#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
C2orf42	54980	broad.mit.edu	37	2	70402827	70402827	+	Silent	SNP	A	A	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:70402827A>C	ENST00000264434.2	-	5	1396	c.1017T>G	c.(1015-1017)gtT>gtG	p.V339V	C2orf42_ENST00000420306.1_Silent_p.V339V	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	339										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						ACGAGGAAGCAACCACAGGCT	0.438																																						ENST00000264434.2																			0				endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						c.(1015-1017)gtT>gtG		chromosome 2 open reading frame 42							217.0	215.0	216.0					2																	70402827		2203	4300	6503	SO:0001819	synonymous_variant	54980							g.chr2:70402827A>C	AK000565	CCDS1899.1	2p14	2011-03-08			ENSG00000115998	ENSG00000115998			26056	protein-coding gene	gene with protein product						12477932	Standard	XM_005264389		Approved	FLJ20558	uc002sgh.3	Q9NWW7	OTTHUMG00000129642	ENST00000264434.2:c.1017T>G	2.37:g.70402827A>C						C2orf42_ENST00000420306.1_Silent_p.V339V	p.V339V	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN			5	1396	-			339					D6W5G3|Q9H629	Silent	SNP	ENST00000264434.2	37	c.1017T>G	CCDS1899.1																																																																																				0.438	C2orf42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251840.1	NM_017880		7	363	0	0	0	1	0	7	363				
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs555608997	byFrequency	TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458													N|||	1273	0.254193	0.2209	0.2378	5008	,	,		7147	0.4355		0.2455	False		,,,				2504	0.1329					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1366-1368)gtA>gtG		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828112A>G	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1368A>G	9.37:g.43828112A>G							p.V456V	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1761	+			456			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1368A>G	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	N	5.461	0.270213	0.10349	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.6	-5.2	0.02823	.	.	.	.	.	T	0.15782	0.0380	.	.	.	0.51767	P	6.499999999998174E-5	.	.	.	.	.	.	T	0.22034	-1.0228	3	.	.	.	.	0.8201	0.01109	0.4314:0.1307:0.1593:0.2786	.	.	.	.	C	505	.	.	Y	+	2	0	CNTNAP3B	43768108	0.072000	0.21174	0.010000	0.14722	0.245000	0.25701	-0.184000	0.09698	-1.395000	0.02074	-1.123000	0.02005	TAT		0.458	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	71	0	0	0	1	0	3	71				
RGPD3	653489	broad.mit.edu	37	2	107049631	107049631	+	Silent	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:107049631C>T	ENST00000409886.3	-	16	2403	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	RGPD3_ENST00000304514.7_Silent_p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	772					protein targeting to Golgi (GO:0000042)			p.A772A(4)		breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTCTGAATCCGCATTTCGCA	0.373																																						ENST00000409886.3																			4	Substitution - coding silent(4)	p.A772A(4)	kidney(2)|endometrium(2)	breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						c.(2314-2316)gcG>gcA		RANBP2-like and GRIP domain containing 3							81.0	68.0	72.0					2																	107049631		692	1590	2282	SO:0001819	synonymous_variant	653489				intracellular transport		binding	g.chr2:107049631C>T		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.2316G>A	2.37:g.107049631C>T						RGPD3_ENST00000304514.7_Silent_p.A772A	p.A772A	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN			16	2403	-			772					B8ZZM4	Silent	SNP	ENST00000409886.3	37	c.2316G>A	CCDS46379.1																																																																																				0.373	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000329975.1	XM_929931		6	423	0	0	0	1	0	6	423				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	279	0	0	0	1	0	5	279				
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	A	G	rs9424867	byFrequency	TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:145302714A>G	ENST00000369339.3	+	5	592	c.339A>G	c.(337-339)ttA>ttG	p.L113L	NBPF10_ENST00000342960.5_Silent_p.L384L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	384						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L113L(3)|p.L384L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527																																						ENST00000342960.5																			6	Substitution - coding silent(6)	p.L113L(3)|p.L384L(3)	prostate(2)|kidney(2)|central_nervous_system(2)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1150-1152)ttA>ttG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145302714A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.339A>G	1.37:g.145302714A>G						NBPF10_ENST00000369339.2_Silent_p.L113L|NBPF10_ENST00000369338.1_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR	p.L384L	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1187	+	all_hematologic(923;0.032)		384					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000369339.3	37	c.1152A>G																																																																																					0.527	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		4	68	0	0	0	1	0	4	68				
CDC23	8697	broad.mit.edu	37	5	137524750	137524750	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:137524750A>G	ENST00000394886.2	-	16	1741	c.1711T>C	c.(1711-1713)Ttt>Ctt	p.F571L		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	571					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|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 exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAGGAAAAAGGGAGCAGGC	0.532																																						ENST00000394886.2																			0				autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23						c.(1711-1713)Ttt>Ctt		cell division cycle 23							204.0	185.0	191.0					5																	137524750		2203	4300	6503	SO:0001583	missense	8697				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|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|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity	g.chr5:137524750A>G	AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1711T>C	5.37:g.137524750A>G	ENSP00000378350:p.Phe571Leu						p.F571L	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		16	1741	-			571					A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	ENST00000394886.2	37	c.1711T>C	CCDS4200.2	.	.	.	.	.	.	.	.	.	.	A	7.213	0.595865	0.13875	.	.	ENSG00000094880	ENST00000394886	T	0.40225	1.04	5.29	5.29	0.74685	.	0.117044	0.64402	D	0.000014	T	0.16085	0.0387	N	0.00926	-1.1	0.80722	D	1	B	0.14012	0.009	B	0.09377	0.004	T	0.18053	-1.0349	10	0.10111	T	0.7	-20.9996	15.3818	0.74664	1.0:0.0:0.0:0.0	.	571	Q9UJX2	CDC23_HUMAN	L	571	ENSP00000378350:F571L	ENSP00000378350:F571L	F	-	1	0	CDC23	137552649	1.000000	0.71417	0.996000	0.52242	0.358000	0.29455	4.545000	0.60698	2.225000	0.72522	0.379000	0.24179	TTT		0.532	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251275.2			3	100	0	0	0	1	0	3	100				
KHDC3L	154288	broad.mit.edu	37	6	74073506	74073506	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr6:74073506C>T	ENST00000370367.3	+	3	630	c.577C>T	c.(577-579)Cga>Tga	p.R193*		NM_001017361.2	NP_001017361.1	Q587J8	KHD3L_HUMAN	KH domain containing 3-like, subcortical maternal complex member	193							RNA binding (GO:0003723)										GGGGACCCAGCGATCCCCCGA	0.642																																						ENST00000370367.3																			0											c.(577-579)Cga>Tga		KH domain containing 3-like, subcortical maternal complex member							33.0	35.0	34.0					6																	74073506		2203	4300	6503	SO:0001587	stop_gained	154288							g.chr6:74073506C>T	AB211062	CCDS34484.1	6q13	2012-06-25	2012-06-25	2012-06-25	ENSG00000203908	ENSG00000203908			33699	protein-coding gene	gene with protein product	"""ES cell associated transcript 1"""	611687	"""chromosome 6 open reading frame 221"""	C6orf221		21885028	Standard	NM_001017361		Approved	ECAT1	uc003pgt.4	Q587J8	OTTHUMG00000015024	ENST00000370367.3:c.577C>T	6.37:g.74073506C>T	ENSP00000359392:p.Arg193*						p.R193*	NM_001017361.2	NP_001017361.1					3	630	+								B2RNW7	Nonsense_Mutation	SNP	ENST00000370367.3	37	c.577C>T	CCDS34484.1	.	.	.	.	.	.	.	.	.	.	C	12.54	1.968332	0.34754	.	.	ENSG00000203908	ENST00000370367	.	.	.	2.24	-0.834	0.10779	.	2.469680	0.01938	N	0.041696	.	.	.	.	.	.	0.43536	D	0.995827	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.1331	0.01749	0.2266:0.4045:0.2222:0.1467	.	.	.	.	X	193	.	ENSP00000359392:R193X	R	+	1	2	C6orf221	74130227	0.001000	0.12720	0.001000	0.08648	0.008000	0.06430	-1.035000	0.03564	-0.217000	0.10033	-0.229000	0.12294	CGA		0.642	KHDC3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041202.3	NM_001017361		4	74	0	0	0	1	0	4	74				
