#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
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		4	62	0	0	0	1	0	4	62				
USH2A	7399	broad.mit.edu	37	1	215848631	215848631	+	Missense_Mutation	SNP	C	C	T	rs529589990		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:215848631C>T	ENST00000307340.3	-	63	13008	c.12622G>A	c.(12622-12624)Gac>Aac	p.D4208N	USH2A_ENST00000366943.2_Missense_Mutation_p.D4208N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4208	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.D4208N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATTTTCTCGTCGGCCTGGATT	0.393										HNSCC(13;0.011)			C|||	1	0.000199681	0.0	0.0	5008	,	,		21149	0.0		0.0	False		,,,				2504	0.001					ENST00000366943.2																			1	Substitution - Missense(1)	p.D4208N(1)	prostate(1)	NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(12622-12624)Gac>Aac		Usher syndrome 2A (autosomal recessive, mild)							118.0	118.0	118.0					1																	215848631		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215848631C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.12622G>A	1.37:g.215848631C>T	ENSP00000305941:p.Asp4208Asn	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.D4208N	p.D4208N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13008	-			4208			Fibronectin type-III 27.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.12622G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	3.358	-0.131034	0.06753	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	D;T	0.84589	-1.87;2.49	5.25	1.37	0.22104	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.293134	0.23770	N	0.044724	T	0.76877	0.4049	L	0.43923	1.385	0.09310	N	0.999998	B	0.22211	0.066	B	0.20184	0.028	T	0.63065	-0.6720	10	0.37606	T	0.19	.	8.6272	0.33897	0.0:0.6412:0.0:0.3588	.	4208	O75445	USH2A_HUMAN	N	4208	ENSP00000305941:D4208N;ENSP00000355910:D4208N	ENSP00000305941:D4208N	D	-	1	0	USH2A	213915254	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	0.053000	0.14184	0.007000	0.14760	-0.133000	0.14855	GAC		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		12	67	0	0	0	1	0	12	67				
SRL	6345	broad.mit.edu	37	16	4242493	4242493	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:4242493G>A	ENST00000399609.3	-	6	1095	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	SRL_ENST00000537996.1_Silent_p.F319F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	820	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						CTCCATCACTGAAGAAGGTCA	0.493																																						ENST00000399609.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						c.(1081-1083)ttC>ttT		sarcalumenin							100.0	104.0	103.0					16																	4242493		2063	4219	6282	SO:0001819	synonymous_variant	6345					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	g.chr16:4242493G>A	AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.1083C>T	16.37:g.4242493G>A						SRL_ENST00000537996.1_Silent_p.F319F	p.F361F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN			6	1095	-			820			Acidic domain, probably binds calcium (By similarity).			Silent	SNP	ENST00000399609.3	37	c.1083C>T	CCDS42113.1																																																																																				0.493	SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152		47	136	0	0	0	1	0	47	136				
ABCA13	154664	broad.mit.edu	37	7	48428790	48428790	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:48428790C>T	ENST00000435803.1	+	37	11651	c.11627C>T	c.(11626-11628)aCa>aTa	p.T3876I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3876	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGCTGGGGACAAACGGTGCC	0.498																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(11626-11628)aCa>aTa		ATP-binding cassette, sub-family A (ABC1), member 13							49.0	51.0	50.0					7																	48428790		1893	4131	6024	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48428790C>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11627C>T	7.37:g.48428790C>T	ENSP00000411096:p.Thr3876Ile						p.T3876I	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			37	11651	+			3876			ABC transporter 1.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11627C>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.808085	0.50421	.	.	ENSG00000179869	ENST00000435803	D	0.93247	-3.19	4.59	4.59	0.56863	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.166096	0.28301	N	0.015845	D	0.91496	0.7315	N	0.13168	0.305	0.80722	D	1	D;D	0.60575	0.988;0.988	P;P	0.57776	0.827;0.714	D	0.92348	0.5887	10	0.51188	T	0.08	.	14.4612	0.67450	0.0:1.0:0.0:0.0	.	1578;3876	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3876	ENSP00000411096:T3876I	ENSP00000411096:T3876I	T	+	2	0	ABCA13	48399336	0.970000	0.33590	0.981000	0.43875	0.674000	0.39518	3.553000	0.53713	2.254000	0.74563	0.655000	0.94253	ACA		0.498	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		20	55	0	0	0	1	0	20	55				
