved		uc001ffg.3	P17787	OTTHUMG00000037262	ENST00000368476.3:c.381C>T	1.37:g.154543680C>T							p.Y127Y	NM_000748.2	NP_000739.1	P17787	ACHB2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		5	645	+	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		127					Q9UEH9	Silent	SNP	ENST00000368476.3	37	c.381C>T	CCDS1070.1																																																																																				0.552	CHRNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090697.1	NM_000748		274	485	0	0	0	1	0	274	485				
GALNT16	57452	broad.mit.edu	37	14	69787575	69787575	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:69787575C>T	ENST00000337827.4	+	2	652	c.325C>T	c.(325-327)Cgc>Tgc	p.R109C	GALNT16_ENST00000553669.1_Missense_Mutation_p.R109C|GALNT16_ENST00000448469.3_Missense_Mutation_p.R109C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	109					protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCGGGACACCCGCCATTACAG	0.532																																						ENST00000337827.4																			0											c.(325-327)Cgc>Tgc		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16							58.0	54.0	56.0					14																	69787575		2203	4300	6503	SO:0001583	missense	57452							g.chr14:69787575C>T	AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.325C>T	14.37:g.69787575C>T	ENSP00000336729:p.Arg109Cys					GALNT16_ENST00000553669.1_Missense_Mutation_p.R109C|GALNT16_ENST00000448469.3_Missense_Mutation_p.R109C	p.R109C	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2					2	652	+								Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	ENST00000337827.4	37	c.325C>T	CCDS32107.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273185	0.80580	.	.	ENSG00000100626	ENST00000337827;ENST00000448469;ENST00000553669	T;T;T	0.62788	0.0;0.0;0.0	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.82365	0.5021	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.85654	0.1284	10	0.87932	D	0	.	12.7073	0.57067	0.275:0.725:0.0:0.0	.	109;109	Q8N428;Q58A55	GLTL1_HUMAN;.	C	109	ENSP00000336729:R109C;ENSP00000402970:R109C;ENSP00000451200:R109C	ENSP00000336729:R109C	R	+	1	0	GALNTL1	68857328	0.997000	0.39634	1.000000	0.80357	0.843000	0.47879	3.698000	0.54771	2.660000	0.90430	0.650000	0.86243	CGC		0.532	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412434.1	NM_001168368		5	317	0	0	0	1	0	5	317				
GRIA1	2890	broad.mit.edu	37	5	153174277	153174277	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:153174277C>T	ENST00000285900.5	+	14	2710	c.2367C>T	c.(2365-2367)agC>agT	p.S789S	GRIA1_ENST00000518142.1_Silent_p.S709S|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000340592.5_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	789					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	AGTGCGGCAGCGGGGGAGGTG	0.463																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2365-2367)agC>agT		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						50.0	52.0	52.0					5																	153174277		2203	4300	6503	SO:0001819	synonymous_variant	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153174277C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2367C>T	5.37:g.153174277C>T						GRIA1_ENST00000448073.4_Intron|GRIA1_ENST00000518783.1_Silent_p.S799S|GRIA1_ENST00000521843.2_Silent_p.S720S|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000518142.1_Silent_p.S709S	p.S789S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		14	2710	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	789					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Silent	SNP	ENST00000285900.5	37	c.2367C>T	CCDS4322.1																																																																																				0.463	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			40	179	0	0	0	1	0	40	179				
PDS5B	23047	broad.mit.edu	37	13	33258137	33258137	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:33258137A>T	ENST00000315596.10	+	11	1366	c.1180A>T	c.(1180-1182)Aga>Tga	p.R394*		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	394				R -> G (in Ref. 2; AAD22134). {ECO:0000305}.	cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)	p.R394*(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TAATTTTGTGAGAGAGAGAAC	0.274																																						ENST00000315596.10																			2	Substitution - Nonsense(2)	p.R394*(2)	large_intestine(1)|endometrium(1)	NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62						c.(1180-1182)Aga>Tga		PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)							140.0	130.0	133.0					13																	33258137		1813	4068	5881	SO:0001587	stop_gained	23047				cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding	g.chr13:33258137A>T	AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.1180A>T	13.37:g.33258137A>T	ENSP00000313851:p.Arg394*						p.R394*	NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)	11	1366	+		Lung SC(185;0.0367)	394	R -> G (in Ref. 2; AAD22134).				Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Nonsense_Mutation	SNP	ENST00000315596.10	37	c.1180A>T	CCDS41878.1	.	.	.	.	.	.	.	.	.	.	A	36	5.852697	0.97030	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	.	.	.	5.11	5.11	0.69529	.	0.045487	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-3.1156	11.2434	0.48982	0.847:0.153:0.0:0.0	.	.	.	.	X	394	.	ENSP00000313851:R394X	R	+	1	2	PDS5B	32156137	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.075000	0.50073	2.064000	0.61679	0.482000	0.46254	AGA		0.274	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044428.3	NM_015032		5	452	0	0	0	1	0	5	452				
PCDHB7	56129	broad.mit.edu	37	5	140553994	140553994	+	Silent	SNP	G	G	T	rs374392843		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140553994G>T	ENST00000231137.3	+	1	1752	c.1578G>T	c.(1576-1578)gcG>gcT	p.A526A		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {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.A526A(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCAGGCGTTCGAGTTCC	0.706													g|||	1	0.000199681	0.0	0.0	5008	,	,		16269	0.0		0.001	False		,,,				2504	0.0					ENST00000231137.3																			1	Substitution - coding silent(1)	p.A526A(1)	lung(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(1576-1578)gcG>gcT									62.0	68.0	66.0					5																	140553994		2203	4300	6503	SO:0001819	synonymous_variant	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553994G>T	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1578G>T	5.37:g.140553994G>T							p.A526A	NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1752	+			526			Cadherin 5.		A1L3Y8	Silent	SNP	ENST00000231137.3	37	c.1578G>T	CCDS4249.1																																																																																				0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		7	639	1	0	9.31168e-06	1	9.34591e-06	7	639				
TSHZ3	57616	broad.mit.edu	37	19	31769759	31769759	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:31769759C>T	ENST00000240587.4	-	2	1267	c.940G>A	c.(940-942)Gcc>Acc	p.A314T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	314					in utero embryonic development (GO:0001701)|kidney morphogenesis (GO:0060993)|kidney smooth muscle cell differentiation (GO:0072195)|lung development (GO:0030324)|metanephros development (GO:0001656)|musculoskeletal movement (GO:0050881)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of smooth muscle cell differentiation (GO:0051152)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|sensory perception of touch (GO:0050975)|transcription, DNA-templated (GO:0006351)|ureter smooth muscle cell differentiation (GO:0072193)|ureteric bud development (GO:0001657)|ureteric peristalsis (GO:0072105)	growth cone (GO:0030426)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A314T(1)|p.A131T(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ATGATTTTGGCGGCGACAGGA	0.537																																						ENST00000240587.4																			2	Substitution - Missense(2)	p.A314T(1)|p.A131T(1)	large_intestine(2)	breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123						c.(940-942)Gcc>Acc		teashirt zinc finger homeobox 3							88.0	89.0	89.0					19																	31769759		2203	4300	6503	SO:0001583	missense	57616				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:31769759C>T	AL136805	CCDS12421.2	19q13.11	2013-11-20	2007-07-16	2006-03-14	ENSG00000121297	ENSG00000121297		"""Teashirt zinc fingers"", ""Homeoboxes / ZF class"", ""Zinc fingers, C2H2-type"""	30700	protein-coding gene	gene with protein product	"""teashirt 3"""	614119	"""zinc finger protein 537"", ""teashirt family zinc finger 3"""	ZNF537			Standard	NM_020856		Approved	KIAA1474, TSH3	uc002nsy.4	Q63HK5	OTTHUMG00000150184	ENST00000240587.4:c.940G>A	19.37:g.31769759C>T	ENSP00000240587:p.Ala314Thr						p.A314T	NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN			2	1267	-	Esophageal squamous(110;0.226)		314					Q9H0G6|Q9P254	Missense_Mutation	SNP	ENST00000240587.4	37	c.940G>A	CCDS12421.2	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.449292	0.01080	.	.	ENSG00000121297	ENST00000240587	T	0.11821	2.74	5.46	3.34	0.38264	.	0.108055	0.64402	N	0.000007	T	0.07324	0.0185	N	0.16790	0.44	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.14587	-1.0467	10	0.07325	T	0.83	-21.948	11.5359	0.50636	0.0:0.8554:0.0:0.1446	.	314	Q63HK5	TSH3_HUMAN	T	314	ENSP00000240587:A314T	ENSP00000240587:A314T	A	-	1	0	TSHZ3	36461599	1.000000	0.71417	0.875000	0.34327	0.217000	0.24651	5.772000	0.68889	1.294000	0.44707	-0.150000	0.13652	GCC		0.537	TSHZ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316743.2	NM_020856		7	562	0	0	0	1	0	7	562				
SH3PXD2A	9644	broad.mit.edu	37	10	105363099	105363099	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:105363099G>A	ENST00000369774.4	-	15	2152	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	626					superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		GCATATGGCCGGAAGCCCTCA	0.622																																						ENST00000369774.4																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38						c.(1876-1878)Cgg>Tgg		SH3 and PX domains 2A							78.0	85.0	83.0					10																	105363099		2203	4300	6503	SO:0001583	missense	9644				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding	g.chr10:105363099G>A	AB007878	CCDS31278.1	10q25.1	2006-02-13	2006-02-13	2006-02-13	ENSG00000107957	ENSG00000107957			23664	protein-coding gene	gene with protein product	"""five SH3 domains"""		"""SH3 multiple domains 1"""	SH3MD1		9687503	Standard	XM_005270297		Approved	FISH, KIAA0418	uc001kxj.1	Q5TCZ1	OTTHUMG00000018997	ENST00000369774.4:c.1876C>T	10.37:g.105363099G>A	ENSP00000358789:p.Arg626Trp					SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R461W|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R493W|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R598W|SH3PXD2A_ENST00000315994.6_5'UTR	p.R626W			Q5TCZ1	SPD2A_HUMAN		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)	15	2152	-		Colorectal(252;0.0815)|Breast(234;0.131)	626					D3DR98|O43302|Q5TCZ2|Q5TDQ8	Missense_Mutation	SNP	ENST00000369774.4	37	c.1876C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.990608|2.990608	0.54041|0.54041	.|.	.|.	ENSG00000107957|ENSG00000107957	ENST00000420222|ENST00000369774;ENST00000355946;ENST00000315994;ENST00000536035;ENST00000540321;ENST00000538130	.|T;T;T;T	.|0.65916	.|-0.09;-0.18;0.02;-0.18	5.42|5.42	2.32|2.32	0.28847|0.28847	.|.	.|0.137701	.|0.64402	.|D	.|0.000007	T|T	0.72771|0.72771	0.3502|0.3502	L|L	0.54323|0.54323	1.7|1.7	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D	.|0.76494	.|0.998;0.998;0.998;0.999	.|P;P;P;D	.|0.65443	.|0.863;0.863;0.863;0.935	T|T	0.74287|0.74287	-0.3714|-0.3714	5|10	.|0.72032	.|D	.|0.01	-25.2151|-25.2151	15.2853|15.2853	0.73822|0.73822	0.0:0.0:0.3321:0.6679|0.0:0.0:0.3321:0.6679	.|.	.|626;475;471;598	.|Q5TCZ1;B7Z9L8;B7Z3B0;Q5TCZ1-3	.|SPD2A_HUMAN;.;.;.	L|W	552|626;598;433;541;493;461	.|ENSP00000358789:R626W;ENSP00000348215:R598W;ENSP00000443663:R493W;ENSP00000441514:R461W	.|ENSP00000318135:R433W	P|R	-|-	2|1	0|2	SH3PXD2A|SH3PXD2A	105353089|105353089	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.972000|0.972000	0.66771|0.66771	1.336000|1.336000	0.33850|0.33850	0.168000|0.168000	0.19655|0.19655	0.561000|0.561000	0.74099|0.74099	CCG|CGG		0.622	SH3PXD2A-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000050178.1	NM_014631		5	854	0	0	0	1	0	5	854				
OR10G9	219870	broad.mit.edu	37	11	123893818	123893818	+	Silent	SNP	C	C	T	rs145074505		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:123893818C>T	ENST00000375024.1	+	1	99	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTGGTTTACGTGCTCACTG	0.572													C|||	1	0.000199681	0.0	0.0	5008	,	,		20546	0.0		0.001	False		,,,				2504	0.0					ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(97-99)taC>taT		olfactory receptor, family 10, subfamily G, member 9		C		0,4402		0,0,2201	172.0	156.0	161.0		99	-4.4	0.0	11	dbSNP_134	161	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	OR10G9	NM_001001953.1		0,1,6499	TT,TC,CC		0.0116,0.0,0.0077		33/312	123893818	1,12999	2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123893818C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.99C>T	11.37:g.123893818C>T							p.Y33Y	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	99	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	33						Silent	SNP	ENST00000375024.1	37	c.99C>T	CCDS31703.1																																																																																				0.572	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		216	722	0	0	0	1	0	216	722				
SBNO2	22904	broad.mit.edu	37	19	1119153	1119153	+	Missense_Mutation	SNP	C	C	T	rs376023611		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1119153C>T	ENST00000361757.3	-	14	1621	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A462T	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	462					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		ATCTCCATGGCGCCAACGCCC	0.667																																						ENST00000361757.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1384-1386)Gcc>Acc		strawberry notch homolog 2 (Drosophila)		C	THR/ALA,THR/ALA	0,4382		0,0,2191	28.0	33.0	32.0		1213,1384	4.2	1.0	19		32	1,8557		0,1,4278	no	missense,missense	SBNO2	NM_001100122.1,NM_014963.2	58,58	0,1,6469	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	405/1310,462/1367	1119153	1,12939	2191	4279	6470	SO:0001583	missense	22904				macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent			g.chr19:1119153C>T	AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1384G>A	19.37:g.1119153C>T	ENSP00000354733:p.Ala462Thr					SBNO2_ENST00000438103.2_Missense_Mutation_p.A405T|SBNO2_ENST00000587024.1_Missense_Mutation_p.A462T	p.A462T	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_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)	14	1621	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	462					A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	ENST00000361757.3	37	c.1384G>A	CCDS45894.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368391	0.82463	0.0	1.17E-4	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	4.19	4.19	0.49359	.	0.000000	0.85682	D	0.000000	D	0.85414	0.5691	M	0.92169	3.28	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.99;0.996;0.993	D	0.89565	0.3809	9	0.87932	D	0	-24.553	15.6769	0.77336	0.0:1.0:0.0:0.0	.	462;462;405	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	T	462;405;486	.	ENSP00000250872:A486T	A	-	1	0	SBNO2	1070153	1.000000	0.71417	0.986000	0.45419	0.416000	0.31233	7.514000	0.81750	2.160000	0.67779	0.462000	0.41574	GCC		0.667	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458065.2	NM_014963		9	51	0	0	0	1	0	9	51				
NBPF3	84224	broad.mit.edu	37	1	21801427	21801427	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:21801427A>G	ENST00000318249.5	+	8	1325	c.975A>G	c.(973-975)aaA>aaG	p.K325K	NBPF3_ENST00000318220.6_Silent_p.K269K|NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000454000.2_Silent_p.K255K	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	325	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGGAAGAAAAAGGGCCAGTGT	0.398																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(805-807)aaA>aaG		neuroblastoma breakpoint family, member 3							195.0	217.0	209.0					1																	21801427		2203	4300	6503	SO:0001819	synonymous_variant	84224					cytoplasm		g.chr1:21801427A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.975A>G	1.37:g.21801427A>G						NBPF3_ENST00000454000.2_Silent_p.K255K|NBPF3_ENST00000342104.5_Silent_p.K325K|NBPF3_ENST00000318249.5_Silent_p.K325K	p.K269K			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	11	1855	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	325			NBPF 1.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Silent	SNP	ENST00000318249.5	37	c.807A>G	CCDS216.1																																																																																				0.398	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		5	603	0	0	0	1	0	5	603				
TSSC2	650368	broad.mit.edu	37	11	3427759	3427759	+	RNA	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:3427759C>T	ENST00000529482.1	+	0	876									tumor suppressing subtransferable candidate 2 pseudogene																		TGTCTGCACACGTCCTGCAGT	0.612																																						ENST00000529482.1																			0																																																			0							g.chr11:3427759C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427759C>T														0	876	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.612	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	314	0	0	0	1	0	5	314				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			0							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		6	55	1	0	2.7689e-08	1	2.82055e-08	6	55				
POTEH	23784	broad.mit.edu	37	22	16279226	16279226	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:16279226C>A	ENST00000343518.6	-	4	1048	c.997G>T	c.(997-999)Gca>Tca	p.A333S	POTEH-AS1_ENST00000422014.1_RNA|RNU6-816P_ENST00000390914.1_RNA	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	333										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTAAATTTGCTTTTTTCTTG	0.323																																						ENST00000343518.6																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						c.(997-999)Gca>Tca		POTE ankyrin domain family, member H																																				SO:0001583	missense	23784							g.chr22:16279226C>A	AY462874	CCDS74808.1	22q11.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000198062	ENSG00000198062		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	133	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 7"""	608913	"""actin, beta-like 1"", ""ANKRD26-like family C, member 3"""	ACTBL1, A26C3		10591208, 15276201, 21439273	Standard	NM_001136213		Approved	POTE22, CT104.7	uc010gqp.2	Q6S545	OTTHUMG00000140314	ENST00000343518.6:c.997G>T	22.37:g.16279226C>A	ENSP00000340610:p.Ala333Ser						p.A333S	NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN			4	1048	-			333					A2CEK4|A6NCI1|A9Z1W0	Missense_Mutation	SNP	ENST00000343518.6	37	c.997G>T	CCDS46658.1	.	.	.	.	.	.	.	.	.	.	.	12.84	2.059525	0.36373	.	.	ENSG00000198062	ENST00000359587;ENST00000343518	T	0.61392	0.11	1.38	0.308	0.15815	Ankyrin repeat-containing domain (4);	0.217456	0.22410	U	0.060437	T	0.70116	0.3187	M	0.82823	2.61	0.09310	N	1	D;D	0.76494	0.976;0.999	D;D	0.87578	0.91;0.998	T	0.58306	-0.7659	10	0.72032	D	0.01	.	3.5736	0.07926	0.0:0.7344:0.0:0.2656	.	333;296	Q6S545;A6NKF6	POTEH_HUMAN;.	S	296;333	ENSP00000340610:A333S	ENSP00000340610:A333S	A	-	1	0	POTEH	14659226	0.302000	0.24454	0.001000	0.08648	0.061000	0.15899	1.944000	0.40263	0.148000	0.19059	0.175000	0.17021	GCA		0.323	POTEH-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276918.4	NM_001136213		34	2459	1	0	5.3912e-06	1	5.43099e-06	34	2459				
COL22A1	169044	broad.mit.edu	37	8	139737642	139737642	+	Silent	SNP	C	C	T	rs367667199		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:139737642C>T	ENST00000303045.6	-	24	2627	c.2181G>A	c.(2179-2181)ccG>ccA	p.P727P	COL22A1_ENST00000435777.1_Silent_p.P727P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	727	Collagen-like 5.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GAGAACCTCCCGGTCCAGGGG	0.582										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(2179-2181)ccG>ccA		collagen, type XXII, alpha 1		C		1,4405	2.1+/-5.4	0,1,2202	59.0	66.0	63.0		2181	-9.9	0.6	8		63	0,8600		0,0,4300	no	coding-synonymous	COL22A1	NM_152888.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		727/1627	139737642	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139737642C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.2181G>A	8.37:g.139737642C>T		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.P727P	p.P727P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		24	2627	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		727			Collagen-like 5.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.2181G>A	CCDS6376.1																																																																																				0.582	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		170	539	0	0	0	1	0	170	539				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)Cgg>Tgg	Other conserved DNA damage response genes	tumor protein p53							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W	p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	874	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		37	255	0	0	0	1	0	37	255				
PTPRF	5792	broad.mit.edu	37	1	44069169	44069169	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44069169G>A	ENST00000359947.4	+	15	2763	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R799H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	808	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GATGGTGCCCGCAGCAAGCCC	0.632																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(2422-2424)cGc>cAc		protein tyrosine phosphatase, receptor type, F							88.0	86.0	87.0					1																	44069169		2203	4300	6503	SO:0001583	missense	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44069169G>A	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.2423G>A	1.37:g.44069169G>A	ENSP00000353030:p.Arg808His					PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_Missense_Mutation_p.R799H|PTPRF_ENST00000372414.3_Missense_Mutation_p.R808H|PTPRF_ENST00000422171.2_Missense_Mutation_p.R156H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R799H	p.R808H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			15	2763	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	808			Fibronectin type-III 5.		D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	ENST00000359947.4	37	c.2423G>A	CCDS489.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.81|19.81	3.895738|3.895738	0.72639|0.72639	.|.	.|.	ENSG00000142949|ENSG00000142949	ENST00000429895|ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407	.|T;T;T;T;T;T	.|0.54279	.|2.28;0.58;2.28;0.58;0.58;0.59	4.79|4.79	4.79|4.79	0.61399|0.61399	.|Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|0.000000	.|0.31660	.|N	.|0.007279	T|T	0.73682|0.73682	0.3618|0.3618	M|M	0.80422|0.80422	2.495|2.495	0.80722|0.80722	D|D	1|1	.|D;D;P;D;D	.|0.89917	.|1.0;1.0;0.88;1.0;1.0	.|D;D;B;D;D	.|0.97110	.|0.999;0.986;0.288;0.995;1.0	T|T	0.73007|0.73007	-0.4118|-0.4118	5|10	.|0.30854	.|T	.|0.27	.|.	18.2203|18.2203	0.89899|0.89899	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|455;156;567;799;808	.|Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586	.|.;.;.;.;PTPRF_HUMAN	T|H	456|808;799;808;799;156;62	.|ENSP00000353030:R808H;ENSP00000398822:R799H;ENSP00000361491:R808H;ENSP00000361490:R799H;ENSP00000387885:R156H;ENSP00000361484:R62H	.|ENSP00000353030:R808H	A|R	+|+	1|2	0|0	PTPRF|PTPRF	43841756|43841756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.972000|0.972000	0.66771|0.66771	7.456000|7.456000	0.80751|0.80751	2.387000|2.387000	0.81309|0.81309	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.632	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			6	449	0	0	0	1	0	6	449				
DSC1	1823	broad.mit.edu	37	18	28723623	28723623	+	Silent	SNP	A	A	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:28723623A>T	ENST00000257198.5	-	8	1332	c.1071T>A	c.(1069-1071)acT>acA	p.T357T	DSC1_ENST00000257197.3_Silent_p.T357T|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	357	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACTCACAGAAGTTTCTGTGA	0.358																																						ENST00000257197.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1069-1071)acT>acA		desmocollin 1							110.0	105.0	106.0					18																	28723623		2203	4300	6503	SO:0001819	synonymous_variant	1823				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	g.chr18:28723623A>T	AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.1071T>A	18.37:g.28723623A>T						RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.T357T	p.T357T	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(10;0.00778)		8	1332	-			357			Cadherin 3.		Q9HB01	Silent	SNP	ENST00000257198.5	37	c.1071T>A	CCDS11894.1																																																																																				0.358	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254946.1	NM_004948, NM_024421		18	167	0	0	0	1	0	18	167				
CDH15	1013	broad.mit.edu	37	16	89251637	89251637	+	Missense_Mutation	SNP	G	G	C	rs371162466		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:89251637G>C	ENST00000289746.2	+	5	624	c.559G>C	c.(559-561)Gca>Cca	p.A187P		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	187	Cadherin 2. {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)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)	caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GACGGACAACGCAGCGCTGCG	0.662																																						ENST00000289746.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(559-561)Gca>Cca		cadherin 15, type 1, M-cadherin (myotubule)							51.0	48.0	49.0					16																	89251637		2193	4293	6486	SO:0001583	missense	1013				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding	g.chr16:89251637G>C	D83542	CCDS10976.1	16q24.3	2010-01-26	2008-10-30		ENSG00000129910	ENSG00000129910		"""Cadherins / Major cadherins"""	1754	protein-coding gene	gene with protein product		114019	"""cadherin 15, M-cadherin (myotubule)"""	CDH3, CDH14		1427864	Standard	NM_004933		Approved		uc002fmt.3	P55291	OTTHUMG00000138045	ENST00000289746.2:c.559G>C	16.37:g.89251637G>C	ENSP00000289746:p.Ala187Pro						p.A187P	NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0261)	5	624	+			187			Cadherin 2.			Missense_Mutation	SNP	ENST00000289746.2	37	c.559G>C	CCDS10976.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.090995	0.76756	.	.	ENSG00000129910	ENST00000289746	T	0.54675	0.56	4.76	4.76	0.60689	Cadherin (4);Cadherin-like (1);	0.000000	0.52532	D	0.000065	T	0.80722	0.4677	H	0.95294	3.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86687	0.1920	10	0.59425	D	0.04	.	16.5411	0.84385	0.0:0.0:1.0:0.0	.	187	P55291	CAD15_HUMAN	P	187	ENSP00000289746:A187P	ENSP00000289746:A187P	A	+	1	0	CDH15	87779138	1.000000	0.71417	0.840000	0.33206	0.279000	0.26890	9.248000	0.95456	2.187000	0.69744	0.462000	0.41574	GCA		0.662	CDH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269920.1	NM_004933		16	74	0	0	0	1	0	16	74				
SOS2	6655	broad.mit.edu	37	14	50626630	50626630	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:50626630C>T	ENST00000216373.5	-	10	1645	c.1371G>A	c.(1369-1371)cgG>cgA	p.R457R	SOS2_ENST00000543680.1_Silent_p.R424R|SOS2_ENST00000555794.1_5'UTR	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	457	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					GAAAAATATGCCGTTCATGTT	0.393																																						ENST00000216373.5																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39						c.(1369-1371)cgG>cgA		son of sevenless homolog 2 (Drosophila)							186.0	176.0	179.0					14																	50626630		2203	4300	6503	SO:0001819	synonymous_variant	6655				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr14:50626630C>T	L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.1371G>A	14.37:g.50626630C>T						SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Silent_p.R424R	p.R457R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN			10	1645	-	all_epithelial(31;0.000822)|Breast(41;0.0065)		457			PH.		B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	ENST00000216373.5	37	c.1371G>A	CCDS9697.1																																																																																				0.393	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276878.2			7	948	0	0	0	1	0	7	948				
TENM3	55714	broad.mit.edu	37	4	183594344	183594344	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:183594344G>A	ENST00000511685.1	+	7	1421	c.1298G>A	c.(1297-1299)cGg>cAg	p.R433Q	TENM3_ENST00000406950.2_Missense_Mutation_p.R433Q			Q9P273	TEN3_HUMAN	teneurin transmembrane protein 3	433					camera-type eye morphogenesis (GO:0048593)|homophilic cell adhesion (GO:0007156)|positive regulation of neuron projection development (GO:0010976)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GTATATGGCCGGAAAGGCTTA	0.388																																						ENST00000511685.1																			0											c.(1297-1299)cGg>cAg		teneurin transmembrane protein 3							62.0	58.0	59.0					4																	183594344		1817	4081	5898	SO:0001583	missense	55714							g.chr4:183594344G>A	AF195420	CCDS47165.1	4q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000218336	ENSG00000218336			29944	protein-coding gene	gene with protein product		610083	"""odz, odd Oz/ten-m homolog 3 (Drosophila)"""	ODZ3		10331952, 10625539	Standard	NM_001080477		Approved	Ten-M3, KIAA1455	uc003ivd.1	Q9P273	OTTHUMG00000160682	ENST00000511685.1:c.1298G>A	4.37:g.183594344G>A	ENSP00000424226:p.Arg433Gln					TENM3_ENST00000406950.2_Missense_Mutation_p.R433Q	p.R433Q							7	1421	+								Q5XUL9|Q96SY2|Q9NV77|Q9NVW1|Q9NZJ2	Missense_Mutation	SNP	ENST00000511685.1	37	c.1298G>A	CCDS47165.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952737	0.92660	.	.	ENSG00000218336	ENST00000511685;ENST00000406950	T;T	0.34472	1.36;1.36	4.8	4.8	0.61643	.	.	.	.	.	T	0.63628	0.2527	M	0.82517	2.595	0.58432	D	0.999997	D	0.69078	0.997	D	0.67725	0.953	T	0.69932	-0.5011	9	0.87932	D	0	.	18.4115	0.90552	0.0:0.0:1.0:0.0	.	433	Q9P273	TEN3_HUMAN	Q	433	ENSP00000424226:R433Q;ENSP00000385276:R433Q	ENSP00000385276:R433Q	R	+	2	0	ODZ3	183831338	1.000000	0.71417	1.000000	0.80357	0.730000	0.41778	9.601000	0.98297	2.634000	0.89283	0.655000	0.94253	CGG		0.388	TENM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361734.1			20	124	0	0	0	1	0	20	124				
HPX	3263	broad.mit.edu	37	11	6461433	6461433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:6461433C>T	ENST00000265983.3	-	4	398	c.298G>A	c.(298-300)Gca>Aca	p.A100T	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	100					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGACGGAATGCAGCATCCACA	0.517																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(298-300)Gca>Aca		hemopexin							126.0	113.0	117.0					11																	6461433		2201	4296	6497	SO:0001583	missense	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6461433C>T	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.298G>A	11.37:g.6461433C>T	ENSP00000265983:p.Ala100Thr					HPX_ENST00000525057.1_5'UTR	p.A100T	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	4	398	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	100			Hemopexin-like 2.		B2R957	Missense_Mutation	SNP	ENST00000265983.3	37	c.298G>A	CCDS7763.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412896	0.83340	.	.	ENSG00000110169	ENST00000265983;ENST00000537154	T	0.06528	3.29	4.92	4.92	0.64577	Hemopexin/matrixin, conserved site (1);Hemopexin/matrixin (2);	0.000000	0.85682	D	0.000000	T	0.33904	0.0879	M	0.92122	3.275	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.40496	-0.9560	10	0.87932	D	0	-23.7514	15.653	0.77112	0.0:1.0:0.0:0.0	.	100;100	B7Z8Q4;P02790	.;HEMO_HUMAN	T	100	ENSP00000265983:A100T	ENSP00000265983:A100T	A	-	1	0	HPX	6418009	1.000000	0.71417	1.000000	0.80357	0.853000	0.48598	3.482000	0.53186	2.554000	0.86153	0.555000	0.69702	GCA		0.517	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		6	388	0	0	0	1	0	6	388				
RYR3	6263	broad.mit.edu	37	15	33822869	33822869	+	Splice_Site	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:33822869T>C	ENST00000389232.4	+	4	424		c.e4+2		RYR3_ENST00000415757.3_Splice_Site	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3						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)			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)		AGCGGAATGGTAAGCAGCTCT	0.498																																						ENST00000389232.4																			0				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						c.e4+2		ryanodine receptor 3							63.0	60.0	61.0					15																	33822869		1954	4152	6106	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33822869T>C		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.354+2T>C	15.37:g.33822869T>C						RYR3_ENST00000415757.3_Splice_Site		NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	4	424	+		all_lung(180;7.18e-09)						O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37		CCDS45210.1	.	.	.	.	.	.	.	.	.	.	T	26.1	4.703043	0.88924	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.76	5.76	0.90799	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0668	0.72002	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	RYR3	31610161	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.637000	0.83313	2.191000	0.70037	0.533000	0.62120	.		0.498	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Intron	5	128	0	0	0	1	0	5	128				
SCN2A	6326	broad.mit.edu	37	2	166245632	166245632	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:166245632C>T	ENST00000375437.2	+	27	5606	c.5316C>T	c.(5314-5316)atC>atT	p.I1772I	SCN2A_ENST00000375427.2_Silent_p.I1772I|SCN2A_ENST00000357398.3_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1772					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACATGTACATCGCGGTCATCC	0.443																																						ENST00000375437.2																			0				NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118						c.(5314-5316)atC>atT		sodium channel, voltage-gated, type II, alpha subunit	Lamotrigine(DB00555)						101.0	102.0	101.0					2																	166245632		2202	4281	6483	SO:0001819	synonymous_variant	6326				myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166245632C>T	AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.5316C>T	2.37:g.166245632C>T						SCN2A_ENST00000375427.2_Silent_p.I1772I|SCN2A_ENST00000283256.6_Silent_p.I1772I|SCN2A_ENST00000357398.3_Silent_p.I1772I	p.I1772I	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN			27	5606	+			1772					A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Silent	SNP	ENST00000375437.2	37	c.5316C>T	CCDS33314.1																																																																																				0.443	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000102659.2	NM_021007		113	441	0	0	0	1	0	113	441				
EPHA8	2046	broad.mit.edu	37	1	22903359	22903359	+	Missense_Mutation	SNP	G	G	A	rs201689882	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:22903359G>A	ENST00000166244.3	+	3	881	c.809G>A	c.(808-810)cGg>cAg	p.R270Q	EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q|EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	270	Cys-rich.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|ephrin receptor signaling pathway (GO:0048013)|neuron projection development (GO:0031175)|neuron remodeling (GO:0016322)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion (GO:0030155)|regulation of cell adhesion mediated by integrin (GO:0033628)|substrate-dependent cell migration (GO:0006929)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGGAGCGGCGGGATGCCTGT	0.677													G|||	2	0.000399361	0.0008	0.0	5008	,	,		13700	0.0		0.001	False		,,,				2504	0.0					ENST00000166244.3																			0				breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61						c.(808-810)cGg>cAg		EPH receptor A8							23.0	24.0	24.0					1																	22903359		2199	4296	6495	SO:0001583	missense	2046					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr1:22903359G>A	BC038796	CCDS225.1, CCDS30626.1	1p36.12	2013-02-11	2004-10-28		ENSG00000070886	ENSG00000070886	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3391	protein-coding gene	gene with protein product		176945	"""EphA8"""	EEK		1648701	Standard	NM_001006943		Approved	Hek3	uc001bfx.1	P29322	OTTHUMG00000002892	ENST00000166244.3:c.809G>A	1.37:g.22903359G>A	ENSP00000166244:p.Arg270Gln					EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q	p.R270Q	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	3	881	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	270			Cys-rich.		Q6IN80|Q8IUX6|Q9NUA9|Q9P269	Missense_Mutation	SNP	ENST00000166244.3	37	c.809G>A	CCDS225.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	11.89	1.773458	0.31411	.	.	ENSG00000070886	ENST00000166244;ENST00000374644;ENST00000538803	T;D;D	0.97256	1.61;-4.31;-4.31	4.09	0.842	0.18927	.	0.145914	0.44097	N	0.000490	D	0.92120	0.7502	L	0.41236	1.265	0.37767	D	0.926539	B;B	0.22851	0.003;0.076	B;B	0.15870	0.004;0.014	D	0.85467	0.1170	10	0.45353	T	0.12	.	3.7537	0.08576	0.3071:0.0:0.5103:0.1826	.	270;270	P29322;P29322-2	EPHA8_HUMAN;.	Q	270	ENSP00000166244:R270Q;ENSP00000363775:R270Q;ENSP00000440274:R270Q	ENSP00000166244:R270Q	R	+	2	0	EPHA8	22775946	0.735000	0.28153	0.998000	0.56505	0.990000	0.78478	1.043000	0.30316	0.358000	0.24211	0.442000	0.29010	CGG		0.677	EPHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008085.1	NM_020526		8	137	0	0	0	1	0	8	137				
PIAS4	51588	broad.mit.edu	37	19	4033577	4033577	+	Splice_Site	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:4033577G>A	ENST00000262971.2	+	9	1256	c.1141G>A	c.(1141-1143)Ggg>Agg	p.G381R		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	381					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of keratinocyte apoptotic process (GO:1902174)|positive regulation of protein sumoylation (GO:0033235)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	DNA binding (GO:0003677)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G381R(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATCGACGGGTGAGCCCG	0.672																																						ENST00000262971.2																			1	Substitution - Missense(1)	p.G381R(1)	skin(1)	central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17						c.e9+1		protein inhibitor of activated STAT, 4							19.0	18.0	18.0					19																	4033577		2199	4296	6495	SO:0001630	splice_region_variant	51588				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	g.chr19:4033577G>A	AF077952	CCDS12118.1	19p13.3	2011-10-11						"""Zinc fingers, MIZ-type"""	17002	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 6"""	605989				9724754	Standard	NM_015897		Approved	Piasg, PIASY, FLJ12419, ZMIZ6	uc002lzg.3	Q8N2W9		ENST00000262971.2:c.1142+1G>A	19.37:g.4033577G>A							p.G381_splice	NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1256	+			381					O75926|Q96G19|Q9UN16	Splice_Site	SNP	ENST00000262971.2	37	c.1142_splice	CCDS12118.1	.	.	.	.	.	.	.	.	.	.	G	18.95	3.732488	0.69189	.	.	ENSG00000105229	ENST00000262971	T	0.15487	2.42	3.95	3.95	0.45737	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, MIZ-type (1);	0.000000	0.85682	U	0.000000	T	0.44871	0.1314	M	0.83774	2.66	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.54721	-0.8251	10	0.87932	D	0	-26.8132	14.9977	0.71446	0.0:0.0:1.0:0.0	.	381	Q8N2W9	PIAS4_HUMAN	R	381	ENSP00000262971:G381R	ENSP00000262971:G381R	G	+	1	0	PIAS4	3984577	1.000000	0.71417	0.801000	0.32222	0.314000	0.28054	9.755000	0.98912	1.762000	0.52044	0.491000	0.48974	GGG		0.672	PIAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457496.1	NM_015897	Missense_Mutation	10	63	0	0	0	1	0	10	63				
AHNAK	79026	broad.mit.edu	37	11	62297984	62297984	+	Missense_Mutation	SNP	G	G	A	rs569137878		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:62297984G>A	ENST00000378024.4	-	5	4179	c.3905C>T	c.(3904-3906)cCg>cTg	p.P1302L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1302					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTCCTTCCGGGCCCTCAAG	0.552																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(3904-3906)cCg>cTg		AHNAK nucleoprotein							134.0	145.0	141.0					11																	62297984		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62297984G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.3905C>T	11.37:g.62297984G>A	ENSP00000367263:p.Pro1302Leu					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.P1302L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	4179	-		Melanoma(852;0.155)	1302					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.3905C>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	g	13.14	2.148809	0.37923	.	.	ENSG00000124942	ENST00000378024	T	0.03242	4.0	4.66	4.66	0.58398	.	0.000000	0.31612	U	0.007360	T	0.09379	0.0231	M	0.87827	2.91	0.58432	D	0.999999	P	0.50272	0.933	B	0.39152	0.292	T	0.22173	-1.0224	10	0.45353	T	0.12	.	17.5636	0.87913	0.0:0.0:1.0:0.0	.	1302	Q09666	AHNK_HUMAN	L	1302	ENSP00000367263:P1302L	ENSP00000367263:P1302L	P	-	2	0	AHNAK	62054560	0.997000	0.39634	0.103000	0.21229	0.003000	0.03518	2.440000	0.44855	2.309000	0.77851	0.645000	0.84053	CCG		0.552	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		213	905	0	0	0	1	0	213	905				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		13	325	1	0	1.2476e-16	1	1.31504e-16	13	325				