CFAP20	29105	broad.mit.edu	37	16	58149268	58149268	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:58149268G>A	ENST00000262498.3	-	4	704	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	CTB-134F13.1_ENST00000564672.1_RNA|C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1														kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCATCCAGCCGCATGGGCATG	0.532																																					Pancreas(103;1212 1612 18629 30162 52390)	ENST00000262498.3																			0				kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						c.(370-372)Cgg>Tgg		chromosome 16 open reading frame 80							180.0	157.0	165.0					16																	58149268		2198	4300	6498	SO:0001583	missense	29105				multicellular organismal development			g.chr16:58149268G>A																												ENST00000262498.3:c.370C>T	16.37:g.58149268G>A	ENSP00000262498:p.Arg124Trp					C16orf80_ENST00000562443.1_5'UTR	p.R124W	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN			4	704	-			124						Missense_Mutation	SNP	ENST00000262498.3	37	c.370C>T	CCDS10793.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.455199	0.84209	.	.	ENSG00000070761	ENST00000262498	T	0.46063	0.88	6.17	3.11	0.35812	.	0.000000	0.85682	D	0.000000	T	0.69115	0.3075	M	0.93462	3.42	0.58432	D	0.999997	D	0.76494	0.999	P	0.62382	0.901	T	0.76870	-0.2799	10	0.66056	D	0.02	-28.4036	13.7418	0.62852	0.0:0.0:0.5736:0.4264	.	124	Q9Y6A4	CP080_HUMAN	W	124	ENSP00000262498:R124W	ENSP00000262498:R124W	R	-	1	2	C16orf80	56706769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.698000	0.37794	0.443000	0.26582	0.655000	0.94253	CGG		0.532	C16orf80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257388.2			4	138	0	0	0	1	0	4	138				
MAMLD1	10046	broad.mit.edu	37	X	149631107	149631107	+	Missense_Mutation	SNP	C	C	T	rs372258309		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:149631107C>T	ENST00000370401.2	+	3	476	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	MAMLD1_ENST00000262858.5_Missense_Mutation_p.H56Y|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000468306.1_Intron			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	56					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAAGAAAGCATCAGGTAAG	0.517																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(166-168)Cat>Tat		mastermind-like domain containing 1		C	,,TYR/HIS	2,3224		0,1,1,1327,569	50.0	50.0	50.0		,,166	-0.3	0.0	X		50	0,6449		0,0,0,2334,1781	no	intron,intron,missense	MAMLD1	NM_001177465.1,NM_001177466.1,NM_005491.3	,,83	0,1,1,3661,2350	TT,TC,T,CC,C		0.0,0.062,0.0207	,,	,,56/775	149631107	2,9673	1898	4115	6013	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149631107C>T	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.166C>T	X.37:g.149631107C>T	ENSP00000359428:p.His56Tyr					MAMLD1_ENST00000468306.1_Intron|MAMLD1_ENST00000426613.2_Intron|MAMLD1_ENST00000262858.5_Missense_Mutation_p.H56Y|MAMLD1_ENST00000432680.2_Intron	p.H56Y			Q13495	MAMD1_HUMAN			3	476	+	Acute lymphoblastic leukemia(192;6.56e-05)		56					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.166C>T	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438085	0.04636	6.2E-4	0.0	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000358892;ENST00000262858	T;T	0.57907	0.37;0.37	0.938	-0.266	0.12942	.	0.258711	0.18519	U	0.138824	T	0.24005	0.0581	N	0.08118	0	0.09310	N	1	B	0.30973	0.302	B	0.27887	0.084	T	0.10590	-1.0623	10	0.52906	T	0.07	.	2.9482	0.05853	0.0:0.5283:0.0:0.4717	.	56	Q13495	MAMD1_HUMAN	Y	18;56;56;56	ENSP00000359428:H56Y;ENSP00000262858:H56Y	ENSP00000262858:H56Y	H	+	1	0	MAMLD1	149381765	0.070000	0.21116	0.006000	0.13384	0.013000	0.08279	0.113000	0.15499	-0.147000	0.11254	0.468000	0.43344	CAT		0.517	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		9	61	0	0	0	1	0	9	61				
RP11-156P1.3	0	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:45128792G>T	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							AATTCAGGTTGTCAGAATGCA	0.373																																						ENST00000575173.1																			0																																																			0							g.chr17:45128792G>T																													17.37:g.45128792G>T														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.373	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	77	1	0	0.004672	1	0.00506962	3	77				
SHROOM2	357	broad.mit.edu	37	X	9841718	9841718	+	Silent	SNP	G	G	A	rs139542964		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:9841718G>A	ENST00000380913.3	+	2	282	c.192G>A	c.(190-192)gcG>gcA	p.A64A	Y_RNA_ENST00000384117.1_RNA	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	64	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AAGCCGCGGCGGTCGACAAGT	0.537											OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	0.0008	0.0	3775	,	,		14710	0.0		0.0	False		,,,				2504	0.0					ENST00000380913.3																			0				breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57						c.(190-192)gcG>gcA		shroom family member 2		G		1,3834		0,1,1631,571	98.0	87.0	90.0		192	-10.5	0.0	X	dbSNP_134	90	0,6728		0,0,2428,1872	no	coding-synonymous	SHROOM2	NM_001649.2		0,1,4059,2443	AA,AG,GG,G		0.0,0.0261,0.0095		64/1617	9841718	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	357				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity	g.chrX:9841718G>A	X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.192G>A	X.37:g.9841718G>A			OREG0019659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	660		p.A64A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN			2	282	+		Hepatocellular(5;0.000888)	64			PDZ.		B9EIQ7	Silent	SNP	ENST00000380913.3	37	c.192G>A	CCDS14135.1																																																																																				0.537	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055721.1	NM_001649		6	134	0	0	0	1	0	6	134				
KIAA0513	9764	broad.mit.edu	37	16	85100875	85100875	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:85100875G>C	ENST00000566428.1	+	2	829	c.198G>C	c.(196-198)tgG>tgC	p.W66C	KIAA0513_ENST00000258180.3_Missense_Mutation_p.W66C|KIAA0513_ENST00000567328.1_Missense_Mutation_p.W66C|KIAA0513_ENST00000538274.1_Missense_Mutation_p.W66C			O60268	K0513_HUMAN	KIAA0513	66						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		ACCCGTCCTGGGACCAAGACC	0.617																																						ENST00000566428.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18						c.(196-198)tgG>tgC		KIAA0513							66.0	51.0	56.0					16																	85100875		2199	4300	6499	SO:0001583	missense	9764					cytoplasm		g.chr16:85100875G>C	AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.198G>C	16.37:g.85100875G>C	ENSP00000457408:p.Trp66Cys					KIAA0513_ENST00000258180.3_Missense_Mutation_p.W66C|KIAA0513_ENST00000538274.1_Missense_Mutation_p.W66C|KIAA0513_ENST00000567328.1_Missense_Mutation_p.W66C	p.W66C			O60268	K0513_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.234)	2	829	+			66					B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	ENST00000566428.1	37	c.198G>C	CCDS32499.1	.	.	.	.	.	.	.	.	.	.	G	16.85	3.237546	0.58886	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35789	1.29;1.29	4.54	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.59959	0.2232	M	0.72894	2.215	0.58432	D	0.999996	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.65500	-0.6153	10	0.87932	D	0	-18.6828	16.2567	0.82522	0.0:0.0:1.0:0.0	.	66;66	B4DSS5;O60268	.;K0513_HUMAN	C	66	ENSP00000446439:W66C;ENSP00000258180:W66C	ENSP00000258180:W66C	W	+	3	0	KIAA0513	83658376	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.597000	0.67577	2.234000	0.73211	0.561000	0.74099	TGG		0.617	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432736.1	NM_014732		5	69	0	0	0	1	0	5	69				