OR1F2P	26184	broad.mit.edu	37	16	3265899	3265899	+	RNA	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3265899C>T	ENST00000576468.1	+	0	418																											CTCTGGCTGTCTCATGCAGAT	0.517																																						ENST00000576468.1																			0																																																			26184							g.chr16:3265899C>T																													16.37:g.3265899C>T														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.517	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			9	44	0	0	0	1	0	9	44				
TRHDE	29953	broad.mit.edu	37	12	72863624	72863624	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:72863624C>T	ENST00000261180.4	+	4	1363	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	423					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						ACTGCTGGATCCCAGTGTTTC	0.373																																						ENST00000261180.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						c.(1267-1269)Ccc>Tcc		thyrotropin-releasing hormone degrading enzyme							161.0	163.0	162.0					12																	72863624		2203	4300	6503	SO:0001583	missense	29953				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	g.chr12:72863624C>T	AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1267C>T	12.37:g.72863624C>T	ENSP00000261180:p.Pro423Ser						p.P423S	NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN			4	1363	+			423					A5PL19|Q6UWJ4	Missense_Mutation	SNP	ENST00000261180.4	37	c.1267C>T	CCDS9004.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461704	0.43736	.	.	ENSG00000072657	ENST00000261180	T	0.05580	3.42	5.87	5.87	0.94306	Peptidase M1, membrane alanine aminopeptidase, N-terminal (1);	0.165791	0.53938	D	0.000047	T	0.09818	0.0241	L	0.48935	1.535	0.58432	D	0.999994	B	0.31153	0.31	B	0.28638	0.092	T	0.05241	-1.0897	10	0.66056	D	0.02	.	20.2032	0.98269	0.0:1.0:0.0:0.0	.	423	Q9UKU6	TRHDE_HUMAN	S	423	ENSP00000261180:P423S	ENSP00000261180:P423S	P	+	1	0	TRHDE	71149891	1.000000	0.71417	1.000000	0.80357	0.405000	0.30901	5.012000	0.64017	2.785000	0.95823	0.650000	0.86243	CCC		0.373	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		8	43	0	0	0	1	0	8	43				
FOXF2	2295	broad.mit.edu	37	6	1391351	1391351	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:1391351C>G	ENST00000259806.1	+	1	1283	c.1169C>G	c.(1168-1170)tCa>tGa	p.S390*		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	390					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		GAGGACCTCTCAGGTAACGCA	0.677																																						ENST00000259806.1																			0				large_intestine(2)|lung(5)|prostate(1)	8						c.(1168-1170)tCa>tGa		forkhead box F2							16.0	16.0	16.0					6																	1391351		2151	4185	6336	SO:0001587	stop_gained	2295				epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391351C>G	U13220	CCDS4472.1	6p25.3	2008-04-10			ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	3810	protein-coding gene	gene with protein product		603250		FKHL6		9799607, 7957066	Standard	NM_001452		Approved	FREAC2	uc003mtm.3	Q12947	OTTHUMG00000016243	ENST00000259806.1:c.1169C>G	6.37:g.1391351C>G	ENSP00000259806:p.Ser390*						p.S390*	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	1283	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	390					Q5TGJ1|Q9UQ85	Nonsense_Mutation	SNP	ENST00000259806.1	37	c.1169C>G	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	37	6.410107	0.97546	.	.	ENSG00000137273	ENST00000259806	.	.	.	4.34	4.34	0.51931	.	0.203139	0.24449	U	0.038440	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	15.6208	0.76805	0.0:1.0:0.0:0.0	.	.	.	.	X	390	.	ENSP00000259806:S390X	S	+	2	0	FOXF2	1336350	0.321000	0.24625	0.999000	0.59377	0.838000	0.47535	0.935000	0.28924	2.258000	0.74832	0.561000	0.74099	TCA		0.677	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1			5	23	0	0	0	1	0	5	23				