FZD3	7976	broad.mit.edu	37	8	28385210	28385210	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:28385210G>T	ENST00000240093.3	+	5	1411	c.933G>T	c.(931-933)tgG>tgT	p.W311C	FZD3_ENST00000537916.1_Missense_Mutation_p.W311C|RNA5SP259_ENST00000365541.1_RNA	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN	frizzled class receptor 3	311					canonical Wnt signaling pathway (GO:0060070)|cell proliferation in midbrain (GO:0033278)|commissural neuron axon guidance (GO:0071679)|establishment of planar polarity (GO:0001736)|facial nucleus development (GO:0021754)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hair follicle development (GO:0001942)|inner ear morphogenesis (GO:0042472)|neural tube closure (GO:0001843)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|post-anal tail morphogenesis (GO:0036342)|vasculature development (GO:0001944)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|neuron projection membrane (GO:0032589)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		CCATCACATGGTTTTTAGCAG	0.433																																						ENST00000240093.3																			0				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41						c.(931-933)tgG>tgT		frizzled family receptor 3							118.0	113.0	115.0					8																	28385210		2203	4300	6503	SO:0001583	missense	7976				canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding	g.chr8:28385210G>T	AJ272427	CCDS6069.1	8p21	2014-06-27	2014-01-29		ENSG00000104290	ENSG00000104290		"""GPCR / Class F : Frizzled receptors"""	4041	protein-coding gene	gene with protein product		606143	"""frizzled (Drosophila) homolog 3"", ""frizzled homolog 3 (Drosophila)"", ""frizzled 3, seven transmembrane spanning receptor"", ""frizzled family receptor 3"""			10777673, 10873558	Standard	NM_145866		Approved		uc010lvb.3	Q9NPG1	OTTHUMG00000102145	ENST00000240093.3:c.933G>T	8.37:g.28385210G>T	ENSP00000240093:p.Trp311Cys					FZD3_ENST00000537916.1_Missense_Mutation_p.W311C	p.W311C	NM_017412.3	NP_059108.1	Q9NPG1	FZD3_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)	5	1411	+		Ovarian(32;2.06e-05)	311					A8K615	Missense_Mutation	SNP	ENST00000240093.3	37	c.933G>T	CCDS6069.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476133	0.63737	.	.	ENSG00000104290	ENST00000537916;ENST00000240093	D;D	0.91464	-2.85;-2.85	5.32	5.32	0.75619	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.96765	0.8944	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97815	1.0253	10	0.87932	D	0	.	17.5384	0.87840	0.0:0.0:1.0:0.0	.	311	Q9NPG1	FZD3_HUMAN	C	311	ENSP00000437489:W311C;ENSP00000240093:W311C	ENSP00000240093:W311C	W	+	3	0	FZD3	28441129	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.482000	0.83794	0.563000	0.77884	TGG		0.433	FZD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219986.2	NM_145866		53	379	1	0	9.59449e-18	1	1.01523e-17	53	379				
LOC101243545	101243545	broad.mit.edu	37	3	161146937	161146937	+	lincRNA	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:161146937G>A	ENST00000473595.1	+	0	1231				RP11-3P17.5_ENST00000602890.1_lincRNA	NR_102265.1																						AATTTTGTTGGCAACATCCAA	0.378																																						ENST00000473595.1																			0																				71.0	81.0	77.0					3																	161146937		1442	2583	4025			0							g.chr3:161146937G>A																													3.37:g.161146937G>A						RP11-3P17.5_ENST00000602890.1_lincRNA		NR_102265.1						0	1231	+									RNA	SNP	ENST00000473595.1	37																																																																																						0.378	RP11-3P17.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000353185.1			6	410	0	0	0	1	0	6	410				
DSCAM	1826	broad.mit.edu	37	21	41648061	41648061	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:41648061G>A	ENST00000400454.1	-	11	2796	c.2319C>T	c.(2317-2319)ggC>ggT	p.G773G		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	773	Ig-like C2-type 8.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGACGTCTGCGCCCACATCGT	0.483																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(2317-2319)ggC>ggT		Down syndrome cell adhesion molecule							90.0	96.0	94.0					21																	41648061		2076	4253	6329	SO:0001819	synonymous_variant	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41648061G>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.2319C>T	21.37:g.41648061G>A							p.G773G	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			11	2796	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	773			Ig-like C2-type 8.		O60468	Silent	SNP	ENST00000400454.1	37	c.2319C>T	CCDS42929.1																																																																																				0.483	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		61	282	0	0	0	1	0	61	282				
NOL4	8715	broad.mit.edu	37	18	31685089	31685089	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000589544.1_Silent_p.A150A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393																																						ENST00000261592.5																			0				NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(448-450)gcG>gcA		nucleolar protein 4							175.0	163.0	167.0					18																	31685089		2203	4299	6502	SO:0001819	synonymous_variant	8715					nucleolus	RNA binding	g.chr18:31685089C>T	AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.450G>A	18.37:g.31685089C>T						NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_Silent_p.A36A	p.A150A	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN			3	747	-			150					B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Silent	SNP	ENST00000261592.5	37	c.450G>A	CCDS11907.2																																																																																				0.393	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255386.1	NM_003787		19	313	0	0	0	1	0	19	313				
BMS1P20	96610	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G	rs187344612		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1				BMS1 pseudogene 20																		GTCTTCATGCAAACTTGGTAT	0.398																																						ENST00000426066.1																			0																																																			0							g.chr22:22664606A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664606A>G								NR_027293.1						0	787	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.398	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	101	0	0	0	1	0	4	101				
ZNF544	27300	broad.mit.edu	37	19	58773700	58773700	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58773700C>T	ENST00000596652.1	+	6	1962	c.1728C>T	c.(1726-1728)taC>taT	p.Y576Y	ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600220.1_Silent_p.Y548Y|ZNF544_ENST00000599953.1_Silent_p.Y434Y|ZNF544_ENST00000269829.4_Silent_p.Y576Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000415203.2_Silent_p.Y548Y|ZNF544_ENST00000596825.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000600044.1_Silent_p.Y548Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000595981.1_Intron			Q6NX49	ZN544_HUMAN	zinc finger protein 544	576					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		AGAAACCGTACGATTGCACTC	0.423																																						ENST00000269829.4																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18						c.(1726-1728)taC>taT		zinc finger protein 544							87.0	85.0	86.0					19																	58773700		2203	4300	6503	SO:0001819	synonymous_variant	27300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58773700C>T	AF020591	CCDS12973.1	19q13.43	2013-01-08				ENSG00000198131		"""Zinc fingers, C2H2-type"", ""-"""	16759	protein-coding gene	gene with protein product	"""zinc finger protein AF020591"""						Standard	NM_014480		Approved	AF020591	uc010euo.3	Q6NX49		ENST00000596652.1:c.1728C>T	19.37:g.58773700C>T						CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000599953.1_Silent_p.Y434Y|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596652.1_Silent_p.Y576Y|ZNF544_ENST00000596825.1_3'UTR|ZNF544_ENST00000595981.1_Intron|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Silent_p.Y548Y|ZNF544_ENST00000600220.1_Silent_p.Y548Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000600044.1_Silent_p.Y548Y	p.Y576Y	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)	7	2202	+		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)	576					A8K6J1|Q9UEX4	Silent	SNP	ENST00000596652.1	37	c.1728C>T	CCDS12973.1																																																																																				0.423	ZNF544-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466754.1	NM_014480		5	586	0	0	0	1	0	5	586				
GTF3C3	9330	broad.mit.edu	37	2	197657782	197657782	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197657782C>T	ENST00000263956.3	-	3	398	c.309G>A	c.(307-309)gaG>gaA	p.E103E	GTF3C3_ENST00000409364.3_Silent_p.E103E|GTF3C3_ENST00000470386.1_5'Flank	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	103	Glu-rich.				5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)	p.E103E(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						cctcctcctcctcttcttcct	0.468																																						ENST00000263956.3																			1	Substitution - coding silent(1)	p.E103E(1)	endometrium(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						c.(307-309)gaG>gaA		general transcription factor IIIC, polypeptide 3, 102kDa							65.0	63.0	64.0					2																	197657782		2203	4300	6503	SO:0001819	synonymous_variant	9330					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr2:197657782C>T	AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.309G>A	2.37:g.197657782C>T						GTF3C3_ENST00000409364.3_Silent_p.E103E	p.E103E	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN			3	398	-			103			Glu-rich.		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Silent	SNP	ENST00000263956.3	37	c.309G>A	CCDS2316.1																																																																																				0.468	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256104.1			4	217	0	0	0	1	0	4	217				
SPHKAP	80309	broad.mit.edu	37	2	228996774	228996774	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:228996774G>A	ENST00000392056.3	-	2	106	c.60C>T	c.(58-60)gaC>gaT	p.D20D	SPHKAP_ENST00000344657.5_Silent_p.D20D	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	20						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			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)		GTTCCAAAACGTCATACATCC	0.463																																						ENST00000392056.3																			0				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						c.(58-60)gaC>gaT		SPHK1 interactor, AKAP domain containing							90.0	92.0	91.0					2																	228996774		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228996774G>A		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.60C>T	2.37:g.228996774G>A						SPHKAP_ENST00000344657.5_Silent_p.D20D	p.D20D	NM_001142644.1	NP_001136116.1	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)	2	106	-		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)	20					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.60C>T	CCDS46537.1																																																																																				0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		55	364	0	0	0	1	0	55	364				
ZNF83	55769	broad.mit.edu	37	19	53116885	53116885	+	Silent	SNP	A	A	G	rs7247257	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:53116885A>G	ENST00000597597.1	-	2	3186	c.933T>C	c.(931-933)caT>caC	p.H311H	ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H			P51522	ZNF83_HUMAN	zinc finger protein 83	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTATGAATTCTCC	0.418													A|||	38	0.00758786	0.0234	0.0043	5008	,	,		21479	0.002		0.001	False		,,,				2504	0.001					ENST00000597597.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(931-933)caT>caC		zinc finger protein 83							108.0	113.0	111.0					19																	53116885		2201	4300	6501	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116885A>G	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.933T>C	19.37:g.53116885A>G						ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.H283H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000536937.1_Silent_p.H311H|ZNF83_ENST00000541777.2_Silent_p.H311H|ZNF83_ENST00000301096.3_Silent_p.H311H|ZNF83_ENST00000545872.1_Silent_p.H311H|ZNF83_ENST00000544146.1_Silent_p.H311H	p.H311H			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3186	-			311					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.933T>C	CCDS12854.1																																																																																				0.418	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		7	667	0	0	0	1	0	7	667				
PDZRN3	23024	broad.mit.edu	37	3	73433515	73433515	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73433515G>A	ENST00000263666.4	-	10	2316	c.2202C>T	c.(2200-2202)gaC>gaT	p.D734D	PDZRN3_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000466348.1_5'Flank|PDZRN3_ENST00000462146.2_Silent_p.D391D|PDZRN3_ENST00000479530.1_Silent_p.D451D|PDZRN3_ENST00000466780.1_Silent_p.D391D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	734					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GTCTGCGCACGTCGATGCTGG	0.612																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(2200-2202)gaC>gaT		PDZ domain containing ring finger 3							52.0	46.0	48.0					3																	73433515		2203	4300	6503	SO:0001819	synonymous_variant	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73433515G>A	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2202C>T	3.37:g.73433515G>A						PDZRN3_ENST00000462146.2_Silent_p.D391D|PDZRN3_ENST00000466780.1_Silent_p.D391D|PDZRN3_ENST00000535920.1_Silent_p.D456D|PDZRN3_ENST00000479530.1_Silent_p.D451D	p.D734D	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	10	2316	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	734					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	ENST00000263666.4	37	c.2202C>T	CCDS33789.1																																																																																				0.612	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		49	202	0	0	0	1	0	49	202				
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1																			7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys					KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		10	632	1	0	9.70103e-10	1	9.95632e-10	10	632				
GIT1	28964	broad.mit.edu	37	17	27908966	27908966	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:27908966C>T	ENST00000225394.3	-	5	850	c.602G>A	c.(601-603)cGc>cAc	p.R201H	GIT1_ENST00000394869.3_Missense_Mutation_p.R201H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R201H|GIT1_ENST00000581348.1_Missense_Mutation_p.R201H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	201					regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		AATGGGTGTGCGGCCATTAAC	0.627																																					Colon(81;41 1719 20078 35068)	ENST00000225394.3																			0				large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(601-603)cGc>cAc		G protein-coupled receptor kinase interacting ArfGAP 1							67.0	55.0	59.0					17																	27908966		2203	4300	6503	SO:0001583	missense	28964				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr17:27908966C>T	AF124490	CCDS11250.1, CCDS42290.1	17p11.2	2013-01-10	2008-09-05		ENSG00000108262	ENSG00000108262		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4272	protein-coding gene	gene with protein product		608434	"""G protein-coupled receptor kinase interactor 1"""			9826657, 10896954	Standard	NM_014030		Approved		uc002heg.2	Q9Y2X7	OTTHUMG00000132730	ENST00000225394.3:c.602G>A	17.37:g.27908966C>T	ENSP00000225394:p.Arg201His					GIT1_ENST00000394869.3_Missense_Mutation_p.R201H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000579937.1_Missense_Mutation_p.R201H|GIT1_ENST00000581348.1_Missense_Mutation_p.R201H	p.R201H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN		READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)	5	850	-			201					B4DGU9|B4DSV3|Q86SS0|Q9BRJ4	Missense_Mutation	SNP	ENST00000225394.3	37	c.602G>A	CCDS11250.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063141	0.76187	.	.	ENSG00000108262	ENST00000225394;ENST00000394869	T;T	0.66460	-0.21;-0.21	5.11	5.11	0.69529	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	L	0.45470	1.425	0.51012	D	0.999901	P;P;P;P	0.39250	0.665;0.482;0.538;0.538	B;B;B;B	0.37650	0.255;0.094;0.153;0.108	T	0.67381	-0.5685	10	0.56958	D	0.05	.	18.7075	0.91644	0.0:1.0:0.0:0.0	.	205;201;201;201	Q59FC3;Q9Y2X7-3;B4DGU9;Q9Y2X7	.;.;.;GIT1_HUMAN	H	201	ENSP00000225394:R201H;ENSP00000378338:R201H	ENSP00000225394:R201H	R	-	2	0	GIT1	24933092	0.094000	0.21725	1.000000	0.80357	0.999000	0.98932	0.947000	0.29082	2.826000	0.97356	0.655000	0.94253	CGC		0.627	GIT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256073.1	NM_014030		5	325	0	0	0	1	0	5	325				
PTPRD	5789	broad.mit.edu	37	9	8518207	8518207	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:8518207G>A	ENST00000381196.4	-	18	1727	c.1184C>T	c.(1183-1185)gCt>gTt	p.A395V	PTPRD_ENST00000397606.3_Missense_Mutation_p.A385V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A395V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A395V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A392V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A392V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A382V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A382V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A395V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A395V|PTPRD_ENST00000397617.3_Missense_Mutation_p.A385V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	395	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTATTGACAGCAACAACCCT	0.527										TSP Lung(15;0.13)																												ENST00000381196.4																			0				NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168						c.(1183-1185)gCt>gTt		protein tyrosine phosphatase, receptor type, D							142.0	141.0	141.0					9																	8518207		2203	4300	6503	SO:0001583	missense	5789				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr9:8518207G>A	X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.1184C>T	9.37:g.8518207G>A	ENSP00000370593:p.Ala395Val	TSP Lung(15;0.13)				PTPRD_ENST00000397617.3_Missense_Mutation_p.A385V|PTPRD_ENST00000540109.1_Missense_Mutation_p.A395V|PTPRD_ENST00000360074.4_Missense_Mutation_p.A382V|PTPRD_ENST00000537002.1_Missense_Mutation_p.A392V|PTPRD_ENST00000358503.5_Missense_Mutation_p.A382V|PTPRD_ENST00000486161.1_Missense_Mutation_p.A395V|PTPRD_ENST00000356435.5_Missense_Mutation_p.A395V|PTPRD_ENST00000355233.5_Missense_Mutation_p.A395V|PTPRD_ENST00000397606.3_Missense_Mutation_p.A385V|PTPRD_ENST00000397611.3_Missense_Mutation_p.A392V	p.A395V	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)	18	1727	-		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)	395			Fibronectin type-III 1.		B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	c.1184C>T	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.814087	0.70912	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34;-0.34	5.16	5.16	0.70880	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.88104	0.6347	H	0.96239	3.79	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.997;0.997;0.997;0.996;0.994;0.969;0.999;0.946	D	0.92021	0.5626	9	.	.	.	.	18.6464	0.91411	0.0:0.0:1.0:0.0	.	385;389;395;395;392;392;382;395;395	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	V	395;395;382;382;395;385;392;392;395;395;395;385	ENSP00000370593:A395V;ENSP00000348812:A395V;ENSP00000353187:A382V;ENSP00000351293:A382V;ENSP00000347373:A395V;ENSP00000380741:A385V;ENSP00000380735:A392V;ENSP00000440515:A392V;ENSP00000438164:A395V;ENSP00000417093:A395V;ENSP00000380731:A385V	.	A	-	2	0	PTPRD	8508207	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	9.807000	0.99171	2.392000	0.81423	0.460000	0.39030	GCT		0.527	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3			6	776	0	0	0	1	0	6	776				
MYH9	4627	broad.mit.edu	37	22	36712651	36712651	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:36712651G>A	ENST00000216181.5	-	12	1521	c.1291C>T	c.(1291-1293)Ctg>Ttg	p.L431L	RN7SL349P_ENST00000582364.1_RNA	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	431	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TTGATGCGCAGCACCAGCCAG	0.607			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													ENST00000216181.5				Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""	L	ALK		ALCL		0				NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						c.(1291-1293)Ctg>Ttg		myosin, heavy chain 9, non-muscle							74.0	71.0	72.0					22																	36712651		2203	4300	6503	SO:0001819	synonymous_variant	4627	Hereditary Macrothrombocytopenia, MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36712651G>A		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1291C>T	22.37:g.36712651G>A							p.L431L	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN			12	1521	-			431			Myosin head-like.		A8K6E4|O60805|Q60FE2|Q86T83	Silent	SNP	ENST00000216181.5	37	c.1291C>T	CCDS13927.1																																																																																				0.607	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		5	479	0	0	0	1	0	5	479				
KIF4B	285643	broad.mit.edu	37	5	154393886	154393886	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:154393886G>A	ENST00000435029.4	+	1	627	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	156	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)	p.R156L(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGCCCATCTCGTGAGAAAGCT	0.358																																						ENST00000435029.4																			2	Substitution - Missense(2)	p.R156L(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(466-468)cGt>cAt		kinesin family member 4B							157.0	160.0	159.0					5																	154393886		2203	4300	6503	SO:0001583	missense	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154393886G>A	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.467G>A	5.37:g.154393886G>A	ENSP00000387875:p.Arg156His						p.R156H	NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	627	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	156			Kinesin-motor.			Missense_Mutation	SNP	ENST00000435029.4	37	c.467G>A	CCDS47324.1	.	.	.	.	.	.	.	.	.	.	g	9.001	0.980005	0.18812	.	.	ENSG00000226650	ENST00000435029	T	0.72835	-0.69	1.73	0.834	0.18880	Kinesin, motor domain (4);	.	.	.	.	T	0.57169	0.2035	L	0.39514	1.22	0.36431	D	0.864927	B	0.14012	0.009	B	0.18561	0.022	T	0.55256	-0.8169	9	0.54805	T	0.06	.	6.1483	0.20298	0.1824:0.0:0.8176:0.0	.	156	Q2VIQ3	KIF4B_HUMAN	H	156	ENSP00000387875:R156H	ENSP00000387875:R156H	R	+	2	0	KIF4B	154374079	0.001000	0.12720	0.940000	0.37924	0.851000	0.48451	-1.547000	0.02186	0.307000	0.22880	0.655000	0.94253	CGT		0.358	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1			135	508	0	0	0	1	0	135	508				
CACNA1D	776	broad.mit.edu	37	3	53757658	53757658	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:53757658C>T	ENST00000350061.5	+	13	2375	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R642C|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R622C	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	622					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCGGTGTGTGCGCCTCTTAAG	0.512																																						ENST00000288139.3																			0				breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90						c.(1924-1926)Cgc>Tgc		calcium channel, voltage-dependent, L type, alpha 1D subunit	Verapamil(DB00661)						226.0	231.0	229.0					3																	53757658		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53757658C>T	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.1864C>T	3.37:g.53757658C>T	ENSP00000288133:p.Arg622Cys					CACNA1D_ENST00000422281.2_Missense_Mutation_p.R622C|CACNA1D_ENST00000350061.5_Missense_Mutation_p.R622C	p.R642C	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	14	2042	+			622					B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.1924C>T	CCDS46848.1	.	.	.	.	.	.	.	.	.	.	C	26.9	4.786113	0.90282	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478	D;D;D;D	0.98835	-5.17;-5.17;-5.17;-5.17	6.07	6.07	0.98685	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99603	0.9856	H	0.98901	4.365	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;1.0;1.0;0.99	D	0.97727	1.0200	10	0.87932	D	0	.	20.6439	0.99570	0.0:1.0:0.0:0.0	.	622;315;622;642	B0FYA3;Q59GD8;Q01668;Q01668-2	.;.;CAC1D_HUMAN;.	C	622;642;622;315	ENSP00000288133:R622C;ENSP00000288139:R642C;ENSP00000409174:R622C;ENSP00000418014:R315C	ENSP00000288139:R642C	R	+	1	0	CACNA1D	53732698	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.884000	0.98904	0.655000	0.94253	CGC		0.512	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		6	963	0	0	0	1	0	6	963				
OR5H15	403274	broad.mit.edu	37	3	97887879	97887879	+	Silent	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:97887879T>C	ENST00000356526.2	+	1	336	c.336T>C	c.(334-336)tgT>tgC	p.C112C		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C112C(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CCACAGAATGTTTTCTCTTGG	0.378																																						ENST00000356526.2																			1	Substitution - coding silent(1)	p.C112C(1)	lung(1)	NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						c.(334-336)tgT>tgC		olfactory receptor, family 5, subfamily H, member 15							119.0	117.0	117.0					3																	97887879		2203	4298	6501	SO:0001819	synonymous_variant	403274				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97887879T>C		CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.336T>C	3.37:g.97887879T>C							p.C112C	NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN			1	336	+			112						Silent	SNP	ENST00000356526.2	37	c.336T>C	CCDS33799.1																																																																																				0.378	OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1			5	772	0	0	0	1	0	5	772				
TRIM58	25893	broad.mit.edu	37	1	248028136	248028136	+	Missense_Mutation	SNP	C	C	T	rs28361506		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:248028136C>T	ENST00000366481.3	+	3	694	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	216						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGACTGCGGGAGAGCAA	0.662																																						ENST00000366481.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63						c.(646-648)Cgg>Tgg		tripartite motif containing 58		C	TRP/ARG	0,4406		0,0,2203	27.0	29.0	29.0		646	3.4	0.2	1	dbSNP_125	29	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TRIM58	NM_015431.3	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	216/487	248028136	1,13005	2203	4300	6503	SO:0001583	missense	25893					intracellular	zinc ion binding	g.chr1:248028136C>T	AF327057	CCDS1636.1	1q44	2013-01-09	2011-01-25		ENSG00000162722	ENSG00000162722		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	24150	protein-coding gene	gene with protein product			"""tripartite motif-containing 58"""				Standard	NM_015431		Approved	BIA2	uc001ido.3	Q8NG06	OTTHUMG00000040203	ENST00000366481.3:c.646C>T	1.37:g.248028136C>T	ENSP00000355437:p.Arg216Trp						p.R216W	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0319)		3	694	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	216					Q6B0H9	Missense_Mutation	SNP	ENST00000366481.3	37	c.646C>T	CCDS1636.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.151754	0.38021	0.0	1.16E-4	ENSG00000162722	ENST00000366481	T	0.05382	3.45	4.35	3.36	0.38483	.	0.131051	0.33217	N	0.005145	T	0.21347	0.0514	M	0.86268	2.805	0.30934	N	0.726538	D	0.76494	0.999	P	0.61477	0.889	T	0.04153	-1.0973	10	0.72032	D	0.01	.	9.2175	0.37355	0.3172:0.6828:0.0:0.0	.	216	Q8NG06	TRI58_HUMAN	W	216	ENSP00000355437:R216W	ENSP00000355437:R216W	R	+	1	2	TRIM58	246094759	0.000000	0.05858	0.198000	0.23420	0.077000	0.17291	-0.204000	0.09425	2.413000	0.81919	0.655000	0.94253	CGG		0.662	TRIM58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096860.1	NM_015431		20	150	0	0	0	1	0	20	150				
KCNJ12	3768	broad.mit.edu	37	17	21319100	21319100	+	Missense_Mutation	SNP	G	G	A	rs534524767	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:21319100G>A	ENST00000583088.1	+	3	1341	c.446G>A	c.(445-447)cGc>cAc	p.R149H	KCNJ12_ENST00000331718.5_Missense_Mutation_p.R149H	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	149					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	TACGGGCTGCGCTGTGTGACG	0.642										Prostate(3;0.18)			.|||	5	0.000998403	0.0	0.0	5008	,	,		35116	0.0		0.0	False		,,,				2504	0.0051					ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(445-447)cGc>cAc		potassium inwardly-rectifying channel, subfamily J, member 12							55.0	53.0	54.0					17																	21319100		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319100G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.446G>A	17.37:g.21319100G>A	ENSP00000463778:p.Arg149His	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.R149H	p.R149H	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1341	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.446G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	29.4	4.998856	0.93227	.	.	ENSG00000184185	ENST00000331718	D	0.97016	-4.21	5.32	5.32	0.75619	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98735	0.9575	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99663	1.0994	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	149	Q14500	IRK12_HUMAN	H	149	ENSP00000328150:R149H	ENSP00000328150:R149H	R	+	2	0	KCNJ12	21259693	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	CGC		0.642	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		16	292	0	0	0	1	0	16	292				
GAL3ST3	89792	broad.mit.edu	37	11	65810433	65810433	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:65810433C>T	ENST00000312006.4	-	3	1122	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A281T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	281					monosaccharide metabolic process (GO:0005996)|oligosaccharide metabolic process (GO:0009311)|poly-N-acetyllactosamine metabolic process (GO:0030309)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|carbohydrate binding (GO:0030246)|galactose 3-O-sulfotransferase activity (GO:0050694)|galactosylceramide sulfotransferase activity (GO:0001733)|proteoglycan sulfotransferase activity (GO:0050698)			kidney(1)|lung(9)|ovary(2)|skin(2)	14						gccagcgccgcggggATGGCG	0.756																																						ENST00000312006.4																			0				kidney(1)|lung(9)|ovary(2)|skin(2)	14						c.(841-843)Gcg>Acg		galactose-3-O-sulfotransferase 3							3.0	4.0	3.0					11																	65810433		1703	3296	4999	SO:0001583	missense	89792				monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity	g.chr11:65810433C>T	AY026481	CCDS8128.1	11q13.1	2014-08-12			ENSG00000175229	ENSG00000175229		"""Sulfotransferases, membrane-bound"""	24144	protein-coding gene	gene with protein product		608234				11323440, 11356829	Standard	NM_033036		Approved	GAL3ST2	uc001ogw.3	Q96A11	OTTHUMG00000166667	ENST00000312006.4:c.841G>A	11.37:g.65810433C>T	ENSP00000308591:p.Ala281Thr					GAL3ST3_ENST00000527878.1_Missense_Mutation_p.A281T	p.A281T	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN			3	1122	-			281					Q14D05	Missense_Mutation	SNP	ENST00000312006.4	37	c.841G>A	CCDS8128.1	.	.	.	.	.	.	.	.	.	.	C	4.128	0.022068	0.08006	.	.	ENSG00000175229	ENST00000312006;ENST00000527878	T;T	0.14640	2.49;2.49	4.49	2.58	0.30949	.	0.711911	0.12996	N	0.422026	T	0.06142	0.0159	N	0.16833	0.445	0.25445	N	0.988058	B	0.34313	0.448	B	0.26517	0.07	T	0.37663	-0.9696	10	0.14656	T	0.56	-8.5029	5.9018	0.18970	0.1877:0.7113:0.0:0.1009	.	281	Q96A11	G3ST3_HUMAN	T	281	ENSP00000308591:A281T;ENSP00000434829:A281T	ENSP00000308591:A281T	A	-	1	0	GAL3ST3	65567009	0.004000	0.15560	0.976000	0.42696	0.149000	0.21700	0.363000	0.20301	0.427000	0.26145	-1.512000	0.00943	GCG		0.756	GAL3ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391052.1	NM_033036		10	35	0	0	0	1	0	10	35				
ZNF418	147686	broad.mit.edu	37	19	58437576	58437576	+	Missense_Mutation	SNP	C	C	T	rs373108176		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:58437576C>T	ENST00000396147.1	-	4	2264	c.1973G>A	c.(1972-1974)cGa>cAa	p.R658Q	ZNF418_ENST00000599086.1_5'Flank|ZNF418_ENST00000599852.1_Missense_Mutation_p.R573Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q|ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.R658Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		AGAAGAGCTTCGATGAAATGA	0.413																																						ENST00000396147.1																			0				cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31						c.(1972-1974)cGa>cAa		zinc finger protein 418		C	GLN/ARG	0,4404		0,0,2202	111.0	114.0	113.0		1973	-1.4	0.0	19		113	1,8597		0,1,4298	no	missense	ZNF418	NM_133460.1	43	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	658/677	58437576	1,13001	2202	4299	6501	SO:0001583	missense	147686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58437576C>T	AB075836, AY695825	CCDS42642.1	19q13.43	2013-01-08				ENSG00000196724		"""Zinc fingers, C2H2-type"", ""-"""	20647	protein-coding gene	gene with protein product						11853319	Standard	NM_133460		Approved	KIAA1956, FLJ31551	uc002qqs.1	Q8TF45		ENST00000396147.1:c.1973G>A	19.37:g.58437576C>T	ENSP00000379451:p.Arg658Gln					ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.R658Q|ZNF418_ENST00000425570.3_Missense_Mutation_p.R679Q|ZNF418_ENST00000599852.1_Missense_Mutation_p.R573Q	p.R658Q	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)	4	2264	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	658					Q2M1S2|Q670L5|Q96N18	Missense_Mutation	SNP	ENST00000396147.1	37	c.1973G>A	CCDS42642.1	.	.	.	.	.	.	.	.	.	.	.	3.656	-0.070523	0.07228	0.0	1.16E-4	ENSG00000196724	ENST00000396147;ENST00000425570;ENST00000545403	T;T	0.07567	3.18;3.18	2.41	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02267	0.0070	N	0.02334	-0.595	0.09310	N	1	B	0.24132	0.098	B	0.10450	0.005	T	0.44283	-0.9338	9	0.02654	T	1	.	6.7371	0.23415	0.0:0.4089:0.0:0.5911	.	658	Q8TF45	ZN418_HUMAN	Q	658;679;624	ENSP00000379451:R658Q;ENSP00000407039:R679Q	ENSP00000379451:R658Q	R	-	2	0	ZNF418	63129388	0.000000	0.05858	0.000000	0.03702	0.831000	0.47069	-3.966000	0.00324	-0.253000	0.09514	0.313000	0.20887	CGA		0.413	ZNF418-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466693.1	NM_133460		13	504	0	0	0	1	0	13	504				
MMP16	4325	broad.mit.edu	37	8	89198805	89198805	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:89198805C>T	ENST00000286614.6	-	3	585	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	102					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TCAGGTACACCGCATCGGGGC	0.378																																						ENST00000286614.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						c.(304-306)Ggt>Agt		matrix metallopeptidase 16 (membrane-inserted)							168.0	149.0	155.0					8																	89198805		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89198805C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.304G>A	8.37:g.89198805C>T	ENSP00000286614:p.Gly102Ser					MMP16_ENST00000544227.1_5'UTR	p.G102S	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN			3	585	-			102					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.304G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	31	5.102432	0.94245	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.65549	-0.16;-0.16	5.72	5.72	0.89469	Peptidoglycan binding-like (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81029	0.4738	M	0.80847	2.515	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.985	T	0.79757	-0.1669	10	0.41790	T	0.15	.	19.8778	0.96885	0.0:1.0:0.0:0.0	.	102;102	P51512-2;P51512	.;MMP16_HUMAN	S	102;119	ENSP00000286614:G102S;ENSP00000429147:G119S	ENSP00000286614:G102S	G	-	1	0	MMP16	89267921	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.710000	0.92621	0.585000	0.79938	GGT		0.378	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		50	762	0	0	0	1	0	50	762				
ANAPC1	64682	broad.mit.edu	37	2	112608394	112608394	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	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																																						ENST00000341068.3																			5	Substitution - Missense(5)	p.T537A(5)	lung(3)|kidney(1)|endometrium(1)	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						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_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN			14	2381	-			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		0.433	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254045.2	NM_022662		6	440	0	0	0	1	0	6	440				
LOC644669	644669	broad.mit.edu	37	18	15323276	15323276	+	RNA	SNP	A	A	T	rs200953619		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:15323276A>T	ENST00000455308.2	-	0	572				RNU6-721P_ENST00000410155.1_RNA	NR_027417.1																						ATCAACTGCAATTGCATTTGC	0.308																																						ENST00000455308.2																			0																																																			0							g.chr18:15323276A>T																													18.37:g.15323276A>T								NR_027417.1						0	572	-									RNA	SNP	ENST00000455308.2	37																																																																																						0.308	AP005901.1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373635.1			12	48	0	0	0	1	0	12	48				
SLC25A52	147407	broad.mit.edu	37	18	29340508	29340508	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:29340508A>G	ENST00000579441.2	-	1	116	c.117T>C	c.(115-117)tgT>tgC	p.C39C	SLC25A52_ENST00000269205.5_Silent_p.C49C			Q3SY17	S2552_HUMAN	solute carrier family 25, member 52	39					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											TGAAGGCTGCACAGCAGCCAC	0.428																																						ENST00000269205.5																			0											c.(145-147)tgT>tgC		solute carrier family 25, member 52							97.0	94.0	95.0					18																	29340508		2203	4300	6503	SO:0001819	synonymous_variant	147407				transport	integral to membrane|mitochondrial inner membrane		g.chr18:29340508A>G		CCDS32812.1, CCDS32812.2	18q12.1	2013-07-15	2012-03-29	2012-03-29	ENSG00000141437	ENSG00000141437		"""Solute carriers"""	23324	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 2"""	MCART2			Standard	NM_001034172		Approved		uc002kxa.3	Q3SY17	OTTHUMG00000179617	ENST00000579441.2:c.117T>C	18.37:g.29340508A>G						SLC25A52_ENST00000579441.2_Silent_p.C39C	p.C49C	NM_001034172.2	NP_001029344.3	Q3SY17	MCAR2_HUMAN			1	335	-			39						Silent	SNP	ENST00000579441.2	37	c.147T>C																																																																																					0.428	SLC25A52-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_084000		5	557	0	0	0	1	0	5	557				
DNAH5	1767	broad.mit.edu	37	5	13776708	13776708	+	Silent	SNP	G	G	A	rs563907105		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:13776708G>A	ENST00000265104.4	-	55	9317	c.9213C>T	c.(9211-9213)caC>caT	p.H3071H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3071	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGAAGTAGTCGTGCAGGTTCT	0.468									Kartagener syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		18448	0.0		0.0	False		,,,				2504	0.0					ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(9211-9213)caC>caT		dynein, axonemal, heavy chain 5							114.0	105.0	108.0					5																	13776708		2203	4300	6503	SO:0001819	synonymous_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13776708G>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9213C>T	5.37:g.13776708G>A							p.H3071H	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			55	9317	-	Lung NSC(4;0.00476)		3071			AAA 4 (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	c.9213C>T	CCDS3882.1																																																																																				0.468	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		8	567	0	0	0	1	0	8	567				
MERTK	10461	broad.mit.edu	37	2	112785977	112785977	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:112785977A>G	ENST00000295408.4	+	19	2793	c.2536A>G	c.(2536-2538)Acc>Gcc	p.T846A	MERTK_ENST00000409780.1_Missense_Mutation_p.T670A|MERTK_ENST00000421804.2_Missense_Mutation_p.T846A			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	846	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						AGACCGCCCCACCTTTTCAGT	0.443																																						ENST00000295408.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(2536-2538)Acc>Gcc		c-mer proto-oncogene tyrosine kinase							64.0	71.0	68.0					2																	112785977		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112785977A>G	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.2536A>G	2.37:g.112785977A>G	ENSP00000295408:p.Thr846Ala					MERTK_ENST00000409780.1_Missense_Mutation_p.T670A|MERTK_ENST00000421804.2_Missense_Mutation_p.T846A	p.T846A			Q12866	MERTK_HUMAN			19	2793	+			846			Protein kinase.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.2536A>G	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	A	11.42	1.634279	0.29068	.	.	ENSG00000153208	ENST00000295408;ENST00000421804;ENST00000393237;ENST00000409780;ENST00000449344	T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22	5.75	1.76	0.24704	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.494897	0.14911	U	0.291237	T	0.60932	0.2307	M	0.64676	1.99	0.18873	N	0.999985	B	0.20988	0.05	B	0.25614	0.062	T	0.55617	-0.8113	10	0.62326	D	0.03	-7.7489	6.9481	0.24530	0.4709:0.126:0.0:0.4031	.	846	Q12866	MERTK_HUMAN	A	846;846;505;670;170	ENSP00000295408:T846A;ENSP00000389152:T846A;ENSP00000387277:T670A;ENSP00000412660:T170A	ENSP00000295408:T846A	T	+	1	0	MERTK	112502448	0.001000	0.12720	0.045000	0.18777	0.584000	0.36387	0.722000	0.25925	0.040000	0.15660	0.533000	0.62120	ACC		0.443	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			33	351	0	0	0	1	0	33	351				
IRX6	79190	broad.mit.edu	37	16	55361532	55361532	+	Nonsense_Mutation	SNP	C	C	T	rs554682141		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:55361532C>T	ENST00000290552.7	+	4	1780	c.448C>T	c.(448-450)Cga>Tga	p.R150*	RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	150					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CGCCGGTCGCCGAAAGAACGC	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		17281	0.001		0.0	False		,,,				2504	0.0					ENST00000290552.7																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(448-450)Cga>Tga		iroquois homeobox 6							71.0	57.0	62.0					16																	55361532		2198	4300	6498	SO:0001587	stop_gained	79190					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:55361532C>T	AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.448C>T	16.37:g.55361532C>T	ENSP00000290552:p.Arg150*					RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR	p.R150*	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN			4	1780	+			150					B2RN06|Q7Z2K0	Nonsense_Mutation	SNP	ENST00000290552.7	37	c.448C>T	CCDS32449.1	.	.	.	.	.	.	.	.	.	.	C	47	13.157336	0.99723	.	.	ENSG00000159387	ENST00000290552	.	.	.	6.08	-6.48	0.01896	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7892	21.412	0.99953	0.7449:0.2551:0.0:0.0	.	.	.	.	X	150	.	ENSP00000290552:R150X	R	+	1	2	IRX6	53919033	0.747000	0.28283	0.913000	0.36048	0.165000	0.22458	1.262000	0.32992	-1.091000	0.03065	-0.989000	0.02550	CGA		0.577	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417445.4	NM_024335		12	165	0	0	0	1	0	12	165				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		13	117	0	0	0	1	0	13	117				