TEKT4P2	100132288	broad.mit.edu	37	21	9907198	9907198	+	RNA	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr21:9907198C>T	ENST00000416067.1	-	0	1594					NR_037872.1|NR_038327.1				tektin 4 pseudogene 2																		GTGCAGAAAGCTAACGCACTG	0.592																																						ENST00000416067.1																			0																																																			0							g.chr21:9907198C>T			21p11.2	2012-10-03	2011-06-14	2011-06-14	ENSG00000188681	ENSG00000188681			40046	pseudogene	pseudogene			"""MAFF interacting protein-like"""	MAFIPL			Standard	NR_038327		Approved		uc021wgx.1		OTTHUMG00000172149		21.37:g.9907198C>T								NR_037872.1|NR_038327.1						0	1594	-									RNA	SNP	ENST00000416067.1	37																																																																																						0.592	TEKT4P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417115.1	NM_001033515		3	22	0	0	0	1	0	3	22				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		5	92	0	0	0	1	0	5	92				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	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		4	115	0	0	0	1	0	4	115				
ASH1L	55870	broad.mit.edu	37	1	155491013	155491013	+	Missense_Mutation	SNP	G	G	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:155491013G>A	ENST00000368346.3	-	2	937	c.298C>T	c.(298-300)Cca>Tca	p.P100S	ASH1L_ENST00000548830.1_Missense_Mutation_p.P100S|ASH1L_ENST00000392403.3_Missense_Mutation_p.P100S			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	100					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGTTCTTTGGAGGTTTTTTA	0.373																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(298-300)Cca>Tca		ash1 (absent, small, or homeotic)-like (Drosophila)							165.0	169.0	168.0					1																	155491013		2202	4300	6502	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155491013G>A	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.298C>T	1.37:g.155491013G>A	ENSP00000357330:p.Pro100Ser					ASH1L_ENST00000548830.1_Missense_Mutation_p.P100S|ASH1L_ENST00000392403.3_Missense_Mutation_p.P100S	p.P100S			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		2	937	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		100					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.298C>T		.	.	.	.	.	.	.	.	.	.	G	23.1	4.369528	0.82463	.	.	ENSG00000116539	ENST00000368346;ENST00000392403;ENST00000548830	D;D	0.98437	-4.93;-4.93	5.89	4.97	0.65823	.	0.168795	0.41605	D	0.000846	D	0.93510	0.7929	L	0.27053	0.805	0.58432	D	0.999998	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	D	0.91257	0.5034	10	0.87932	D	0	.	14.436	0.67282	0.071:0.0:0.929:0.0	.	100;100	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	S	100	ENSP00000357330:P100S;ENSP00000376204:P100S	ENSP00000357330:P100S	P	-	1	0	ASH1L	153757637	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.926000	0.92839	1.489000	0.48450	0.557000	0.71058	CCA		0.373	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		6	220	0	0	0	1	0	6	220				
DPY19L2P2	349152	broad.mit.edu	37	7	102825947	102825947	+	RNA	SNP	A	A	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:102825947A>G	ENST00000312132.4	-	0	3750							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCTTGACACTTGCCATTG	0.373																																						ENST00000312132.4																			0																																																			0							g.chr7:102825947A>G	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.102825947A>G														0	3750	-								Q8N9V4|Q8ND62	RNA	SNP	ENST00000312132.4	37																																																																																						0.373	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		4	91	0	0	0	1	0	4	91				
THSD7B	80731	broad.mit.edu	37	2	138414527	138414527	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:138414527C>T	ENST00000409968.1	+	23	4445	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1395C|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1426C			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1425	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCTAGAAACACGCCCTTGTAC	0.408																																						ENST00000409968.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4267-4269)Cgc>Tgc		thrombospondin, type I, domain containing 7B							128.0	128.0	128.0					2																	138414527		1845	4096	5941	SO:0001583	missense	80731							g.chr2:138414527C>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4267C>T	2.37:g.138414527C>T	ENSP00000387145:p.Arg1423Cys					THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.R1426C|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1395C	p.R1423C						BRCA - Breast invasive adenocarcinoma(221;0.19)	23	4445	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4267C>T		.	.	.	.	.	.	.	.	.	.	C	22.0	4.237263	0.79800	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.56611	0.45;0.45;0.45	6.17	5.25	0.73442	.	0.106913	0.64402	D	0.000007	T	0.71634	0.3363	M	0.72894	2.215	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.73427	-0.3986	10	0.87932	D	0	.	16.4205	0.83757	0.132:0.868:0.0:0.0	.	1395	C9JKN6	.	C	1423;1426;1395	ENSP00000387145:R1423C;ENSP00000272643:R1426C;ENSP00000413841:R1395C	ENSP00000272643:R1426C	R	+	1	0	THSD7B	138130997	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.200000	0.42724	2.941000	0.99782	0.655000	0.94253	CGC		0.408	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		23	215	0	0	0	1	0	23	215				
VDAC3	7419	broad.mit.edu	37	8	42259489	42259489	+	Silent	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:42259489C>T	ENST00000022615.4	+	7	575	c.507C>T	c.(505-507)ttC>ttT	p.F169F	VDAC3_ENST00000521158.1_Silent_p.F170F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000392935.3_Silent_p.F170F			Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	169					adenine transport (GO:0015853)	extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|pore complex (GO:0046930)	nucleotide binding (GO:0000166)|porin activity (GO:0015288)|voltage-gated anion channel activity (GO:0008308)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AGAATAATTTCGCCCTGGGTT	0.463																																						ENST00000392935.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						c.(508-510)ttC>ttT		voltage-dependent anion channel 3	Dihydroxyaluminium(DB01375)						73.0	71.0	71.0					8																	42259489		2203	4300	6503	SO:0001819	synonymous_variant	7419				adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity	g.chr8:42259489C>T	AF038962	CCDS6131.1, CCDS47850.1	8p11.21	2011-11-15			ENSG00000078668	ENSG00000078668		"""Voltage-dependent anion channels"""	12674	protein-coding gene	gene with protein product		610029				9653160, 9781040	Standard	NM_001135694		Approved	HD-VDAC3	uc003xpc.3	Q9Y277	OTTHUMG00000164168	ENST00000022615.4:c.507C>T	8.37:g.42259489C>T						VDAC3_ENST00000022615.4_Silent_p.F169F|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Silent_p.F170F	p.F170F	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		7	653	+	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	169					Q9UIS0	Silent	SNP	ENST00000022615.4	37	c.510C>T	CCDS6131.1																																																																																				0.463	VDAC3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000377574.1			4	77	0	0	0	1	0	4	77				
RP11-156P1.3	0	broad.mit.edu	37	17	45128742	45128742	+	RNA	SNP	T	T	G	rs34655963	byFrequency	TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:45128742T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							TAATGATTTTTATTATACTTT	0.328													g|||	2160	0.43131	0.3593	0.4986	5008	,	,		16551	0.3482		0.4861	False		,,,				2504	0.5102					ENST00000575173.1																			0																																																			0							g.chr17:45128742T>G																													17.37:g.45128742T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.328	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			7	148	0	0	0	1	0	7	148				