CHST2	9435	broad.mit.edu	37	3	142840967	142840967	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:142840967C>T	ENST00000309575.3	+	2	2693	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN	carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2	437					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|multicellular organismal development (GO:0007275)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAAGACACTACGGAGAGTGTA	0.602																																						ENST00000309575.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						c.(1309-1311)Cgg>Tgg		carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2							76.0	70.0	72.0					3																	142840967		2203	4300	6503	SO:0001583	missense	9435				inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr3:142840967C>T	BC042160	CCDS3129.1	3q24	2007-03-14			ENSG00000175040	ENSG00000175040		"""Sulfotransferases, membrane-bound"""	1970	protein-coding gene	gene with protein product		603798				10049591	Standard	NM_004267		Approved	C6ST	uc003evm.3	Q9Y4C5	OTTHUMG00000159351	ENST00000309575.3:c.1309C>T	3.37:g.142840967C>T	ENSP00000307911:p.Arg437Trp						p.R437W	NM_004267.4	NP_004258.2	Q9Y4C5	CHST2_HUMAN			2	2693	+			437					D3DNG5|Q2M370|Q9GZN5|Q9UED5|Q9Y6F2	Missense_Mutation	SNP	ENST00000309575.3	37	c.1309C>T	CCDS3129.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115435	0.56505	.	.	ENSG00000175040	ENST00000309575	D	0.83419	-1.72	4.33	3.42	0.39159	Sulfotransferase domain (1);	0.153194	0.40818	N	0.001010	D	0.89787	0.6816	M	0.77486	2.375	0.58432	D	0.999991	D	0.89917	1.0	D	0.91635	0.999	D	0.90051	0.4149	10	0.87932	D	0	-15.2695	11.2933	0.49263	0.3673:0.6327:0.0:0.0	.	437	Q9Y4C5	CHST2_HUMAN	W	437	ENSP00000307911:R437W	ENSP00000307911:R437W	R	+	1	2	CHST2	144323657	0.073000	0.21202	0.956000	0.39512	0.989000	0.77384	0.407000	0.21049	0.968000	0.38212	0.407000	0.27541	CGG		0.602	CHST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354850.1	NM_004267		12	49	0	0	0	1	0	12	49				
MBD6	114785	broad.mit.edu	37	12	57919632	57919632	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:57919632C>G	ENST00000355673.3	+	6	1237	c.881C>G	c.(880-882)aCt>aGt	p.T294S	MBD6_ENST00000431731.2_Missense_Mutation_p.T294S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	294	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TCTTCAGCCACTATGCACCTG	0.667																																						ENST00000355673.3																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						c.(880-882)aCt>aGt		methyl-CpG binding domain protein 6							26.0	34.0	31.0					12																	57919632		2180	4284	6464	SO:0001583	missense	114785					chromosome|nucleus	chromatin binding|DNA binding	g.chr12:57919632C>G	AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.881C>G	12.37:g.57919632C>G	ENSP00000347896:p.Thr294Ser					MBD6_ENST00000431731.2_Missense_Mutation_p.T294S	p.T294S	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN			6	1237	+			294			Pro-rich.		Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	c.881C>G	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	7.325	0.617819	0.14129	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.5	3.5	0.40072	.	0.000000	0.49916	D	0.000129	T	0.34774	0.0909	N	0.08118	0	0.25971	N	0.982496	P;D	0.59767	0.927;0.986	D;P	0.67725	0.953;0.903	T	0.18493	-1.0335	8	.	.	.	-4.9196	13.0455	0.58924	0.0:1.0:0.0:0.0	.	294;294	Q6P0P0;Q96DN6	.;MBD6_HUMAN	S	294	.	.	T	+	2	0	MBD6	56205899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.072000	0.41510	2.243000	0.73865	0.544000	0.68410	ACT		0.667	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			22	73	0	0	0	1	0	22	73				