CREB1	1385	broad.mit.edu	37	2	208461780	208461780	+	Nonstop_Mutation	SNP	T	T	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:208461780T>G	ENST00000432329.2	+	9	1275	c.1024T>G	c.(1024-1026)Taa>Gaa	p.*342E	CREB1_ENST00000430624.1_Nonstop_Mutation_p.*328E|CREB1_ENST00000374397.4_Nonstop_Mutation_p.*231E|METTL21A_ENST00000432416.1_Intron|CREB1_ENST00000353267.3_Nonstop_Mutation_p.*328E|METTL21A_ENST00000425132.1_Intron|METTL21A_ENST00000458426.1_Intron	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	0					activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|cellular response to zinc ion (GO:0071294)|circadian rhythm (GO:0007623)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|lactation (GO:0007595)|lung saccule development (GO:0060430)|memory (GO:0007613)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription by competitive promoter binding (GO:0010944)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of cell size (GO:0008361)|response to drug (GO:0042493)|response to glucagon (GO:0033762)|response to organic substance (GO:0010033)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|Type I pneumocyte differentiation (GO:0060509)|viral process (GO:0016032)	nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	cAMP response element binding (GO:0035497)|enzyme binding (GO:0019899)|RNA polymerase II activating transcription factor binding (GO:0001102)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Naloxone(DB01183)	CAAATCAGATTAATTTGGGAT	0.338			T	EWSR1	"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""																																	ENST00000432329.2				Dom	yes		2	2q34	1385	T	cAMP responsive element binding protein 1			M	EWSR1		"""clear cell sarcoma, angiomatoid fibrous histiocytoma"""	EWSR1/CREB1(44)	0				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5						c.(1024-1026)Taa>Gaa		cAMP responsive element binding protein 1	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)						77.0	81.0	80.0					2																	208461780		2203	4300	6503	SO:0001578	stop_lost	1385				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|stress-activated MAPK cascade|synaptic transmission|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		protein dimerization activity|transcription cofactor activity	g.chr2:208461780T>G	M27691	CCDS2374.1, CCDS2375.1	2q34	2013-01-10			ENSG00000118260	ENSG00000118260		"""basic leucine zipper proteins"""	2345	protein-coding gene	gene with protein product		123810					Standard	NM_134442		Approved		uc002vcc.3	P16220	OTTHUMG00000132936	ENST00000432329.2:c.1024T>G	2.37:g.208461780T>G	ENSP00000387699:p.*342Gluext*4					CREB1_ENST00000374397.4_Nonstop_Mutation_p.*231E|CREB1_ENST00000353267.3_Nonstop_Mutation_p.*328E|METTL21A_ENST00000458426.1_Intron|CREB1_ENST00000430624.1_Nonstop_Mutation_p.*328E|METTL21A_ENST00000432416.1_Intron|METTL21A_ENST00000425132.1_Intron	p.*342E	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	9	1275	+			0					P21934|Q6V963|Q9UMA7	Nonstop_Mutation	SNP	ENST00000432329.2	37	c.1024T>G	CCDS2375.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.004439	0.54254	.	.	ENSG00000118260	ENST00000430624;ENST00000236996;ENST00000432329;ENST00000353267;ENST00000374397	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6539	0.77118	0.0:0.0:0.0:1.0	.	.	.	.	E	328;52;342;328;231	.	.	X	+	1	0	CREB1	208170025	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.997000	0.88414	2.296000	0.77279	0.482000	0.46254	TAA		0.338	CREB1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256467.3	NM_134442		58	235	0	0	0	1	0	58	235				
PWWP2B	170394	broad.mit.edu	37	10	134218205	134218205	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:134218205C>T	ENST00000305233.5	+	2	260	c.201C>T	c.(199-201)ggC>ggT	p.G67G	PWWP2B_ENST00000368609.4_Silent_p.G67G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	67										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		ACAGCCATGGCCGGGCTCCCG	0.697																																						ENST00000305233.5																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						c.(199-201)ggC>ggT		PWWP domain containing 2B							80.0	89.0	86.0					10																	134218205		2136	4275	6411	SO:0001819	synonymous_variant	170394							g.chr10:134218205C>T	AK128663	CCDS7667.2	10q26.3	2009-06-03	2007-10-22	2007-10-22	ENSG00000171813	ENSG00000171813			25150	protein-coding gene	gene with protein product			"""PWWP domain containing 2"""	PWWP2			Standard	NM_001098637		Approved	bA432J24.1, FLJ46823	uc001lll.4	Q6NUJ5	OTTHUMG00000019286	ENST00000305233.5:c.201C>T	10.37:g.134218205C>T						PWWP2B_ENST00000368609.4_Silent_p.G67G	p.G67G	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)	2	260	+		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)	67					A6NM90|B5MDQ1|H9KV61|Q5SZI0|Q6ZQX5|Q96F43	Silent	SNP	ENST00000305233.5	37	c.201C>T	CCDS7667.2																																																																																				0.697	PWWP2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051075.3	NM_138499		6	850	0	0	0	1	0	6	850				
SHROOM4	57477	broad.mit.edu	37	X	50376908	50376908	+	Missense_Mutation	SNP	C	C	T	rs3761506	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:50376908C>T	ENST00000289292.7	-	4	2448	c.2165G>A	c.(2164-2166)cGt>cAt	p.R722H	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R606H|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R722H			Q9ULL8	SHRM4_HUMAN	shroom family member 4	722			R -> H (in dbSNP:rs3761506).		actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ATGACCTCCACGGACTCCACA	0.557													C|||	18	0.00476821	0.0	0.0014	3775	,	,		14433	0.0169		0.0	False		,,,				2504	0.0					ENST00000376020.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52						c.(2164-2166)cGt>cAt		shroom family member 4		C	HIS/ARG	5,3830		0,5,1627,571	57.0	43.0	47.0		2165	-2.1	0.0	X	dbSNP_107	47	0,6728		0,0,2428,1872	yes	missense	SHROOM4	NM_020717.3	29	0,5,4055,2443	TT,TC,CC,C		0.0,0.1304,0.0473	possibly-damaging	722/1494	50376908	5,10558	2203	4300	6503	SO:0001583	missense	57477				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	g.chrX:50376908C>T	AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.2165G>A	X.37:g.50376908C>T	ENSP00000289292:p.Arg722His					SHROOM4_ENST00000460112.3_Missense_Mutation_p.R606H|SHROOM4_ENST00000289292.7_Missense_Mutation_p.R722H	p.R722H	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN			4	2190	-	Ovarian(276;0.236)		722		R -> H (in dbSNP:rs3761506).			A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	ENST00000289292.7	37	c.2165G>A	CCDS35277.1	9	0.0054249547920434	0	0.0	0	0.0	9	0.01584507042253521	0	0.0	C	0.008	-1.928348	0.00493	0.001304	0.0	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	D;D;D	0.88046	-2.33;-2.33;-2.33	5.52	-2.07	0.07276	.	2.325820	0.00911	N	0.002463	T	0.65647	0.2711	L	0.29908	0.895	0.09310	N	1	B	0.17667	0.023	B	0.12837	0.008	T	0.60016	-0.7345	10	0.13470	T	0.59	.	6.0462	0.19762	0.1932:0.4336:0.0:0.3732	rs3761506;rs52829651;rs3761506	722	Q9ULL8	SHRM4_HUMAN	H	722;722;606	ENSP00000289292:R722H;ENSP00000365188:R722H;ENSP00000421450:R606H	ENSP00000289292:R722H	R	-	2	0	SHROOM4	50393648	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.524000	0.06222	-1.613000	0.01577	-3.241000	0.00051	CGT		0.557	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056564.4	NM_020717		29	94	0	0	0	1	0	29	94				
RPL10L	140801	broad.mit.edu	37	14	47120810	47120810	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:47120810C>A	ENST00000298283.3	-	1	218	c.130G>T	c.(130-132)Gat>Tat	p.D44Y		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	44					spermatogenesis (GO:0007283)|translation (GO:0006412)	cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	structural constituent of ribosome (GO:0003735)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GGGAACTCATCCACTTTTGCC	0.502																																						ENST00000298283.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						c.(130-132)Gat>Tat		ribosomal protein L10-like							100.0	102.0	101.0					14																	47120810		2203	4300	6503	SO:0001583	missense	140801				spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	g.chr14:47120810C>A	AB063608	CCDS32071.1	14q21.2	2011-09-15			ENSG00000165496	ENSG00000165496		"""L ribosomal proteins"""	17976	protein-coding gene	gene with protein product						19123937	Standard	NM_080746		Approved		uc001wwg.3	Q96L21	OTTHUMG00000157869	ENST00000298283.3:c.130G>T	14.37:g.47120810C>A	ENSP00000298283:p.Asp44Tyr						p.D44Y	NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN			1	218	-			44					Q8IUD1	Missense_Mutation	SNP	ENST00000298283.3	37	c.130G>T	CCDS32071.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777196	0.70107	.	.	ENSG00000165496	ENST00000298283	T	0.74209	-0.82	4.32	4.32	0.51571	Ribosomal protein L10e/L16 (2);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	H	0.98629	4.285	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	D	0.94002	0.7276	10	0.87932	D	0	-39.9655	15.1202	0.72438	0.0:1.0:0.0:0.0	.	44	Q96L21	RL10L_HUMAN	Y	44	ENSP00000298283:D44Y	ENSP00000298283:D44Y	D	-	1	0	RPL10L	46190560	1.000000	0.71417	0.997000	0.53966	0.495000	0.33615	7.003000	0.76310	2.688000	0.91661	0.655000	0.94253	GAT		0.502	RPL10L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349819.1			92	476	1	0	1.40862e-40	1	1.526e-40	92	476				
NBPF15	284565	broad.mit.edu	37	1	148594439	148594439	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:148594439A>G	ENST00000369187.3	+	19	2301	c.1812A>G	c.(1810-1812)ttA>ttG	p.L604L	NBPF15_ENST00000442702.2_Silent_p.L604L	NM_173638.3	NP_775909.2	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	604	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					CTGAAGTCTTACAGGACTCAC	0.463																																						ENST00000442702.2																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12						c.(1810-1812)ttA>ttG		neuroblastoma breakpoint family, member 15																																				SO:0001819	synonymous_variant	284565					cytoplasm		g.chr1:148594439A>G	BC023087	CCDS72852.1	1q21.1	2014-01-16			ENSG00000243452	ENSG00000266338		"""neuroblastoma breakpoint family"""	28791	protein-coding gene	gene with protein product		610414, 614005	"""neuroblastoma breakpoint family, member 16"""	NBPF16		16079250	Standard	NM_173638		Approved	MGC8902	uc001esc.2	Q8N660	OTTHUMG00000013634	ENST00000369187.3:c.1812A>G	1.37:g.148594439A>G						NBPF15_ENST00000369187.3_Silent_p.L604L	p.L604L	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN			21	2879	+	all_hematologic(923;0.032)		604			NBPF 6.		Q3BBV9|Q8IX77	Silent	SNP	ENST00000369187.3	37	c.1812A>G	CCDS932.1																																																																																				0.463	NBPF15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038609.3	NM_173638		9	1561	0	0	0	1	0	9	1561				
RGPD3	653489	broad.mit.edu	37	2	107049681	107049681	+	Missense_Mutation	SNP	T	T	C	rs369310197		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:107049681T>C	ENST00000409886.3	-	16	2353	c.2266A>G	c.(2266-2268)Aac>Gac	p.N756D	RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	756					protein targeting to Golgi (GO:0000042)			p.N756D(6)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCACTATAGTTTTCGAGTTCC	0.373																																						ENST00000409886.3																			6	Substitution - Missense(6)	p.N756D(6)	endometrium(6)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2266-2268)Aac>Gac		RANBP2-like and GRIP domain containing 3							164.0	133.0	142.0					2																	107049681		692	1590	2282	SO:0001583	missense	653489				intracellular transport		binding	g.chr2:107049681T>C		CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.2266A>G	2.37:g.107049681T>C	ENSP00000386588:p.Asn756Asp					RGPD3_ENST00000304514.7_Missense_Mutation_p.N756D	p.N756D	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2353	-			756					B8ZZM4	Missense_Mutation	SNP	ENST00000409886.3	37	c.2266A>G	CCDS46379.1	.	.	.	.	.	.	.	.	.	.	.	0.003	-2.481585	0.00163	.	.	ENSG00000153165	ENST00000409886;ENST00000452099;ENST00000304514	T;T	0.23754	1.89;1.89	2.34	2.34	0.29019	.	.	.	.	.	T	0.07638	0.0192	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37979	-0.9682	9	0.02654	T	1	-2.2547	7.1228	0.25454	0.0:0.8499:0.0:0.1501	.	756	A6NKT7	RGPD3_HUMAN	D	756;514;756	ENSP00000386588:N756D;ENSP00000303659:N756D	ENSP00000303659:N756D	N	-	1	0	RGPD3	106416113	0.974000	0.33945	0.242000	0.24170	0.003000	0.03518	4.107000	0.57811	0.325000	0.23359	-1.206000	0.01644	AAC		0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		9	1237	0	0	0	1	0	9	1237				
ANKRD30B	374860	broad.mit.edu	37	18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	rs372948852		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171.0	145.0	152.0					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr					ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	p.D570Y	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		5	156	1	0	1.06961e-07	1	1.08552e-07	5	156				
TNR	7143	broad.mit.edu	37	1	175292513	175292513	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:175292513G>A	ENST00000367674.2	-	23	4765	c.4057C>T	c.(4057-4059)Cgg>Tgg	p.R1353W	RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1353W			Q92752	TENR_HUMAN	tenascin R	1353					associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGGACTGCCGTTTTCTCCCT	0.478																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(4057-4059)Cgg>Tgg		tenascin R							153.0	138.0	143.0					1																	175292513		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175292513G>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.4057C>T	1.37:g.175292513G>A	ENSP00000356646:p.Arg1353Trp					RP3-518E13.2_ENST00000569593.1_RNA|TNR_ENST00000263525.2_Missense_Mutation_p.R1353W	p.R1353W	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			23	4765	-	Renal(580;0.146)		1353					C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.4057C>T	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	15.41	2.823924	0.50739	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.29142	1.58;1.58	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.45776	0.1359	L	0.47716	1.5	0.53005	D	0.99996	D	0.89917	1.0	D	0.63283	0.913	T	0.40213	-0.9575	10	0.87932	D	0	.	13.652	0.62316	0.0:0.0:0.8451:0.1549	.	1353	Q92752	TENR_HUMAN	W	1353;1353;1263	ENSP00000356646:R1353W;ENSP00000263525:R1353W	ENSP00000263525:R1353W	R	-	1	2	TNR	173559136	1.000000	0.71417	1.000000	0.80357	0.104000	0.19210	3.266000	0.51569	2.513000	0.84729	0.561000	0.74099	CGG		0.478	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		50	555	0	0	0	1	0	50	555				
CACNA1G	8913	broad.mit.edu	37	17	48649968	48649968	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:48649968G>A	ENST00000359106.5	+	6	800	c.800G>A	c.(799-801)aGc>aAc	p.S267N	CACNA1G_ENST00000515765.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S267N	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	267					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGGATGAGAGCCCCTTCATC	0.667																																						ENST00000352832.5																			0				breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47						c.(799-801)aGc>aAc		calcium channel, voltage-dependent, T type, alpha 1G subunit	Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)						19.0	21.0	20.0					17																	48649968		2083	4207	6290	SO:0001583	missense	8913				axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	g.chr17:48649968G>A	AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.800G>A	17.37:g.48649968G>A	ENSP00000352011:p.Ser267Asn					CACNA1G_ENST00000507896.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S267N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S267N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S267N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S267N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S267N	p.S267N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		6	1172	+	Breast(11;6.7e-17)		267					D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	c.800G>A	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	g	5.134	0.210390	0.09757	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96522	-3.9;-3.9;-4.04;-3.84;-3.9;-3.91;-3.92;-4.01;-3.98;-3.99;-4.0;-3.87;-3.87;-3.94;-3.89;-3.85;-3.92;-3.89;-3.87;-3.92;-3.91;-3.87;-3.93;-3.87;-3.94;-3.94	5.36	4.37	0.52481	Ion transport (1);	0.547135	0.21976	N	0.066369	D	0.85991	0.5826	N	0.03608	-0.345	0.24066	N	0.995992	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.15052	0.008;0.003;0.003;0.003;0.007;0.002;0.012;0.007;0.012;0.006;0.005;0.002;0.001;0.005;0.012;0.002;0.006;0.001;0.003;0.003;0.003;0.003;0.003;0.001;0.001;0.003	T	0.73662	-0.3912	10	0.02654	T	1	.	7.0875	0.25266	0.3255:0.0:0.6745:0.0	.	267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267;267	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	N	267	ENSP00000353990:S267N;ENSP00000339302:S267N;ENSP00000392390:S267N;ENSP00000347078:S267N;ENSP00000409759:S267N;ENSP00000425522:S267N;ENSP00000426261:S267N;ENSP00000425451:S267N;ENSP00000422407:S267N;ENSP00000426814:S267N;ENSP00000427238:S267N;ENSP00000423112:S267N;ENSP00000420918:S267N;ENSP00000426172:S267N;ENSP00000423045:S267N;ENSP00000427173:S267N;ENSP00000426098:S267N;ENSP00000425698:S267N;ENSP00000426232:S267N;ENSP00000423317:S267N;ENSP00000350979:S267N;ENSP00000352011:S267N;ENSP00000414388:S267N;ENSP00000423155:S267N;ENSP00000422268:S267N;ENSP00000421518:S267N	ENSP00000339302:S267N	S	+	2	0	CACNA1G	46004967	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.681000	0.46926	1.156000	0.42514	0.505000	0.49811	AGC		0.667	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896		4	51	0	0	0	1	0	4	51				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			5	290	0	0	0	1	0	5	290				
PRPF4	9128	broad.mit.edu	37	9	116049072	116049072	+	Missense_Mutation	SNP	C	C	T	rs575911571		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:116049072C>T	ENST00000374198.4	+	9	1001	c.899C>T	c.(898-900)gCg>gTg	p.A300V	PRPF4_ENST00000374199.4_Missense_Mutation_p.A299V	NM_001244926.1|NM_004697.4	NP_001231855.1|NP_004688.2	O43172	PRP4_HUMAN	pre-mRNA processing factor 4	300					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U4/U6 snRNP (GO:0071001)				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GCCTCTTGTGCGGCTGATGGC	0.468													C|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					ENST00000374199.4																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						c.(895-897)gCg>gTg		pre-mRNA processing factor 4							353.0	352.0	353.0					9																	116049072		2203	4300	6503	SO:0001583	missense	9128					Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding	g.chr9:116049072C>T	AF001687	CCDS6791.1, CCDS59142.1	9q31-q33	2013-10-03	2013-10-03		ENSG00000136875	ENSG00000136875		"""WD repeat domain containing"""	17349	protein-coding gene	gene with protein product	"""PRP4/STK/WD splicing factor"", ""U4/U6 small nuclear ribonucleoprotein Prp4"""	607795	"""PRP4 pre-mRNA processing factor 4 homolog (yeast)"""			9257651, 9404889	Standard	NM_004697		Approved	Prp4p, HPRP4, HPRP4P, PRP4, SNRNP60	uc004bgx.3	O43172	OTTHUMG00000020517	ENST00000374198.4:c.899C>T	9.37:g.116049072C>T	ENSP00000363313:p.Ala300Val					PRPF4_ENST00000374198.4_Missense_Mutation_p.A300V	p.A299V			O43172	PRP4_HUMAN			9	1297	+			300					O43445|O43864|Q5T1M8|Q96DG2|Q96IK4	Missense_Mutation	SNP	ENST00000374198.4	37	c.896C>T	CCDS6791.1	.	.	.	.	.	.	.	.	.	.	C	32	5.163644	0.94727	.	.	ENSG00000136875	ENST00000374199;ENST00000374198	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.155793	0.56097	D	0.000025	T	0.72244	0.3436	L	0.56340	1.77	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.65140	0.932;0.849	T	0.73040	-0.4108	10	0.72032	D	0.01	.	19.0872	0.93209	0.0:1.0:0.0:0.0	.	315;300	Q59EL4;O43172	.;PRP4_HUMAN	V	299;300	ENSP00000363315:A299V;ENSP00000363313:A300V	ENSP00000363313:A300V	A	+	2	0	PRPF4	115088893	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.378000	0.79679	2.752000	0.94435	0.655000	0.94253	GCG		0.468	PRPF4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053708.2	NM_004697		10	1785	0	0	0	1	0	10	1785				
INSM1	3642	broad.mit.edu	37	20	20349690	20349690	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:20349690C>T	ENST00000310227.1	+	1	926	c.779C>T	c.(778-780)gCg>gTg	p.A260V		NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN	insulinoma-associated 1	260					adrenal chromaffin cell differentiation (GO:0061104)|cell cycle (GO:0007049)|endocrine pancreas development (GO:0031018)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|noradrenergic neuron development (GO:0003358)|norepinephrine biosynthetic process (GO:0042421)|pancreatic A cell differentiation (GO:0003310)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neural precursor cell proliferation (GO:2000179)|regulation of gene expression (GO:0010468)|regulation of protein complex assembly (GO:0043254)|sympathetic ganglion development (GO:0061549)|transcription, DNA-templated (GO:0006351)|transdifferentiation (GO:0060290)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell differentiation (GO:0003309)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|cyclin binding (GO:0030332)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			liver(1)|lung(3)|ovary(1)|prostate(1)	6				READ - Rectum adenocarcinoma(2;0.0649)		gcggggggcgcggcgcggccg	0.716																																						ENST00000310227.1																			0				liver(1)|lung(3)|ovary(1)|prostate(1)	6						c.(778-780)gCg>gTg		insulinoma-associated 1							5.0	6.0	6.0					20																	20349690		1939	3835	5774	SO:0001583	missense	3642				endocrine pancreas development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:20349690C>T		CCDS13143.1	20p11.2	2012-07-10			ENSG00000173404	ENSG00000173404			6090	protein-coding gene	gene with protein product		600010				8188699, 16569215	Standard	NM_002196		Approved	IA-1, IA1	uc002wrx.3	Q01101	OTTHUMG00000032004	ENST00000310227.1:c.779C>T	20.37:g.20349690C>T	ENSP00000312631:p.Ala260Val						p.A260V	NM_002196.2	NP_002187.1	Q01101	INSM1_HUMAN		READ - Rectum adenocarcinoma(2;0.0649)	1	926	+			260						Missense_Mutation	SNP	ENST00000310227.1	37	c.779C>T	CCDS13143.1	.	.	.	.	.	.	.	.	.	.	C	4.993	0.184394	0.09495	.	.	ENSG00000173404	ENST00000310227	T	0.00711	5.8	3.53	2.46	0.29980	.	0.183785	0.33553	U	0.004798	T	0.00496	0.0016	N	0.12182	0.205	0.24619	N	0.993683	B	0.33103	0.397	B	0.20184	0.028	T	0.53906	-0.8372	10	0.41790	T	0.15	.	6.9677	0.24632	0.0:0.5981:0.2959:0.1059	.	260	Q01101	INSM1_HUMAN	V	260	ENSP00000312631:A260V	ENSP00000312631:A260V	A	+	2	0	INSM1	20297690	0.003000	0.15002	0.122000	0.21767	0.349000	0.29174	1.908000	0.39907	1.699000	0.51192	0.306000	0.20318	GCG		0.716	INSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078223.1	NM_002196		13	70	0	0	0	1	0	13	70				
KMT2C	58508	broad.mit.edu	37	7	151945602	151945602	+	Silent	SNP	G	G	A	rs202125566		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:151945602G>A	ENST00000262189.6	-	14	2135	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	KMT2C_ENST00000355193.2_Silent_p.G639G	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	639					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTTGATCTTCGCCACAAATAT	0.373																																						ENST00000355193.2																			0											c.(1915-1917)ggC>ggT		lysine (K)-specific methyltransferase 2C							61.0	58.0	59.0					7																	151945602		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151945602G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1917C>T	7.37:g.151945602G>A						KMT2C_ENST00000262189.6_Silent_p.G639G	p.G639G							14	2135	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.1917C>T	CCDS5931.1																																																																																				0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	289	0	0	0	1	0	6	289				
KRTAP4-11	653240	broad.mit.edu	37	17	39274291	39274291	+	Missense_Mutation	SNP	T	T	C	rs200214744|rs565505867	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:39274291T>C	ENST00000391413.2	-	1	315	c.277A>G	c.(277-279)Atg>Gtg	p.M93V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	93	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.M93V(4)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			TGGCAGCACATAGACTGGCAG	0.662																																						ENST00000391413.2																			4	Substitution - Missense(4)	p.M93V(4)	endometrium(3)|kidney(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(277-279)Atg>Gtg		keratin associated protein 4-11							6.0	10.0	8.0					17																	39274291		651	1556	2207	SO:0001583	missense	653240					keratin filament		g.chr17:39274291T>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.277A>G	17.37:g.39274291T>C	ENSP00000375232:p.Met93Val						p.M93V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	315	-		Breast(137;0.000496)	93			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.277A>G	CCDS45675.1	.	.	.	.	.	.	.	.	.	.	.	0.073	-1.199029	0.01581	.	.	ENSG00000212721	ENST00000391413	T	0.00580	6.43	4.25	-4.9	0.03094	.	.	.	.	.	T	0.00109	0.0003	N	0.00040	-2.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43097	-0.9412	9	0.02654	T	1	.	0.4739	0.00536	0.3479:0.2455:0.1203:0.2863	.	93	Q9BYQ6	KR411_HUMAN	V	93	ENSP00000375232:M93V	ENSP00000375232:M93V	M	-	1	0	KRTAP4-11	36527817	.	.	0.012000	0.15200	0.010000	0.07245	.	.	-1.319000	0.02286	-1.132000	0.01976	ATG		0.662	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			15	263	0	0	0	1	0	15	263				
C2CD2L	9854	broad.mit.edu	37	11	118984835	118984835	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:118984835G>A	ENST00000528586.1	+	9	983	c.913G>A	c.(913-915)Gca>Aca	p.A305T	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A558T			O14523	C2C2L_HUMAN	C2CD2-like	557						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						GGGCTATGCGGCATCCCTGGA	0.617																																						ENST00000336702.3																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1672-1674)Gca>Aca		C2CD2-like							111.0	111.0	111.0					11																	118984835		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984835G>A	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.913G>A	11.37:g.118984835G>A	ENSP00000433600:p.Ala305Thr					C2CD2L_ENST00000528586.1_Missense_Mutation_p.A305T	p.A558T	NM_014807.3	NP_055622.3	O14523	C2C2L_HUMAN			13	2031	+			557					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1672G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.232485	0.95207	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.44083	0.93;0.93	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.49350	1.555	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.61554	-0.7039	10	0.72032	D	0.01	2.3648	18.0563	0.89365	0.0:0.0:1.0:0.0	.	557;558	O14523;O14523-2	C2C2L_HUMAN;.	T	558;305	ENSP00000338885:A558T;ENSP00000433600:A305T	ENSP00000338885:A558T	A	+	1	0	C2CD2L	118490045	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	8.735000	0.91549	2.798000	0.96311	0.655000	0.94253	GCA		0.617	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	NM_014807		6	920	0	0	0	1	0	6	920				
ADRA1A	148	broad.mit.edu	37	8	26627895	26627895	+	Missense_Mutation	SNP	G	G	A	rs151273238	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:26627895G>A	ENST00000519229.1	-	2	1178	c.1172C>T	c.(1171-1173)aCg>aTg	p.T391M	ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000276393.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380573.3_Missense_Mutation_p.T391M			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	349					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	AACGCCATCCGTCTTGGAGAT	0.562													G|||	3	0.000599042	0.0008	0.0	5008	,	,		18274	0.001		0.0	False		,,,				2504	0.001					ENST00000380573.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36						c.(1171-1173)aCg>aTg		adrenoceptor alpha 1A	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	G	MET/THR,MET/THR,MET/THR,MET/THR	2,4404	4.2+/-10.8	0,2,2201	122.0	118.0	120.0		1172,1172,1172,1172	5.1	1.0	8	dbSNP_134	120	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense,missense,missense	ADRA1A	NM_000680.2,NM_033302.2,NM_033303.3,NM_033304.2	81,81,81,81	0,4,6499	AA,AG,GG		0.0233,0.0454,0.0308	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	391/467,391/430,391/476,391/456	26627895	4,13002	2203	4300	6503	SO:0001583	missense	148				activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr8:26627895G>A	L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1172C>T	8.37:g.26627895G>A	ENSP00000430793:p.Thr391Met					ADRA1A_ENST00000519229.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380586.1_Missense_Mutation_p.T391M|ADRA1A_ENST00000380581.2_Intron|ADRA1A_ENST00000276393.4_Missense_Mutation_p.T391M|ADRA1A_ENST00000380582.3_Missense_Mutation_p.T391M|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000354550.4_Missense_Mutation_p.T391M	p.T391M			P35348	ADA1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	3	2195	-		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)	391					Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37	c.1172C>T		2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	14.75	2.627392	0.46944	4.54E-4	2.33E-4	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.62941	2.02;0.07;0.05;-0.01;0.06;0.06	5.96	5.06	0.68205	.	0.667620	0.14213	N	0.333955	T	0.64159	0.2573	L	0.51422	1.61	0.80722	D	1	P;P;P;D	0.54772	0.521;0.954;0.851;0.968	B;P;B;B	0.46049	0.128;0.502;0.332;0.374	T	0.67122	-0.5750	10	0.72032	D	0.01	.	16.2148	0.82198	0.0:0.0:0.8577:0.1423	.	391;391;391;391	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	M	391	ENSP00000369960:T391M;ENSP00000369956:T391M;ENSP00000430793:T391M;ENSP00000346557:T391M;ENSP00000276393:T391M;ENSP00000369947:T391M	ENSP00000276393:T391M	T	-	2	0	ADRA1A	26683812	1.000000	0.71417	0.954000	0.39281	0.837000	0.47467	4.852000	0.62904	1.445000	0.47624	0.655000	0.94253	ACG		0.562	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303		74	566	0	0	0	1	0	74	566				
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31					glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)	anchored component of external side of plasma membrane (GO:0031362)	gamma-glutamyltransferase activity (GO:0003840)	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622																																						ENST00000335694.4																			6	Substitution - Missense(6)	p.M31T(6)	lung(4)|NS(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						c.(91-93)aTg>aCg		gamma-glutamyltransferase light chain 1							67.0	61.0	63.0					20																	23967157		2203	4300	6503	SO:0001583	missense	92086						gamma-glutamyltransferase activity	g.chr20:23967157A>G	AL133466	CCDS13163.1	20p11.21	2010-07-14	2008-03-10	2008-03-10	ENSG00000149435	ENSG00000149435		"""Gamma-glutamyltransferases"""	16437	protein-coding gene	gene with protein product		612338	"""gamma-glutamyltransferase-like activity 4"", ""gamma-glutamyltransferase-like activity 3"""	GGTLA4, GGTLA3		10843999, 18357469	Standard	NM_178311		Approved	dJ831C21.2, dJ831C21.1	uc002wtu.3	Q9BX51	OTTHUMG00000032095	ENST00000335694.4:c.92T>C	20.37:g.23967157A>G	ENSP00000337587:p.Met31Thr					GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN			2	296	-			31					D3DW43|Q08246	Missense_Mutation	SNP	ENST00000335694.4	37	c.92T>C	CCDS13163.1	.	.	.	.	.	.	.	.	.	.	a	0	-2.745202	0.00087	.	.	ENSG00000149435	ENST00000286890;ENST00000278765;ENST00000335694	T;T;T	0.05786	3.39;3.39;3.39	0.844	-1.69	0.08186	.	0.459428	0.22918	N	0.054055	T	0.01092	0.0036	N	0.00332	-1.63	0.20403	N	0.999909	B	0.02656	0.0	B	0.01281	0.0	T	0.28996	-1.0026	10	0.02654	T	1	-29.1837	4.9338	0.13930	0.5039:0.0:0.4961:0.0	.	31	Q9BX51	GGTL1_HUMAN	T	31	ENSP00000286890:M31T;ENSP00000278765:M31T;ENSP00000337587:M31T	ENSP00000278765:M31T	M	-	2	0	GGTLC1	23915157	0.993000	0.37304	0.024000	0.17045	0.024000	0.10985	1.453000	0.35167	-1.885000	0.01118	-1.888000	0.00539	ATG		0.622	GGTLC1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078366.2	NM_178311.2		13	371	0	0	0	1	0	13	371				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	517	0	0	0	1	0	6	517				
KIAA1407	57577	broad.mit.edu	37	3	113755633	113755633	+	Splice_Site	SNP	T	T	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113755633T>A	ENST00000295878.3	-	5	562	c.416A>T	c.(415-417)gAt>gTt	p.D139V	KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	139										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCACATAAATCTGGGGGAAA	0.294																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.e5-1		KIAA1407							66.0	62.0	63.0					3																	113755633		2203	4300	6503	SO:0001630	splice_region_variant	57577							g.chr3:113755633T>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.416-1A>T	3.37:g.113755633T>A						KIAA1407_ENST00000545063.1_5'UTR	p.D139_splice	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			5	562	-			139					B4DYL1|Q9P2E0	Splice_Site	SNP	ENST00000295878.3	37	c.415_splice	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	T	20.2	3.949426	0.73787	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.52983	1.26;0.64	5.28	5.28	0.74379	.	0.056870	0.64402	D	0.000002	T	0.62660	0.2446	L	0.55481	1.735	0.80722	D	1	D;D;D	0.67145	0.996;0.996;0.989	P;D;P	0.66497	0.9;0.944;0.892	T	0.64521	-0.6388	10	0.56958	D	0.05	.	15.3725	0.74577	0.0:0.0:0.0:1.0	.	126;15;139	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	V	139;126;103	ENSP00000295878:D139V;ENSP00000418099:D126V	ENSP00000295878:D139V	D	-	2	0	KIAA1407	115238323	1.000000	0.71417	0.990000	0.47175	0.968000	0.65278	5.908000	0.69916	2.207000	0.71202	0.528000	0.53228	GAT		0.294	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817	Missense_Mutation	43	193	0	0	0	1	0	43	193				
DIO3	1735	broad.mit.edu	37	14	102028612	102028612	+	Missense_Mutation	SNP	G	G	A	rs538885762		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:102028612G>A	ENST00000510508.4	+	1	925	c.779G>A	c.(778-780)cGt>cAt	p.R260H	DIO3_ENST00000359323.3_Missense_Mutation_p.R234H|DIO3OS_ENST00000408206.1_lincRNA			P55073	IOD3_HUMAN	deiodinase, iodothyronine, type III	260					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|positive regulation of multicellular organism growth (GO:0040018)|small molecule metabolic process (GO:0044281)|thyroid hormone catabolic process (GO:0042404)|thyroid hormone generation (GO:0006590)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thyroxine 5'-deiodinase activity (GO:0004800)|thyroxine 5-deiodinase activity (GO:0033798)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TACTTCGAGCGTCTCTATGTC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		19221	0.0		0.0	False		,,,				2504	0.001					ENST00000510508.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22						c.(778-780)cGt>cAt		deiodinase, iodothyronine, type III							56.0	63.0	61.0					14																	102028612		2092	4200	6292	SO:0001583	missense	1735				cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity	g.chr14:102028612G>A	S79854	CCDS41992.1, CCDS41992.2	14q32	2012-10-08			ENSG00000197406	ENSG00000197406			2885	protein-coding gene	gene with protein product		601038		TXDI3		9787088, 7593630	Standard	NM_001362		Approved		uc021sdx.1	P55073	OTTHUMG00000160681	ENST00000510508.4:c.779G>A	14.37:g.102028612G>A	ENSP00000427336:p.Arg260His					DIO3_ENST00000359323.3_Missense_Mutation_p.R234H	p.R260H			P55073	IOD3_HUMAN			1	925	+		all_neural(303;0.185)	234					G3XAM0|Q8WVN5	Missense_Mutation	SNP	ENST00000510508.4	37	c.779G>A	CCDS41992.2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902680	0.92035	.	.	ENSG00000197406;ENSG00000258865	ENST00000359323;ENST00000510508	T;T	0.51325	0.71;0.71	3.86	3.86	0.44501	.	0.000000	0.64402	U	0.000011	T	0.74869	0.3773	M	0.92970	3.365	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82833	-0.0262	10	0.87932	D	0	.	14.9928	0.71401	0.0:0.0:1.0:0.0	.	234	P55073	IOD3_HUMAN	H	234;260	ENSP00000352273:R234H;ENSP00000427336:R260H	ENSP00000352273:R260H	R	+	2	0	DIO3;AL049836.1	101098365	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	9.515000	0.98015	1.998000	0.58463	0.462000	0.41574	CGT		0.617	DIO3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000361712.4	NM_001362		42	412	0	0	0	1	0	42	412				
POLR3B	55703	broad.mit.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Splice_Site_p.L310F	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																						ENST00000228347.4																			4	Substitution - Missense(4)	p.L368F(4)	kidney(3)|lung(1)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						c.e13-1		polymerase (RNA) III (DNA directed) polypeptide B							10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106820975C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T						POLR3B_ENST00000539066.1_Splice_Site_p.L310_splice|POLR3B_ENST00000549195.1_3'UTR	p.L368_splice	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN			13	1324	+			368					A8K6H0|B3KV73|F5H1E6|Q9NW59	Splice_Site	SNP	ENST00000228347.4	37	c.1101_splice	CCDS9105.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082	Missense_Mutation	9	86	0	0	0	1	0	9	86				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		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.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(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)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	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	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)Cga>Tga		cyclin-dependent kinase inhibitor 2A							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029				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 kinase binding	g.chr9:21971120G>A	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.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*	p.R80*	NM_000077.4	NP_000068.1	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	508	-		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)	80		R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		42	88	0	0	0	1	0	42	88				
LAX1	54900	broad.mit.edu	37	1	203739994	203739994	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:203739994C>T	ENST00000442561.2	+	2	518	c.128C>T	c.(127-129)gCg>gTg	p.A43V	LAX1_ENST00000367215.1_3'UTR|LAX1_ENST00000367217.5_Missense_Mutation_p.A27V	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	lymphocyte transmembrane adaptor 1	43					antigen receptor-mediated signaling pathway (GO:0050851)|B cell activation (GO:0042113)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)	p.A43V(1)		central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24	all_cancers(21;0.0915)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TCCGGGTTTGCGGGACTCCTC	0.483																																						ENST00000442561.2																			1	Substitution - Missense(1)	p.A43V(1)	endometrium(1)	central_nervous_system(2)|endometrium(3)|large_intestine(2)|lung(13)|prostate(1)|stomach(1)|urinary_tract(2)	24						c.(127-129)gCg>gTg		lymphocyte transmembrane adaptor 1							159.0	150.0	153.0					1																	203739994		2203	4300	6503	SO:0001583	missense	54900				B cell activation|immune response|inactivation of MAPK activity|intracellular signal transduction|negative regulation of T cell activation	Golgi apparatus|integral to membrane|plasma membrane	protein kinase binding|SH2 domain binding	g.chr1:203739994C>T	AK000347	CCDS1441.2, CCDS44297.1	1q32.1	2008-02-05			ENSG00000122188	ENSG00000122188			26005	protein-coding gene	gene with protein product	"""LAT-like membrane associated protein"", ""linker for activation of x cells"""					12359715	Standard	NM_017773		Approved	LAX, FLJ20340	uc001haa.3	Q8IWV1	OTTHUMG00000035908	ENST00000442561.2:c.128C>T	1.37:g.203739994C>T	ENSP00000406970:p.Ala43Val					LAX1_ENST00000367217.5_Missense_Mutation_p.A27V|LAX1_ENST00000367215.1_3'UTR	p.A43V	NM_017773.3	NP_060243.2	Q8IWV1	LAX1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	518	+	all_cancers(21;0.0915)		43					B7Z744|J3KP69|Q6NSZ6|Q9NXB4	Missense_Mutation	SNP	ENST00000442561.2	37	c.128C>T	CCDS1441.2	.	.	.	.	.	.	.	.	.	.	C	5.080	0.200425	0.09652	.	.	ENSG00000122188	ENST00000442561;ENST00000367217	.	.	.	5.38	1.43	0.22495	.	0.327636	0.26007	N	0.026914	T	0.20210	0.0486	L	0.32530	0.975	0.09310	N	1	B;B	0.33379	0.41;0.201	B;B	0.28139	0.086;0.055	T	0.18147	-1.0346	9	0.17832	T	0.49	-3.1747	7.1389	0.25543	0.0:0.6291:0.0:0.3709	.	27;43	B7Z744;Q8IWV1	.;LAX1_HUMAN	V	43;27	.	ENSP00000356186:A27V	A	+	2	0	LAX1	202006617	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.145000	0.16157	0.013000	0.14918	-0.254000	0.11334	GCG		0.483	LAX1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087468.3	NM_017773		6	607	0	0	0	1	0	6	607				
PPRC1	23082	broad.mit.edu	37	10	103907023	103907023	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:103907023G>A	ENST00000278070.2	+	9	4313	c.4274G>A	c.(4273-4275)cGc>cAc	p.R1425H	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1425	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CGCCGAGGCCGCAACAGCCGT	0.627																																						ENST00000278070.2																			0				central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56						c.(4273-4275)cGc>cAc		peroxisome proliferator-activated receptor gamma, coactivator-related 1							77.0	69.0	71.0					10																	103907023		2203	4298	6501	SO:0001583	missense	23082				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr10:103907023G>A	AF325193	CCDS7529.1, CCDS73186.1	10q24.32	2013-02-12	2006-10-17		ENSG00000148840	ENSG00000148840		"""RNA binding motif (RRM) containing"""	30025	protein-coding gene	gene with protein product			"""peroxisome proliferative activated receptor, gamma, coactivator-related 1"""			9628581, 11340167	Standard	XM_005269656		Approved	PRC, KIAA0595, MGC74642	uc001kum.3	Q5VV67	OTTHUMG00000018948	ENST00000278070.2:c.4274G>A	10.37:g.103907023G>A	ENSP00000278070:p.Arg1425His					PPRC1_ENST00000370012.1_Missense_Mutation_p.R392H|PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000413464.2_Intron	p.R1425H	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)	9	4313	+		Colorectal(252;0.122)	1425			Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.		Q5VV66|Q6P3U5|Q6P3W1|Q76N31|Q9BUJ3|Q9BZE5|Q9Y4E0	Missense_Mutation	SNP	ENST00000278070.2	37	c.4274G>A	CCDS7529.1	.	.	.	.	.	.	.	.	.	.	G	9.681	1.149221	0.21288	.	.	ENSG00000148840	ENST00000278070;ENST00000370012	T;T	0.37915	1.55;1.17	5.04	3.19	0.36642	.	0.407952	0.26903	N	0.021907	T	0.26011	0.0634	L	0.31926	0.97	0.80722	D	1	B;B	0.19817	0.039;0.023	B;B	0.17433	0.018;0.005	T	0.04454	-1.0950	10	0.21014	T	0.42	.	11.9659	0.53035	0.1434:0.0:0.8566:0.0	.	1305;1425	Q5VV67-2;Q5VV67	.;PPRC1_HUMAN	H	1425;392	ENSP00000278070:R1425H;ENSP00000359029:R392H	ENSP00000278070:R1425H	R	+	2	0	PPRC1	103897013	1.000000	0.71417	1.000000	0.80357	0.431000	0.31685	2.955000	0.49121	0.805000	0.34159	-0.379000	0.06801	CGC		0.627	PPRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050021.1	NM_015062		6	509	0	0	0	1	0	6	509				