MDGA2	161357	broad.mit.edu	37	14	47426730	47426730	+	Missense_Mutation	SNP	G	G	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr14:47426730G>C	ENST00000399232.2	-	9	2093	c.1729C>G	c.(1729-1731)Cgc>Ggc	p.R577G	MDGA2_ENST00000426342.1_Missense_Mutation_p.R348G|MDGA2_ENST00000439988.3_Missense_Mutation_p.R646G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R348G|SNORA25_ENST00000515926.1_RNA	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	577	Ig-like 6.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTGCCCAAGCGCCACTCATAG	0.453																																						ENST00000426342.1																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						c.(1042-1044)Cgc>Ggc		MAM domain containing glycosylphosphatidylinositol anchor 2							94.0	95.0	95.0					14																	47426730		1976	4158	6134	SO:0001583	missense	161357				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		g.chr14:47426730G>C	AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.1729C>G	14.37:g.47426730G>C	ENSP00000382178:p.Arg577Gly					MDGA2_ENST00000439988.2_Missense_Mutation_p.R577G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R348G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R646G	p.R348G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN			9	1788	-			577			Ig-like 4.		F6W3S7|J3KPX6	Missense_Mutation	SNP	ENST00000399232.2	37	c.1042C>G		.	.	.	.	.	.	.	.	.	.	G	17.09	3.301563	0.60195	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.13420	2.59;2.59;2.59;2.59	5.54	4.62	0.57501	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.50627	U	0.000105	T	0.22513	0.0543	L	0.40543	1.245	0.80722	D	1	P;P	0.38300	0.626;0.54	P;P	0.50659	0.515;0.647	T	0.00807	-1.1558	10	0.54805	T	0.06	.	14.5333	0.67942	0.0:0.0:0.8532:0.1468	.	348;577	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	577;348;646;348	ENSP00000400011:R577G;ENSP00000405456:R348G;ENSP00000382178:R646G;ENSP00000349925:R348G	ENSP00000349925:R348G	R	-	1	0	MDGA2	46496480	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.186000	0.50942	2.606000	0.88127	0.650000	0.86243	CGC		0.453	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000073352.5	NM_182830		5	125	0	0	0	1	0	5	125				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	171	0	0	0	1	0	3	171				
PTPRZ1	5803	broad.mit.edu	37	7	121652207	121652207	+	Missense_Mutation	SNP	A	A	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:121652207A>G	ENST00000393386.2	+	12	3518	c.3107A>G	c.(3106-3108)gAt>gGt	p.D1036G	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1036					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GTGTTTGGTGATGATAATAAG	0.363																																						ENST00000393386.2																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						c.(3106-3108)gAt>gGt		protein tyrosine phosphatase, receptor-type, Z polypeptide 1							88.0	90.0	89.0					7																	121652207		2203	4300	6503	SO:0001583	missense	5803				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	g.chr7:121652207A>G	M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3107A>G	7.37:g.121652207A>G	ENSP00000377047:p.Asp1036Gly					PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	p.D1036G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN			12	3518	+			1036					A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	c.3107A>G	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	9.171	1.021190	0.19433	.	.	ENSG00000106278	ENST00000393386	T	0.54071	0.59	5.41	3.03	0.35002	.	0.237120	0.37095	N	0.002257	T	0.45013	0.1321	M	0.67953	2.075	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.34700	-0.9818	10	0.44086	T	0.13	.	4.319	0.11007	0.6408:0.0:0.2229:0.1363	.	1036	P23471	PTPRZ_HUMAN	G	1036	ENSP00000377047:D1036G	ENSP00000377047:D1036G	D	+	2	0	PTPRZ1	121439443	1.000000	0.71417	0.867000	0.34043	0.996000	0.88848	3.245000	0.51407	0.361000	0.24292	0.528000	0.53228	GAT		0.363	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1	NM_002851		4	120	0	0	0	1	0	4	120				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	285	0	0	0	1	0	5	285				
ZNF610	162963	broad.mit.edu	37	19	52869879	52869879	+	Silent	SNP	C	C	A	rs139676524		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr19:52869879C>A	ENST00000403906.3	+	6	1704	c.1248C>A	c.(1246-1248)acC>acA	p.T416T	ZNF610_ENST00000601151.1_Silent_p.T373T|ZNF610_ENST00000321287.8_Silent_p.T416T|ZNF610_ENST00000327920.8_Silent_p.T416T	NM_001161425.1	NP_001154897.1	Q8N9Z0	ZN610_HUMAN	zinc finger protein 610	416					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)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TATACCTAACCAACCATCAGA	0.423																																						ENST00000601151.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34						c.(1117-1119)acC>acA		zinc finger protein 610							61.0	58.0	59.0					19																	52869879		2203	4300	6503	SO:0001819	synonymous_variant	162963				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52869879C>A	AK093359	CCDS12851.1, CCDS54309.1	19q13.41	2013-01-08			ENSG00000167554	ENSG00000167554		"""Zinc fingers, C2H2-type"", ""-"""	26687	protein-coding gene	gene with protein product						12477932	Standard	NM_001161425		Approved	FLJ36040	uc002pyx.4	Q8N9Z0		ENST00000403906.3:c.1248C>A	19.37:g.52869879C>A						ZNF610_ENST00000327920.8_Silent_p.T416T|ZNF610_ENST00000321287.8_Silent_p.T416T|ZNF610_ENST00000403906.3_Silent_p.T416T	p.T373T	NM_001161427.1	NP_001154899.1	Q8N9Z0	ZN610_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)	5	1571	+			416					A8K4C3|Q86YH8|Q8NDS9	Silent	SNP	ENST00000403906.3	37	c.1119C>A	CCDS12851.1																																																																																				0.423	ZNF610-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462880.1	NM_173530		3	86	1	0	1	1	1	3	86				
SLC2A14	144195	broad.mit.edu	37	12	7984255	7984255	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:7984255C>T	ENST00000543909.1	-	9	1045	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SLC2A14_ENST00000431042.2_Missense_Mutation_p.V73I|SLC2A14_ENST00000539924.1_Missense_Mutation_p.V111I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V96I|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V73I|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	96					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		ATACCCCCGACGGAAAATATG	0.493											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000543909.1																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38						c.(286-288)Gtc>Atc		solute carrier family 2 (facilitated glucose transporter), member 14							107.0	99.0	102.0					12																	7984255		2203	4300	6503	SO:0001583	missense	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7984255C>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.286G>A	12.37:g.7984255C>T	ENSP00000440480:p.Val96Ile		OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	645	SLC2A14_ENST00000539924.1_Missense_Mutation_p.V111I|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000431042.2_Missense_Mutation_p.V73I|SLC2A14_ENST00000542546.1_Intron|SLC2A14_ENST00000340749.5_Missense_Mutation_p.V73I|SLC2A14_ENST00000396589.2_Missense_Mutation_p.V96I|SLC2A14_ENST00000535295.1_Intron	p.V96I			Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	9	1045	-			96					B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Missense_Mutation	SNP	ENST00000543909.1	37	c.286G>A	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	T	8.369	0.834898	0.16820	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000539924;ENST00000546234;ENST00000542782;ENST00000535344;ENST00000537557;ENST00000535266;ENST00000542916	T;T;T;T;T;T;T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88;-0.88	3.6	1.71	0.24356	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.126644	0.52532	N	0.000067	T	0.63757	0.2538	L	0.49778	1.585	0.58432	D	0.999999	B;B;B	0.21071	0.029;0.009;0.051	B;B;B	0.24701	0.055;0.016;0.05	T	0.48779	-0.9005	10	0.13853	T	0.58	.	9.232	0.37444	0.0:0.78:0.0:0.22	.	111;73;96	B7ZAC3;Q8TDB8-2;Q8TDB8	.;.;GTR14_HUMAN	I	73;96;73;96;111;73;73;73;96;96;73	ENSP00000340450:V73I;ENSP00000440480:V96I;ENSP00000407287:V73I;ENSP00000379834:V96I;ENSP00000445929:V111I;ENSP00000440043:V73I;ENSP00000438312:V73I;ENSP00000443217:V73I;ENSP00000440044:V96I;ENSP00000437653:V96I;ENSP00000442402:V73I	ENSP00000340450:V73I	V	-	1	0	SLC2A14	7875522	0.947000	0.32204	0.339000	0.25562	0.277000	0.26821	2.122000	0.41987	-0.107000	0.12088	-0.889000	0.02933	GTC		0.493	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449		7	134	0	0	0	1	0	7	134				