ZNF679	168417	broad.mit.edu	37	7	63709405	63709405	+	Splice_Site	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:63709405G>C	ENST00000421025.1	+	2	179		c.e2-1		ZNF679_ENST00000255746.4_5'Flank	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTGCGTCCAGAGCTCCAGTT	0.498																																						ENST00000421025.1																			0				endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						c.e2-1		zinc finger protein 679																																				SO:0001630	splice_region_variant	168417				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63709405G>C	BC033523	CCDS47592.1	7q11.21	2013-01-08			ENSG00000197123	ENSG00000197123		"""Zinc fingers, C2H2-type"", ""-"""	28650	protein-coding gene	gene with protein product	"""hypothetical protein MGC42415"""					12477932	Standard	NM_153363		Approved	MGC42415	uc003tsx.3	Q8IYX0	OTTHUMG00000156486	ENST00000421025.1:c.-90-1G>C	7.37:g.63709405G>C								NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN			2	179	+									Splice_Site	SNP	ENST00000421025.1	37		CCDS47592.1																																																																																				0.498	ZNF679-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344317.2	NM_153363	Intron	5	15	0	0	0	1	0	5	15				
FBXL13	222235	broad.mit.edu	37	7	102669089	102669089	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:102669089G>C	ENST00000313221.4	-	4	601	c.175C>G	c.(175-177)Cac>Gac	p.H59D	FBXL13_ENST00000379305.3_Missense_Mutation_p.H59D|FBXL13_ENST00000455112.2_Missense_Mutation_p.H59D|FBXL13_ENST00000471074.1_Intron|RP11-645N11.3_ENST00000447336.1_RNA|FBXL13_ENST00000393772.2_Missense_Mutation_p.H59D|FBXL13_ENST00000379308.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379306.3_Missense_Mutation_p.H59D|FBXL13_ENST00000456695.1_Missense_Mutation_p.H59D|FBXL13_ENST00000436908.1_Missense_Mutation_p.H59D	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	59										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GAGTGCCAGTGATGAAATACA	0.313																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(175-177)Cac>Gac		F-box and leucine-rich repeat protein 13							88.0	83.0	85.0					7																	102669089		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102669089G>C	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.175C>G	7.37:g.102669089G>C	ENSP00000321927:p.His59Asp					FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.H59D|FBXL13_ENST00000455112.2_Missense_Mutation_p.H59D|FBXL13_ENST00000436908.1_Missense_Mutation_p.H59D|FBXL13_ENST00000379305.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379306.3_Missense_Mutation_p.H59D|FBXL13_ENST00000379308.3_Missense_Mutation_p.H59D|FBXL13_ENST00000313221.4_Missense_Mutation_p.H59D	p.H59D			Q8NEE6	FXL13_HUMAN			4	601	-			59					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.175C>G	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	G	12.80	2.047073	0.36085	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112;ENST00000440067	T;T;T;T;T;T;T;T;T	0.42131	0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98;0.98	3.94	0.689	0.18033	.	1.280440	0.05471	N	0.553139	T	0.32164	0.0820	L	0.57536	1.79	0.09310	N	1	B;P;B	0.37276	0.306;0.589;0.204	B;B;B	0.29267	0.1;0.074;0.05	T	0.21075	-1.0256	10	0.33141	T	0.24	.	2.6334	0.04951	0.2892:0.0:0.4908:0.22	.	59;59;59	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	D	59;59;59;59;59;59;59;59;149	ENSP00000377367:H59D;ENSP00000368610:H59D;ENSP00000368608:H59D;ENSP00000368607:H59D;ENSP00000388608:H59D;ENSP00000321927:H59D;ENSP00000409716:H59D;ENSP00000391550:H59D;ENSP00000390126:H149D	ENSP00000321927:H59D	H	-	1	0	FBXL13	102456325	0.001000	0.12720	0.000000	0.03702	0.642000	0.38348	0.469000	0.22067	0.129000	0.18514	0.460000	0.39030	CAC		0.313	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		16	33	0	0	0	1	0	16	33				
LYSMD4	145748	broad.mit.edu	37	15	100269687	100269687	+	Missense_Mutation	SNP	C	C	G	rs180886521		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:100269687C>G	ENST00000409796.1	-	3	594	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000344791.2_Missense_Mutation_p.E179Q|LYSMD4_ENST00000332728.4_Missense_Mutation_p.E178Q|LYSMD4_ENST00000545021.1_Missense_Mutation_p.E52Q	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	178						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			ACTGCACGCTCAATATCCTGG	0.577																																						ENST00000545021.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(154-156)Gag>Cag		LysM, putative peptidoglycan-binding, domain containing 4							86.0	83.0	84.0					15																	100269687		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269687C>G	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.532G>C	15.37:g.100269687C>G	ENSP00000386283:p.Glu178Gln					LYSMD4_ENST00000332728.4_Missense_Mutation_p.E178Q|LYSMD4_ENST00000409796.1_Missense_Mutation_p.E178Q|LYSMD4_ENST00000344791.2_Missense_Mutation_p.E179Q|LYSMD4_ENST00000604213.1_Intron	p.E52Q			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		4	968	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		178					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.154G>C		.	