TMEM52	339456	broad.mit.edu	37	1	1849752	1849752	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:1849752G>A	ENST00000310991.3	-	4	296	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	TMEM52_ENST00000378602.3_Missense_Mutation_p.P82S	NM_178545.3	NP_848640.1	Q8NDY8	TMM52_HUMAN	transmembrane protein 52	97						integral component of membrane (GO:0016021)				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACGTCGCAGGGCTGCCGTGCT	0.632																																						ENST00000378602.3																			0				NS(1)|prostate(1)|stomach(1)	3						c.(244-246)Ccc>Tcc		transmembrane protein 52							49.0	51.0	50.0					1																	1849752		2203	4299	6502	SO:0001583	missense	339456					integral to membrane		g.chr1:1849752G>A	AJ278736	CCDS35.1	1p36.33	2008-02-05			ENSG00000178821	ENSG00000178821			27916	protein-coding gene	gene with protein product							Standard	NM_178545		Approved		uc001aij.2	Q8NDY8	OTTHUMG00000000944	ENST00000310991.3:c.289C>T	1.37:g.1849752G>A	ENSP00000311122:p.Pro97Ser					TMEM52_ENST00000310991.3_Missense_Mutation_p.P97S	p.P82S			Q8NDY8	TMM52_HUMAN		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	1	484	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)	97					Q4VXS6|Q6UX25	Missense_Mutation	SNP	ENST00000310991.3	37	c.244C>T	CCDS35.1	.	.	.	.	.	.	.	.	.	.	.	13.04	2.117061	0.37339	.	.	ENSG00000178821	ENST00000378602;ENST00000310991	T;T	0.56776	0.44;0.44	3.92	2.99	0.34606	.	0.000000	0.52532	D	0.000072	T	0.57710	0.2072	M	0.68317	2.08	0.29515	N	0.853898	B;P	0.50819	0.06;0.939	B;P	0.50934	0.046;0.654	T	0.59542	-0.7435	10	0.72032	D	0.01	-26.7541	9.9162	0.41436	0.1049:0.0:0.8951:0.0	.	97;82	Q8NDY8;Q8NDY8-2	TMM52_HUMAN;.	S	82;97	ENSP00000367865:P82S;ENSP00000311122:P97S	ENSP00000311122:P97S	P	-	1	0	TMEM52	1839612	0.947000	0.32204	0.526000	0.27913	0.180000	0.23129	1.620000	0.36976	0.763000	0.33175	0.511000	0.50034	CCC		0.632	TMEM52-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000002781.1	NM_178545		25	250	0	0	0	1	0	25	250				
CLIP1	6249	broad.mit.edu	37	12	122825973	122825973	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:122825973G>A	ENST00000540338.1	-	10	1819	c.1778C>T	c.(1777-1779)aCc>aTc	p.T593I	CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I|CLIP1_ENST00000358808.2_Missense_Mutation_p.T582I			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	593					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTCCGTGGCGGTATACAGAGC	0.458																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1744-1746)aCc>aTc		CAP-GLY domain containing linker protein 1							142.0	143.0	142.0					12																	122825973		2203	4300	6503	SO:0001583	missense	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122825973G>A		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.1778C>T	12.37:g.122825973G>A	ENSP00000439093:p.Thr593Ile					CLIP1_ENST00000545889.1_Missense_Mutation_p.T283I|CLIP1_ENST00000540338.1_Missense_Mutation_p.T593I|CLIP1_ENST00000537178.1_Missense_Mutation_p.T547I|CLIP1_ENST00000361654.4_Missense_Mutation_p.T547I|CLIP1_ENST00000302528.7_Missense_Mutation_p.T582I	p.T582I	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	10	1899	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		593					A0AVD3|Q17RS4|Q29RG0	Missense_Mutation	SNP	ENST00000540338.1	37	c.1745C>T	CCDS58285.1	.	.	.	.	.	.	.	.	.	.	G	7.866	0.727207	0.15439	.	.	ENSG00000130779	ENST00000545889;ENST00000302528;ENST00000358808;ENST00000542885;ENST00000537178;ENST00000540338;ENST00000540304	T;T;T;T;T;T	0.61627	2.74;0.69;0.69;0.7;0.69;0.09	5.37	0.13	0.14746	.	0.766493	0.13191	N	0.406706	T	0.23965	0.0580	N	0.01352	-0.895	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.18116	-1.0347	10	0.44086	T	0.13	3.1754	5.4745	0.16688	0.372:0.1308:0.4972:0.0	.	283;547;582;593	F5H0N7;P30622-2;P30622-1;P30622	.;.;.;CLIP1_HUMAN	I	283;582;582;427;547;593;516	ENSP00000438743:T283I;ENSP00000303585:T582I;ENSP00000351665:T582I;ENSP00000445531:T547I;ENSP00000439093:T593I;ENSP00000437786:T516I	ENSP00000303585:T582I	T	-	2	0	CLIP1	121391926	0.848000	0.29623	0.000000	0.03702	0.566000	0.35808	2.612000	0.46343	0.033000	0.15463	0.561000	0.74099	ACC		0.458	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		7	885	0	0	0	1	0	7	885				
ACAN	176	broad.mit.edu	37	15	89388927	89388927	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:89388927G>A	ENST00000561243.1	+	6	1243	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	ACAN_ENST00000559004.1_Missense_Mutation_p.E415K|ACAN_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000439576.2_Missense_Mutation_p.E415K|ACAN_ENST00000558207.1_Missense_Mutation_p.E415K			P16112	PGCA_HUMAN	aggrecan	415					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|extracellular matrix structural constituent (GO:0005201)|hyaluronic acid binding (GO:0005540)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTGGAACCCGAGGAGCCCTT	0.612																																						ENST00000439576.2																			0				NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(1243-1245)Gag>Aag		aggrecan							59.0	69.0	65.0					15																	89388927		2138	4260	6398	SO:0001583	missense	176				cell adhesion		hyaluronic acid binding|sugar binding	g.chr15:89388927G>A	M55172	CCDS53970.1, CCDS53971.1	15q26.1	2013-05-07	2007-02-16	2007-02-16	ENSG00000157766	ENSG00000157766		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	319	protein-coding gene	gene with protein product	"""aggrecan proteoglycan"""	155760	"""chondroitin sulfate proteoglycan 1"", ""aggrecan 1"""	MSK16, CSPG1, AGC1		1985970	Standard	NM_013227		Approved	CSPGCP	uc010upo.1	P16112	OTTHUMG00000171989	ENST00000561243.1:c.1243G>A	15.37:g.89388927G>A	ENSP00000453342:p.Glu415Lys					ACAN_ENST00000352105.7_Missense_Mutation_p.E415K|ACAN_ENST00000558207.1_Missense_Mutation_p.E415K|ACAN_ENST00000559004.1_Missense_Mutation_p.E415K|ACAN_ENST00000561243.1_Missense_Mutation_p.E415K	p.E415K	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.146)		7	1617	+	Lung NSC(78;0.0392)|all_lung(78;0.077)		415					Q13650|Q9UCD3|Q9UCP4|Q9UCP5|Q9UDE0	Missense_Mutation	SNP	ENST00000561243.1	37	c.1243G>A	CCDS53970.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.010026	0.35415	.	.	ENSG00000157766	ENST00000439576;ENST00000352105;ENST00000268134	T;T	0.02236	4.62;4.38	5.52	3.57	0.40892	.	.	.	.	.	T	0.02494	0.0076	M	0.68952	2.095	0.09310	N	0.999998	P;P;P	0.43352	0.804;0.804;0.477	B;B;B	0.33392	0.124;0.163;0.032	T	0.38672	-0.9650	9	0.14252	T	0.57	-5.9214	6.9498	0.24538	0.0925:0.1781:0.7295:0.0	.	415;415;415	E7ENV9;E7EX88;Q6PID9	.;.;.	K	415	ENSP00000387356:E415K;ENSP00000341615:E415K	ENSP00000268134:E415K	E	+	1	0	ACAN	87189931	0.576000	0.26700	0.684000	0.30055	0.329000	0.28539	1.208000	0.32345	1.410000	0.46936	0.591000	0.81541	GAG		0.612	ACAN-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416267.2	NM_001135		21	196	0	0	0	1	0	21	196				
ZNF184	7738	broad.mit.edu	37	6	27419354	27419354	+	Nonsense_Mutation	SNP	G	G	A	rs377450857		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:27419354G>A	ENST00000211936.6	-	6	2268	c.1984C>T	c.(1984-1986)Cga>Tga	p.R662*	ZNF184_ENST00000377419.1_Nonsense_Mutation_p.R662*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	662					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTGTGAATTCGTTGATGCTGA	0.423																																						ENST00000211936.6																			0				breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						c.(1984-1986)Cga>Tga		zinc finger protein 184		G	stop/ARG	0,4406		0,0,2203	97.0	103.0	101.0		1984	2.9	0.3	6		101	1,8599		0,1,4299	no	stop-gained	ZNF184	NM_007149.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		662/752	27419354	1,13005	2203	4300	6503	SO:0001587	stop_gained	7738				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:27419354G>A	U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1984C>T	6.37:g.27419354G>A	ENSP00000211936:p.Arg662*					ZNF184_ENST00000377419.1_Nonsense_Mutation_p.R662*	p.R662*	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN			6	2268	-			662					B2R715|O60792|Q8TBA9	Nonsense_Mutation	SNP	ENST00000211936.6	37	c.1984C>T	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	G	38	6.740066	0.97805	0.0	1.16E-4	ENSG00000096654	ENST00000211936;ENST00000377419;ENST00000341087	.	.	.	4.85	2.87	0.33458	.	0.385319	0.19188	N	0.120492	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.467	0.44614	0.0:0.0:0.4853:0.5147	.	.	.	.	X	662;662;578	.	ENSP00000211936:R662X	R	-	1	2	ZNF184	27527333	0.006000	0.16342	0.276000	0.24689	0.998000	0.95712	1.414000	0.34736	1.336000	0.45506	0.591000	0.81541	CGA		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149		40	347	0	0	0	1	0	40	347				
RSPH14	27156	broad.mit.edu	37	22	23406095	23406095	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:23406095G>A	ENST00000216036.4	-	5	834	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		213										breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATTAAGGAGCGCACGGGCGGC	0.632																																						ENST00000216036.4																			0				breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18						c.(637-639)gCg>gTg		rhabdoid tumor deletion region gene 1							68.0	61.0	64.0					22																	23406095		2203	4300	6503	SO:0001583	missense	27156						binding	g.chr22:23406095G>A																												ENST00000216036.4:c.638C>T	22.37:g.23406095G>A	ENSP00000216036:p.Ala213Val						p.A213V	NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN		READ - Rectum adenocarcinoma(21;0.175)	5	834	-	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)		213						Missense_Mutation	SNP	ENST00000216036.4	37	c.638C>T	CCDS13803.1	.	.	.	.	.	.	.	.	.	.	G	5.511	0.279316	0.10458	.	.	ENSG00000100218	ENST00000216036	T	0.54279	0.58	4.71	1.43	0.22495	Armadillo-like helical (1);Armadillo-type fold (1);	1.325690	0.04962	N	0.462276	T	0.46521	0.1397	L	0.56769	1.78	0.09310	N	0.999997	B	0.29115	0.233	B	0.20384	0.029	T	0.22765	-1.0207	10	0.28530	T	0.3	-5.5588	6.8903	0.24226	0.3029:0.0:0.6971:0.0	.	213	Q9UHP6	RTDR1_HUMAN	V	213	ENSP00000216036:A213V	ENSP00000216036:A213V	A	-	2	0	RTDR1	21736095	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.081000	0.30791	0.169000	0.19679	0.555000	0.69702	GCG		0.632	RTDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319049.1			4	245	0	0	0	1	0	4	245				
KRTAP5-8	57830	broad.mit.edu	37	11	71249545	71249545	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:71249545C>T	ENST00000398534.3	+	1	475	c.444C>T	c.(442-444)tgC>tgT	p.C148C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	148	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						AGTCCAGCTGCTGTAAGCCCT	0.607																																						ENST00000398534.3																			0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(442-444)tgC>tgT		keratin associated protein 5-8							173.0	178.0	177.0					11																	71249545		2200	4294	6494	SO:0001819	synonymous_variant	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249545C>T	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.444C>T	11.37:g.71249545C>T							p.C148C	NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN			1	475	+			148			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Silent	SNP	ENST00000398534.3	37	c.444C>T	CCDS41683.1																																																																																				0.607	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	NM_021046		10	1698	0	0	0	1	0	10	1698				
CUX1	1523	broad.mit.edu	37	7	101844663	101844663	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:101844663G>A	ENST00000292535.7	+	18	2124	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A538T|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.A707T|CUX1_ENST00000550008.2_Missense_Mutation_p.A640T|CUX1_ENST00000546411.2_Missense_Mutation_p.A594T|CUX1_ENST00000549414.2_Missense_Mutation_p.A674T|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	696					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCTTCCTCCGCATCCGGCAG	0.642																																						ENST00000360264.3																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						c.(2119-2121)Gca>Aca		cut-like homeobox 1							68.0	77.0	74.0					7																	101844663		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101844663G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2086G>A	7.37:g.101844663G>A	ENSP00000292535:p.Ala696Thr					CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A538T|CUX1_ENST00000549414.2_Missense_Mutation_p.A674T|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000546411.2_Missense_Mutation_p.A594T|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.A640T|CUX1_ENST00000292535.7_Missense_Mutation_p.A696T	p.A707T	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN			18	2139	+			696					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.2119G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.548357	0.00926	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.60797	0.18;0.17;0.2;0.25;0.16;0.25	4.73	-0.261	0.12963	.	0.366176	0.27604	N	0.018632	T	0.22551	0.0544	N	0.05124	-0.11	0.23411	N	0.997737	B;B	0.10296	0.002;0.003	B;B	0.06405	0.0;0.002	T	0.15578	-1.0432	10	0.06099	T	0.92	-2.5629	1.9807	0.03426	0.2937:0.1231:0.4569:0.1264	.	696;707	P39880;P39880-3	CUX1_HUMAN;.	T	707;696;674;640;594;538	ENSP00000353401:A707T;ENSP00000292535:A696T;ENSP00000446630:A674T;ENSP00000447373:A640T;ENSP00000450125:A594T;ENSP00000451558:A538T	ENSP00000292535:A696T	A	+	1	0	CUX1	101631383	0.011000	0.17503	0.000000	0.03702	0.276000	0.26787	0.224000	0.17738	-0.251000	0.09542	-0.140000	0.14226	GCA		0.642	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		6	807	0	0	0	1	0	6	807				
KCNA6	3742	broad.mit.edu	37	12	4919470	4919470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:4919470G>A	ENST00000280684.3	+	1	1129	c.263G>A	c.(262-264)cGc>cAc	p.R88H	KCNA6_ENST00000433855.1_Missense_Mutation_p.R88H|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	88					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TTCTTCGACCGCAACCGGCCC	0.637										HNSCC(72;0.22)																												ENST00000433855.1																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						c.(262-264)cGc>cAc		potassium voltage-gated channel, shaker-related subfamily, member 6							50.0	53.0	52.0					12																	4919470		2203	4300	6503	SO:0001583	missense	3742					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr12:4919470G>A	X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.263G>A	12.37:g.4919470G>A	ENSP00000280684:p.Arg88His	HNSCC(72;0.22)				KCNA6_ENST00000280684.3_Missense_Mutation_p.R88H	p.R88H	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN			1	1129	+			88						Missense_Mutation	SNP	ENST00000280684.3	37	c.263G>A	CCDS8534.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776125	0.90195	.	.	ENSG00000151079	ENST00000433855;ENST00000280684	D;D	0.90261	-2.64;-2.64	4.45	4.45	0.53987	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	D	0.97393	0.9147	H	0.98754	4.32	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99170	1.0864	10	0.87932	D	0	.	16.2612	0.82547	0.0:0.0:1.0:0.0	.	88	P17658	KCNA6_HUMAN	H	88	ENSP00000408321:R88H;ENSP00000280684:R88H	ENSP00000280684:R88H	R	+	2	0	KCNA6	4789731	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.490000	0.97952	2.291000	0.77112	0.462000	0.41574	CGC		0.637	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398909.1	NM_002235		5	584	0	0	0	1	0	5	584				
TRPC3	7222	broad.mit.edu	37	4	122846207	122846207	+	Missense_Mutation	SNP	C	C	T	rs201312365		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:122846207C>T	ENST00000379645.3	-	3	1215	c.1142G>A	c.(1141-1143)cGt>cAt	p.R381H	TRPC3_ENST00000264811.5_Missense_Mutation_p.R308H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308H	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	296					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.R308P(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AAGTTTGACACGACTTAATGA	0.423																																						ENST00000264811.5																			1	Substitution - Missense(1)	p.R308P(1)	ovary(1)	NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(922-924)cGt>cAt		transient receptor potential cation channel, subfamily C, member 3							211.0	188.0	196.0					4																	122846207		2203	4300	6503	SO:0001583	missense	7222				axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chr4:122846207C>T	Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1142G>A	4.37:g.122846207C>T	ENSP00000368966:p.Arg381His					TRPC3_ENST00000379645.3_Missense_Mutation_p.R381H|TRPC3_ENST00000513531.1_Missense_Mutation_p.R308H	p.R308H	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN			2	1341	-			296					A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Missense_Mutation	SNP	ENST00000379645.3	37	c.923G>A	CCDS47130.1	.	.	.	.	.	.	.	.	.	.	C	36	5.670425	0.96754	.	.	ENSG00000138741	ENST00000264811;ENST00000379645;ENST00000513531	T;T;T	0.74315	-0.83;-0.83;-0.83	5.92	5.92	0.95590	.	0.075570	0.56097	D	0.000024	D	0.89643	0.6774	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	0.986;1.0;0.996	P;D;P	0.70716	0.684;0.97;0.781	D	0.90928	0.4788	10	0.87932	D	0	-16.1466	20.3081	0.98638	0.0:1.0:0.0:0.0	.	296;308;381	Q13507;E9PCJ9;Q5G1L5	TRPC3_HUMAN;.;.	H	308;381;308	ENSP00000264811:R308H;ENSP00000368966:R381H;ENSP00000426899:R308H	ENSP00000264811:R308H	R	-	2	0	TRPC3	123065657	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.755000	0.85180	2.795000	0.96236	0.655000	0.94253	CGT		0.423	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364252.1	NM_003305		96	474	0	0	0	1	0	96	474				
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000469474.1_5'UTR|NME7_ENST00000472647.1_Missense_Mutation_p.A195T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358																																						ENST00000367811.3																			1	Substitution - Missense(1)	p.A231T(1)	kidney(1)	central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16						c.(691-693)Gca>Aca		NME/NM23 family member 7							220.0	216.0	217.0					1																	169256604		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256604C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.691G>A	1.37:g.169256604C>T	ENSP00000356785:p.Ala231Thr					NME7_ENST00000472647.1_Missense_Mutation_p.A195T|NME7_ENST00000469474.1_5'UTR	p.A231T	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN			7	947	-	all_hematologic(923;0.208)		231					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.691G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330		7	1117	0	0	0	1	0	7	1117				
FMNL3	91010	broad.mit.edu	37	12	50050953	50050953	+	Missense_Mutation	SNP	C	C	T	rs202178648		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:50050953C>T	ENST00000293590.5	-	7	859	c.626G>A	c.(625-627)cGc>cAc	p.R209H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R158H|FMNL3_ENST00000335154.5_Missense_Mutation_p.R209H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R209H			Q8IVF7	FMNL3_HUMAN	formin-like 3	209	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGGGCCCTGCGCCCAGGGAG	0.582																																						ENST00000335154.5																			0				breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						c.(625-627)cGc>cAc		formin-like 3		C	HIS/ARG,HIS/ARG	0,4032		0,0,2016	80.0	81.0	81.0		626,473	5.4	1.0	12		81	2,8380		0,2,4189	yes	missense,missense	FMNL3	NM_175736.4,NM_198900.2	29,29	0,2,6205	TT,TC,CC		0.0239,0.0,0.0161	probably-damaging,probably-damaging	209/1028,158/977	50050953	2,12412	2016	4191	6207	SO:0001583	missense	91010				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr12:50050953C>T	AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.626G>A	12.37:g.50050953C>T	ENSP00000293590:p.Arg209His					FMNL3_ENST00000352151.5_Missense_Mutation_p.R158H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R209H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R209H	p.R209H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN			7	859	-			209			GBD/FH3.		B0JZA7|Q6ZRJ1	Missense_Mutation	SNP	ENST00000293590.5	37	c.626G>A		.	.	.	.	.	.	.	.	.	.	C	35	5.423799	0.96111	0.0	2.39E-4	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	D;D;D;D	0.81821	-1.51;-1.5;-1.54;-1.5	5.45	5.45	0.79879	.	0.052637	0.64402	D	0.000001	D	0.89832	0.6829	M	0.77616	2.38	0.49915	D	0.999834	D;D	0.76494	0.999;0.994	D;P	0.80764	0.994;0.754	D	0.89710	0.3911	10	0.52906	T	0.07	.	18.4343	0.90638	0.0:1.0:0.0:0.0	.	158;209	Q8IVF7-2;Q8IVF7-3	.;.	H	209;209;158;209	ENSP00000335655:R209H;ENSP00000447479:R209H;ENSP00000344311:R158H;ENSP00000293590:R209H	ENSP00000293590:R209H	R	-	2	0	FMNL3	48337220	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.865000	0.62998	2.744000	0.94065	0.561000	0.74099	CGC		0.582	FMNL3-201	KNOWN	basic	protein_coding	protein_coding		NM_175736		81	381	0	0	0	1	0	81	381				
RANGAP1	5905	broad.mit.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																						ENST00000455915.2																			1	Substitution - coding silent(1)	p.E390E(1)	kidney(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1168-1170)gaG>gaA		Ran GTPase activating protein 1							233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	5905				mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity	g.chr22:41650402C>T	X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T						RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000356244.3_Silent_p.E390E	p.E390E			P46060	RAGP1_HUMAN			10	2639	-			390			Asp/Glu-rich (highly acidic).		Q96JJ2	Silent	SNP	ENST00000455915.2	37	c.1170G>A	CCDS14012.1																																																																																				0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320606.1	NM_002883		4	284	0	0	0	1	0	4	284				
GYS2	2998	broad.mit.edu	37	12	21721886	21721886	+	Nonsense_Mutation	SNP	G	G	A	rs121918419		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:21721886G>A	ENST00000261195.2	-	5	990	c.736C>T	c.(736-738)Cga>Tga	p.R246*		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	246					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|ectoplasm (GO:0043265)	glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein homodimerization activity (GO:0042803)	p.R246*(1)		NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ACGGAAGCTCGCTCCATGCAG	0.423																																					Colon(149;9 1820 3690 10544 50424)	ENST00000261195.2																			1	Substitution - Nonsense(1)	p.R246*(1)	large_intestine(1)	NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	GRCh37	CM980965	GYS2	M	rs121918419	c.(736-738)Cga>Tga		glycogen synthase 2 (liver)							161.0	154.0	156.0					12																	21721886		2203	4300	6503	SO:0001587	stop_gained	2998				glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity	g.chr12:21721886G>A		CCDS8690.1	12p12.2-p11.2	2013-02-22			ENSG00000111713	ENSG00000111713	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4707	protein-coding gene	gene with protein product		138571					Standard	NM_021957		Approved		uc001rfb.3	P54840	OTTHUMG00000169135	ENST00000261195.2:c.736C>T	12.37:g.21721886G>A	ENSP00000261195:p.Arg246*						p.R246*	NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN			5	990	-			246					A0AVD8	Nonsense_Mutation	SNP	ENST00000261195.2	37	c.736C>T	CCDS8690.1	.	.	.	.	.	.	.	.	.	.	G	39	7.668078	0.98422	.	.	ENSG00000111713	ENST00000261195	.	.	.	5.16	4.25	0.50352	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.9125	15.0535	0.71894	0.0:0.0:0.8571:0.1429	.	.	.	.	X	246	.	ENSP00000261195:R246X	R	-	1	2	GYS2	21613153	1.000000	0.71417	0.995000	0.50966	0.995000	0.86356	3.419000	0.52728	1.363000	0.46019	0.655000	0.94253	CGA		0.423	GYS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402396.1	NM_021957		6	490	0	0	0	1	0	6	490				
POMC	5443	broad.mit.edu	37	2	25384428	25384428	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:25384428G>A	ENST00000405623.1	-	3	781	c.326C>T	c.(325-327)gCg>gTg	p.A109V	POMC_ENST00000380794.1_Missense_Mutation_p.A109V|POMC_ENST00000395826.2_Missense_Mutation_p.A109V|RP11-509E16.1_ENST00000567599.1_lincRNA|POMC_ENST00000264708.3_Missense_Mutation_p.A109V			P01189	COLI_HUMAN	proopiomelanocortin	109					cell-cell signaling (GO:0007267)|cellular pigmentation (GO:0033059)|cellular protein metabolic process (GO:0044267)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|negative regulation of tumor necrosis factor production (GO:0032720)|neuropeptide signaling pathway (GO:0007218)|peptide hormone processing (GO:0016486)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of appetite (GO:0032098)|regulation of blood pressure (GO:0008217)|regulation of corticosterone secretion (GO:2000852)|regulation of glycogen metabolic process (GO:0070873)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|peroxisomal matrix (GO:0005782)|secretory granule (GO:0030141)|secretory granule lumen (GO:0034774)	G-protein coupled receptor binding (GO:0001664)|hormone activity (GO:0005179)|receptor binding (GO:0005102)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Loperamide(DB00836)	GTCTTCGCCCGCTGAGACGTC	0.721																																					Colon(110;1515 1566 8452 10082 43216)	ENST00000405623.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(325-327)gCg>gTg		proopiomelanocortin	Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)						5.0	6.0	6.0					2																	25384428		2048	3950	5998	SO:0001583	missense	5443				cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding	g.chr2:25384428G>A		CCDS1717.1	2p23	2013-02-25	2008-07-31		ENSG00000115138	ENSG00000115138		"""Endogenous ligands"""	9201	protein-coding gene	gene with protein product	"""adrenocorticotropin"", ""beta-lipotropin"", ""alpha-melanocyte stimulating hormone"", ""beta-melanocyte stimulating hormone"", ""beta-endorphin"", ""adrenocorticotropic hormone"", ""opiomelanocortin prepropeptide"""	176830				6254047, 9620771	Standard	NM_001035256		Approved	MSH, POC, CLIP, ACTH, NPP, LPH	uc002rfz.1	P01189	OTTHUMG00000094764	ENST00000405623.1:c.326C>T	2.37:g.25384428G>A	ENSP00000384092:p.Ala109Val					POMC_ENST00000380794.1_Missense_Mutation_p.A109V|POMC_ENST00000395826.2_Missense_Mutation_p.A109V|POMC_ENST00000264708.3_Missense_Mutation_p.A109V	p.A109V			P01189	COLI_HUMAN			3	781	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		109					P78442|Q53T23|Q9UD39|Q9UD40	Missense_Mutation	SNP	ENST00000405623.1	37	c.326C>T	CCDS1717.1	.	.	.	.	.	.	.	.	.	.	G	6.712	0.500039	0.12762	.	.	ENSG00000115138	ENST00000380794;ENST00000405623;ENST00000264708;ENST00000395826;ENST00000449220	T;T;T;T;T	0.79554	-1.27;-1.27;-1.27;-1.27;-1.28	4.67	-2.23	0.06930	.	0.794205	0.10616	N	0.653875	T	0.50633	0.1627	N	0.03050	-0.425	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.37361	-0.9709	10	0.39692	T	0.17	-10.6454	1.6553	0.02780	0.3084:0.2269:0.3493:0.1154	.	109	P01189	COLI_HUMAN	V	109	ENSP00000370171:A109V;ENSP00000384092:A109V;ENSP00000264708:A109V;ENSP00000379170:A109V;ENSP00000387993:A109V	ENSP00000264708:A109V	A	-	2	0	POMC	25237932	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.224000	0.17738	-0.089000	0.12484	0.462000	0.41574	GCG		0.721	POMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211573.3	NM_001035256		9	50	0	0	0	1	0	9	50				
INS-IGF2	723961	broad.mit.edu	37	11	2182109	2182109	+	Silent	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:2182109G>A	ENST00000397270.1	-	2	151	c.93C>T	c.(91-93)tgC>tgT	p.C31C	INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C|INS-IGF2_ENST00000481781.1_5'Flank|INS_ENST00000381330.4_Silent_p.C31C	NM_001042376.2	NP_001035835.1	F8WCM5	INSR2_HUMAN	INS-IGF2 readthrough	31						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		GGTGTGAGCCGCACAGGTGTT	0.652																																						ENST00000397270.1																			0				haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5						c.(91-93)tgC>tgT									52.0	52.0	52.0					11																	2182109		2200	4299	6499	SO:0001819	synonymous_variant	0				glucose metabolic process	extracellular region	hormone activity	g.chr11:2182109G>A	DQ104205	CCDS41598.1	11p15.5	2011-03-23			ENSG00000129965	ENSG00000129965			33527	other	readthrough						16531418	Standard	NM_001042376		Approved		uc001lvm.3	F8WCM5	OTTHUMG00000166213	ENST00000397270.1:c.93C>T	11.37:g.2182109G>A						INS_ENST00000381330.4_Silent_p.C31C|INS_ENST00000397262.1_Silent_p.C31C|INS_ENST00000512523.1_Silent_p.C31C|INS_ENST00000250971.3_Silent_p.C31C	p.C31C	NM_001042376.2	NP_001035835.1	Q1WM24	Q1WM24_HUMAN	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)	2	151	-		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	31					Q1WM24	Silent	SNP	ENST00000397270.1	37	c.93C>T	CCDS41598.1																																																																																				0.652	INS-IGF2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000388404.1	NM_001042376.2		5	374	0	0	0	1	0	5	374				
CYP2F1	1572	broad.mit.edu	37	19	41633864	41633864	+	Silent	SNP	C	C	T	rs538039196	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:41633864C>T	ENST00000331105.2	+	10	1425	c.1353C>T	c.(1351-1353)acC>acT	p.T451T		NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN	cytochrome P450, family 2, subfamily F, polypeptide 1	451					naphthalene metabolic process (GO:0018931)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|trichloroethylene metabolic process (GO:0018979)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|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, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						TGTACCTCACCGCCATCCTGC	0.647													c|||	3	0.000599042	0.0008	0.0	5008	,	,		16694	0.0		0.001	False		,,,				2504	0.001					ENST00000331105.2																			0				central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						c.(1351-1353)acC>acT		cytochrome P450, family 2, subfamily F, polypeptide 1							15.0	17.0	16.0					19																	41633864		2198	4286	6484	SO:0001819	synonymous_variant	1572				naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41633864C>T	J02906	CCDS12572.1	19q13.1-q13.2	2008-02-05	2003-01-14		ENSG00000197446	ENSG00000197446		"""Cytochrome P450s"""	2632	protein-coding gene	gene with protein product		124070	"""cytochrome P450, subfamily IIF, polypeptide 1"""	CYP2F			Standard	NM_000774		Approved		uc002opu.1	P24903	OTTHUMG00000167412	ENST00000331105.2:c.1353C>T	19.37:g.41633864C>T							p.T451T	NM_000774.3	NP_000765.2	P24903	CP2F1_HUMAN			10	1425	+			451					A7KAU6|A7KAU7|A7KAU8|A7KAU9|A7KAV0|Q32MN5|Q8WWJ2	Silent	SNP	ENST00000331105.2	37	c.1353C>T	CCDS12572.1																																																																																				0.647	CYP2F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394527.2			4	188	0	0	0	1	0	4	188				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		5	258	0	0	0	1	0	5	258				
CACNA1C	775	broad.mit.edu	37	12	2797686	2797686	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2797686C>T	ENST00000347598.4	+	48	6002	c.6002C>T	c.(6001-6003)gCc>gTc	p.A2001V	CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1953V|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1994V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1973V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1981V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1988V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1978V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1970V|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1959V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1953V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2024V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2036					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)			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)	AGGCCTTTTGCCACCCCACCA	0.642																																						ENST00000399655.1																			0				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						c.(5857-5859)gCc>gTc		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						45.0	53.0	51.0					12																	2797686		1943	4134	6077	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.chr12:2797686C>T	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.6002C>T	12.37:g.2797686C>T	ENSP00000266376:p.Ala2001Val					CACNA1C_ENST00000399621.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.A2024V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.A1988V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.A1994V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.A1988V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.A1973V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.A1961V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.A2001V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.A1981V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.A1959V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.A1972V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.A1953V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.A1970V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.A2024V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.A1978V	p.A1953V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6123	+			2036					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.5858C>T	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273195	0.40194	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.58060	0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36;0.36	4.86	3.97	0.46021	.	1.113020	0.06702	N	0.771686	T	0.53658	0.1810	M	0.62723	1.935	0.26184	N	0.979682	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21520	0.011;0.057;0.01;0.017;0.057;0.026;0.012;0.015;0.007;0.026;0.026;0.01;0.01;0.015;0.006;0.009;0.01;0.008;0.026;0.008;0.012;0.015;0.026;0.01;0.01	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.26310	0.037;0.068;0.011;0.027;0.068;0.068;0.024;0.068;0.038;0.024;0.036;0.017;0.033;0.068;0.005;0.031;0.033;0.019;0.036;0.032;0.016;0.036;0.036;0.017;0.011	T	0.47129	-0.9141	10	0.44086	T	0.13	.	9.6655	0.39981	0.0:0.7805:0.1415:0.078	.	644;1994;1950;2036;1988;1972;1953;1970;1981;1953;1973;1953;1984;2001;1953;1988;2024;1961;1959;1961;1942;1972;1972;1953;1953	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;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	1978;1953;1953;1981;1953;1972;1972;1961;1953;2001;1973;1953;1994;1970;1988;1959;1972;1953;2024;1988;2024;1961;1854	ENSP00000336982:A1978V;ENSP00000382563:A1953V;ENSP00000382552:A1953V;ENSP00000382547:A1981V;ENSP00000382506:A1953V;ENSP00000382530:A1972V;ENSP00000382546:A1972V;ENSP00000382500:A1961V;ENSP00000382549:A1953V;ENSP00000266376:A2001V;ENSP00000382515:A1973V;ENSP00000382510:A1953V;ENSP00000341092:A1994V;ENSP00000382537:A1970V;ENSP00000329877:A1988V;ENSP00000382557:A1959V;ENSP00000385724:A1972V;ENSP00000382512:A1953V;ENSP00000382542:A2024V;ENSP00000382526:A1988V;ENSP00000385896:A2024V;ENSP00000382504:A1961V	ENSP00000323129:A1854V	A	+	2	0	CACNA1C	2667947	1.000000	0.71417	0.629000	0.29254	0.517000	0.34286	4.439000	0.59968	1.051000	0.40369	0.462000	0.41574	GCC		0.642	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		7	662	0	0	0	1	0	7	662				
PDZRN3	23024	broad.mit.edu	37	3	73434878	73434878	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:73434878T>C	ENST00000263666.4	-	9	1691	c.1577A>G	c.(1576-1578)gAc>gGc	p.D526G	PDZRN3_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D243G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	526					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CTCCAGCATGTCCATGTGCAG	0.567																																						ENST00000263666.4																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69						c.(1576-1578)gAc>gGc		PDZ domain containing ring finger 3							209.0	159.0	176.0					3																	73434878		2203	4300	6503	SO:0001583	missense	23024						ubiquitin-protein ligase activity|zinc ion binding	g.chr3:73434878T>C	AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.1577A>G	3.37:g.73434878T>C	ENSP00000263666:p.Asp526Gly					PDZRN3_ENST00000466348.1_5'UTR|PDZRN3_ENST00000462146.2_Missense_Mutation_p.D183G|PDZRN3_ENST00000466780.1_Missense_Mutation_p.D183G|PDZRN3_ENST00000535920.1_Missense_Mutation_p.D248G|PDZRN3_ENST00000479530.1_Missense_Mutation_p.D243G	p.D526G	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)	9	1691	-		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)	526					A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	ENST00000263666.4	37	c.1577A>G	CCDS33789.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	18.35|18.35	3.603678|3.603678	0.66445|0.66445	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530;ENST00000416926;ENST00000492909|ENST00000494559	T;T;T;T;T;T|.	0.10477|.	2.87;3.59;3.48;3.48;3.59;3.58|.	5.58|5.58	5.58|5.58	0.84498|0.84498	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70029|0.70029	0.3177|0.3177	L|L	0.56769|0.56769	1.78|1.78	0.80722|0.80722	D|D	1|1	B;D;B;D|.	0.89917|.	0.004;1.0;0.005;0.999|.	B;D;B;D|.	0.87578|.	0.02;0.998;0.013;0.995|.	T|T	0.68625|0.68625	-0.5359|-0.5359	10|5	0.32370|.	T|.	0.25|.	.|.	15.4073|15.4073	0.74890|0.74890	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	248;243;243;526|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	G|A	526;248;183;183;243;526;224|123	ENSP00000263666:D526G;ENSP00000442026:D248G;ENSP00000418168:D183G;ENSP00000418484:D183G;ENSP00000418624:D243G;ENSP00000419250:D224G|.	ENSP00000263666:D526G|.	D|T	-|-	2|1	0|0	PDZRN3|PDZRN3	73517568|73517568	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.852000|7.852000	0.86927|0.86927	2.117000|2.117000	0.64856|0.64856	0.533000|0.533000	0.62120|0.62120	GAC|ACA		0.567	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352460.1	XM_041363		34	436	0	0	0	1	0	34	436				
CNOT2	4848	broad.mit.edu	37	12	70732321	70732321	+	Silent	SNP	A	A	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:70732321A>G	ENST00000418359.3	+	11	1450	c.999A>G	c.(997-999)aaA>aaG	p.K333K	CNOT2_ENST00000229195.3_Silent_p.K333K|CNOT2_ENST00000551483.1_5'UTR	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	333					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			AGCAGAAAAAAGGGATCCAGG	0.323																																						ENST00000229195.3																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20						c.(997-999)aaA>aaG		CCR4-NOT transcription complex, subunit 2							87.0	90.0	89.0					12																	70732321		2203	4300	6503	SO:0001819	synonymous_variant	4848				nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity	g.chr12:70732321A>G	AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.999A>G	12.37:g.70732321A>G						CNOT2_ENST00000551483.1_5'UTR|CNOT2_ENST00000418359.3_Silent_p.K333K	p.K333K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)		10	1578	+	Renal(347;0.236)		333					Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Silent	SNP	ENST00000418359.3	37	c.999A>G	CCDS31857.1	.	.	.	.	.	.	.	.	.	.	A	5.067	0.198090	0.09652	.	.	ENSG00000111596	ENST00000552599	.	.	.	5.71	-0.549	0.11829	.	.	.	.	.	T	0.55955	0.1953	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50268	-0.8848	4	.	.	.	-7.611	9.9087	0.41392	0.6553:0.0:0.3447:0.0	.	.	.	.	G	44	.	.	R	+	1	2	CNOT2	69018588	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	2.180000	0.42537	-0.100000	0.12241	-0.376000	0.06991	AGG		0.323	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404260.1			4	439	0	0	0	1	0	4	439				
GRIK5	2901	broad.mit.edu	37	19	42546729	42546729	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:42546729C>T	ENST00000262895.3	-	11	1447	c.1448G>A	c.(1447-1449)gGc>gAc	p.G483D	GRIK5_ENST00000301218.4_Missense_Mutation_p.G483D|GRIK5_ENST00000593562.1_Missense_Mutation_p.G483D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	483					cellular response to glucose stimulus (GO:0071333)|establishment of localization in cell (GO:0051649)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|positive regulation of neuron apoptotic process (GO:0043525)|protein retention in ER lumen (GO:0006621)|receptor clustering (GO:0043113)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic vesicle fusion to presynaptic membrane (GO:0031630)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)				GCCAACCATGCCCGTCCAGGA	0.697																																						ENST00000262895.3																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35						c.(1447-1449)gGc>gAc		glutamate receptor, ionotropic, kainate 5	L-Glutamic Acid(DB00142)						44.0	49.0	47.0					19																	42546729		2202	4297	6499	SO:0001583	missense	2901					cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr19:42546729C>T		CCDS12595.1	19q13.2	2012-08-29			ENSG00000105737	ENSG00000105737		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4583	protein-coding gene	gene with protein product		600283		GRIK2		7527545	Standard	NM_002088		Approved	GluK5, KA2	uc002osj.2	Q16478	OTTHUMG00000044573	ENST00000262895.3:c.1448G>A	19.37:g.42546729C>T	ENSP00000262895:p.Gly483Asp					GRIK5_ENST00000301218.4_Missense_Mutation_p.G483D|GRIK5_ENST00000593562.1_Missense_Mutation_p.G483D	p.G483D	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN			11	1447	-		Prostate(69;0.059)	483					Q8WWG8	Missense_Mutation	SNP	ENST00000262895.3	37	c.1448G>A	CCDS12595.1	.	.	.	.	.	.	.	.	.	.	C	36	5.610721	0.96637	.	.	ENSG00000105737	ENST00000262895;ENST00000301218	D;D	0.95949	-3.86;-3.86	6.17	6.17	0.99709	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	H	0.97390	3.995	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99107	1.0845	10	0.87932	D	0	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	483	Q16478	GRIK5_HUMAN	D	483	ENSP00000262895:G483D;ENSP00000301218:G483D	ENSP00000262895:G483D	G	-	2	0	GRIK5	47238569	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.699000	0.84547	2.941000	0.99782	0.655000	0.94253	GGC		0.697	GRIK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463453.1			6	593	0	0	0	1	0	6	593				