FEM1A	55527	broad.mit.edu	37	19	4793724	4793724	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr19:4793724C>A	ENST00000269856.3	+	1	1997	c.1858C>A	c.(1858-1860)Ctg>Atg	p.L620M	AC005523.3_ENST00000598782.1_lincRNA|AC005523.2_ENST00000596170.1_RNA|AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	620					negative regulation of inflammatory response (GO:0050728)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)	EP4 subtype prostaglandin E2 receptor binding (GO:0031867)|ubiquitin-protein transferase activity (GO:0004842)	p.L620M(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		GGCCTACGAGCTGCTGGACGA	0.607																																						ENST00000269856.3																			1	Substitution - Missense(1)	p.L620M(1)	prostate(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(1858-1860)Ctg>Atg		fem-1 homolog a (C. elegans)							48.0	43.0	45.0					19																	4793724		2203	4300	6503	SO:0001583	missense	55527				regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity	g.chr19:4793724C>A	BC004988	CCDS12135.1	19p13.3	2013-01-10	2006-11-08		ENSG00000141965	ENSG00000141965		"""Ankyrin repeat domain containing"""	16934	protein-coding gene	gene with protein product		613538				11441184	Standard	NM_018708		Approved		uc002mbf.3	Q9BSK4		ENST00000269856.3:c.1858C>A	19.37:g.4793724C>A	ENSP00000269856:p.Leu620Met					AC005523.2_ENST00000601192.1_RNA	p.L620M	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)	1	1997	+		Hepatocellular(1079;0.137)	620					B2RDI3|Q711P8|Q9NPN7|Q9NPW8	Missense_Mutation	SNP	ENST00000269856.3	37	c.1858C>A	CCDS12135.1	.	.	.	.	.	.	.	.	.	.	C	15.31	2.794270	0.50102	.	.	ENSG00000141965	ENST00000269856	T	0.73152	-0.72	4.92	3.89	0.44902	Ankyrin repeat-containing domain (2);	0.000000	0.56097	U	0.000025	T	0.77157	0.4089	L	0.55103	1.725	0.53005	D	0.999962	D	0.71674	0.998	D	0.69654	0.965	T	0.75196	-0.3403	10	0.41790	T	0.15	-11.1696	9.4444	0.38688	0.0:0.8375:0.0:0.1625	.	620	Q9BSK4	FEM1A_HUMAN	M	620	ENSP00000269856:L620M	ENSP00000269856:L620M	L	+	1	2	FEM1A	4744724	1.000000	0.71417	1.000000	0.80357	0.828000	0.46876	2.093000	0.41710	1.061000	0.40601	0.491000	0.48974	CTG		0.607	FEM1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459000.1			5	60	1	0	1	1	1	5	60				
DHX37	57647	broad.mit.edu	37	12	125459964	125459964	+	Splice_Site	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:125459964C>T	ENST00000308736.2	-	6	1079		c.e6+1		DHX37_ENST00000544745.1_Splice_Site	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37								ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		AGAGCCCTCACCGCTGGGACA	0.652																																						ENST00000308736.2																			0				breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65						c.e6+1		DEAH (Asp-Glu-Ala-His) box polypeptide 37							86.0	67.0	74.0					12																	125459964		2203	4300	6503	SO:0001630	splice_region_variant	57647						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	g.chr12:125459964C>T	AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.980+1G>A	12.37:g.125459964C>T						DHX37_ENST00000544745.1_Splice_Site		NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)	6	1079	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)							Q9BUI7|Q9P211	Splice_Site	SNP	ENST00000308736.2	37		CCDS9261.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.350648	0.82132	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	.	.	.	5.03	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1377	0.81497	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DHX37	124025917	1.000000	0.71417	0.996000	0.52242	0.902000	0.53008	6.225000	0.72271	2.333000	0.79357	0.579000	0.79373	.		0.652	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_032656	Intron	7	118	0	0	0	1	0	7	118				
LOC645752	645752	broad.mit.edu	37	15	78211648	78211648	+	lincRNA	SNP	A	A	G	rs577974396	byFrequency	TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr15:78211648A>G	ENST00000565869.1	+	0	111				RN7SL214P_ENST00000487317.2_RNA|RP11-114H24.2_ENST00000567226.1_RNA																							CGCCAGGGATAGGGGCTCAGC	0.522																																						ENST00000565869.1																			0																																																			0							g.chr15:78211648A>G																													15.37:g.78211648A>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.522	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			4	90	0	0	0	1	0	4	90				
GALNT10	55568	broad.mit.edu	37	5	153789197	153789197	+	Missense_Mutation	SNP	G	G	A	rs369435277		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr5:153789197G>A	ENST00000297107.6	+	9	1398	c.1261G>A	c.(1261-1263)Gca>Aca	p.A421T	GALNT10_ENST00000377657.3_Missense_Mutation_p.A94T|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.A359T|SAP30L-AS1_ENST00000524264.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	polypeptide N-acetylgalactosaminyltransferase 10	421					cellular protein metabolic process (GO:0044267)|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)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			tggggatgtcgcagtccagaa	0.542																																						ENST00000297107.6																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32						c.(1261-1263)Gca>Aca		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)		G	THR/ALA	0,4406		0,0,2203	99.0	106.0	104.0		1261	-2.3	0.0	5		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT10	NM_198321.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	421/604	153789197	1,13005	2203	4300	6503	SO:0001583	missense	55568					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr5:153789197G>A	AK023782	CCDS4325.1	5q34	2014-03-13	2014-03-13		ENSG00000164574	ENSG00000164574	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19873	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 10"""	608043	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)"""			12417297	Standard	NM_198321		Approved	GalNAc-T10	uc003lvh.3	Q86SR1	OTTHUMG00000130145	ENST00000297107.6:c.1261G>A	5.37:g.153789197G>A	ENSP00000297107:p.Ala421Thr					SAP30L-AS1_ENST00000524264.1_RNA|GALNT10_ENST00000377661.2_Missense_Mutation_p.A359T|SAP30L-AS1_ENST00000519727.1_RNA|GALNT10_ENST00000377657.3_Missense_Mutation_p.A94T	p.A421T	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)		9	1398	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	421					B3KXC9|Q6IN56|Q86VP8|Q8IXJ2|Q8TEJ2|Q96IV2|Q9H8E1|Q9Y4M4	Missense_Mutation	SNP	ENST00000297107.6	37	c.1261G>A	CCDS4325.1	.	.	.	.	.	.	.	.	.	.	G	0.097	-1.158273	0.01686	0.0	1.16E-4	ENSG00000164574	ENST00000297107;ENST00000377661;ENST00000377657	T;T;T	0.63744	-0.06;-0.06;1.54	5.08	-2.35	0.06684	.	0.571807	0.20093	N	0.099400	T	0.22936	0.0554	N	0.01081	-1.03	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.0	T	0.26189	-1.0110	10	0.21014	T	0.42	.	5.5526	0.17099	0.2971:0.0:0.489:0.2139	.	359;92;421	Q86SR1-2;D6R8Y1;Q86SR1	.;.;GLT10_HUMAN	T	421;359;94	ENSP00000297107:A421T;ENSP00000366889:A359T;ENSP00000366885:A94T	ENSP00000297107:A421T	A	+	1	0	GALNT10	153769390	0.003000	0.15002	0.000000	0.03702	0.163000	0.22366	0.646000	0.24797	-0.385000	0.07833	-0.254000	0.11334	GCA		0.542	GALNT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252453.1	NM_198321		5	192	0	0	0	1	0	5	192				
GRIA4	2893	broad.mit.edu	37	11	105845050	105845050	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr11:105845050C>T	ENST00000530497.1	+	15	2423	c.2423C>T	c.(2422-2424)gCc>gTc	p.A808V	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.A808V|GRIA4_ENST00000282499.5_Missense_Mutation_p.A808V|GRIA4_ENST00000393127.2_Missense_Mutation_p.A808V|RNU6-277P_ENST00000516272.1_RNA			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	808					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		AAGACGAGTGCCTTGAGCCTG	0.463																																						ENST00000393127.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2422-2424)gCc>gTc		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						176.0	164.0	168.0					11																	105845050		2201	4299	6500	SO:0001583	missense	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105845050C>T	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2423C>T	11.37:g.105845050C>T	ENSP00000435775:p.Ala808Val					GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Missense_Mutation_p.A808V|GRIA4_ENST00000525187.1_Missense_Mutation_p.A808V|GRIA4_ENST00000282499.5_Missense_Mutation_p.A808V	p.A808V	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	16	2869	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	808					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2423C>T	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	C	33	5.210376	0.95069	.	.	ENSG00000152578	ENST00000282499;ENST00000393127;ENST00000530497;ENST00000525187	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.82	5.82	0.92795	Ionotropic glutamate receptor (1);	0.000000	0.64402	D	0.000003	T	0.72510	0.3469	M	0.64170	1.965	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.976;0.998	T	0.73275	-0.4034	10	0.87932	D	0	.	20.0966	0.97849	0.0:1.0:0.0:0.0	.	808;808	P48058;G3V164	GRIA4_HUMAN;.	V	808	ENSP00000282499:A808V;ENSP00000376835:A808V;ENSP00000435775:A808V;ENSP00000432180:A808V	ENSP00000282499:A808V	A	+	2	0	GRIA4	105350260	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.792000	0.85828	2.751000	0.94390	0.650000	0.86243	GCC		0.463	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			4	195	0	0	0	1	0	4	195				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		3	69	0	0	0	1	0	3	69				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		18	113	0	0	0	1	0	18	113				