CYP2C9	1559	broad.mit.edu	37	10	96748637	96748637	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:96748637G>A	ENST00000260682.6	+	9	1337	c.1325G>A	c.(1324-1326)gGc>gAc	p.G442D		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	442					arachidonic acid metabolic process (GO:0019369)|cellular amide metabolic process (GO:0043603)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|urea metabolic process (GO:0019627)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|caffeine oxidase activity (GO:0034875)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|steroid hydroxylase activity (GO:0008395)			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Agomelatine(DB06594)|Alosetron(DB00969)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Atovaquone(DB01117)|Azelastine(DB00972)|Bexarotene(DB00307)|Bicalutamide(DB01128)|Bortezomib(DB00188)|Bosentan(DB00559)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabozantinib(DB08875)|Caffeine(DB00201)|Candesartan(DB00796)|Capecitabine(DB01101)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Celecoxib(DB00482)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Clevidipine(DB04920)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclizine(DB01176)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diclofenamide(DB01144)|Dicoumarol(DB00266)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disulfiram(DB00822)|Dolasetron(DB00757)|Donepezil(DB00843)|Dopamine(DB00988)|Dorzolamide(DB00869)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enzalutamide(DB08899)|Epinephrine(DB00668)|Epoprostenol(DB01240)|Eprosartan(DB00876)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Eszopiclone(DB00402)|Ethanol(DB00898)|Etodolac(DB00749)|Etoricoxib(DB01628)|Etravirine(DB06414)|Felodipine(DB01023)|Fenofibrate(DB01039)|Flecainide(DB01195)|Fluconazole(DB00196)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Halothane(DB01159)|Hexobarbital(DB01355)|Histamine Phosphate(DB00667)|Human Serum Albumin(DB00062)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Idarubicin(DB01177)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indinavir(DB00224)|Indomethacin(DB00328)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Lidocaine(DB00281)|Lopinavir(DB01601)|Loratadine(DB00455)|Lornoxicam(DB06725)|Losartan(DB00678)|Lovastatin(DB00227)|Lumiracoxib(DB01283)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Melatonin(DB01065)|Meloxicam(DB00814)|Mestranol(DB01357)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Metronidazole(DB00916)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Montelukast(DB00471)|Naproxen(DB00788)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Ospemifene(DB04938)|Oxaprozin(DB00991)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Paroxetine(DB00715)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phentermine(DB00191)|Phenylbutazone(DB00812)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Prasugrel(DB06209)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quazepam(DB01589)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfadiazine(DB00359)|Sulfadimethoxine(DB06150)|Sulfamethizole(DB00576)|Sulfamethoxazole(DB01015)|Sulfamoxole(DB08798)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Sulfapyridine(DB00891)|Sulfinpyrazone(DB01138)|Sulfisoxazole(DB00263)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Temazepam(DB00231)|Teniposide(DB00444)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Theophylline(DB00277)|Thiamylal(DB01154)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Tolcapone(DB00323)|Tolterodine(DB01036)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Treprostinil(DB00374)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Valsartan(DB00177)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Ximelagatran(DB04898)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Zidovudine(DB00495)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	GCCCTGGCCGGCATGGAGCTG	0.453																																					Ovarian(54;1266 1406 16072 35076)	ENST00000260682.6																			0				breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1324-1326)gGc>gAc		cytochrome P450, family 2, subfamily C, polypeptide 9	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)						156.0	145.0	149.0					10																	96748637		2203	4300	6503	SO:0001583	missense	1559				exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96748637G>A	M61855	CCDS7437.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138109	ENSG00000138109		"""Cytochrome P450s"""	2623	protein-coding gene	gene with protein product		601130	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 9"""	CYP2C10		2009263, 7841444	Standard	NM_000771		Approved	P450IIC9	uc001kka.4	P11712	OTTHUMG00000018805	ENST00000260682.6:c.1325G>A	10.37:g.96748637G>A	ENSP00000260682:p.Gly442Asp						p.G442D	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN		all cancers(201;6.93e-05)	9	1337	+		Colorectal(252;0.0902)	442					P11713|Q16756|Q16872|Q5VX92|Q6IRV8|Q8WW80	Missense_Mutation	SNP	ENST00000260682.6	37	c.1325G>A	CCDS7437.1	.	.	.	.	.	.	.	.	.	.	.	9.583	1.123983	0.20959	.	.	ENSG00000138109	ENST00000260682	T	0.67865	-0.29	3.41	2.47	0.30058	.	0.000000	0.64402	U	0.000002	T	0.41903	0.1179	N	0.04508	-0.205	0.23425	N	0.997706	B;B	0.17465	0.022;0.022	B;B	0.14578	0.011;0.011	T	0.42932	-0.9422	10	0.87932	D	0	.	9.6892	0.40118	0.0:0.0:0.7903:0.2097	.	442;442	Q5VX92;P11712	.;CP2C9_HUMAN	D	442	ENSP00000260682:G442D	ENSP00000260682:G442D	G	+	2	0	CYP2C9	96738627	1.000000	0.71417	0.996000	0.52242	0.064000	0.16182	6.266000	0.72540	0.741000	0.32674	0.446000	0.29264	GGC		0.453	CYP2C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049501.1	NM_000771		6	677	0	0	0	1	0	6	677				
FRG1B	284802	broad.mit.edu	37	20	29628320	29628320	+	Nonsense_Mutation	SNP	G	G	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:29628320G>T	ENST00000278882.3	+	6	702	c.322G>T	c.(322-324)Gaa>Taa	p.E108*	FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*|FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	108										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(322-324)Gaa>Taa																																						SO:0001587	stop_gained	0							g.chr20:29628320G>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.322G>T	20.37:g.29628320G>T	ENSP00000278882:p.Glu108*					FRG1B_ENST00000439954.2_Nonsense_Mutation_p.E113*|FRG1B_ENST00000358464.4_Nonsense_Mutation_p.E108*	p.E108*							6	702	+								C4AME5	Nonsense_Mutation	SNP	ENST00000278882.3	37	c.322G>T		.	.	.	.	.	.	.	.	.	.	g	21.0	4.076413	0.76415	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	.	.	.	2.08	2.08	0.27032	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	.	.	.	X	108;113;108	.	ENSP00000278882:E108X	E	+	1	0	FRG1B	28241981	1.000000	0.71417	1.000000	0.80357	0.425000	0.31504	6.601000	0.74136	1.475000	0.48197	0.423000	0.28283	GAA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	324	1	0	5.16669e-11	1	5.32266e-11	6	324				
DNAJC11	55735	broad.mit.edu	37	1	6727803	6727804	+	Frame_Shift_Del	DEL	TC	TC	-	rs374290353		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:6727803_6727804delTC	ENST00000377577.5	-	4	466_467	c.343_344delGA	c.(343-345)gaafs	p.E116fs	DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	116						extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTCTCTTCTCTCTCTCTC	0.505																																						ENST00000377577.5																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32						c.(343-345)afs		DnaJ (Hsp40) homolog, subfamily C, member 11																																				SO:0001589	frameshift_variant	55735				protein folding		heat shock protein binding|unfolded protein binding	g.chr1:6727803_6727804delTC	AF306695	CCDS87.1	1p36.23	2011-09-02			ENSG00000007923	ENSG00000007923		"""Heat shock proteins / DNAJ (HSP40)"""	25570	protein-coding gene	gene with protein product		614827				12964007	Standard	NM_018198		Approved	FLJ10737	uc001aof.2	Q9NVH1	OTTHUMG00000001443	ENST00000377577.5:c.343_344delGA	1.37:g.6727813_6727814delTC	ENSP00000366800:p.Glu116fs					DNAJC11_ENST00000294401.7_Frame_Shift_Del_p.E116fs|DNAJC11_ENST00000377573.5_Frame_Shift_Del_p.E26fs|DNAJC11_ENST00000349363.6_Frame_Shift_Del_p.E78fs|DNAJC11_ENST00000542246.1_Frame_Shift_Del_p.E78fs	p.E116fs	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)	4	466_467	-	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)	116					Q4VWF5|Q5VZN0|Q6PK20|Q6PK70|Q8NDM2|Q96CL7	Frame_Shift_Del	DEL	ENST00000377577.5	37	c.343_344delGA	CCDS87.1																																																																																				0.505	DNAJC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004216.3	NM_018198		10	251						10	251	---	---	---	---
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		8	874						8	874	---	---	---	---
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	GCG	-	rs549143666|rs377569778	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:44071946_44071948delGCG	ENST00000359947.4	+	20	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372413.3_In_Frame_Del_p.R1169del|PTPRF_ENST00000422171.2_In_Frame_Del_p.R526del|PTPRF_ENST00000438120.1_In_Frame_Del_p.R1169del|PTPRF_ENST00000372414.3_In_Frame_Del_p.R1178del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1178					cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631																																						ENST00000359947.4																			0				NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72						c.(3517-3522)cag>ca		protein tyrosine phosphatase, receptor type, F																																				SO:0001651	inframe_deletion	5792				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr1:44071946_44071948delGCG	Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.3519_3521delGCG	1.37:g.44071955_44071957delGCG	ENSP00000353030:p.Arg1178del					PTPRF_ENST00000438120.1_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372413.3_In_Frame_Del_p.QR1164del|PTPRF_ENST00000372414.3_In_Frame_Del_p.QR1173del|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_In_Frame_Del_p.QR521del	p.QR1173del	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN			20	3859_3861	+	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)	1173					D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	In_Frame_Del	DEL	ENST00000359947.4	37	c.3519_3521delGCG	CCDS489.2																																																																																				0.631	PTPRF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000019710.1			8	610						8	610	---	---	---	---
LOC101927209	101927209	broad.mit.edu	37	1	142713977	142713977	+	lincRNA	DEL	T	T	-	rs140223576		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:142713977delT	ENST00000610091.1	-	0	1681																											ATCCATATACTAAAAAGGTTA	0.294																																						ENST00000369381.2																			0																																																			0							g.chr1:142713977delT																													1.37:g.142713977delT														0	628	-									RNA	DEL	ENST00000610091.1	37																																																																																						0.294	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			12	61						12	61	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144043905	144043906	+	RNA	INS	-	-	G	rs368205479|rs371276355		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:144043905_144043906insG	ENST00000467933.1	+	0	1108							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												tcgctcacgctggagctgtaga	0.535																																						ENST00000467933.1																			0																																																			0							g.chr1:144043905_144043906insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144043907_144043907dupG														0	1108	+									RNA	INS	ENST00000467933.1	37																																																																																						0.535	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		12	94						12	94	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152128709	152128712	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:152128709_152128712delTGTC	ENST00000316073.3	-	3	927_930	c.863_866delGACA	c.(862-867)agacaafs	p.RQ288fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	288	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.49																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(862-867)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128709_152128712delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.863_866delGACA	1.37:g.152128717_152128720delTGTC	ENSP00000317895:p.Arg288fs						p.RQ288fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	927_930	-			288			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.863_866delGACA	CCDS41397.1																																																																																				0.490	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		8	1625						8	1625	---	---	---	---
SLC27A3	11000	broad.mit.edu	37	1	153751860	153751860	+	Frame_Shift_Del	DEL	C	C	-	rs572408453	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:153751860delC	ENST00000368661.3	+	9	1992	c.1927delC	c.(1927-1929)cccfs	p.P644fs	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000271857.2_Frame_Shift_Del_p.P725fs	NM_024330.1	NP_077306.1	Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	644					fatty acid metabolic process (GO:0006631)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA synthase activity (GO:0004321)|ligase activity (GO:0016874)|nucleotide binding (GO:0000166)			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGTTCTGCGTCCCCCCCACGC	0.617													|||unknown(LONG_INSERTION)	4	0.000798722	0.0	0.0043	5008	,	,		17653	0.001		0.0	False		,,,				2504	0.0					ENST00000271857.2																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						c.(2170-2172)ccfs		solute carrier family 27 (fatty acid transporter), member 3				8,16,4240		0,0,8,7,2,2115	121.0	105.0	111.0			-6.0	1.0	1		111	5,23,8226		0,0,5,10,3,4109	no	codingComplex	SLC27A3	NM_024330.1		0,0,13,17,5,6224	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3392,0.5629,0.4154			153751860	13,39,12466	2203	4300	6503	SO:0001589	frameshift_variant	11000				fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding	g.chr1:153751860delC	BC009916	CCDS1053.1	1q21.1	2013-05-22			ENSG00000143554	ENSG00000143554		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10997	protein-coding gene	gene with protein product		604193				9671728	Standard	NM_024330		Approved	FATP3, MGC4365, ACSVL3	uc001fcz.3	Q5K4L6	OTTHUMG00000037155	ENST00000368661.3:c.1927delC	1.37:g.153751860delC	ENSP00000357650:p.Pro644fs					SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.P644fs|SLC27A3_ENST00000484014.1_3'UTR	p.P725fs			Q5K4L6	S27A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		9	2930	+	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		644					Q5VUQ7|Q5VUQ8|Q5VUR3|Q6ZV16|Q8N2X7|Q8TEJ0|Q96SW5|Q9BTJ5|Q9BTY5	Frame_Shift_Del	DEL	ENST00000368661.3	37	c.2170delC	CCDS1053.1																																																																																				0.617	SLC27A3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_024330		7	735						7	735	---	---	---	---
ISG20L2	81875	broad.mit.edu	37	1	156694023	156694023	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:156694023delG	ENST00000313146.6	-	2	1647	c.865delC	c.(865-867)ctcfs	p.L289fs	ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.2_5'UTR	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN	interferon stimulated exonuclease gene 20kDa-like 2	289	Exonuclease.				ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)	exonuclease activity (GO:0004527)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TTCCGGTTGAGGGGGGGGATA	0.557																																						ENST00000313146.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16						c.(865-867)tcfs		interferon stimulated exonuclease gene 20kDa-like 2							82.0	86.0	85.0					1																	156694023		2203	4300	6503	SO:0001589	frameshift_variant	81875				ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding	g.chr1:156694023delG	AK095697	CCDS1153.1	1q23.1	2013-10-11			ENSG00000143319	ENSG00000143319			25745	protein-coding gene	gene with protein product		611930				18065403	Standard	NM_030980		Approved	FLJ12671	uc001fps.1	Q9H9L3	OTTHUMG00000041301	ENST00000313146.6:c.865delC	1.37:g.156694023delG	ENSP00000323424:p.Leu289fs					ISG20L2_ENST00000368219.1_Frame_Shift_Del_p.L289fs|ISG20L2_ENST00000472824.1_5'UTR	p.L289fs	NM_030980.1	NP_112242.1	Q9H9L3	I20L2_HUMAN			2	1647	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		289			Exonuclease.		D3DVC6|Q64KA2	Frame_Shift_Del	DEL	ENST00000313146.6	37	c.865delC	CCDS1153.1																																																																																				0.557	ISG20L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098969.1	NM_030980		7	684						7	684	---	---	---	---
SLAMF1	6504	broad.mit.edu	37	1	160589601	160589601	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:160589601delT	ENST00000302035.6	-	5	1178	c.829delA	c.(829-831)agcfs	p.S277fs	SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron|SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	277					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)			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)			ATCGTAAGGCTTTTTTTTTCC	0.433																																						ENST00000302035.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(829-831)gcfs		signaling lymphocytic activation molecule family member 1							265.0	264.0	264.0					1																	160589601		2203	4300	6503	SO:0001589	frameshift_variant	6504				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity	g.chr1:160589601delT	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.829delA	1.37:g.160589601delT	ENSP00000306190:p.Ser277fs					SLAMF1_ENST00000235739.5_Frame_Shift_Del_p.S247fs|SLAMF1_ENST00000355199.3_Frame_Shift_Del_p.S277fs|SLAMF1_ENST00000538290.1_Intron	p.S277fs	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		5	1178	-	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		277					Q5W172|Q9HBE8	Frame_Shift_Del	DEL	ENST00000302035.6	37	c.829delA	CCDS1207.1																																																																																				0.433	SLAMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060454.1			30	1005						30	1005	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2236-2241)tcc>t		POU class 2 homeobox 1																																				SO:0001651	inframe_deletion	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385016_167385018delCCA	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2201_2203delCCA	1.37:g.167385025_167385027delCCA	ENSP00000441285:p.Thr738del					POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del	p.ST746del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2472_2474	+			734					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	In_Frame_Del	DEL	ENST00000541643.3	37	c.2237_2239delCCA																																																																																					0.601	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		11	1189						11	1189	---	---	---	---
RASAL2	9462	broad.mit.edu	37	1	178412040	178412041	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:178412040_178412041insA	ENST00000462775.1	+	6	839_840	c.714_715insA	c.(715-717)aaafs	p.K239fs	RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.K387fs|RASAL2_ENST00000448150.3_Frame_Shift_Ins_p.K369fs	NM_004841.3	NP_004832.1	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	239	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	Ras GTPase activator activity (GO:0005099)			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGGAAAAAAAGAAAAAAAAGGA	0.406																																						ENST00000448150.3																			0				biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1107)aaaaaafs		RAS protein activator like 2																																				SO:0001589	frameshift_variant	9462				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	g.chr1:178412040_178412041insA	AF047711	CCDS1321.1, CCDS1322.1, CCDS1321.2	1q25	2013-01-10			ENSG00000075391	ENSG00000075391		"""Pleckstrin homology (PH) domain containing"""	9874	protein-coding gene	gene with protein product	"""Ras GTPase activating protein-like"", ""Ras protein activator like 1"""	606136				9877179	Standard	NM_004841		Approved	nGAP	uc001glq.3	Q9UJF2	OTTHUMG00000035022	ENST00000462775.1:c.722dupA	1.37:g.178412048_178412048dupA	ENSP00000420558:p.Lys239fs					RASAL2_ENST00000462775.1_Frame_Shift_Ins_p.KK238fs|RASAL2_ENST00000367649.3_Frame_Shift_Ins_p.KK386fs	p.KK368fs	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN			8	1922_1923	+			238			Ras-GAP.		F8W755|O95174|Q2TB22|Q5TFU9	Frame_Shift_Ins	INS	ENST00000462775.1	37	c.1104_1105insA	CCDS1322.1																																																																																				0.406	RASAL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000084758.3	NM_170692		7	539						7	539	---	---	---	---
IPO9	55705	broad.mit.edu	37	1	201843998	201844000	+	In_Frame_Del	DEL	GAG	GAG	-	rs543977738		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:201843998_201844000delGAG	ENST00000361565.4	+	22	2941_2943	c.2872_2874delGAG	c.(2872-2874)gagdel	p.E962del		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	962					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone binding (GO:0042393)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ggaggaggaagaggaggaggagg	0.443																																						ENST00000361565.4																			0				cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(2872-2874)del		importin 9				1,4265		0,1,2132						-9.5	0.1			127	2,8252		0,2,4125	no	coding	IPO9	NM_018085.4		0,3,6257	A1A1,A1R,RR		0.0242,0.0234,0.024				3,12517				SO:0001651	inframe_deletion	55705				protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity	g.chr1:201843998_201844000delGAG	AF410465	CCDS1415.1	1q31.3	2008-02-05			ENSG00000198700	ENSG00000198700		"""Importins"""	19425	protein-coding gene	gene with protein product						11823430, 10574461	Standard	NM_018085		Approved	Imp9, FLJ10402	uc001gwz.3	Q96P70	OTTHUMG00000035805	ENST00000361565.4:c.2872_2874delGAG	1.37:g.201844007_201844009delGAG	ENSP00000354742:p.Glu962del						p.E962del	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN			22	2941_2943	+			962					B1ASV5|Q8N1Y1|Q8N3I2|Q8NCG9|Q96SU6|Q9NW01|Q9P0A8|Q9ULM8	In_Frame_Del	DEL	ENST00000361565.4	37	c.2872_2874delGAG	CCDS1415.1																																																																																				0.443	IPO9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087088.1	NM_018085		9	613						9	613	---	---	---	---
GPR37L1	9283	broad.mit.edu	37	1	202097525	202097527	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr1:202097525_202097527delCTG	ENST00000367282.5	+	2	1393_1395	c.1287_1289delCTG	c.(1285-1290)gactgc>gac	p.C436del		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1	436	Cys-rich.				negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CCTTCCTGGActgctgctgctgc	0.626																																						ENST00000367282.4																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						c.(1285-1290)gac>ga		G protein-coupled receptor 37 like 1				2,128,4136		0,0,2,9,110,2012						3.1	1.0			46	5,240,8007		0,0,5,10,220,3891	no	codingComplex	GPR37L1	NM_004767.3		0,0,7,19,330,5903	A1A1,A1A2,A1R,A2A2,A2R,RR		2.969,3.0474,2.9957				7,368,12143				SO:0001651	inframe_deletion	9283					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr1:202097525_202097527delCTG	AJ310210	CCDS1420.1	1q32	2012-08-21	2006-02-15		ENSG00000170075	ENSG00000170075		"""GPCR / Class A : Orphans"""	14923	protein-coding gene	gene with protein product						9539149	Standard	NM_004767		Approved	ETBR-LP-2	uc001gxj.3	O60883	OTTHUMG00000035924	ENST00000367282.5:c.1287_1289delCTG	1.37:g.202097534_202097536delCTG	ENSP00000356251:p.Cys436del						p.DC429del	NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN			2	1393_1395	+			429			Cys-rich.		B2R7M9|Q5SXP7|Q86VP7	In_Frame_Del	DEL	ENST00000367282.5	37	c.1287_1289delCTG	CCDS1420.1																																																																																				0.626	GPR37L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087496.2	NM_004767		8	188						8	188	---	---	---	---
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:10917819_10917820delAG	ENST00000272238.4	+	11	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	312					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|positive regulation of Wnt signaling pathway (GO:0030177)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|protein dimerization activity (GO:0046983)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604																																					NSCLC(188;1042 2136 10807 16813 47705)	ENST00000272238.4																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(934-936)afs		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2																																				SO:0001589	frameshift_variant	245973				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		g.chr2:10917819_10917820delAG	AY039759	CCDS1674.1, CCDS42653.1	2p25.1	2010-04-21	2006-01-13		ENSG00000143882	ENSG00000143882		"""ATPases / V-type"""	18264	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 42kD, V1 subunit C isoform 2"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C isoform 2"""			12384298	Standard	XR_426949		Approved	VMA5, ATP6C2	uc002ras.3	Q8NEY4	OTTHUMG00000090459	ENST00000272238.4:c.934_935delAG	2.37:g.10917829_10917830delAG	ENSP00000272238:p.Arg312fs					ATP6V1C2_ENST00000381661.3_Intron	p.R312fs	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN		Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)	11	1043_1044	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		312					Q96EL8	Frame_Shift_Del	DEL	ENST00000272238.4	37	c.934_935delAG	CCDS42653.1																																																																																				0.604	ATP6V1C2-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323555.1	NM_144583		15	500						15	500	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	CTG	-	rs539079430		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:26022304_26022306delCTG	ENST00000435504.4	-	5	644_646	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S	ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.89_90SS>S|ASXL2_ENST00000272341.4_5'UTR			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	117	Ser-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463																																						ENST00000435504.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(349-354)agt>ag		additional sex combs like 2 (Drosophila)																																				SO:0001651	inframe_deletion	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:26022304_26022306delCTG			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.351_353delCAG	2.37:g.26022313_26022315delCTG	ENSP00000391447:p.Ser118del					ASXL2_ENST00000497092.1_5'UTR|ASXL2_ENST00000336112.4_In_Frame_Del_p.SS89del|ASXL2_ENST00000272341.4_5'UTR	p.SS117del			Q76L83	ASXL2_HUMAN			5	644_646	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		117			Ser-rich.		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	In_Frame_Del	DEL	ENST00000435504.4	37	c.351_353delCAG																																																																																					0.463	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		10	720						10	720	---	---	---	---
BCL11A	53335	broad.mit.edu	37	2	60689253	60689254	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:60689253_60689254insG	ENST00000335712.6	-	4	1020_1021	c.793_794insC	c.(793-795)ctgfs	p.L265fs	BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.L231fs|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.L265fs|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.L231fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	265	Pro-rich.				B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|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 negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGGACTAAACAGGGGGGGAGTG	0.584			T	IGH@	B-CLL																																	ENST00000335712.6				Dom	yes		2	2p13	53335	T	B-cell CLL/lymphoma 11A			L	IGH@		B-CLL		0				NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59						c.(793-795)gttfs		B-cell CLL/lymphoma 11A (zinc finger protein)																																				SO:0001589	frameshift_variant	53335				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding	g.chr2:60689253_60689254insG	AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.794dupC	2.37:g.60689260_60689260dupG	ENSP00000338774:p.Leu265fs					BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000358510.4_Frame_Shift_Ins_p.V231fs|BCL11A_ENST00000356842.4_Frame_Shift_Ins_p.V265fs	p.V265fs	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)		4	1020_1021	-			265			Pro-rich.		D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	Frame_Shift_Ins	INS	ENST00000335712.6	37	c.793_794insC	CCDS1862.1																																																																																				0.584	BCL11A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251579.2	NM_022893		7	346						7	346	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98427639	98427639	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:98427639delT	ENST00000186436.5	-	18	2148	c.1920delA	c.(1918-1920)aaafs	p.K640fs		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	640						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TCCCCTCTAATTTTTTTGCAG	0.393																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(1918-1920)aafs		transmembrane protein 131							277.0	265.0	269.0					2																	98427639		1831	4095	5926	SO:0001589	frameshift_variant	23505					integral to membrane		g.chr2:98427639delT	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1920delA	2.37:g.98427639delT	ENSP00000186436:p.Lys640fs						p.K640fs	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			18	2148	-			640						Frame_Shift_Del	DEL	ENST00000186436.5	37	c.1920delA	CCDS46368.1																																																																																				0.393	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		7	1146						7	1146	---	---	---	---
EIF5B	9669	broad.mit.edu	37	2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:99977775_99977777delTGA	ENST00000289371.6	+	4	613_615	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B	142	Poly-Asp.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345																																					Colon(162;2388 2567 2705 3444)	ENST00000289371.5																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(409-414)agt>ag		eukaryotic translation initiation factor 5B																																				SO:0001651	inframe_deletion	9669				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chr2:99977775_99977777delTGA	AF078035	CCDS42721.1	2q11.2	2012-09-20			ENSG00000158417	ENSG00000158417			30793	protein-coding gene	gene with protein product	"""translation initiation factor IF2"""	606086				10200264, 10432305	Standard	XM_005264075		Approved	IF2, KIAA0741, DKFZp434I036, FLJ10524	uc002tab.3	O60841	OTTHUMG00000153242	ENST00000289371.6:c.411_413delTGA	2.37:g.99977784_99977786delTGA	ENSP00000289371:p.Asp142del						p.SD137del	NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN			4	613_615	+			137					O95805|Q53RV7|Q53SI8|Q9UF81|Q9UMN7	In_Frame_Del	DEL	ENST00000289371.6	37	c.411_413delTGA	CCDS42721.1																																																																																				0.345	EIF5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330364.2	NM_015904		8	467						8	467	---	---	---	---
NIFK	84365	broad.mit.edu	37	2	122485323	122485323	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:122485323delT	ENST00000285814.4	-	7	931	c.859delA	c.(859-861)agafs	p.R289fs	AC018737.1_ENST00000419902.1_RNA	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN		289					negative regulation of phosphatase activity (GO:0010923)|protein complex assembly (GO:0006461)|rRNA metabolic process (GO:0016072)|rRNA transcription (GO:0009303)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTCTTCGTCTTTTTTTCCGT	0.303																																						ENST00000285814.4																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|pancreas(1)|urinary_tract(1)	12						c.(859-861)gafs									126.0	124.0	125.0					2																	122485323		2203	4300	6503	SO:0001589	frameshift_variant	0				protein complex assembly|rRNA metabolic process|rRNA transcription	condensed nuclear chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr2:122485323delT																												ENST00000285814.4:c.859delA	2.37:g.122485323delT	ENSP00000285814:p.Arg289fs					AC018737.1_ENST00000419902.1_RNA	p.R289fs	NM_032390.4	NP_115766.3	Q9BYG3	MK67I_HUMAN			7	931	-			289					A8K788|Q8TB66|Q96ED4	Frame_Shift_Del	DEL	ENST00000285814.4	37	c.859delA	CCDS2135.1																																																																																				0.303	MKI67IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254239.2			7	574						7	574	---	---	---	---
ERCC3	2071	broad.mit.edu	37	2	128046944	128046946	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:128046944_128046946delTCT	ENST00000285398.2	-	6	883_885	c.789_791delAGA	c.(787-792)gaagag>gag	p.263_264EE>E	ERCC3_ENST00000493187.2_In_Frame_Del_p.199_200EE>E	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	263	Asp/Glu-rich (acidic).				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TGTCTGTGTCTCTTCTTCTTCTT	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(595-600)gag>ga	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3				16,4250		4,8,2121						4.7	1.0			85	43,8211		4,35,4088	no	coding	ERCC3	NM_000122.1		8,43,6209	A1A1,A1R,RR		0.521,0.3751,0.4712				59,12461				SO:0001651	inframe_deletion	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128046944_128046946delTCT	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.789_791delAGA	2.37:g.128046953_128046955delTCT	ENSP00000285398:p.Glu264del					ERCC3_ENST00000285398.2_In_Frame_Del_p.EE263del	p.EE199del			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	6	1060_1062	-	Colorectal(110;0.1)		263					Q53QM0	In_Frame_Del	DEL	ENST00000285398.2	37	c.597_599delAGA	CCDS2144.1																																																																																				0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		8	281						8	281	---	---	---	---
CIR1	9541	broad.mit.edu	37	2	175213712	175213713	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:175213712_175213713insT	ENST00000342016.3	-	10	957_958	c.865_866insA	c.(865-867)atafs	p.I289fs	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	289	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						cttcctttgtatttttttttct	0.381																																						ENST00000342016.3																			0				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						c.(865-867)acafs		corepressor interacting with RBPJ, 1																																				SO:0001589	frameshift_variant	9541				mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr2:175213712_175213713insT	AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.866dupA	2.37:g.175213721_175213721dupT	ENSP00000339723:p.Ile289fs					CIR1_ENST00000362053.5_3'UTR	p.T289fs	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN			10	957_958	-			289			Lys/Ser-rich.		A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Frame_Shift_Ins	INS	ENST00000342016.3	37	c.865_866insA	CCDS2256.1																																																																																				0.381	CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882		8	266						8	266	---	---	---	---
ANKRD44	91526	broad.mit.edu	37	2	197943383	197943384	+	Frame_Shift_Del	DEL	TG	TG	-	rs139294990		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:197943383_197943384delTG	ENST00000409153.1	-	16	1875_1876	c.1693_1694delCA	c.(1693-1695)catfs	p.H565fs	ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000282272.8_Intron|ANKRD44_ENST00000450567.1_Intron			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	0										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ATTTGGGGTATGTGTGTGTGTG	0.411																																						ENST00000409153.1																			0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1693-1695)tfs		ankyrin repeat domain 44																																				SO:0001589	frameshift_variant	91526						protein binding	g.chr2:197943383_197943384delTG	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000409153.1:c.1693_1694delCA	2.37:g.197943393_197943394delTG	ENSP00000387141:p.His565fs					ANKRD44_ENST00000539527.1_Frame_Shift_Del_p.H493fs|ANKRD44_ENST00000337207.5_Intron|ANKRD44_ENST00000328737.2_Intron|ANKRD44_ENST00000450567.1_Intron|ANKRD44_ENST00000282272.8_Intron	p.H565fs			Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1875_1876	-			811					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Frame_Shift_Del	DEL	ENST00000409153.1	37	c.1693_1694delCA																																																																																					0.411	ANKRD44-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000335114.3	NM_153697		7	96						7	96	---	---	---	---
ZDBF2	57683	broad.mit.edu	37	2	207174427	207174428	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:207174427_207174428insA	ENST00000374423.3	+	5	5561_5562	c.5175_5176insA	c.(5176-5178)aaafs	p.K1726fs		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1726							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGGGCTGATAAAAAAAAACG	0.45																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5173-5178)gaaaaafs		zinc finger, DBF-type containing 2																																				SO:0001589	frameshift_variant	57683						nucleic acid binding|zinc ion binding	g.chr2:207174427_207174428insA	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5184dupA	2.37:g.207174436_207174436dupA	ENSP00000363545:p.Lys1726fs						p.EK1725fs	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	5561_5562	+			1725					Q6ZNP7|Q6ZSN8	Frame_Shift_Ins	INS	ENST00000374423.3	37	c.5175_5176insA	CCDS46501.1																																																																																				0.450	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		8	220						8	220	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219892687	219892687	+	Frame_Shift_Del	DEL	G	G	-	rs532323836		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr2:219892687delG	ENST00000341552.5	-	13	1979	c.1896delC	c.(1894-1896)cccfs	p.P632fs	CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	632						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTCGGTCATGGGGGGGATAT	0.597																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1894-1896)ccfs		coiled-coil domain containing 108							58.0	65.0	63.0					2																	219892687		2196	4286	6482	SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219892687delG	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.1896delC	2.37:g.219892687delG	ENSP00000340776:p.Pro632fs					CCDC108_ENST00000441968.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.P632fs|CCDC108_ENST00000409865.3_Frame_Shift_Del_p.P621fs|CCDC108_ENST00000410037.1_Frame_Shift_Del_p.P567fs	p.P632fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	13	1979	-		Renal(207;0.0915)	632					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.1896delC	CCDS2430.2																																																																																				0.597	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		7	782						7	782	---	---	---	---
PDCD6IP	10015	broad.mit.edu	37	3	33866811	33866811	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:33866811delT	ENST00000307296.3	+	5	972	c.595delT	c.(595-597)tttfs	p.F200fs	PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	200	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						TCAAGAAGTATTTTTTTTAAA	0.368																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(595-597)ttfs		programmed cell death 6 interacting protein							94.0	101.0	99.0					3																	33866811		2203	4300	6503	SO:0001589	frameshift_variant	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33866811delT	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.595delT	3.37:g.33866811delT	ENSP00000307387:p.Phe200fs					PDCD6IP_ENST00000457054.2_Frame_Shift_Del_p.F200fs	p.F200fs			Q8WUM4	PDC6I_HUMAN			5	972	+			200			BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Frame_Shift_Del	DEL	ENST00000307296.3	37	c.595delT	CCDS2660.1																																																																																				0.368	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			7	547						7	547	---	---	---	---
APEH	327	broad.mit.edu	37	3	49723112	49723112	+	IGR	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:49723112delT	ENST00000296456.5	+	0	3220				MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Frame_Shift_Del_p.N435fs|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCATCTGGGTTCCGGCAGAA	0.587																																						ENST00000449682.2																			0				NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41						c.(1303-1305)acfs		macrophage stimulating 1 (hepatocyte growth factor-like)							43.0	42.0	43.0					3																	49723112		2203	4300	6503	SO:0001628	intergenic_variant	4485				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:49723112delT	D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723112delT						MST1_ENST00000383728.3_3'UTR	p.N435fs	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	11	1665	-			421			Kringle 4.		Q9BQ33|Q9P0Y2	Frame_Shift_Del	DEL	ENST00000296456.5	37	c.1304delA	CCDS2801.1																																																																																				0.587	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346415.2			7	365						7	365	---	---	---	---
ERC2	26059	broad.mit.edu	37	3	55733470	55733472	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:55733470_55733472delTGG	ENST00000288221.6	-	16	3036_3038	c.2781_2783delCCA	c.(2779-2784)caccat>cat	p.927_928HH>H		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	927	Poly-His.					cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|growth cone (GO:0030426)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		gtggtggtgatggtggtggtggt	0.502																																						ENST00000288221.6																			0				breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31						c.(2779-2784)cat>ca		ELKS/RAB6-interacting/CAST family member 2																																				SO:0001651	inframe_deletion	26059					cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	g.chr3:55733470_55733472delTGG	AB002376	CCDS46851.1	3p14.3	2006-08-14			ENSG00000187672	ENSG00000187672			31922	protein-coding gene	gene with protein product							Standard	NM_015576		Approved	CAST, CAST1, KIAA0378, SPBC110, Spc110, ELKSL	uc003dhr.1	O15083	OTTHUMG00000158390	ENST00000288221.6:c.2781_2783delCCA	3.37:g.55733479_55733481delTGG	ENSP00000288221:p.His932del						p.HH931del	NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)	16	3036_3038	-			931			Poly-His.		Q2T9F6|Q86TK4	In_Frame_Del	DEL	ENST00000288221.6	37	c.2781_2783delCCA	CCDS46851.1																																																																																				0.502	ERC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350884.2	NM_015576		9	1368						9	1368	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100039735	100039736	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:100039735_100039736insA	ENST00000394144.4	+	18	1945_1946	c.1938_1939insA	c.(1939-1941)aaafs	p.K647fs	TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.K632fs|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.K510fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	647					positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						AAATTACATCCAAAAAAAAACA	0.356																																						ENST00000394144.4																			4	Unknown(2)|Insertion - Frameshift(2)	p.?(2)|p.H650fs*3(1)|p.H635fs*3(1)	large_intestine(2)|skin(2)	breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						c.(1936-1941)tcaaaafs		TBC1 domain family, member 23																																				SO:0001589	frameshift_variant	55773					intracellular	Rab GTPase activator activity	g.chr3:100039735_100039736insA	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.1947dupA	3.37:g.100039744_100039744dupA	ENSP00000377700:p.Lys647fs					TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Frame_Shift_Ins_p.SK509fs|TBC1D23_ENST00000344949.5_Frame_Shift_Ins_p.SK631fs	p.SK646fs	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN			18	1945_1946	+			646					B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Frame_Shift_Ins	INS	ENST00000394144.4	37	c.1938_1939insA	CCDS56265.1																																																																																				0.356	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		8	296						8	296	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			10	1126						10	1126	---	---	---	---
KIAA2018	205717	broad.mit.edu	37	3	113380090	113380090	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:113380090delT	ENST00000478658.1	-	5	456	c.439delA	c.(439-441)attfs	p.I148fs	KIAA2018_ENST00000316407.4_Frame_Shift_Del_p.I148fs|KIAA2018_ENST00000491165.1_Intron			Q68DE3	K2018_HUMAN	KIAA2018	148						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						TAAACAATAATTTTTTTTTGA	0.373																																						ENST00000316407.4																			0				NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						c.(439-441)ttfs		KIAA2018							90.0	87.0	88.0					3																	113380090		1813	4072	5885	SO:0001589	frameshift_variant	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113380090delT	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.439delA	3.37:g.113380090delT	ENSP00000420721:p.Ile148fs					KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Frame_Shift_Del_p.I148fs	p.I148fs	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN			7	849	-			148					Q7Z3L9|Q8IVF3|Q9H8T4	Frame_Shift_Del	DEL	ENST00000478658.1	37	c.439delA	CCDS43133.1																																																																																				0.373	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		9	550						9	550	---	---	---	---
PDIA5	10954	broad.mit.edu	37	3	122869089	122869089	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:122869089delC	ENST00000316218.7	+	14	1246	c.1151delC	c.(1150-1152)gccfs	p.A384fs	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	384	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.|Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		AGCCCTGAGGCCCCCCCGCCC	0.602																																						ENST00000316218.7																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21						c.(1150-1152)gcfs		protein disulfide isomerase family A, member 5							47.0	53.0	51.0					3																	122869089		2203	4300	6503	SO:0001589	frameshift_variant	10954				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr3:122869089delC	AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1151delC	3.37:g.122869089delC	ENSP00000323313:p.Ala384fs					PDIA5_ENST00000467157.1_3'UTR	p.A384fs	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN		GBM - Glioblastoma multiforme(114;0.0427)	14	1246	+			384			Thioredoxin 2.|Thioredoxin 3.		D3DN95|Q9BV43	Frame_Shift_Del	DEL	ENST00000316218.7	37	c.1151delC	CCDS3020.1																																																																																				0.602	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810		7	628						7	628	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164906329	164906331	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:164906329_164906331delCCT	ENST00000475390.1	-	2	2731_2733	c.2288_2290delAGG	c.(2287-2292)gaggtg>gtg	p.E763del	SLITRK3_ENST00000241274.3_In_Frame_Del_p.E763del			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	763					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				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						GAAACAGCCACCTCCTCCTCCTC	0.581										HNSCC(40;0.11)																												ENST00000475390.1																			0				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						c.(2287-2292)gtg>g		SLIT and NTRK-like family, member 3																																				SO:0001651	inframe_deletion	22865					integral to membrane		g.chr3:164906329_164906331delCCT	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.2288_2290delAGG	3.37:g.164906338_164906340delCCT	ENSP00000420091:p.Glu763del	HNSCC(40;0.11)				SLITRK3_ENST00000241274.3_In_Frame_Del_p.EV763del	p.EV763del			O94933	SLIK3_HUMAN			2	2731_2733	-			763					Q1RMY6	In_Frame_Del	DEL	ENST00000475390.1	37	c.2288_2290delAGG	CCDS3197.1																																																																																				0.581	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		7	637						7	637	---	---	---	---
FETUB	26998	broad.mit.edu	37	3	186362544	186362544	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:186362544delA	ENST00000265029.3	+	4	530	c.429delA	c.(427-429)tcafs	p.S143fs	FETUB_ENST00000539949.1_5'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	143					binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CAACAGTTTCAAAAAAAAAGA	0.418																																						ENST00000265029.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(427-429)tcfs		fetuin B							91.0	87.0	89.0					3																	186362544		2203	4300	6503	SO:0001589	frameshift_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362544delA	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.429delA	3.37:g.186362544delA	ENSP00000265029:p.Ser143fs					FETUB_ENST00000539949.1_5'UTR|FETUB_ENST00000488561.1_3'UTR|FETUB_ENST00000382134.3_Frame_Shift_Del_p.S78fs|FETUB_ENST00000382136.3_Frame_Shift_Del_p.S106fs|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000450521.1_Frame_Shift_Del_p.S143fs|RP11-134F2.2_ENST00000428501.1_RNA	p.S143fs	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	530	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		143					B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Frame_Shift_Del	DEL	ENST00000265029.3	37	c.429delA	CCDS3279.1																																																																																				0.418	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375		14	547						14	547	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			11	27						11	27	---	---	---	---
CRIPAK	285464	broad.mit.edu	37	4	1389023	1389024	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:1389023_1389024insCA	ENST00000324803.4	+	1	3684_3685	c.724_725insCA	c.(724-726)tcafs	p.S242fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	242					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCGCCTGCTCACACGTGCCC	0.678																																						ENST00000324803.4																			0				NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35						c.(724-726)acafs		cysteine-rich PAK1 inhibitor																																				SO:0001589	frameshift_variant	285464				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding	g.chr4:1389023_1389024insCA	AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.727_728dupCA	4.37:g.1389026_1389027dupCA	ENSP00000323978:p.Ser242fs						p.T242fs	NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0106)		1	3684_3685	+			242					Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	c.724_725insCA	CCDS3349.1																																																																																				0.678	CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918		8	2498						8	2498	---	---	---	---
NAP1L5	266812	broad.mit.edu	37	4	89618484	89618486	+	In_Frame_Del	DEL	TCC	TCC	-	rs201095744|rs147461195	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:89618484_89618486delTCC	ENST00000323061.5	-	1	900_902	c.420_422delGGA	c.(418-423)gaggaa>gaa	p.140_141EE>E	HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	140	Glu-rich.				nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		gtactcctcttcctcctcctcct	0.606														5	0.000998403	0.0008	0.0058	5008	,	,		14727	0.0		0.0	False		,,,				2504	0.0					ENST00000323061.5																			0				endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7						c.(418-423)gaa>ga		nucleosome assembly protein 1-like 5																																				SO:0001651	inframe_deletion	266812				nucleosome assembly	nucleus	protein binding	g.chr4:89618484_89618486delTCC	NM_153757	CCDS3632.1	4q21-q22	2006-04-12			ENSG00000177432	ENSG00000177432			19968	protein-coding gene	gene with protein product		612203				12383514	Standard	NM_153757		Approved	DRLM	uc003hrx.3	Q96NT1	OTTHUMG00000130950	ENST00000323061.5:c.420_422delGGA	4.37:g.89618493_89618495delTCC	ENSP00000320488:p.Glu143del					HERC3_ENST00000264345.3_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000543130.1_Intron	p.EE142del	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000181)	1	900_902	-			142			Glu-rich.			In_Frame_Del	DEL	ENST00000323061.5	37	c.420_422delGGA	CCDS3632.1																																																																																				0.606	NAP1L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253551.1	NM_153757		11	409						11	409	---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119686069	119686069	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr4:119686069delG	ENST00000280551.6	-	10	1422	c.1184delC	c.(1183-1185)ccafs	p.P396fs	SEC24D_ENST00000511481.1_Frame_Shift_Del_p.P27fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000379735.5_Frame_Shift_Del_p.P397fs			O94855	SC24D_HUMAN	SEC24 family member D	396					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)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	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)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATAGAATGGTGGAACTAATAA	0.323																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(1186-1188)cafs		SEC24 family member D							87.0	88.0	88.0					4																	119686069		2203	4300	6503	SO:0001589	frameshift_variant	9871				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	zinc ion binding	g.chr4:119686069delG	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.1184delC	4.37:g.119686069delG	ENSP00000280551:p.Pro396fs					SEC24D_ENST00000280551.6_Frame_Shift_Del_p.P396fs|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.P27fs|SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000505134.1_5'UTR	p.P397fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			10	1458	-			396					Q8IYI7	Frame_Shift_Del	DEL	ENST00000280551.6	37	c.1187delC	CCDS3710.1																																																																																				0.323	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			36	436						36	436	---	---	---	---
CEP72	55722	broad.mit.edu	37	5	640649	640651	+	In_Frame_Del	DEL	AGC	AGC	-	rs141221365		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:640649_640651delAGC	ENST00000264935.5	+	9	1559_1561	c.1469_1471delAGC	c.(1468-1473)gagcag>gag	p.Q494del	CEP72_ENST00000444221.1_3'UTR	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	494					G2/M transition of mitotic cell cycle (GO:0000086)|gamma-tubulin complex localization (GO:0033566)|mitotic cell cycle (GO:0000278)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CGCCTTGCTGAGCAGCAGCAGCA	0.621																																						ENST00000264935.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20						c.(1468-1473)gag>g		centrosomal protein 72kDa				126,4140		62,2,2069						4.2	0.1		dbSNP_134	76	220,8034		107,6,4014	no	coding	CEP72	NM_018140.3		169,8,6083	A1A1,A1R,RR		2.6654,2.9536,2.7636				346,12174				SO:0001651	inframe_deletion	55722				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol		g.chr5:640649_640651delAGC	BC000132	CCDS34126.1	5p15.33	2014-02-20			ENSG00000112877	ENSG00000112877			25547	protein-coding gene	gene with protein product						10819331	Standard	NM_018140		Approved	KIAA1519, FLJ10565	uc003jbf.3	Q9P209	OTTHUMG00000161745	ENST00000264935.5:c.1469_1471delAGC	5.37:g.640658_640660delAGC	ENSP00000264935:p.Gln494del					CEP72_ENST00000444221.1_3'UTR	p.EQ490del	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)		9	1559_1561	+			490					B4DR26|Q9BV03|Q9BWM3|Q9NVR4	In_Frame_Del	DEL	ENST00000264935.5	37	c.1469_1471delAGC	CCDS34126.1																																																																																				0.621	CEP72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000365967.3	NM_018140		7	446						7	446	---	---	---	---
BRD9	65980	broad.mit.edu	37	5	889776	889777	+	Intron	INS	-	-	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:889776_889777insA	ENST00000467963.1	-	4	567				TRIP13_ENST00000166345.3_5'Flank|BRD9_ENST00000323510.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000483173.1_Intron|BRD9_ENST00000494422.1_5'Flank|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.F13fs|BRD9_ENST00000435709.2_Frame_Shift_Ins_p.F13fs	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9						chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ACAATTTAAGGAAAAAAAAATT	0.446																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(37-39)tctfs		bromodomain containing 9			,	2,4262		0,2,2130					,	-1.5	0.0			96	1,8253		0,1,4126	no	intron,intron	BRD9	NM_023924.4,NM_001009877.2	,	0,3,6256	A1A1,A1R,RR		0.0121,0.0469,0.024	,	,		3,12515				SO:0001627	intron_variant	65980						nucleic acid binding	g.chr5:889776_889777insA	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.401-14->T	5.37:g.889785_889785dupA						BRD9_ENST00000435709.2_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000467963.1_Intron|BRD9_ENST00000388890.4_Frame_Shift_Ins_p.S13fs|BRD9_ENST00000483173.1_Intron	p.S13fs			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		1	37_38	-			0					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Frame_Shift_Ins	INS	ENST00000467963.1	37	c.38_39insT	CCDS34127.2																																																																																				0.446	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		7	488						7	488	---	---	---	---
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:140032593_140032594delGA	ENST00000417647.2	+	5	407_408	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_ENST00000523672.1_3'UTR	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	90					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.46																																						ENST00000417647.2																			0				large_intestine(1)	1						c.(268-270)gfs		IK cytokine, down-regulator of HLA II																																				SO:0001589	frameshift_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140032593_140032594delGA	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.268_269delGA	5.37:g.140032603_140032604delGA	ENSP00000396301:p.Glu90fs					IK_ENST00000523672.1_3'UTR	p.E90fs	NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		5	407_408	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	90					Q6IPD8	Frame_Shift_Del	DEL	ENST00000417647.2	37	c.268_269delGA	CCDS47280.1																																																																																				0.460	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083		7	238						7	238	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			13	18						13	18	---	---	---	---
EHMT2	10919	broad.mit.edu	37	6	31857309	31857311	+	In_Frame_Del	DEL	TCT	TCT	-	rs138941874		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:31857309_31857311delTCT	ENST00000375537.4	-	8	939_941	c.933_935delAGA	c.(931-936)gaagag>gag	p.311_312EE>E	EHMT2_ENST00000395728.3_In_Frame_Del_p.368_369EE>E|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_In_Frame_Del_p.311_312EE>E|EHMT2_ENST00000375528.4_In_Frame_Del_p.368_369EE>E	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	311	Poly-Glu.				DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						ctcctcttcctcttcttcttctt	0.493																																						ENST00000395728.3																			0				central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						c.(1102-1107)gag>ga		euchromatic histone-lysine N-methyltransferase 2																																				SO:0001651	inframe_deletion	10919				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	g.chr6:31857309_31857311delTCT	AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.933_935delAGA	6.37:g.31857318_31857320delTCT	ENSP00000364687:p.Glu323del					EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_In_Frame_Del_p.EE378del|EHMT2_ENST00000375530.4_In_Frame_Del_p.EE321del|EHMT2_ENST00000375537.4_In_Frame_Del_p.EE321del	p.EE378del			Q96KQ7	EHMT2_HUMAN			7	1103_1105	-			321					B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	In_Frame_Del	DEL	ENST00000375537.4	37	c.1104_1106delAGA	CCDS4725.1																																																																																				0.493	EHMT2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000076355.5	NM_006709		7	371						7	371	---	---	---	---
STK19	8859	broad.mit.edu	37	6	31939825	31939826	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:31939825_31939826insG	ENST00000375333.2	+	1	105_106	c.52_53insG	c.(52-54)cggfs	p.R18fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375356.3_5'Flank|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375331.2_Frame_Shift_Ins_p.R18fs	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	18					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						GCGACAGTGGCGGGCAAACCCC	0.634																																						ENST00000375331.2																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(52-54)ggcfs		serine/threonine kinase 19																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939825_31939826insG	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.55dupG	6.37:g.31939828_31939828dupG	ENSP00000364482:p.Arg18fs					DOM3Z_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.G18fs|DOM3Z_ENST00000375349.3_5'UTR|DOM3Z_ENST00000337523.5_5'UTR	p.G18fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN			1	218_219	+			18					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.52_53insG	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3			8	832						8	832	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-	rs142054686		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ATTCCACTGTGAGAGGGCTCAT	0.396																																						ENST00000411500.1																			0																																																			0							g.chr6:32523273_32523274delGA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523275_32523276delGA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.396	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		14	75						14	75	---	---	---	---
DAXX	1616	broad.mit.edu	37	6	33289253	33289253	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:33289253delA	ENST00000374542.5	-	3	503	c.299delT	c.(298-300)ttgfs	p.L100fs	DAXX_ENST00000414083.2_Frame_Shift_Del_p.L25fs|DAXX_ENST00000477162.1_Intron|DAXX_ENST00000266000.6_Frame_Shift_Del_p.L100fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	100	Necessary for interaction with USP7 and ATRX.				activation of JUN kinase activity (GO:0007257)|androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|chromatin remodeling (GO:0006338)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|mitotic cytokinesis (GO:0000281)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of neuron death (GO:1901216)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein ubiquitination (GO:0031396)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|PML body (GO:0016605)|SWI/SNF superfamily-type complex (GO:0070603)	androgen receptor binding (GO:0050681)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|histone binding (GO:0042393)|p53 binding (GO:0002039)|protein homodimerization activity (GO:0042803)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|receptor signaling protein activity (GO:0005057)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CGCCGAGGCCAAAAACAGAGA	0.547			"""Mis, F, N"""		Pancreatic neuroendocrine tumors. Paediatric GBM																																	ENST00000374542.5				Rec	yes		6	6p21.3	1616	"""Mis, F, N"""	death-domain associated protein			E			Pancreatic neuroendocrine tumors. Paediatric GBM		0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						c.(298-300)tgfs		death-domain associated protein							69.0	74.0	73.0					6																	33289253		2203	4300	6503	SO:0001589	frameshift_variant	1616				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	g.chr6:33289253delA	AF006041	CCDS4776.1, CCDS59008.1	6p21.3	2008-08-29	2008-08-29			ENSG00000204209			2681	protein-coding gene	gene with protein product		603186	"""death-associated protein 6"""			9407001, 9215629	Standard	NM_001141970		Approved	DAP6	uc011dre.2	Q9UER7		ENST00000374542.5:c.299delT	6.37:g.33289253delA	ENSP00000363668:p.Leu100fs					DAXX_ENST00000414083.2_Frame_Shift_Del_p.L25fs|DAXX_ENST00000266000.6_Frame_Shift_Del_p.L100fs|DAXX_ENST00000477162.1_Intron	p.L100fs	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN			3	503	-			100			Necessary for interaction with USP7.		B4E1I3|F5H082|O14747|O15141|O15208|Q5STK9|Q9BWI3	Frame_Shift_Del	DEL	ENST00000374542.5	37	c.299delT	CCDS4776.1																																																																																				0.547	DAXX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076403.1			7	653						7	653	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		8	250						8	250	---	---	---	---
EPB41L2	2037	broad.mit.edu	37	6	131191073	131191075	+	In_Frame_Del	DEL	CTG	CTG	-	rs147222924		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:131191073_131191075delCTG	ENST00000337057.3	-	15	2416_2418	c.2235_2237delCAG	c.(2233-2238)agcagt>agt	p.745_746SS>S	EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000368128.2_In_Frame_Del_p.745_746SS>S|EPB41L2_ENST00000527411.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.123_124SS>S|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.675_676SS>S|EPB41L2_ENST00000530481.1_In_Frame_Del_p.675_676SS>S	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	745					cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCACTCTCACTGCTGCTGCTGC	0.562																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(2233-2238)agt>ag		erythrocyte membrane protein band 4.1-like 2																																				SO:0001651	inframe_deletion	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131191073_131191075delCTG	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2235_2237delCAG	6.37:g.131191082_131191084delCTG	ENSP00000338481:p.Ser746del					EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000524581.1_In_Frame_Del_p.SS123del|EPB41L2_ENST00000525271.1_Intron|EPB41L2_ENST00000529208.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000368128.2_In_Frame_Del_p.SS745del|EPB41L2_ENST00000528282.1_Intron|EPB41L2_ENST00000445890.2_Intron|EPB41L2_ENST00000527659.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000527411.1_In_Frame_Del_p.SS675del|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000530757.1_Intron|EPB41L2_ENST00000530481.1_In_Frame_Del_p.SS675del	p.SS745del	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	15	2416_2418	-	Breast(56;0.0639)		745					B4DHI8|E9PPD9|Q5T4F0|Q68DV2	In_Frame_Del	DEL	ENST00000337057.3	37	c.2235_2237delCAG	CCDS5141.1																																																																																				0.562	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			7	482						7	482	---	---	---	---
CCDC28A	25901	broad.mit.edu	37	6	139097330	139097330	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr6:139097330delA	ENST00000332797.6	+	2	498	c.343delA	c.(343-345)aaafs	p.K116fs		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	116								p.N117fs*5(2)		autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		TGTCAATGCCAAAAAAAATGC	0.413																																						ENST00000332797.6																			2	Deletion - Frameshift(2)	p.N117fs*5(2)	large_intestine(2)	autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13						c.(343-345)aafs		coiled-coil domain containing 28A							112.0	108.0	109.0					6																	139097330		2203	4300	6503	SO:0001589	frameshift_variant	25901							g.chr6:139097330delA	AY167571	CCDS5192.1	6q23.1-q24.1	2008-02-05	2005-09-12	2005-09-12	ENSG00000024862	ENSG00000024862			21098	protein-coding gene	gene with protein product		615353	"""chromosome 6 open reading frame 80"""	C6orf80			Standard	NM_015439		Approved	CCRL1AP, DKFZp586D0623	uc003qie.3	Q8IWP9	OTTHUMG00000015683	ENST00000332797.6:c.343delA	6.37:g.139097330delA	ENSP00000332716:p.Lys116fs						p.K116fs	NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)	2	498	+			116					E1P591|Q32NC7|Q66K67|Q96E23|Q9Y430	Frame_Shift_Del	DEL	ENST00000332797.6	37	c.343delA	CCDS5192.1																																																																																				0.413	CCDC28A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042444.1	NM_015439		7	402						7	402	---	---	---	---
GLCCI1	113263	broad.mit.edu	37	7	8126097	8126099	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:8126097_8126099delCAG	ENST00000223145.5	+	8	2130_2132	c.1573_1575delCAG	c.(1573-1575)cagdel	p.Q528del		NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN	glucocorticoid induced transcript 1	528	Poly-Gln.					cytoplasm (GO:0005737)				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		GCAGCCATCCCAGCAGCAGCAGC	0.562																																						ENST00000223145.5																			0				endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25						c.(1573-1575)del		glucocorticoid induced transcript 1																																				SO:0001651	inframe_deletion	113263							g.chr7:8126097_8126099delCAG	BC050291	CCDS34601.1	7p22.2	2008-08-18			ENSG00000106415	ENSG00000106415			18713	protein-coding gene	gene with protein product		614283					Standard	NM_138426		Approved	GIG18, FAM117C, TSSN1	uc003srk.4	Q86VQ1	OTTHUMG00000151984	ENST00000223145.5:c.1573_1575delCAG	7.37:g.8126106_8126108delCAG	ENSP00000223145:p.Gln528del						p.Q528del	NM_138426.3	NP_612435.1	Q86VQ1	GLCI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)	8	2130_2132	+		Ovarian(82;0.0608)	528			Poly-Gln.		A4D103|Q96FD0	In_Frame_Del	DEL	ENST00000223145.5	37	c.1573_1575delCAG	CCDS34601.1																																																																																				0.562	GLCCI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324672.1	NM_138426		8	1672						8	1672	---	---	---	---
TRGC2	6967	broad.mit.edu	37	7	38284901	38284902	+	RNA	DEL	TA	TA	-	rs200052170|rs370662429		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:38284901_38284902delTA	ENST00000436911.2	-	0	330							P03986	TRGC2_HUMAN	T cell receptor gamma constant 2						immune response (GO:0006955)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	transmembrane signaling receptor activity (GO:0004888)										tgtgtgtgtgtatgtgtgtgtg	0.376																																						ENST00000436911.2																			0																																																			0							g.chr7:38284901_38284902delTA	M15002		7p14	2012-02-07			ENSG00000227191	ENSG00000227191		"""T cell receptors / TRG locus"""	12276	other	T cell receptor gene	"""T-cell receptor, gamma, constant region C2"""	615450		TCRGC2		3458221	Standard	NG_001336		Approved	TRGC2(2X), TRGC2(3X)		P03986	OTTHUMG00000155215		7.37:g.38284901_38284902delTA														0	330	-									RNA	DEL	ENST00000436911.2	37																																																																																						0.376	TRGC2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TR_C_gene	OTTHUMT00000338821.2	NG_001336		8	452						8	452	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379288_39379290delCAG	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		14	155						14	155	---	---	---	---
TYW1B	441250	broad.mit.edu	37	7	72267341	72267342	+	RNA	DEL	AC	AC	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:72267341_72267342delAC	ENST00000435769.2	-	0	969				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000438904.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing (GO:0008033)		4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)										CAGATGGACTACACAGTAATAA	0.386																																						ENST00000438125.1																			0													tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)																																						441250				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:72267341_72267342delAC	BC068520	CCDS69309.1	7q11.23	2011-08-11	2009-07-28		ENSG00000254184	ENSG00000277149			33908	protein-coding gene	gene with protein product	"""radical S-adenosyl methionine and flavodoxin domains 1"", ""non-protein coding RNA 69"", ""long intergenic non-protein coding RNA 69"""		"""tRNA-yW synthesizing protein 1 homolog B (non-protein coding)"""				Standard	NM_001145440		Approved	RSAFD2, MGC87315, NCRNA00069, LINC00069	uc011kej.2	Q6NUM6	OTTHUMG00000157067		7.37:g.72267343_72267344delAC										Q6NUM6	TYW1B_HUMAN			0	459	-								A6NG09|B4DFY2|Q3KQX2	RNA	DEL	ENST00000435769.2	37																																																																																						0.386	TYW1B-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347346.2	NM_001145440		23	157						23	157	---	---	---	---
STX1A	6804	broad.mit.edu	37	7	73123425	73123427	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:73123425_73123427delCAT	ENST00000222812.3	-	2	82_84	c.56_58delATG	c.(55-60)gatgtc>gtc	p.D19del	STX1A_ENST00000395154.3_In_Frame_Del_p.D19del|STX1A_ENST00000395156.3_In_Frame_Del_p.D19del|MIR4284_ENST00000578924.1_RNA|STX1A_ENST00000395155.3_In_Frame_Del_p.D19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN	syntaxin 1A (brain)	19					calcium ion-dependent exocytosis (GO:0017156)|cellular protein metabolic process (GO:0044267)|energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|neurotransmitter secretion (GO:0007269)|positive regulation of exocytosis (GO:0045921)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of insulin secretion (GO:0050796)|response to gravity (GO:0009629)|secretion by cell (GO:0032940)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)	actomyosin (GO:0042641)|cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synaptic vesicle membrane (GO:0030672)|synaptobrevin 2-SNAP-25-syntaxin-1a complex (GO:0070044)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin II complex (GO:0070033)	calcium channel inhibitor activity (GO:0019855)			large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(55;0.0908)|all_lung(88;0.198)				GTGACAGCGACATCATCATCATC	0.586																																						ENST00000222812.3																			0				large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(55-60)gtc>g		syntaxin 1A (brain)																																				SO:0001651	inframe_deletion	6804				energy reserve metabolic process|glutamate secretion|intracellular protein transport|regulation of insulin secretion	cell junction|extracellular region|integral to membrane|neuron projection|synaptic vesicle membrane|synaptosome	SNAP receptor activity	g.chr7:73123425_73123427delCAT		CCDS34655.1, CCDS55120.1	7q11.2	2008-07-18			ENSG00000106089	ENSG00000106089			11433	protein-coding gene	gene with protein product		186590		STX1		1321498	Standard	NM_001165903		Approved	HPC-1, p35-1	uc003tyx.3	Q16623	OTTHUMG00000137422	ENST00000222812.3:c.56_58delATG	7.37:g.73123434_73123436delCAT	ENSP00000222812:p.Asp19del					STX1A_ENST00000395156.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395155.3_In_Frame_Del_p.DV19del|STX1A_ENST00000395154.3_In_Frame_Del_p.DV19del	p.DV19del	NM_004603.3	NP_004594.1	Q16623	STX1A_HUMAN			2	82_84	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	19					O15447|O15448|Q12936|Q75MD9|Q7Z5K3|Q9BPZ6	In_Frame_Del	DEL	ENST00000222812.3	37	c.56_58delATG	CCDS34655.1																																																																																				0.586	STX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268422.1	NM_004603		7	732						7	732	---	---	---	---
STYXL1	51657	broad.mit.edu	37	7	75651194	75651196	+	In_Frame_Del	DEL	ATC	ATC	-	rs374157398		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:75651194_75651196delATC	ENST00000248600.1	-	4	622_624	c.280_282delGAT	c.(280-282)gatdel	p.D94del	STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del|STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del|STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron|STYXL1_ENST00000451157.1_In_Frame_Del_p.D94del	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	94	Rhodanese.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						CAGAGTCTGAATCATCATCATCA	0.433																																						ENST00000451157.1																			0				endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(280-282)del		serine/threonine/tyrosine interacting-like 1																																				SO:0001651	inframe_deletion	51657				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75651194_75651196delATC	AF069762	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	protein-coding gene	gene with protein product			"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	Standard	NM_016086		Approved	MK-STYX	uc003uel.3	Q9Y6J8	OTTHUMG00000130459	ENST00000248600.1:c.280_282delGAT	7.37:g.75651203_75651205delATC	ENSP00000248600:p.Asp94del					STYXL1_ENST00000460184.2_5'UTR|STYXL1_ENST00000431581.1_In_Frame_Del_p.D94del|STYXL1_ENST00000360591.3_In_Frame_Del_p.D94del|STYXL1_ENST00000248600.1_In_Frame_Del_p.D94del|STYXL1_ENST00000359697.3_In_Frame_Del_p.D94del|STYXL1_ENST00000340062.5_Intron	p.D94del			Q9Y6J8	STYL1_HUMAN			4	449_451	-			94			Rhodanese.		Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	In_Frame_Del	DEL	ENST00000248600.1	37	c.280_282delGAT	CCDS5580.1																																																																																				0.433	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1	NM_016086		7	1653						7	1653	---	---	---	---
GIGYF1	64599	broad.mit.edu	37	7	100284335	100284337	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:100284335_100284337delCCT	ENST00000275732.5	-	7	1838_1840	c.629_631delAGG	c.(628-633)gagggc>ggc	p.E210del	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	210	Poly-Glu.				insulin-like growth factor receptor signaling pathway (GO:0048009)			p.E210delE(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTCCAGCTGCcctcctcctcctc	0.7																																						ENST00000275732.5																			1	Deletion - In frame(1)	p.E210delE(1)	large_intestine(1)	central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						c.(628-633)ggc>g		GRB10 interacting GYF protein 1				14,2,4238		0,0,14,0,2,2111						5.0	1.0			29	36,2,8190		0,0,36,0,2,4076	no	codingComplex	GIGYF1	NM_022574.4		0,0,50,0,4,6187	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4618,0.3761,0.4326				50,4,12428				SO:0001651	inframe_deletion	64599							g.chr7:100284335_100284337delCCT	AF053356	CCDS34708.1	7q22	2008-02-11	2008-02-11	2008-02-11	ENSG00000146830	ENSG00000146830			9126	protein-coding gene	gene with protein product	"""GYF domain containing 1"""	612064	"""PERQ amino acid rich, with GYF domain 1"""	PERQ1		9799793, 12771153	Standard	NM_022574		Approved	GYF1	uc003uwg.1	O75420	OTTHUMG00000157036	ENST00000275732.5:c.629_631delAGG	7.37:g.100284344_100284346delCCT	ENSP00000275732:p.Glu210del					GIGYF1_ENST00000471340.2_Intron	p.EG210del	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN			7	1838_1840	-	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)		210			Poly-Glu.		Q6Y7W7|Q8WZ38	In_Frame_Del	DEL	ENST00000275732.5	37	c.629_631delAGG	CCDS34708.1																																																																																				0.700	GIGYF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347205.2	NM_022574		9	415						9	415	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102883498	102883498	+	RNA	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:102883498delA	ENST00000312132.4	-	0	2616							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										GTACCACTGTAAAAAAAAAAA	0.284																																						ENST00000312132.4																			0																																																			0							g.chr7:102883498delA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102883498delA														0	2616	-								Q8N9V4|Q8ND62	RNA	DEL	ENST00000312132.4	37																																																																																						0.284	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		15	75						15	75	---	---	---	---
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr7:152346220delA	ENST00000359321.1	-	3	435	c.350delT	c.(349-351)ttgfs	p.L117fs	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	117					centrosome organization (GO:0051297)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|in utero embryonic development (GO:0001701)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of neurogenesis (GO:0050769)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|strand invasion (GO:0042148)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|replication fork (GO:0005657)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination																														ENST00000359321.1																			1	Insertion - Frameshift(1)	p.V118fs*5(1)	NS(1)	NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11						c.(349-351)tgfs	Homologous recombination	X-ray repair complementing defective repair in Chinese hamster cells 2							79.0	80.0	80.0					7																	152346220		2203	4300	6503	SO:0001589	frameshift_variant	7516				meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	g.chr7:152346220delA	Y08837	CCDS5933.1	7q36	2006-05-04			ENSG00000196584	ENSG00000196584			12829	protein-coding gene	gene with protein product	"""RAD51-like"""	600375				7607692, 10422536	Standard	NM_005431		Approved		uc003wld.3	O43543	OTTHUMG00000151470	ENST00000359321.1:c.350delT	7.37:g.152346220delA	ENSP00000352271:p.Leu117fs					XRCC2_ENST00000495707.1_5'UTR	p.L117fs	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)	3	435	-		all_hematologic(28;0.0592)|Prostate(32;0.081)	117					B2R925	Frame_Shift_Del	DEL	ENST00000359321.1	37	c.350delT	CCDS5933.1																																																																																				0.393	XRCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322783.1	NM_005431		7	452						7	452	---	---	---	---
CSPP1	79848	broad.mit.edu	37	8	68076631	68076631	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:68076631delA	ENST00000262210.5	+	22	2732	c.2701delA	c.(2701-2703)aaafs	p.K902fs	CSPP1_ENST00000412460.1_Frame_Shift_Del_p.K557fs|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	937					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TGCAGAGGAGAAAAAAAATGT	0.343																																						ENST00000262210.5																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2701-2703)aafs		centrosome and spindle pole associated protein 1							77.0	74.0	75.0					8																	68076631		1810	4077	5887	SO:0001589	frameshift_variant	79848					centrosome|microtubule|spindle		g.chr8:68076631delA	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2701delA	8.37:g.68076631delA	ENSP00000262210:p.Lys902fs					CSPP1_ENST00000412460.1_Frame_Shift_Del_p.K557fs|CSPP1_ENST00000521168.1_3'UTR	p.K902fs	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		22	2732	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	937					A6ND63|Q70F00|Q8TBC1	Frame_Shift_Del	DEL	ENST00000262210.5	37	c.2701delA	CCDS43744.1																																																																																				0.343	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790		7	400						7	400	---	---	---	---