GOLGA2P5	55592	broad.mit.edu	37	12	100559710	100559710	+	RNA	SNP	T	T	G			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:100559710T>G	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						CAGAGGCTGGTGCCCGCCTTC	0.602																																						ENST00000397112.4																			0				large_intestine(1)|lung(3)	4																																														0							g.chr12:100559710T>G																													12.37:g.100559710T>G								NR_036632.1						0	599	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.602	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			7	10	0	0	0	1	0	7	10				
OAS2	4939	broad.mit.edu	37	12	113447028	113447028	+	Missense_Mutation	SNP	C	C	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr12:113447028C>A	ENST00000342315.4	+	10	2246	c.2032C>A	c.(2032-2034)Cca>Aca	p.P678T	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.P678T	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	678	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AAACCCAATACCACCTTGGAA	0.493																																					Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(2032-2034)Cca>Aca		2'-5'-oligoadenylate synthetase 2, 69/71kDa							212.0	208.0	209.0					12																	113447028		2203	4300	6503	SO:0001583	missense	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113447028C>A	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.2032C>A	12.37:g.113447028C>A	ENSP00000342278:p.Pro678Thr					OAS2_ENST00000342315.4_Missense_Mutation_p.P678T|RP1-71H24.1_ENST00000552784.1_RNA	p.P678T	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			10	2239	+			678			OAS domain 2.		A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	ENST00000342315.4	37	c.2032C>A	CCDS31906.1	.	.	.	.	.	.	.	.	.	.	.	1.140	-0.649730	0.03506	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.43294	0.95;0.95	4.39	-0.329	0.12686	-oligoadenylate synthetase 1, domain 2/C-terminal (2);-5&apos (2);2&apos (2);	2.511830	0.01957	N	0.043065	T	0.29850	0.0746	L	0.34521	1.04	0.09310	N	1	B;B	0.14805	0.011;0.008	B;B	0.15870	0.014;0.009	T	0.05599	-1.0875	10	0.20046	T	0.44	-23.8121	3.4208	0.07393	0.3039:0.4748:0.127:0.0942	.	678;678	P29728;P29728-2	OAS2_HUMAN;.	T	678	ENSP00000342278:P678T;ENSP00000376362:P678T	ENSP00000342278:P678T	P	+	1	0	OAS2	111931411	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.389000	0.07342	-0.130000	0.11599	-0.797000	0.03246	CCA		0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			10	356	1	0	0.0809354	1	0.0859938	10	356				
PLEKHA7	144100	broad.mit.edu	37	11	16863232	16863232	+	Missense_Mutation	SNP	C	C	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr11:16863232C>T	ENST00000355661.3	-	9	744	c.734G>A	c.(733-735)aGc>aAc	p.S245N	RN7SKP90_ENST00000363013.1_RNA|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S245N|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S245N|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	245	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						CGCTGTGGAGCTGTTATAGAT	0.557																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(733-735)aGc>aAc		pleckstrin homology domain containing, family A member 7							72.0	61.0	65.0					11																	16863232		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16863232C>T	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.734G>A	11.37:g.16863232C>T	ENSP00000347883:p.Ser245Asn					PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S245N|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S245N	p.S245N			Q6IQ23	PKHA7_HUMAN			9	744	-			245			PH.		B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.734G>A	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	C	7.132	0.580113	0.13686	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080	T;T;T	0.06933	3.24;3.24;3.24	4.94	1.75	0.24633	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.398985	0.29165	N	0.012950	T	0.04048	0.0113	N	0.04880	-0.145	0.26592	N	0.973178	B;B	0.24317	0.101;0.0	B;B	0.24974	0.057;0.002	T	0.41556	-0.9502	10	0.27082	T	0.32	-14.542	10.4745	0.44657	0.0:0.5342:0.387:0.0788	.	245;245	E9PKC0;Q6IQ23	.;PKHA7_HUMAN	N	245	ENSP00000435389:S245N;ENSP00000347883:S245N;ENSP00000416895:S245N	ENSP00000347883:S245N	S	-	2	0	PLEKHA7	16819808	1.000000	0.71417	0.975000	0.42487	0.357000	0.29423	1.261000	0.32980	0.742000	0.32697	0.650000	0.86243	AGC		0.557	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		3	70	0	0	0	1	0	3	70				
NADK	65220	broad.mit.edu	37	1	1688592	1688594	+	Intron	DEL	AGG	AGG	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:1688592_1688594delAGG	ENST00000341426.5	-	4	615				NADK_ENST00000342348.5_Intron|NADK_ENST00000492768.1_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.244_245AW>G|NADK_ENST00000341991.3_Intron|NADK_ENST00000344463.4_In_Frame_Del_p.244_245AW>G	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)		TGTGCACCCCAGGCCCCCTTCCC	0.626																																						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.(730-735)ggg>g		NAD kinase			,,,	28,3504		4,20,1742					,,,	2.2	0.0			5	129,6821		0,129,3346	no	intron,intron,coding,intron	NADK	NM_023018.4,NM_001198995.1,NM_001198994.1,NM_001198993.1	,,,	4,149,5088	A1A1,A1R,RR		1.8561,0.7928,1.4978	,,,	,,,		157,10325				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.chr1:1688592_1688594delAGG	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+25CCT>-	1.37:g.1688592_1688594delAGG						NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_Intron|NADK_ENST00000341991.3_Intron|NADK_ENST00000378625.1_In_Frame_Del_p.AW244del|NADK_ENST00000341426.5_Intron	p.AW244del			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	952_954	-	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	In_Frame_Del	DEL	ENST00000341426.5	37	c.731_733delCCT	CCDS30565.1																																																																																				0.626	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018		8	56						8	56	---	---	---	---
TMCO1	54499	broad.mit.edu	37	1	165712550	165712551	+	Splice_Site	INS	-	-	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:165712550_165712551insA	ENST00000392129.6	-	6	474		c.e6-2		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CCATCAAATCTAAAAGAAAAAA	0.381																																						ENST00000367881.5																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9						c.e6-2		transmembrane and coiled-coil domains 1																																				SO:0001630	splice_region_variant	54499					endoplasmic reticulum membrane|Golgi membrane|integral to membrane		g.chr1:165712550_165712551insA	AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.324-2->T	1.37:g.165712554_165712554dupA						TMCO1_ENST00000580248.1_Splice_Site|TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000392129.6_Splice_Site				Q9UM00	TMCO1_HUMAN			6	752	-	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)							B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	INS	ENST00000392129.6	37																																																																																						0.381	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000467850.1	NM_019026	Intron	7	101						7	101	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175372615	175372615	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr1:175372615delC	ENST00000367674.2	-	4	1345	c.637delG	c.(637-639)gtgfs	p.V213fs	TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs			Q92752	TENR_HUMAN	tenascin R	213	Cys-rich.				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)					TCCACACACACCCCCCGGCTG	0.607																																						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.(637-639)tgfs		tenascin R							104.0	109.0	107.0					1																	175372615		2203	4300	6503	SO:0001589	frameshift_variant	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175372615delC	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.637delG	1.37:g.175372615delC	ENSP00000356646:p.Val213fs					TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs	p.V213fs	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			4	1345	-	Renal(580;0.146)		213			Cys-rich.		C9J563|Q15568|Q5R3G0	Frame_Shift_Del	DEL	ENST00000367674.2	37	c.637delG	CCDS1318.1																																																																																				0.607	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		7	338						7	338	---	---	---	---
RAB11FIP5	26056	broad.mit.edu	37	2	73315337	73315339	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr2:73315337_73315339delTGG	ENST00000258098.6	-	3	1647_1649	c.1407_1409delCCA	c.(1405-1410)caccaa>caa	p.H469del	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	469					cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						ACTTAGGCCTTGGTGGTGGTGGT	0.635																																						ENST00000258098.6																			0				biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						c.(1405-1410)caa>ca		RAB11 family interacting protein 5 (class I)																																				SO:0001651	inframe_deletion	26056				protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	g.chr2:73315337_73315339delTGG	AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1407_1409delCCA	2.37:g.73315346_73315348delTGG	ENSP00000258098:p.His469del					RAB11FIP5_ENST00000493523.2_5'UTR	p.HQ469del	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN			3	1647_1649	-			469					O94939|Q9P0M1	In_Frame_Del	DEL	ENST00000258098.6	37	c.1407_1409delCCA	CCDS1923.1																																																																																				0.635	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251995.1	NM_015470		8	294						8	294	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195412724	195412725	+	lincRNA	DEL	TT	TT	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr3:195412724_195412725delTT	ENST00000445430.1	+	0	3921_3922									long intergenic non-protein coding RNA 969																		TTGACAAAACTTTGAACGAGGC	0.401																																						ENST00000445430.1																			0																																																			0							g.chr3:195412724_195412725delTT	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.195412724_195412725delTT														0	3921_3922	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.401	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			8	79						8	79	---	---	---	---
NECAB1	64168	broad.mit.edu	37	8	91804128	91804128	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr8:91804128delA	ENST00000417640.2	+	1	351	c.14delA	c.(13-15)cagfs	p.Q5fs	TMEM64_ENST00000519519.1_5'Flank|NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	5						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAAGATTCCCAGGAGACATCG	0.647																																						ENST00000417640.2																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12						c.(13-15)cgfs		N-terminal EF-hand calcium binding protein 1							34.0	39.0	38.0					8																	91804128		1884	3846	5730	SO:0001589	frameshift_variant	64168				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity	g.chr8:91804128delA	AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.14delA	8.37:g.91804128delA	ENSP00000387380:p.Gln5fs					NECAB1_ENST00000521954.1_3'UTR	p.Q5fs	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0499)		1	351	+			5					Q6NUS7|Q96AZ7|Q9HBW8	Frame_Shift_Del	DEL	ENST00000417640.2	37	c.14delA	CCDS47889.1																																																																																				0.647	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376728.1	NM_022351		2	4						2	4	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		9	141						9	141	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr10:55587198_55587200delGGC	ENST00000320301.6	-	32	4714_4716	c.4320_4322delGCC	c.(4318-4323)ccgcct>cct	p.1440_1441PP>P	PCDH15_ENST00000414778.1_In_Frame_Del_p.1442_1443PP>P|PCDH15_ENST00000409834.1_In_Frame_Del_p.1051_1052PP>P|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.1369_1370PP>P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395432.2_In_Frame_Del_p.1400_1401PP>P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_In_Frame_Del_p.1437_1438PP>P|PCDH15_ENST00000361849.3_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000373965.2_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395445.1_In_Frame_Del_p.1447_1448PP>P|PCDH15_ENST00000395438.1_In_Frame_Del_p.1440_1441PP>P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_In_Frame_Del_p.1415_1416PP>P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1440	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4339-4344)cct>cc		protocadherin-related 15																																				SO:0001651	inframe_deletion	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587198_55587200delGGC	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4320_4322delGCC	10.37:g.55587207_55587209delGGC	ENSP00000322604:p.Pro1443del	HNSCC(58;0.16)				PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del	p.PP1449del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4735_4737	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1442					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	In_Frame_Del	DEL	ENST00000320301.6	37	c.4341_4343delGCC	CCDS7248.1																																																																																				0.571	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		7	143						7	143	---	---	---	---
ATG2B	55102	broad.mit.edu	37	14	96783571	96783572	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr14:96783571_96783572insT	ENST00000359933.4	-	20	4013_4014	c.3120_3121insA	c.(3118-3123)aaattafs	p.L1041fs		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1041					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TGAGAGTCTAATTTTTTTTTCC	0.371																																						ENST00000359933.4																			0				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64						c.(3118-3123)aatagafs		autophagy related 2B																																				SO:0001589	frameshift_variant	55102							g.chr14:96783571_96783572insT	AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.3121dupA	14.37:g.96783580_96783580dupT	ENSP00000353010:p.Leu1041fs						p.NR1040fs	NM_018036.5	NP_060506.5	Q96BY7	ATG2B_HUMAN		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)	20	4013_4014	-		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)	1040					Q6ZRE7|Q96DQ3|Q9NW80	Frame_Shift_Ins	INS	ENST00000359933.4	37	c.3120_3121insA	CCDS9944.2																																																																																				0.371	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314037.1	NM_018036		8	142						8	142	---	---	---	---
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473268	22473268	+	RNA	DEL	G	G	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr15:22473268delG	ENST00000557788.2	-	0	46							A6NJ16	IV4F8_HUMAN	immunoglobulin heavy variable 4/OR15-8 (non-functional)							extracellular region (GO:0005576)											ATCAGAGGCAGCCTCCCCTAT	0.582																																						ENST00000557788.2																			0																																																			0							g.chr15:22473268delG	Z29598		15q11.2	2012-02-20	2008-09-15		ENSG00000259261	ENSG00000259261		"""Immunoglobulins / IGH orphons"""	5658	other	immunoglobulin gene			"""immunoglobulin heavy variable 4/OR15-8"", ""V-set and immunoglobulin domain containing 6"""	VSIG6		7951227	Standard			Approved	IGHV4/OR15-8, IGHV4OR158		A6NJ16	OTTHUMG00000171934		15.37:g.22473268delG														0	46	-									RNA	DEL	ENST00000557788.2	37																																																																																						0.582	IGHV4OR15-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000415968.2			8	74						8	74	---	---	---	---