UBR5	51366	broad.mit.edu	37	8	103289348	103289349	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:103289348_103289349insT	ENST00000520539.1	-	45	6966_6967	c.6360_6361insA	c.(6358-6363)aaagaafs	p.E2121fs	UBR5_ENST00000220959.4_Frame_Shift_Ins_p.E2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.E2115fs	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2121					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.E2121fs*28(2)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCTTCCCCTTCTTTTTTTTGCC	0.381																																					Ovarian(131;96 1741 5634 7352 27489)	ENST00000520539.1																			2	Deletion - Frameshift(2)	p.E2121fs*28(2)	breast(1)|kidney(1)	NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124						c.(6358-6363)aaaaggfs		ubiquitin protein ligase E3 component n-recognin 5																																				SO:0001589	frameshift_variant	51366				cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding	g.chr8:103289348_103289349insT	AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.6361dupA	8.37:g.103289356_103289356dupT	ENSP00000429084:p.Glu2121fs					UBR5_ENST00000220959.4_Frame_Shift_Ins_p.R2121fs|UBR5_ENST00000521922.1_Frame_Shift_Ins_p.R2115fs	p.R2121fs	NM_015902.5	NP_056986.2	O95071	UBR5_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000442)		45	6966_6967	-	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		2121					B2RP24|J3KMW7|O94970|Q9NPL3	Frame_Shift_Ins	INS	ENST00000520539.1	37	c.6360_6361insA	CCDS34933.1																																																																																				0.381	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902		8	764						8	764	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110455173	110455174	+	Splice_Site	INS	-	-	G	rs375659563		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:110455173_110455174insG	ENST00000378402.5	+	36	4497		c.e36-1			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ATTTTATGGCAGGTTCATTTTC	0.322										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.e36-1		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1																																				SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110455173_110455174insG	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.4394-1->G	8.37:g.110455175_110455175dupG		HNSCC(38;0.096)						NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		36	4497	+								Q567P2|Q9UF27	Splice_Site	INS	ENST00000378402.5	37		CCDS47911.1																																																																																				0.322	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	Intron	10	618						10	618	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)tttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR|ATAD2_ENST00000534257.1_5'Flank	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413																																						ENST00000287394.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48						c.(1588-1590)ttfs		ATPase family, AAA domain containing 2							79.0	66.0	71.0					8																	124368685		2203	4300	6503	SO:0001589	frameshift_variant	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124368685delA	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1590delT	8.37:g.124368685delA	ENSP00000287394:p.Phe530fs					ATAD2_ENST00000521903.1_5'UTR	p.F530fs	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		13	1697	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		530					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Frame_Shift_Del	DEL	ENST00000287394.5	37	c.1590delT	CCDS6343.1																																																																																				0.413	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		9	227						9	227	---	---	---	---
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr8:133150232_133150233insT	ENST00000388996.4	-	12	2019_2020	c.1599_1600insA	c.(1597-1602)aaattcfs	p.F534fs	KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.F534fs|KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.F414fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	534					axon guidance (GO:0007411)|membrane hyperpolarization (GO:0060081)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	axon initial segment (GO:0043194)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)	p.F534I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)		Amitriptyline(DB00321)|Diclofenac(DB00586)|Ezogabine(DB04953)|Meclofenamic acid(DB00939)	GTCTCCTTGAATTTTTTTTTAT	0.455																																						ENST00000388996.4																			1	Substitution - Missense(1)	p.F534I(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70						c.(1597-1602)aatcaafs		potassium voltage-gated channel, KQT-like subfamily, member 3																																				SO:0001589	frameshift_variant	3786				axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:133150232_133150233insT	AB208890	CCDS34943.1, CCDS56554.1	8q24	2012-07-05			ENSG00000184156	ENSG00000184156		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6297	protein-coding gene	gene with protein product		602232		EBN2		9425900, 16382104	Standard	NM_004519		Approved	Kv7.3	uc003ytj.3	O43525	OTTHUMG00000137472	ENST00000388996.4:c.1600dupA	8.37:g.133150241_133150241dupT	ENSP00000373648:p.Phe534fs					KCNQ3_ENST00000521134.1_Frame_Shift_Ins_p.NQ413fs|KCNQ3_ENST00000519445.1_Frame_Shift_Ins_p.NQ533fs	p.NQ533fs	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000311)		12	2019_2020	-	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		533					A2VCT8|B4DJY4|E7EQ89	Frame_Shift_Ins	INS	ENST00000388996.4	37	c.1599_1600insA	CCDS34943.1																																																																																				0.455	KCNQ3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268621.2	NM_004519		13	829						13	829	---	---	---	---
KANK1	23189	broad.mit.edu	37	9	732475	732477	+	In_Frame_Del	DEL	GAG	GAG	-	rs569686873|rs370051574		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:732475_732477delGAG	ENST00000382303.1	+	10	3755_3757	c.3103_3105delGAG	c.(3103-3105)gagdel	p.E1039del	KANK1_ENST00000382293.3_In_Frame_Del_p.E881del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1039					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TCTTGAAGAAGAGGAGGAGGAGG	0.463																																						ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)del		KN motif and ankyrin repeat domains 1			,	16,0,4248		0,0,16,0,0,2116					,	5.3	1.0		dbSNP_132	135	3,2,8249		0,0,3,1,0,4123	no	codingComplex,codingComplex	KANK1	NM_153186.3,NM_015158.2	,	0,0,19,1,0,6239	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0606,0.3752,0.1678	,	,		19,2,12497				SO:0001651	inframe_deletion	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732475_732477delGAG	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3103_3105delGAG	9.37:g.732484_732486delGAG	ENSP00000371740:p.Glu1039del					KANK1_ENST00000382297.2_In_Frame_Del_p.E1039del|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_In_Frame_Del_p.E881del	p.E1039del	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3755_3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1039					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	In_Frame_Del	DEL	ENST00000382303.1	37	c.3103_3105delGAG	CCDS34976.1																																																																																				0.463	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		19	686						19	686	---	---	---	---
RANBP6	26953	broad.mit.edu	37	9	6012690	6012690	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:6012690delT	ENST00000259569.5	-	1	2928	c.2918delA	c.(2917-2919)aatfs	p.N973fs	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	973					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.N973fs*12(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		AGCAATGACATTTTTTTTGGT	0.358																																						ENST00000259569.5																			1	Deletion - Frameshift(1)	p.N973fs*12(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2917-2919)atfs		RAN binding protein 6							109.0	102.0	104.0					9																	6012690		2203	4300	6503	SO:0001589	frameshift_variant	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012690delT	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2918delA	9.37:g.6012690delT	ENSP00000259569:p.Asn973fs						p.N973fs	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2928	-		Acute lymphoblastic leukemia(23;0.158)	973					Q5T7X4|Q7Z3V2|Q96E78	Frame_Shift_Del	DEL	ENST00000259569.5	37	c.2918delA	CCDS6467.1																																																																																				0.358	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1	NM_012416		9	394						9	394	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:119976989_119976991delCAG	ENST00000313400.4	-	3	761_763	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del			O75129	ASTN2_HUMAN	astrotactin 2	221					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601																																						ENST00000313400.4																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						c.(661-663)del		astrotactin 2																																				SO:0001651	inframe_deletion	23245					integral to membrane		g.chr9:119976989_119976991delCAG	AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.661_663delCTG	9.37:g.119976998_119977000delCAG	ENSP00000314038:p.Leu221del					ASTN2_ENST00000373996.3_In_Frame_Del_p.L221del|ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_In_Frame_Del_p.L221del	p.L221del			O75129	ASTN2_HUMAN			3	761_763	-			221					A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	In_Frame_Del	DEL	ENST00000313400.4	37	c.661_663delCTG																																																																																					0.601	ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010		10	267						10	267	---	---	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					ENST00000298532.2																			2	Deletion - In frame(2)	p.S542delS(2)	prostate(1)|central_nervous_system(1)	biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33						c.(1624-1626)del		small nuclear RNA activating complex, polypeptide 4, 190kDa																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1992_1994	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1	NM_003086		7	90						7	90	---	---	---	---
CCDC7	79741	broad.mit.edu	37	10	33018277	33018277	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr10:33018277delA	ENST00000375030.2	+	13	1360	c.742delA	c.(742-744)aaafs	p.K250fs	C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs|C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs			Q9H943	CJ068_HUMAN		242										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						TTTAGAAATCAAAAAAAAGGA	0.323																																						ENST00000375030.2																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						c.(742-744)aafs		chromosome 10 open reading frame 68							49.0	52.0	51.0					10																	33018277		2200	4293	6493	SO:0001589	frameshift_variant	79741							g.chr10:33018277delA																												ENST00000375030.2:c.742delA	10.37:g.33018277delA	ENSP00000364170:p.Lys250fs					C10orf68_ENST00000375025.4_Frame_Shift_Del_p.K242fs|C10orf68_ENST00000375028.3_Frame_Shift_Del_p.K218fs	p.K250fs			Q9H943	CJ068_HUMAN			13	1360	+			242					B0QZ71|Q08AN7|Q8N7T7	Frame_Shift_Del	DEL	ENST00000375030.2	37	c.742delA																																																																																					0.323	C10orf68-001	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000313999.2			7	234						7	234	---	---	---	---
NLRP6	171389	broad.mit.edu	37	11	281553	281555	+	In_Frame_Del	DEL	GAG	GAG	-	rs377505007		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:281553_281555delGAG	ENST00000312165.5	+	4	1819_1821	c.1819_1821delGAG	c.(1819-1821)gagdel	p.E611del	NLRP6_ENST00000534750.1_In_Frame_Del_p.E611del	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	611	Poly-Glu.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGAAGAGCCAGAGGAGGAGGAGG	0.67																																						ENST00000534750.1																			0				breast(1)|skin(1)|upper_aerodigestive_tract(2)	4						c.(1819-1821)del		NLR family, pyrin domain containing 6																																				SO:0001651	inframe_deletion	171389					cytoplasm	ATP binding	g.chr11:281553_281555delGAG	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1819_1821delGAG	11.37:g.281562_281564delGAG	ENSP00000309767:p.Glu611del					NLRP6_ENST00000312165.5_In_Frame_Del_p.E611del	p.E611del	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	2024_2026	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	611			Poly-Glu.		A8K9F3|E9PJZ8	In_Frame_Del	DEL	ENST00000312165.5	37	c.1819_1821delGAG	CCDS7693.1																																																																																				0.670	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		9	810						9	810	---	---	---	---
FNBP4	23360	broad.mit.edu	37	11	47788664	47788669	+	In_Frame_Del	DEL	GGTGGT	GGTGGT	-	rs59413596|rs67450550|rs397711020	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:47788664_47788669delGGTGGT	ENST00000263773.5	-	1	184_189	c.172_177delACCACC	c.(172-177)accaccdel	p.TT58del	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	58						nucleus (GO:0005634)		p.T58_T59delTT(3)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						CAGTCACCGCGGTGGTGGTGGTCGTC	0.748														1722	0.34385	0.084	0.317	5008	,	,		12964	0.4345		0.4304	False		,,,				2504	0.5317					ENST00000263773.5																			3	Deletion - In frame(3)	p.T58_T59delTT(3)	prostate(1)|breast(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						c.(172-177)del		formin binding protein 4				233,2043		62,109,967						-2.3	0.0		dbSNP_130	3	1924,3380		655,614,1383	no	coding	FNBP4	NM_015308.2		717,723,2350	A1A1,A1R,RR		36.2745,10.2373,28.4565				2157,5423				SO:0001651	inframe_deletion	23360							g.chr11:47788664_47788669delGGTGGT	BC037404	CCDS41644.1	11q12.1	2008-02-05			ENSG00000109920	ENSG00000109920			19752	protein-coding gene	gene with protein product		615265				10231032	Standard	NM_015308		Approved	KIAA1014	uc009ylv.3	Q8N3X1	OTTHUMG00000166533	ENST00000263773.5:c.172_177delACCACC	11.37:g.47788670_47788675delGGTGGT	ENSP00000263773:p.Thr58_Thr59del					FNBP4_ENST00000534003.1_5'UTR	p.TT58del	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN			1	184_189	-			58					Q9H985|Q9NT81|Q9Y2L7	In_Frame_Del	DEL	ENST00000263773.5	37	c.172_177delACCACC	CCDS41644.1																																																																																				0.748	FNBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390237.3			8	18						8	18	---	---	---	---
RPS6KB2	6199	broad.mit.edu	37	11	67202460	67202460	+	Splice_Site	DEL	C	C	-	rs201485693		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr11:67202460delC	ENST00000312629.5	+	15	1314	c.1269delC	c.(1267-1269)agc>ag	p.S423fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	423	Pro-rich.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCCCCTGCAGCCCCCTCAAGT	0.657																																						ENST00000312629.5																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25						c.e15-1		ribosomal protein S6 kinase, 70kDa, polypeptide 2							66.0	75.0	72.0					11																	67202460		1928	4115	6043	SO:0001630	splice_region_variant	6199				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:67202460delC	AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1269-1C>-	11.37:g.67202460delC						AP003419.16_ENST00000535922.1_RNA	p.S423_splice	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		15	1314	+			423			Pro-rich.		B2RMZ9|B4DML8|O94809|Q9UEC1	Splice_Site	DEL	ENST00000312629.5	37	c.1268_splice	CCDS41677.1																																																																																				0.657	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395508.1	NM_003952	Frame_Shift_Del	76	1045						76	1045	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)aagfs	p.K183fs	DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(547-549)agfs		decapping mRNA 1B							190.0	184.0	186.0					12																	2064701		2203	4300	6503	SO:0001589	frameshift_variant	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064701delT	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.548delA	12.37:g.2064701delT	ENSP00000280665:p.Lys183fs					DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs	p.K183fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	627	-			183					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Frame_Shift_Del	DEL	ENST00000280665.6	37	c.548delA	CCDS31727.1																																																																																				0.378	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		8	771						8	771	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56558379	56558381	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:56558379_56558381delAGG	ENST00000267064.4	-	27	3360_3362	c.3274_3276delCCT	c.(3274-3276)cctdel	p.P1092del	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron|SMARCC2_ENST00000550164.1_In_Frame_Del_p.P1123del|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1092	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TGGATGGAGCAGGAGGAGGAGGA	0.591																																						ENST00000550164.1																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3367-3369)del		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001651	inframe_deletion	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56558379_56558381delAGG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3274_3276delCCT	12.37:g.56558388_56558390delAGG	ENSP00000267064:p.Pro1092del					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_In_Frame_Del_p.P1092del|SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000347471.4_Intron	p.P1123del			Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		28	3381_3383	-			1092	HGHHHHLPFA -> MGSPPSPVR (in Ref. 1; AAC50694).		Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	In_Frame_Del	DEL	ENST00000267064.4	37	c.3367_3369delCCT	CCDS8907.1																																																																																				0.591	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			10	248						10	248	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559113	56559113	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:56559113delG	ENST00000267064.4	-	26	3214	c.3128delC	c.(3127-3129)cctfs	p.P1043fs	SMARCC2_ENST00000394023.3_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|RP11-977G19.5_ENST00000553176.1_RNA	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1043	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			ATGGGGTCCAGGGGGGGGAAC	0.577																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3220-3222)ctfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2			,,	47,38,3933		0,0,47,2,34,1926	35.0	41.0	39.0		,,	4.5	1.0	12		38	49,80,7671		2,0,45,9,62,3782	no	codingComplex,codingComplex,codingComplex	SMARCC2	NM_139067.2,NM_003075.3,NM_001130420.1	,,	2,0,92,11,96,5708	A1A1,A1A2,A1R,A2A2,A2R,RR		1.6538,2.1155,1.8108	,,	,,	56559113	96,118,11604	2116	4167	6283	SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559113delG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3128delC	12.37:g.56559113delG	ENSP00000267064:p.Pro1043fs					RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Frame_Shift_Del_p.P1043fs|SMARCC2_ENST00000550164.1_Frame_Shift_Del_p.P1074fs|SMARCC2_ENST00000347471.4_Frame_Shift_Del_p.P1074fs	p.P1074fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3326	-			1043			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Del	DEL	ENST00000267064.4	37	c.3221delC	CCDS8907.1																																																																																				0.577	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			10	566						10	566	---	---	---	---
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:88566417delT	ENST00000266712.6	+	8	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	365					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)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1093-1095)ctfs		transmembrane and tetratricopeptide repeat containing 3				18,4246		6,6,2120	135.0	127.0	130.0			5.5	1.0	12		131	19,8235		6,7,4114	no	frameshift	TMTC3	NM_181783.3		12,13,6234	A1A1,A1R,RR		0.2302,0.4221,0.2956			88566417	37,12481	2203	4299	6502	SO:0001589	frameshift_variant	160418					integral to membrane	binding	g.chr12:88566417delT		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.1094delT	12.37:g.88566417delT	ENSP00000266712:p.Leu365fs						p.L365fs	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			8	1314	+			365					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	ENST00000266712.6	37	c.1094delT	CCDS9032.1																																																																																				0.313	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		9	652						9	652	---	---	---	---
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-	rs372337364	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606														3	0.000599042	0.0	0.0	5008	,	,		16291	0.002		0.001	False		,,,				2504	0.0					ENST00000261674.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						c.(2545-2550)gag>g		splicing factor, suppressor of white-apricot homolog (Drosophila)				79,4057		6,67,1995						5.3	1.0			83	146,7912		14,118,3897	no	coding	SFSWAP	NM_004592.2		20,185,5892	A1A1,A1R,RR		1.8119,1.9101,1.8452				225,11969				SO:0001651	inframe_deletion	6433				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding	g.chr12:132281734_132281736delAGA	U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.2546_2548delAGA	12.37:g.132281743_132281745delAGA	ENSP00000261674:p.Lys853del					SFSWAP_ENST00000539506.1_3'UTR|SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del	p.EK849del	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN			16	2687_2689	+			849			Arg/Ser-rich (RS domain).		B2RN45|B7ZM97|F5H6B8|Q6PJF7	In_Frame_Del	DEL	ENST00000261674.4	37	c.2546_2548delAGA	CCDS9273.1																																																																																				0.606	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399276.1	NM_004592		20	970						20	970	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-	rs371570689		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aaafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428																																						ENST00000281589.3																			1	Deletion - Frameshift(1)	p.F335fs*19(1)	ovary(1)	breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47						c.(997-999)aafs		poly(A) binding protein, cytoplasmic 3							162.0	159.0	160.0					13																	25671333		2203	4300	6503	SO:0001589	frameshift_variant	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671333delA	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.997delA	13.37:g.25671333delA	ENSP00000281589:p.Lys333fs						p.K333fs	NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1034	+		Lung SC(185;0.0225)|Breast(139;0.0602)	333			RRM 4.		Q8NHV0|Q9H086	Frame_Shift_Del	DEL	ENST00000281589.3	37	c.997delA	CCDS9311.1																																																																																				0.428	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		9	848						9	848	---	---	---	---
ZC3H13	23091	broad.mit.edu	37	13	46542016	46542017	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:46542016_46542017delCT	ENST00000242848.4	-	15	4291_4292	c.3943_3944delAG	c.(3943-3945)aggfs	p.R1316fs	ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs|ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1316							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		cgtatctctcctctctctctcg	0.495																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	ENST00000242848.4																			0				cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79						c.(3943-3945)gfs		zinc finger CCCH-type containing 13																																				SO:0001589	frameshift_variant	23091						nucleic acid binding|zinc ion binding	g.chr13:46542016_46542017delCT	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.3943_3944delAG	13.37:g.46542024_46542025delCT	ENSP00000242848:p.Arg1316fs					ZC3H13_ENST00000282007.3_Frame_Shift_Del_p.R1316fs|ZC3H13_ENST00000378921.2_Frame_Shift_Del_p.R272fs	p.R1316fs			Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	15	4291_4292	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	1316					A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Frame_Shift_Del	DEL	ENST00000242848.4	37	c.3943_3944delAG																																																																																					0.495	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		7	379						7	379	---	---	---	---
RBM26	64062	broad.mit.edu	37	13	79918806	79918807	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr13:79918806_79918807insT	ENST00000438737.2	-	15	2621_2622	c.2181_2182insA	c.(2179-2184)aaacagfs	p.Q728fs	RBM26_ENST00000438724.1_Frame_Shift_Ins_p.Q704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.Q701fs			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	728					mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GTACTTACCTGTTTTTTTTTCT	0.332																																						ENST00000438737.2																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						c.(2179-2184)aaaggafs		RNA binding motif protein 26																																				SO:0001589	frameshift_variant	64062				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding	g.chr13:79918806_79918807insT	AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2182dupA	13.37:g.79918815_79918815dupT	ENSP00000387531:p.Gln728fs					RBM26_ENST00000438724.1_Frame_Shift_Ins_p.G704fs|RBM26_ENST00000267229.7_Frame_Shift_Ins_p.G701fs	p.G728fs			Q5T8P6	RBM26_HUMAN		GBM - Glioblastoma multiforme(99;0.0188)	15	2621_2622	-		Acute lymphoblastic leukemia(28;0.0279)	728					B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Frame_Shift_Ins	INS	ENST00000438737.2	37	c.2181_2182insA																																																																																					0.332	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118		9	214						9	214	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20137160	20137161	+	RNA	DEL	CG	CG	-	rs373983441		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:20137160_20137161delCG	ENST00000548261.1	+	0	391																											AGAACAGCCTCGGTTTTTGCAC	0.431																																						ENST00000548261.1																			0																																																			0							g.chr14:20137160_20137161delCG																													14.37:g.20137160_20137161delCG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.431	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			9	240						9	240	---	---	---	---
TOX4	9878	broad.mit.edu	37	14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-	rs571846793		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581																																						ENST00000405508.1																			1	Substitution - coding silent(1)	p.A429A(1)	large_intestine(1)	large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(1285-1287)del		TOX high mobility group box family member 4																																				SO:0001651	inframe_deletion	9878					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	g.chr14:21961060_21961062delGCT	AB018280	CCDS32043.1	14q11.2	2007-03-20	2007-03-20	2007-03-20	ENSG00000092203	ENSG00000092203			20161	protein-coding gene	gene with protein product		614032	"""chromosome 14 open reading frame 92"", ""KIAA0737"""	C14orf92, KIAA0737			Standard	NM_014828		Approved	LCP1	uc001waz.3	O94842	OTTHUMG00000150278	ENST00000405508.1:c.1285_1287delGCT	14.37:g.21961069_21961071delGCT	ENSP00000385102:p.Ala434del					TOX4_ENST00000448790.2_In_Frame_Del_p.A411del|TOX4_ENST00000262709.3_In_Frame_Del_p.A434del	p.A434del			O94842	TOX4_HUMAN	Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)	8	1561_1563	+	all_cancers(95;0.000465)		434			Gln/Pro-rich.|Poly-Ala.		B4DPY8|B4DSM0|E7EV69	In_Frame_Del	DEL	ENST00000405508.1	37	c.1285_1287delGCT	CCDS32043.1																																																																																				0.581	TOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317287.2	NM_014828		19	1284						19	1284	---	---	---	---
ELMSAN1	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:74205926_74205928delCTG	ENST00000286523.5	-	2	1566_1568	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del|ELMSAN1_ENST00000486739.1_5'Flank	NM_194278.3	NP_919254.2	Q6PJG2	EMSA1_HUMAN	ELM2 and Myb/SANT-like domain containing 1	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTAGGgctgcctgctgctgctgc	0.65																																						ENST00000286523.5																			0											c.(784-786)del		ELM2 and Myb/SANT-like domain containing 1																																				SO:0001651	inframe_deletion	91748							g.chr14:74205926_74205928delCTG	BF971739	CCDS9819.1	14q24.3	2012-09-25	2012-09-25	2012-09-25	ENSG00000156030	ENSG00000156030			19853	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 117"", ""chromosome 14 open reading frame 43"""	C14orf117, C14orf43			Standard	NM_194278		Approved	LSR68	uc001xou.3	Q6PJG2	OTTHUMG00000150359	ENST00000286523.5:c.784_786delCAG	14.37:g.74205935_74205937delCTG	ENSP00000286523:p.Gln262del					ELMSAN1_ENST00000394071.2_In_Frame_Del_p.Q262del	p.Q262del	NM_194278.3	NP_919254.2					2	1566_1568	-								Q6PK13|Q6PK59|Q6ZS23	In_Frame_Del	DEL	ENST00000286523.5	37	c.784_786delCAG	CCDS9819.1																																																																																				0.650	ELMSAN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317793.1	NM_194278		10	197						10	197	---	---	---	---
IRF2BPL	64207	broad.mit.edu	37	14	77493647	77493648	+	In_Frame_Ins	INS	-	-	GCG	rs61991619|rs371633333	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:77493647_77493648insGCG	ENST00000238647.3	-	1	1386_1387	c.488_489insCGC	c.(487-489)gct>gcCGCt	p.163_163A>AA		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	163	Poly-Ala.				development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.A164delA(1)		endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						GTTCCACCgcagcggcggcggc	0.748																																						ENST00000238647.3																			1	Deletion - In frame(1)	p.A164delA(1)	prostate(1)	endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						c.(487-489)ggc>gCGCgc		interferon regulatory factor 2 binding protein-like																																				SO:0001652	inframe_insertion	64207					nucleus		g.chr14:77493647_77493648insGCG	AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.486_488dupCGC	14.37:g.77493654_77493656dupGCG	ENSP00000238647:p.Ala164dup						p.163_163G>AR	NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN			1	1386_1387	-			163			Poly-Ala.		Q8NDQ2|Q96JG2|Q9H3I7	In_Frame_Ins	INS	ENST00000238647.3	37	c.488_489insCGC	CCDS9854.1																																																																																				0.748	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414298.1	NM_024496		8	66						8	66	---	---	---	---
PTPN21	11099	broad.mit.edu	37	14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-	rs201949704|rs370943979		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gaggac>gac	p.E715del	PTPN21_ENST00000328736.3_In_Frame_Del_p.E715del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	715	Poly-Glu.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(2143-2148)gac>ga		protein tyrosine phosphatase, non-receptor type 21																																				SO:0001651	inframe_deletion	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945628_88945630delTCC	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.2145_2147delGGA	14.37:g.88945637_88945639delTCC	ENSP00000452414:p.Glu715del					PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2429_2431	-			717			Poly-Glu.			In_Frame_Del	DEL	ENST00000556564.1	37	c.2145_2147delGGA	CCDS9884.1																																																																																				0.704	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			13	268						13	268	---	---	---	---
EML1	2009	broad.mit.edu	37	14	100367334	100367334	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr14:100367334delT	ENST00000262233.6	+	9	1105	c.966delT	c.(964-966)ggtfs	p.G322fs	EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	322	Tandem atypical propeller in EMLs.				brain development (GO:0007420)|hematopoietic progenitor cell differentiation (GO:0002244)|microtubule cytoskeleton organization (GO:0000226)|mitotic spindle organization (GO:0007052)|neuroblast proliferation (GO:0007405)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	calcium ion binding (GO:0005509)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				TTGGAATAGGTTTTTTTGACC	0.428																																						ENST00000262233.6																			0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(964-966)ggfs		echinoderm microtubule associated protein like 1							311.0	270.0	284.0					14																	100367334		2203	4300	6503	SO:0001589	frameshift_variant	2009					cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	g.chr14:100367334delT	AK023861	CCDS32154.1, CCDS32155.1	14q32	2013-01-10		2002-02-15		ENSG00000066629		"""WD repeat domain containing"""	3330	protein-coding gene	gene with protein product		602033		EMAPL		9226380, 10521658	Standard	XM_005267397		Approved	EMAP, HuEMAP, ELP79	uc001ygr.3	O00423		ENST00000262233.6:c.966delT	14.37:g.100367334delT	ENSP00000262233:p.Gly322fs					EML1_ENST00000334192.4_Frame_Shift_Del_p.G341fs|EML1_ENST00000327921.9_Frame_Shift_Del_p.G310fs	p.G322fs	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN			9	1105	+		Melanoma(154;0.0879)|all_epithelial(191;0.216)	322					Q86U15|Q8N536|Q8N5C4|Q8WWL6	Frame_Shift_Del	DEL	ENST00000262233.6	37	c.966delT	CCDS32155.1																																																																																				0.428	EML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413943.1	NM_001008707		9	648						9	648	---	---	---	---
EMC7	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:34393991_34393993delAGC	ENST00000256545.4	-	1	156_158	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	EMC7_ENST00000532113.1_5'UTR|PGBD4_ENST00000397766.2_5'Flank	NM_020154.2	NP_064539.1	Q9NPA0	EMC7_HUMAN	ER membrane protein complex subunit 7	16						ER membrane protein complex (GO:0072546)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										ATCCCCCGATAGCAGCAGCAGCA	0.665																																						ENST00000256545.4																			0											c.(46-51)cta>ct		ER membrane protein complex subunit 7																																				SO:0001651	inframe_deletion	56851							g.chr15:34393991_34393993delAGC	AJ245874	CCDS10032.1	15q14	2012-05-30	2012-05-30	2012-05-30	ENSG00000134153	ENSG00000134153			24301	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 24"""	C15orf24		10873569, 22119785	Standard	NM_020154		Approved	C11orf3	uc001zhm.3	Q9NPA0	OTTHUMG00000129367	ENST00000256545.4:c.48_50delGCT	15.37:g.34394000_34394002delAGC	ENSP00000256545:p.Leu17del					EMC7_ENST00000532113.1_5'UTR	p.LL16del	NM_020154.2	NP_064539.1					1	156_158	-								B2RC00|Q96ED5	In_Frame_Del	DEL	ENST00000256545.4	37	c.48_50delGCT	CCDS10032.1																																																																																				0.665	EMC7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251519.1	NM_020154		10	917						10	917	---	---	---	---
SRP14	6727	broad.mit.edu	37	15	40328597	40328599	+	In_Frame_Del	DEL	TGC	TGC	-	rs371085676|rs377432895	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:40328597_40328599delTGC	ENST00000267884.6	-	5	417_419	c.346_348delGCA	c.(346-348)gcadel	p.A116del	SRP14_ENST00000560773.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14-AS1_ENST00000504245.1_lincRNA|SRP14_ENST00000558720.1_In_Frame_Del_p.A36del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN	signal recognition particle 14kDa (homologous Alu RNA binding protein)	116	Ala/Thr-rich.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|protein targeting to ER (GO:0045047)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|nucleolus (GO:0005730)|nucleus (GO:0005634)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|endoplasmic reticulum signal peptide binding (GO:0030942)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)		ctgcggcaggtgctgctgctgct	0.478																																						ENST00000267884.6																			0				endometrium(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(346-348)del		signal recognition particle 14kDa (homologous Alu RNA binding protein)																																				SO:0001651	inframe_deletion	6727				negative regulation of translational elongation|response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|endoplasmic reticulum signal peptide binding|protein binding	g.chr15:40328597_40328599delTGC		CCDS42017.1	15q22	2008-08-15	2002-08-29		ENSG00000140319	ENSG00000140319			11299	protein-coding gene	gene with protein product		600708	"""signal recognition particle 14kD (homologous Alu RNA-binding protein)"""			8196634	Standard	NM_003134		Approved	ALURBP, MGC14326	uc001zkq.2	P37108		ENST00000267884.6:c.346_348delGCA	15.37:g.40328606_40328608delTGC	ENSP00000267884:p.Ala116del					SRP14_ENST00000558720.1_In_Frame_Del_p.A36del|SRP14_ENST00000558527.1_5'UTR|SRP14_ENST00000560773.1_In_Frame_Del_p.A36del	p.A116del	NM_003134.4	NP_003125.3	P37108	SRP14_HUMAN		GBM - Glioblastoma multiforme(113;1.84e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0505)	5	417_419	-		all_cancers(109;7.56e-18)|all_epithelial(112;4.02e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	116			Ala/Thr-rich.		B5BUF5|Q6B0K5|Q96Q14	In_Frame_Del	DEL	ENST00000267884.6	37	c.346_348delGCA	CCDS42017.1																																																																																				0.478	SRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418262.2	NM_003134		11	366						11	366	---	---	---	---
FAM63B	54629	broad.mit.edu	37	15	59144132	59144134	+	In_Frame_Del	DEL	GCT	GCT	-	rs369163190		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:59144132_59144134delGCT	ENST00000559228.1	+	8	1787_1789	c.1705_1707delGCT	c.(1705-1707)gctdel	p.A574del	FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	574	Gln-rich.									central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						ACAAGCAGCAGCTGCTGCTGCTG	0.468																																						ENST00000559228.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						c.(1705-1707)del		family with sequence similarity 63, member B																																				SO:0001651	inframe_deletion	54629							g.chr15:59144132_59144134delGCT	AK075319	CCDS42046.1, CCDS45268.1	15q21.3	2005-08-09							26954	protein-coding gene	gene with protein product						10574461	Standard	NM_001040450		Approved	KIAA1164	uc002afj.3	Q8NBR6		ENST00000559228.1:c.1705_1707delGCT	15.37:g.59144141_59144143delGCT	ENSP00000452885:p.Ala574del					FAM63B_ENST00000450403.2_In_Frame_Del_p.A574del	p.A574del			Q8NBR6	FA63B_HUMAN			8	1787_1789	+			574			Gln-rich.		B2RTT8|Q9ULQ6	In_Frame_Del	DEL	ENST00000559228.1	37	c.1705_1707delGCT	CCDS42046.1																																																																																				0.468	FAM63B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416230.1	NM_019092		7	630						7	630	---	---	---	---
ARID3B	10620	broad.mit.edu	37	15	74888025	74888027	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:74888025_74888027delCAG	ENST00000346246.5	+	9	1824_1826	c.1593_1595delCAG	c.(1591-1596)gccagc>gcc	p.S537del		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	538	Ser-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcagcagcgccagcagcagcagc	0.64																																						ENST00000346246.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						c.(1591-1596)gcc>gc		AT rich interactive domain 3B (BRIGHT-like)																																				SO:0001651	inframe_deletion	10620				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr15:74888025_74888027delCAG		CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.1593_1595delCAG	15.37:g.74888034_74888036delCAG	ENSP00000343126:p.Ser537del						p.AS531del	NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN			9	1824_1826	+			532			Ser-rich.		O95443|Q59HC9|Q6P9C9	In_Frame_Del	DEL	ENST00000346246.5	37	c.1593_1595delCAG	CCDS10264.1																																																																																				0.640	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280688.2	NM_006465		10	279						10	279	---	---	---	---
CPLX3	594855	broad.mit.edu	37	15	75122558	75122560	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:75122558_75122560delGAG	ENST00000395018.4	+	3	497_499	c.340_342delGAG	c.(340-342)gagdel	p.E118del	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	118					insulin secretion (GO:0030073)|regulation of neurotransmitter secretion (GO:0046928)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)	neurotransmitter transporter activity (GO:0005326)			large_intestine(2)|lung(2)	4						GGAGGACACAGAGGAGGAGGAGG	0.616																																						ENST00000395018.4																			0				large_intestine(2)|lung(2)	4						c.(340-342)del		complexin 3				22,4242		10,2,2120						-5.3	1.0			72	52,8202		23,6,4098	no	coding	CPLX3	NM_001030005.2		33,8,6218	A1A1,A1R,RR		0.63,0.5159,0.5911				74,12444				SO:0001651	inframe_deletion	594855					cell junction|synapse	syntaxin binding	g.chr15:75122558_75122560delGAG	BC018026	CCDS32294.1	15q24.1	2005-08-09			ENSG00000213578	ENSG00000213578			27652	protein-coding gene	gene with protein product		609585				15911881	Standard	NM_001030005		Approved	CPX-III	uc002ayu.1	Q8WVH0	OTTHUMG00000142816	ENST00000395018.4:c.340_342delGAG	15.37:g.75122567_75122569delGAG	ENSP00000378464:p.Glu118del					RP11-414J4.2_ENST00000564823.1_RNA	p.E118del	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN			3	497_499	+			118					D3DW66|Q8TEM6|Q9H818	In_Frame_Del	DEL	ENST00000395018.4	37	c.340_342delGAG	CCDS32294.1																																																																																				0.616	CPLX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286402.2	NM_001030005		10	372						10	372	---	---	---	---