GOLGA6B	55889	broad.mit.edu	37	15	72957311	72957313	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr15:72957311_72957313delGAG	ENST00000421285.3	+	14	1528_1530	c.1528_1530delGAG	c.(1528-1530)gagdel	p.E513del	RN7SL853P_ENST00000477951.2_RNA	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN	golgin A6 family, member B	513						Golgi apparatus (GO:0005794)				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						TCTGGACAGTGAGGAGGAGGAGG	0.635																																						ENST00000421285.3																			0				NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						c.(1528-1530)del		golgin A6 family, member B				15,2317		3,9,1154						-0.8	0.0			8	86,2952		19,48,1452	no	coding	GOLGA6B	NM_018652.4		22,57,2606	A1A1,A1R,RR		2.8308,0.6432,1.8808				101,5269				SO:0001651	inframe_deletion	55889							g.chr15:72957311_72957313delGAG		CCDS10245.2	15q24.1	2011-10-25	2010-02-12		ENSG00000215186	ENSG00000215186			32205	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6B"""				Standard	XM_006720604		Approved		uc010uks.1	A6NDN3	OTTHUMG00000133511	ENST00000421285.3:c.1528_1530delGAG	15.37:g.72957320_72957322delGAG	ENSP00000408132:p.Glu513del						p.E513del	NM_018652.4	NP_061122.4	A6NDN3	GOG6B_HUMAN			14	1528_1530	+			513					A8MYY7	In_Frame_Del	DEL	ENST00000421285.3	37	c.1528_1530delGAG	CCDS10245.2																																																																																				0.635	GOLGA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257474.4	NM_018652		3	5						3	5	---	---	---	---
SLC9A5	6553	broad.mit.edu	37	16	67300017	67300019	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr16:67300017_67300019delGAG	ENST00000299798.11	+	15	2172_2174	c.2107_2109delGAG	c.(2107-2109)gagdel	p.E708del	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	708					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CGTGGAGTCTGAGGAGGAGGAGG	0.571																																						ENST00000299798.11																			0				breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27						c.(2107-2109)del		solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5																																				SO:0001651	inframe_deletion	6553				regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	g.chr16:67300017_67300019delGAG		CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.2107_2109delGAG	16.37:g.67300026_67300028delGAG	ENSP00000299798:p.Glu708del						p.E708del	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)	15	2172_2174	+		Ovarian(137;0.0563)	708					A5PKY7|Q9Y626	In_Frame_Del	DEL	ENST00000299798.11	37	c.2107_2109delGAG	CCDS42178.1																																																																																				0.571	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421386.1			8	93						8	93	---	---	---	---
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:8415820_8415822delTTC	ENST00000269243.4	-	22	2944_2946	c.2806_2808delGAA	c.(2806-2808)gaadel	p.E936del	RNU7-43P_ENST00000516554.1_RNA|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000360416.3_In_Frame_Del_p.E967del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	936					actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.35																																						ENST00000360416.3																			0				breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						c.(2899-2901)del		myosin, heavy chain 10, non-muscle																																				SO:0001651	inframe_deletion	4628				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr17:8415820_8415822delTTC	M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.2806_2808delGAA	17.37:g.8415829_8415831delTTC	ENSP00000269243:p.Glu936del					MYH10_ENST00000269243.4_In_Frame_Del_p.E936del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000396239.1_In_Frame_Del_p.E957del	p.E967del	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN			24	3037_3039	-			936					B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	In_Frame_Del	DEL	ENST00000269243.4	37	c.2899_2901delGAA	CCDS11144.1																																																																																				0.350	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000227001.2			8	118						8	118	---	---	---	---
PPM1D	8493	broad.mit.edu	37	17	58740385	58740386	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr17:58740385_58740386insA	ENST00000305921.3	+	6	1522_1523	c.1290_1291insA	c.(1291-1293)aatfs	p.N431fs	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	431					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGCCAAGGGTGAATTCTAAGGA	0.401											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																										ENST00000305921.3																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15						c.(1288-1293)gtattcfs		protein phosphatase, Mg2+/Mn2+ dependent, 1D																																				SO:0001589	frameshift_variant	8493				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr17:58740385_58740386insA	U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1292dupA	17.37:g.58740387_58740387dupA	ENSP00000306682:p.Asn431fs		OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	1033		p.F431fs	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)		6	1522_1523	+	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		431					Q53XP4|Q6P991|Q8IVR6	Frame_Shift_Ins	INS	ENST00000305921.3	37	c.1290_1291insA	CCDS11625.1																																																																																				0.401	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449474.1	NM_003620		10	211						10	211	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)tggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(658-660)ggfs		zinc finger protein 442							136.0	132.0	134.0					19																	12461741		2203	4300	6503	SO:0001589	frameshift_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461741delA	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.658delT	19.37:g.12461741delA	ENSP00000242804:p.Trp220fs					ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	p.W220fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1240	-			220					B4DJ48	Frame_Shift_Del	DEL	ENST00000242804.4	37	c.658delT	CCDS12271.1																																																																																				0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		7	246						7	246	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76778785	76778787	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:76778785_76778787delTCT	ENST00000373344.5	-	31	7006_7008	c.6792_6794delAGA	c.(6790-6795)gaagag>gag	p.2264_2265EE>E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.2226_2227EE>E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2264	Interaction with MECP2.|Poly-Glu.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTCAGTCAACTCTTCTTCTTCTT	0.369			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		0				bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(6790-6795)gag>ga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001651	inframe_deletion	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76778785_76778787delTCT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.6792_6794delAGA	X.37:g.76778794_76778796delTCT	ENSP00000362441:p.Glu2265del					ATRX_ENST00000395603.3_In_Frame_Del_p.EE2226del|ATRX_ENST00000480283.1_5'UTR	p.EE2264del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			31	7006_7008	-			2264			Poly-Glu.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	In_Frame_Del	DEL	ENST00000373344.5	37	c.6792_6794delAGA	CCDS14434.1																																																																																				0.369	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		7	479						7	479	---	---	---	---
MAGEA10	4109	broad.mit.edu	37	X	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-FY-A3R7-01A-11D-A21Z-08	TCGA-FY-A3R7-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70bcbd8b-101e-4fd8-aed8-acb251f4e31d	97a1bdbf-7d65-4bc2-b8ce-f13f9c221b73	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	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					MAGEA10_ENST00000244096.3_In_Frame_Del_p.SC62del|RP11-1007I13.4_ENST00000509345.2_RNA	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		7	204						7	204	---	---	---	---