BLM	641	broad.mit.edu	37	15	91304138	91304139	+	Frame_Shift_Ins	INS	-	-	A	rs367543043		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:91304138_91304139insA	ENST00000355112.3	+	7	1653_1654	c.1535_1536insA	c.(1534-1539)ggaaaafs	p.GK512fs	BLM_ENST00000560509.1_Frame_Shift_Ins_p.GK512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	512	Necessary for interaction with SPIDR.				alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)	p.N515fs*16(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CCAAGACTAGGAAAAAAAAATG	0.371			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			1	Deletion - Frameshift(1)	p.N515fs*16(1)	ovary(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1534-1536)gaafs	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like																																				SO:0001589	frameshift_variant	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91304138_91304139insA	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.1544dupA	15.37:g.91304147_91304147dupA	ENSP00000347232:p.Gly512fs					BLM_ENST00000560509.1_Frame_Shift_Ins_p.E512fs	p.E512fs	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		7	1653_1654	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		512					Q52M96	Frame_Shift_Ins	INS	ENST00000355112.3	37	c.1535_1536insA	CCDS10363.1																																																																																				0.371	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			8	409						8	409	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			7	163						7	163	---	---	---	---
DNM1P46	196968	broad.mit.edu	37	15	100340123	100340125	+	RNA	DEL	AGA	AGA	-	rs368425453		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr15:100340123_100340125delAGA	ENST00000341853.1	-	0	801_803					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										AGCAGCTCCGAGAAGATGAACTC	0.611																																						ENST00000341853.1																			0																																																			0							g.chr15:100340123_100340125delAGA	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340126_100340128delAGA								NR_003260.1						0	801_803	-								Q3ZCN3	RNA	DEL	ENST00000341853.1	37																																																																																						0.611	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		21	140						21	140	---	---	---	---
EDC4	23644	broad.mit.edu	37	16	67913786	67913788	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:67913786_67913788delAGC	ENST00000358933.5	+	16	2094_2096	c.1855_1857delAGC	c.(1855-1857)agcdel	p.S629del	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	629	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		cagcagcggtagcagcagcagca	0.616																																						ENST00000358933.5																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41						c.(1855-1857)del		enhancer of mRNA decapping 4																																				SO:0001651	inframe_deletion	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913786_67913788delAGC	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1855_1857delAGC	16.37:g.67913795_67913797delAGC	ENSP00000351811:p.Ser629del						p.S629del	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2094_2096	+		Ovarian(137;0.0563)	629			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	In_Frame_Del	DEL	ENST00000358933.5	37	c.1855_1857delAGC	CCDS10849.1																																																																																				0.616	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		9	390						9	390	---	---	---	---
TERF2IP	54386	broad.mit.edu	37	16	75690204	75690206	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr16:75690204_75690206delGAA	ENST00000300086.4	+	3	992_994	c.895_897delGAA	c.(895-897)gaadel	p.E304del		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	304	Asp/Glu-rich (acidic).				negative regulation of DNA recombination at telomere (GO:0048239)|negative regulation of telomere maintenance (GO:0032205)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protection from non-homologous end joining at telomere (GO:0031848)|protein localization to chromosome, telomeric region (GO:0070198)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of transcription, DNA-templated (GO:0006355)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear chromosome (GO:0000228)|nuclear chromosome, telomeric region (GO:0000784)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						TGATgaggaggaagaagaagaag	0.424																																						ENST00000300086.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(895-897)del		telomeric repeat binding factor 2, interacting protein				1,182,4081		0,0,1,0,182,1949						-3.9	1.0			71	0,377,7877		0,0,0,1,375,3751	no	codingComplex	TERF2IP	NM_018975.3		0,0,1,1,557,5700	A1A1,A1A2,A1R,A2A2,A2R,RR		4.5675,4.2917,4.4736				1,559,11958				SO:0001651	inframe_deletion	54386				negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding	g.chr16:75690204_75690206delGAA	AK000669	CCDS32491.1	16q23.1	2012-10-03			ENSG00000166848	ENSG00000166848			19246	protein-coding gene	gene with protein product		605061				10850490	Standard	NM_018975		Approved	RAP1	uc002fet.2	Q9NYB0	OTTHUMG00000177136	ENST00000300086.4:c.895_897delGAA	16.37:g.75690213_75690215delGAA	ENSP00000300086:p.Glu304del						p.E304del	NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN			3	992_994	+			304			Asp/Glu-rich (acidic).		B4DQN4|Q4W4Y2|Q8WYZ3|Q9NWR2	In_Frame_Del	DEL	ENST00000300086.4	37	c.895_897delGAA	CCDS32491.1																																																																																				0.424	TERF2IP-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000435519.1	NM_018975		16	392						16	392	---	---	---	---
PSMB6	5694	broad.mit.edu	37	17	4700064	4700064	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:4700064delG	ENST00000270586.3	+	2	195	c.144delG	c.(142-144)ctgfs	p.L48fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	48					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)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	endopeptidase activity (GO:0004175)|threonine-type endopeptidase activity (GO:0004298)			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						GCGTGGTTCTGGGGGCGGACT	0.532																																						ENST00000270586.3																			0				endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(142-144)ctfs		proteasome (prosome, macropain) subunit, beta type, 6							160.0	163.0	162.0					17																	4700064		2203	4300	6503	SO:0001589	frameshift_variant	5694				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr17:4700064delG	BC000835	CCDS11056.1, CCDS73944.1	17p13	2004-02-18			ENSG00000142507	ENSG00000142507		"""Proteasome (prosome, macropain) subunits"""	9543	protein-coding gene	gene with protein product		600307				8066462, 1888762	Standard	NM_002798		Approved	Y, DELTA	uc002fzb.4	P28072	OTTHUMG00000090777	ENST00000270586.3:c.144delG	17.37:g.4700064delG	ENSP00000270586:p.Leu48fs						p.L48fs	NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN			2	195	+			48					Q96J55	Frame_Shift_Del	DEL	ENST00000270586.3	37	c.144delG	CCDS11056.1																																																																																				0.532	PSMB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207559.2	NM_002798		7	1204						7	1204	---	---	---	---
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgcagc>cgc	p.S1249del	RAI1_ENST00000261641.6_In_Frame_Del_p.S1249del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1249	Poly-Ser.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626																																						ENST00000353383.1																			0				breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48						c.(3730-3735)cgc>c		retinoic acid induced 1																																				SO:0001651	inframe_deletion	10743					cytoplasm|nucleus	zinc ion binding	g.chr17:17699993_17699995delGCA	AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.3731_3733delGCA	17.37:g.17700002_17700004delGCA	ENSP00000323074:p.Ser1249del					RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN		READ - Rectum adenocarcinoma(1115;0.0276)	3	4200_4202	+			1244			Poly-Ser.		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	In_Frame_Del	DEL	ENST00000353383.1	37	c.3731_3733delGCA	CCDS11188.1																																																																																				0.626	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1	NM_030665		7	271						7	271	---	---	---	---
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-	rs148510452|rs556262610	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000496847.1_Intron|TMEM99_ENST00000301665.3_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544). {ECO:0000305}.	cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547																																						ENST00000269576.5																			0				NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11						c.(70-72)del		keratin 10			,,,	689,7,3556		198,0,293,0,7,1628					,,,	3.0	0.1		dbSNP_134	51	1494,8,6750		368,0,758,0,8,2992	no	intron,intron,intron,codingComplex	KRT10,TMEM99	NM_145274.3,NM_001195387.1,NM_001195386.1,NM_000421.3	,,,	566,0,1051,0,15,4620	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2016,16.3688,17.5784	,,,	,,,		2183,15,10306				SO:0001651	inframe_deletion	3858				epidermis development		protein binding|structural constituent of epidermis	g.chr17:38978766_38978768delTCC	J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.70_72delGGA	17.37:g.38978775_38978777delTCC	ENSP00000269576:p.Gly24del					TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	p.G24del	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN			1	79_81	-		Breast(137;0.000301)	24	Missing (in Ref. 1; AAA60544).		Gly-rich.|Head.		Q14664|Q8N175	In_Frame_Del	DEL	ENST00000269576.5	37	c.70_72delGGA	CCDS11377.1																																																																																				0.547	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257875.1	NM_000421		24	222						24	222	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		16	369						16	369	---	---	---	---
BZRAP1	9256	broad.mit.edu	37	17	56387404	56387406	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:56387404_56387406delTCC	ENST00000343736.4	-	21	3976_3978	c.3813_3815delGGA	c.(3811-3816)gaggaa>gaa	p.1271_1272EE>E	BZRAP1_ENST00000268893.6_In_Frame_Del_p.1211_1212EE>E|BZRAP1_ENST00000355701.3_In_Frame_Del_p.1271_1272EE>E			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1271	Poly-Glu.					cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGctcctcttcctcctcctcct	0.586																																						ENST00000355701.3																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(3811-3816)gaa>ga		benzodiazapine receptor (peripheral) associated protein 1			,	10,0,4254		4,0,2,0,0,2126					,	-7.0	0.1			91	24,2,8228		10,0,4,0,2,4111	no	codingComplex,codingComplex	BZRAP1	NM_024418.1,NM_004758.2	,	14,0,6,0,2,6237	A1A1,A1A2,A1R,A2A2,A2R,RR		0.315,0.2345,0.2876	,	,		34,2,12482				SO:0001651	inframe_deletion	9256					mitochondrion	benzodiazepine receptor binding	g.chr17:56387404_56387406delTCC	AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.3813_3815delGGA	17.37:g.56387413_56387415delTCC	ENSP00000345824:p.Glu1274del					BZRAP1_ENST00000268893.6_In_Frame_Del_p.EE1213del|BZRAP1_ENST00000343736.4_In_Frame_Del_p.EE1273del	p.EE1273del	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN			21	4683_4685	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		1273			Poly-Glu.		O75111|Q8N5W3	In_Frame_Del	DEL	ENST00000343736.4	37	c.3813_3815delGGA	CCDS11605.1																																																																																				0.586	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443980.1	NM_004758		8	418						8	418	---	---	---	---
LRRC37A16P	651250	broad.mit.edu	37	17	66141032	66141032	+	RNA	DEL	C	C	-	rs76883902|rs370970351|rs372081386	byFrequency	TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr17:66141032delC	ENST00000590019.1	-	0	70									leucine rich repeat containing 37, member A16, pseudogene																		AAAAAAAAAACATAAGCCAAA	0.338																																						ENST00000590019.1																			0																																																			0							g.chr17:66141032delC			17q24.2	2012-10-18				ENSG00000267023			43820	pseudogene	pseudogene							Standard	NG_023507		Approved				OTTHUMG00000180160		17.37:g.66141032delC														0	70	-									RNA	DEL	ENST00000590019.1	37																																																																																						0.338	LRRC37A16P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000450078.1			10	192						10	192	---	---	---	---
STK11	6794	broad.mit.edu	37	19	1207204	1207204	+	Splice_Site	DEL	T	T	-	rs587782096|rs112235354		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:1207204delT	ENST00000326873.7	+	1	1463		c.e1+2		STK11_ENST00000585748.1_Intron	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11						activation of protein kinase activity (GO:0032147)|anoikis (GO:0043276)|autophagy (GO:0006914)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|energy reserve metabolic process (GO:0006112)|establishment of cell polarity (GO:0030010)|glucose homeostasis (GO:0042593)|Golgi localization (GO:0051645)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|positive regulation of axonogenesis (GO:0050772)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive thymic T cell selection (GO:0045059)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of protein kinase B signaling (GO:0051896)|regulation of Wnt signaling pathway (GO:0030111)|response to glucagon (GO:0033762)|response to ionizing radiation (GO:0010212)|response to lipid (GO:0033993)|small molecule metabolic process (GO:0044281)|spermatid development (GO:0007286)|T cell receptor signaling pathway (GO:0050852)|TCR signalosome assembly (GO:0036399)|tissue homeostasis (GO:0001894)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|TCR signalosome (GO:0036398)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|p53 binding (GO:0002039)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.0?(20)|p.?(3)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGAAGAAGTAAGTATGGCT	0.597		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)																												ENST00000326873.7		14	yes	Rec	yes	Peutz-Jeghers syndrome	19	19p13.3	6794	"""D, Mis, N, F, S"""	serine/threonine kinase 11 gene (LKB1)			"""E, M, O"""		"""jejunal harmartoma, ovarian, testicular, pancreatic"""	"""NSCLC, pancreatic"""		23	Whole gene deletion(20)|Unknown(3)	p.0?(20)|p.?(3)	cervix(15)|lung(4)|oesophagus(1)|ovary(1)|kidney(1)|pancreas(1)	biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328						c.e1+2		serine/threonine kinase 11							20.0	22.0	22.0					19																	1207204		1975	4132	6107	SO:0001630	splice_region_variant	6794	Peutz-Jeghers syndrome	Familial Cancer Database	PJS, Hamartous Intestinal Polyposis	anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr19:1207204delT	U63333	CCDS45896.1	19p13.3	2014-09-17	2005-12-13			ENSG00000118046			11389	protein-coding gene	gene with protein product	"""polarization-related protein LKB1"""	602216	"""serine/threonine kinase 11 (Peutz-Jeghers syndrome)"""			9425897	Standard	XM_005259617		Approved	PJS, LKB1	uc002lrl.1	Q15831		ENST00000326873.7:c.290+2T>-	19.37:g.1207204delT		TSP Lung(3;<1E-08)				STK11_ENST00000585748.1_Intron		NM_000455.4	NP_000446.1	Q15831	STK11_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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)	1	1463	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)						B2RBX7|E7EW76	Splice_Site	DEL	ENST00000326873.7	37		CCDS45896.1																																																																																				0.597	STK11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449839.3	NM_000455	Intron	15	56						15	56	---	---	---	---
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:16640581_16640583delTGC	ENST00000198939.6	-	8	1074_1076	c.1038_1040delGCA	c.(1036-1041)cagcaa>caa	p.346_347QQ>Q	CHERP_ENST00000546361.2_In_Frame_Del_p.335_336QQ>Q|CTD-3222D19.2_ENST00000409035.1_Intron					calcium homeostasis endoplasmic reticulum protein											endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.67																																						ENST00000546361.2																			0				endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						c.(1003-1008)caa>ca		calcium homeostasis endoplasmic reticulum protein																																				SO:0001651	inframe_deletion	10523				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	g.chr19:16640581_16640583delTGC	U94836	CCDS42518.1	19p13.1	2013-01-28				ENSG00000085872		"""G patch domain containing"""	16930	protein-coding gene	gene with protein product						8896557, 10794731	Standard	NM_006387		Approved	ERPROT213-21, DAN16	uc002nei.1	Q8IWX8	OTTHUMG00000169304	ENST00000198939.6:c.1038_1040delGCA	19.37:g.16640590_16640592delTGC	ENSP00000198939:p.Gln352del					CHERP_ENST00000198939.6_In_Frame_Del_p.QQ350del|CTD-3222D19.2_ENST00000409035.1_Intron	p.QQ339del	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN			8	1156_1158	-			339			Gln-rich.			In_Frame_Del	DEL	ENST00000198939.6	37	c.1005_1007delGCA																																																																																					0.670	CHERP-003	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000403372.1	NM_006387		7	180						7	180	---	---	---	---
LIPE-AS1	100996307	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-	rs142080128		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1				LIPE antisense RNA 1																		TGAGTATGTATGTGTGTGTGTG	0.505																																						ENST00000594688.1																			0																																																			0							g.chr19:43136362_43136363delTG	AK096849, BM974950		19q13.2	2013-05-21			ENSG00000213904	ENSG00000213904		"""Long non-coding RNAs"""	48589	non-coding RNA	RNA, long non-coding							Standard	NR_073179		Approved				OTTHUMG00000182815		19.37:g.43136372_43136373delTG						LIPE-AS1_ENST00000594624.2_RNA		NR_073179.1						0	1450	+									RNA	DEL	ENST00000594688.1	37																																																																																						0.505	LIPE-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000464099.1	NR_073179		7	116						7	116	---	---	---	---
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:44174235_44174237delAGC	ENST00000340093.3	-	1	265_267	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_ENST00000601723.1_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000221264.4_In_Frame_Del_p.12_13LL>L|PLAUR_ENST00000339082.3_In_Frame_Del_p.12_13LL>L	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	12					attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.66																																						ENST00000221264.4																			0				endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20						c.(34-39)ctc>ct		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)																																			SO:0001651	inframe_deletion	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44174235_44174237delAGC		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.36_38delGCT	19.37:g.44174244_44174246delAGC	ENSP00000339328:p.Leu13del					PLAUR_ENST00000339082.3_In_Frame_Del_p.LL12del|PLAUR_ENST00000601723.1_In_Frame_Del_p.LL12del|PLAUR_ENST00000340093.3_In_Frame_Del_p.LL12del	p.LL12del	NM_001005377.2	NP_001005377.1	Q03405	UPAR_HUMAN			1	462_464	-		Prostate(69;0.0153)	12					A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	In_Frame_Del	DEL	ENST00000340093.3	37	c.36_38delGCT	CCDS12628.1																																																																																				0.660	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		7	619						7	619	---	---	---	---
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:50310483_50310485delCAG	ENST00000313777.4	-	11	1343_1345	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000445575.2_Intron|AC006942.4_ENST00000600669.1_RNA	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN	fuzzy planar cell polarity protein	394	Leu-rich.				cilium assembly (GO:0042384)|embryonic body morphogenesis (GO:0010172)|embryonic skeletal system morphogenesis (GO:0048704)|establishment of planar polarity (GO:0001736)|hair follicle development (GO:0001942)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fibroblast growth factor receptor signaling pathway involved in neural plate anterior/posterior pattern formation (GO:2000314)|negative regulation of neural crest formation (GO:0090301)|neural tube closure (GO:0001843)|nonmotile primary cilium assembly (GO:0035058)|positive regulation of cilium assembly (GO:0045724)|protein transport (GO:0015031)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635																																						ENST00000313777.4																			0				endometrium(1)|lung(3)	4						c.(1180-1182)del		fuzzy planar cell polarity protein																																				SO:0001651	inframe_deletion	80199				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton		g.chr19:50310483_50310485delCAG	BC016793	CCDS12781.1, CCDS54293.1	19q13.33	2013-03-05	2013-03-05			ENSG00000010361			26219	protein-coding gene	gene with protein product		610622	"""fuzzy homolog (Drosophila)"""			21761479	Standard	NM_001171937		Approved	FLJ22688, Fy	uc002ppq.2	Q9BT04		ENST00000313777.4:c.1180_1182delCTG	19.37:g.50310492_50310494delCAG	ENSP00000313309:p.Leu394del					FUZ_ENST00000533418.1_In_Frame_Del_p.L344del|FUZ_ENST00000528094.1_In_Frame_Del_p.L358del|FUZ_ENST00000445575.2_Intron	p.L394del	NM_025129.4	NP_079405.2	Q9BT04	FUZZY_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)	11	1343_1345	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	394			Leu-rich.		B2RD86|B5MDH0|Q6PJY0|Q9H613	In_Frame_Del	DEL	ENST00000313777.4	37	c.1180_1182delCTG	CCDS12781.1																																																																																				0.635	FUZ-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393986.1	NM_025129		18	405						18	405	---	---	---	---
ACPT	93650	broad.mit.edu	37	19	51293714	51293716	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:51293714_51293716delCTG	ENST00000270593.1	+	1	43_45	c.43_45delCTG	c.(43-45)ctgdel	p.L20del	ACPT_ENST00000270594.3_In_Frame_Del_p.L20del|CTD-2568A17.8_ENST00000594114.1_RNA	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN	acid phosphatase, testicular	20						integral component of membrane (GO:0016021)	acid phosphatase activity (GO:0003993)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGACCTCTCctgctgctgctgc	0.709																																						ENST00000270593.1																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11						c.(43-45)del		acid phosphatase, testicular				168,3966		7,154,1906						-0.3	0.0			15	194,7852		8,178,3837	no	coding	ACPT	NM_033068.2		15,332,5743	A1A1,A1R,RR		2.4111,4.0639,2.9721				362,11818				SO:0001651	inframe_deletion	93650					integral to membrane	acid phosphatase activity	g.chr19:51293714_51293716delCTG	AF321918	CCDS12802.1	19q13.33	2012-10-02			ENSG00000142513	ENSG00000142513			14376	protein-coding gene	gene with protein product		606362				11414767	Standard	NM_033068		Approved		uc002pta.1	Q9BZG2		ENST00000270593.1:c.43_45delCTG	19.37:g.51293723_51293725delCTG	ENSP00000270593:p.Leu20del					ACPT_ENST00000270594.3_In_Frame_Del_p.L20del	p.L20del	NM_033068.2	NP_149059.1	Q9BZG2	PPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	43_45	+		all_neural(266;0.057)	20					C0H3P7|Q9BZG3|Q9BZG4	In_Frame_Del	DEL	ENST00000270593.1	37	c.43_45delCTG	CCDS12802.1																																																																																				0.709	ACPT-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464434.1	NM_033068		7	64						7	64	---	---	---	---
KIR3DL1	3811	broad.mit.edu	37	19	55324675	55324675	+	Intron	DEL	A	A	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr19:55324675delA	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000396284.2_Frame_Shift_Del_p.K268fs|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.M271fs*>3(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CTGGTGCTCCAAAAAAAAAGT	0.532																																						ENST00000396284.2																			1	Deletion - Frameshift(1)	p.M271fs*>3(1)	ovary(1)	NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17						c.(796-798)aafs		killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4			,,	51,3917		3,45,1936	66.0	101.0	90.0		,,	-1.0	0.0	19	dbSNP_134	94	51,8005		2,47,3979	no	frameshift,frameshift,intron	KIR2DL4	NM_002255.5,NM_001080772.1,NM_001080770.1	,,	5,92,5915	A1A1,A1R,RR		0.6331,1.2853,0.8483	,,	,,	55324675	102,11922	2077	4226	6303	SO:0001627	intron_variant	0							g.chr19:55324675delA	L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-4314A>-	19.37:g.55324675delA						KIR2DL4_ENST00000346587.4_Intron|KIR2DL4_ENST00000463062.1_3'UTR|KIR2DL4_ENST00000396293.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000359085.4_Frame_Shift_Del_p.K270fs|KIR2DL4_ENST00000357494.4_Intron|KIR2DL4_ENST00000345540.5_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron	p.K268fs						GBM - Glioblastoma multiforme(193;0.0192)	6	796	+								O43473|Q14946|Q16541	Frame_Shift_Del	DEL	ENST00000538269.1	37	c.796delA																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289		8	165						8	165	---	---	---	---
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SNORA31_ENST00000516287.1_RNA	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																						ENST00000379333.1																			1	Deletion - Frameshift(1)	p.I412fs*4(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1231-1233)ccfs		solute carrier family 23 (ascorbic acid transporter), member 2							65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850569delG	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs					SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs	p.P411fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN			12	1625	-			411					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	c.1233delC	CCDS13085.1																																																																																				0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			21	460						21	460	---	---	---	---
NCOR1P1	149934	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-	rs371146435		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1																		TCTAATGAAACCTTTAGTAGT	0.313																																						ENST00000478176.1																			0																																																			0							g.chr20:26084428delC	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084428delC								NR_003678.1						0	150	-								A2RUA0	RNA	DEL	ENST00000478176.1	37																																																																																						0.313	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			9	70						9	70	---	---	---	---
FRG1B	284802	broad.mit.edu	37	20	29628229	29628230	+	Frame_Shift_Ins	INS	-	-	A	rs373737774		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:29628229_29628230insA	ENST00000278882.3	+	6	611_612	c.231_232insA	c.(232-234)aaafs	p.K78fs	FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.K78fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.K83fs			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	78										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCACTTAGGGGAAAATGGCTTT	0.351																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(229-234)ggaaatfs																																						SO:0001589	frameshift_variant	0							g.chr20:29628229_29628230insA			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.235dupA	20.37:g.29628233_29628233dupA	ENSP00000278882:p.Lys78fs					FRG1B_ENST00000358464.4_Frame_Shift_Ins_p.N78fs|FRG1B_ENST00000439954.2_Frame_Shift_Ins_p.N83fs	p.N78fs							6	611_612	+								C4AME5	Frame_Shift_Ins	INS	ENST00000278882.3	37	c.231_232insA																																																																																					0.351	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		23	865						23	865	---	---	---	---
KCNB1	3745	broad.mit.edu	37	20	47989891	47989891	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:47989891delG	ENST00000371741.4	-	2	2372	c.2206delC	c.(2206-2208)cggfs	p.R736fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	736					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	TCAGGAGACCGGGGGGGTGTC	0.562																																						ENST00000371741.4																			0				central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53						c.(2206-2208)ggfs		potassium voltage-gated channel, Shab-related subfamily, member 1							67.0	72.0	70.0					20																	47989891		2203	4300	6503	SO:0001589	frameshift_variant	3745				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr20:47989891delG	AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.2206delC	20.37:g.47989891delG	ENSP00000360806:p.Arg736fs						p.R736fs	NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	2372	-			736					Q14193	Frame_Shift_Del	DEL	ENST00000371741.4	37	c.2206delC	CCDS13418.1																																																																																				0.562	KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975		7	575						7	575	---	---	---	---
SALL4	57167	broad.mit.edu	37	20	50408526	50408526	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:50408526delG	ENST00000217086.4	-	2	607	c.496delC	c.(496-498)cagfs	p.Q166fs	SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	166					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTTATGTCCTGGGGGGTGGGT	0.577																																						ENST00000217086.4																			0				endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	GRCh37	CM042108	SALL4	M		c.(496-498)agfs		spalt-like transcription factor 4							133.0	137.0	135.0					20																	50408526		2203	4300	6503	SO:0001589	frameshift_variant	57167				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50408526delG	AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.496delC	20.37:g.50408526delG	ENSP00000217086:p.Gln166fs					SALL4_ENST00000395997.3_Frame_Shift_Del_p.Q166fs|SALL4_ENST00000371539.3_Intron|SALL4_ENST00000483130.1_5'UTR	p.Q166fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN			2	607	-			166					A2A2D8|Q540H3|Q6Y8G6	Frame_Shift_Del	DEL	ENST00000217086.4	37	c.496delC	CCDS13438.1																																																																																				0.577	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079738.3			7	1188						7	1188	---	---	---	---
PMEPA1	56937	broad.mit.edu	37	20	56227348	56227349	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:56227348_56227349insG	ENST00000341744.3	-	4	943_944	c.624_625insC	c.(622-627)cccagcfs	p.S209fs	PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.S174fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.S159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.S159fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	209					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						GAGTTACTGCTGGGGGGGCAGG	0.683																																						ENST00000341744.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						c.(622-627)ccgcagfs		prostate transmembrane protein, androgen induced 1			,,,	19,4245		0,19,2113					,,,	5.5	1.0			31	10,8236		0,10,4113	no	frameshift,frameshift,frameshift,frameshift	PMEPA1	NM_199171.1,NM_199170.1,NM_199169.1,NM_020182.3	,,,	0,29,6226	A1A1,A1R,RR		0.1213,0.4456,0.2318	,,,	,,,		29,12481				SO:0001589	frameshift_variant	56937				androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding	g.chr20:56227348_56227349insG	AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.625dupC	20.37:g.56227355_56227355dupG	ENSP00000345826:p.Ser209fs					PMEPA1_ENST00000395816.3_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000347215.4_Frame_Shift_Ins_p.Q174fs|PMEPA1_ENST00000395814.1_Frame_Shift_Ins_p.Q159fs|PMEPA1_ENST00000265626.4_Frame_Shift_Ins_p.Q159fs	p.Q209fs	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN			4	943_944	-			209					Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Frame_Shift_Ins	INS	ENST00000341744.3	37	c.624_625insC	CCDS13463.1																																																																																				0.683	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079858.2	NM_020182		35	338						35	338	---	---	---	---
DIDO1	11083	broad.mit.edu	37	20	61537401	61537402	+	Frame_Shift_Ins	INS	-	-	T	rs140153728		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr20:61537401_61537402insT	ENST00000266070.4	-	6	1750_1751	c.1425_1426insA	c.(1423-1428)aaagagfs	p.E476fs	DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.E476fs|DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.E476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	476					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ACTGTGGTCTCTTTTTTTTCTG	0.49																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	ENST00000266070.4																			0				NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99						c.(1423-1428)aaagacfs		death inducer-obliterator 1																																				SO:0001589	frameshift_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61537401_61537402insT	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.1426dupA	20.37:g.61537409_61537409dupT	ENSP00000266070:p.Glu476fs					DIDO1_ENST00000266071.5_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395335.2_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395343.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000395340.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000354665.4_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370366.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370368.1_Frame_Shift_Ins_p.D476fs|DIDO1_ENST00000370371.4_Frame_Shift_Ins_p.D476fs	p.D476fs	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN			6	1750_1751	-	Breast(26;5.68e-08)		476					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Frame_Shift_Ins	INS	ENST00000266070.4	37	c.1425_1426insA	CCDS33506.1																																																																																				0.490	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		9	687						9	687	---	---	---	---
TRAPPC10	7109	broad.mit.edu	37	21	45472274	45472275	+	Frame_Shift_Ins	INS	-	-	A			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr21:45472274_45472275insA	ENST00000291574.4	+	4	574_575	c.399_400insA	c.(400-402)aaafs	p.K134fs	TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.K134fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	134					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)	p.K133N(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						ATGATGCCAAGAAAAAAAACAA	0.356																																						ENST00000291574.4																			1	Substitution - Missense(1)	p.K133N(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						c.(397-402)aaaaaafs		trafficking protein particle complex 10																																				SO:0001589	frameshift_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45472274_45472275insA	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.407dupA	21.37:g.45472282_45472282dupA	ENSP00000291574:p.Lys134fs					TRAPPC10_ENST00000380221.3_Frame_Shift_Ins_p.KK133fs	p.KK133fs	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN			4	574_575	+			133					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Frame_Shift_Ins	INS	ENST00000291574.4	37	c.399_400insA	CCDS13704.1																																																																																				0.356	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274		7	472						7	472	---	---	---	---
ARFGAP3	26286	broad.mit.edu	37	22	43218401	43218401	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:43218401delT	ENST00000263245.5	-	9	906	c.687delA	c.(685-687)aaafs	p.K229fs	ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	229					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CCAAACTTCCTTTTTTGGCCC	0.423																																					GBM(58;544 1030 21460 27159 48838)	ENST00000263245.5																			0				breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						c.(685-687)aafs		ADP-ribosylation factor GTPase activating protein 3							126.0	120.0	122.0					22																	43218401		2203	4300	6503	SO:0001589	frameshift_variant	26286				intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport	cytosol|Golgi membrane	ARF GTPase activator activity|protein transporter activity|zinc ion binding	g.chr22:43218401delT	AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.687delA	22.37:g.43218401delT	ENSP00000263245:p.Lys229fs					ARFGAP3_ENST00000437119.2_Frame_Shift_Del_p.K185fs|ARFGAP3_ENST00000429508.2_Frame_Shift_Del_p.K157fs	p.K229fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN			9	906	-			229					E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Del	DEL	ENST00000263245.5	37	c.687delA	CCDS14042.1																																																																																				0.423	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319747.2	NM_014570		7	722						7	722	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		8	428						8	428	---	---	---	---
AR	367	broad.mit.edu	37	X	66765159	66765164	+	In_Frame_Del	DEL	GCAGCA	GCAGCA	-	rs200185441		TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:66765159_66765164delGCAGCA	ENST00000374690.3	+	1	695_700	c.171_176delGCAGCA	c.(169-177)ctgcagcag>ctg	p.QQ78del	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_In_Frame_Del_p.QQ78del|AR_ENST00000396044.3_In_Frame_Del_p.QQ78del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	78	Gln-rich.|Modulating.|Poly-Gln.		Missing.		androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|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)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TGCTGCTGCTgcagcagcagcagcag	0.665									Androgen Insensitivity Syndrome																													ENST00000374690.3																			2	Substitution - Missense(2)	p.Q58L(2)	lung(1)|endometrium(1)	breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	GRCh37	CI065812|CM033749|CM054646	AR	I|M	rs5902610	c.(169-177)ctg>ct		androgen receptor	Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)																																			SO:0001651	inframe_deletion	367	Androgen Insensitivity Syndrome	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chrX:66765159_66765164delGCAGCA	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.171_176delGCAGCA	X.37:g.66765165_66765170delGCAGCA	ENSP00000363822:p.Gln78_Gln79del					AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_In_Frame_Del_p.LQQ57del|AR_ENST00000504326.1_In_Frame_Del_p.LQQ57del	p.LQQ57del	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN			1	695_700	+	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)	57		L -> Q (in prostate cancer).	Modulating.|Poly-Leu.		A2RUN2|B1AKD7|Q9UD95	In_Frame_Del	DEL	ENST00000374690.3	37	c.171_176delGCAGCA	CCDS14387.1																																																																																				0.665	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057007.1	NM_000044		15	149						15	149	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.					nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562																																						ENST00000370323.4																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(184-189)tgc>t		melanoma antigen family A, 10																																				SO:0001651	inframe_deletion	4109							g.chrX:151303906_151303908delAGG		CCDS14705.1	Xq28	2009-03-13			ENSG00000124260	ENSG00000124260			6797	protein-coding gene	gene with protein product	"""MAGE-10 antigen"", ""melanoma-associated antigen 10"", ""cancer/testis antigen family 1, member 10"""	300343		MAGE10		8575766	Standard	NM_001011543		Approved	MGC10599, CT1.10	uc004ffl.3	P43363	OTTHUMG00000024180	ENST00000370323.4:c.185_187delCCT	X.37:g.151303915_151303917delAGG	ENSP00000359347:p.Ser62del					RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del	p.SC62del	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386.2	P43363	MAGAA_HUMAN			4	501_503	-	Acute lymphoblastic leukemia(192;6.56e-05)		62			Poly-Ser.			In_Frame_Del	DEL	ENST00000370323.4	37	c.185_187delCCT	CCDS14705.1																																																																																				0.562	MAGEA10-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060916.3	NM_021048		9	438						9	438	---	---	---	---
ZNF185	7739	broad.mit.edu	37	X	152087570	152087572	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-IB-A6UG-01A-32D-A33T-08	TCGA-IB-A6UG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d9c69f8-3543-4192-9cc1-d843dd6cfd19	2bc45b2a-1d0c-4e9b-9d09-a72efe60fd1a	g.chrX:152087570_152087572delGAG	ENST00000370268.4	+	7	512_514	c.475_477delGAG	c.(475-477)gagdel	p.E165del	ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000535861.1_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del			O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	165	Poly-Glu.					actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGGACACCgaggaggaggagg	0.596																																						ENST00000535861.1																			0				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12						c.(475-477)del		zinc finger protein 185 (LIM domain)			,,,,,,	160,3115		6,91,57,1273,478					,,,,,,	-7.0	0.0			54	367,5848		0,178,189,2088,1494	no	coding,coding,coding,coding,coding,coding,coding	ZNF185	NM_007150.3,NM_001178113.1,NM_001178110.1,NM_001178109.1,NM_001178108.1,NM_001178107.1,NM_001178106.1	,,,,,,	6,269,246,3361,1972	A1A1,A1R,A1,RR,R		5.9051,4.8855,5.5532	,,,,,,	,,,,,,		527,8963				SO:0001651	inframe_deletion	7739					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding	g.chrX:152087570_152087572delGAG	AK056517	CCDS48184.1, CCDS55528.1, CCDS55529.1, CCDS55530.1, CCDS55531.1, CCDS55532.1, CCDS69832.1	Xq28	2012-08-08			ENSG00000147394	ENSG00000147394		"""Zinc fingers, C2H2-type"""	12976	protein-coding gene	gene with protein product		300381				9268636	Standard	NM_001178106		Approved		uc011myg.2	O15231	OTTHUMG00000024187	ENST00000370268.4:c.475_477delGAG	X.37:g.152087579_152087581delGAG	ENSP00000359291:p.Glu165del					ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del	p.E165del	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN			7	523_525	+	Acute lymphoblastic leukemia(192;6.56e-05)		165			Poly-Glu.		A4FTV3|A6NME5|B4DLE9|B7Z771|B8K2L9|B8K2M0|B8K2M1|B8K2M2|E9PFR6|F5GXF7|F5GZL4|F8W8V7|H0Y4M8|O00345|Q8N1R8|Q9NSD2	In_Frame_Del	DEL	ENST00000370268.4	37	c.475_477delGAG	CCDS48184.1																																																																																				0.596	ZNF185-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377480.1	NM_007150		7	121						7	121	---	---	---	---