.	.	.	.	.	.	.	.	.	C	13.89	2.373376	0.42105	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	T;T;T;T	0.19105	2.17;2.17;2.17;2.17	5.13	5.13	0.70059	.	0.102242	0.64402	D	0.000004	T	0.30166	0.0756	M	0.68952	2.095	0.46499	D	0.99907	P;P	0.51537	0.607;0.946	B;P	0.46253	0.366;0.509	T	0.04347	-1.0958	10	0.41790	T	0.15	-14.4888	15.2438	0.73490	0.0:0.8492:0.1508:0.0	.	179;178	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	Q	178;179;178;52	ENSP00000386283:E178Q;ENSP00000342840:E179Q;ENSP00000333008:E178Q;ENSP00000445357:E52Q	ENSP00000333008:E178Q	E	-	1	0	LYSMD4	98087210	0.998000	0.40836	0.863000	0.33907	0.129000	0.20672	3.610000	0.54125	2.383000	0.81215	0.655000	0.94253	GAG		0.577	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		46	147	0	0	0	1	0	46	147				
BRINP3	339479	broad.mit.edu	37	1	190067866	190067866	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:190067866G>A	ENST00000367462.3	-	8	1814	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	BRINP3_ENST00000534846.1_Missense_Mutation_p.S426F	NM_199051.1	NP_950252.1	Q76B58	BRNP3_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 3	528					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)											CTTACGCCAGGAGGGATCAAA	0.433																																						ENST00000367462.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164						c.(1582-1584)tCc>tTc									124.0	120.0	121.0					1																	190067866		2203	4300	6503	SO:0001583	missense	339479					extracellular region		g.chr1:190067866G>A	AB111893	CCDS1373.1	1q31.1	2013-09-18	2013-09-18	2013-09-18	ENSG00000162670	ENSG00000162670			22393	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member C"""	FAM5C		16018821, 15193423	Standard	NM_199051		Approved	DBCCR1L, DBCCR1L1	uc001gse.1	Q76B58	OTTHUMG00000035533	ENST00000367462.3:c.1583C>T	1.37:g.190067866G>A	ENSP00000356432:p.Ser528Phe					FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.S426F	p.S528F	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN			8	1814	-	Prostate(682;0.198)		528					B3KVP1|B7Z260|O95726|Q2M330	Missense_Mutation	SNP	ENST00000367462.3	37	c.1583C>T	CCDS1373.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.599961	0.66332	.	.	ENSG00000162670	ENST00000367462;ENST00000534846	T;T	0.20332	2.34;2.08	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.45637	0.1352	M	0.64997	1.995	0.80722	D	1	D;D	0.69078	0.997;0.99	D;D	0.78314	0.991;0.962	T	0.34601	-0.9822	10	0.87932	D	0	.	17.1831	0.86859	0.0:0.0:1.0:0.0	.	426;528	B7Z260;Q76B58	.;FAM5C_HUMAN	F	528;426	ENSP00000356432:S528F;ENSP00000438022:S426F	ENSP00000356432:S528F	S	-	2	0	FAM5C	188334489	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.958000	0.87877	2.653000	0.90120	0.591000	0.81541	TCC		0.433	BRINP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086278.1	NM_199051		15	128	0	0	0	1	0	15	128				
CDC42BPA	8476	broad.mit.edu	37	1	227381593	227381593	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:227381593G>C	ENST00000366769.3	-	5	1784	c.493C>G	c.(493-495)Cta>Gta	p.L165V	CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L165V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L165V	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TTGCTGAGTAGAGTAAGCAAA	0.338																																						ENST00000366769.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77						c.(493-495)Cta>Gta		CDC42 binding protein kinase alpha (DMPK-like)							132.0	117.0	122.0					1																	227381593		2203	4300	6503	SO:0001583	missense	8476				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr1:227381593G>C	U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.493C>G	1.37:g.227381593G>C	ENSP00000355731:p.Leu165Val					CDC42BPA_ENST00000366767.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.L165V|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.L165V|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.L165V	p.L165V	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN			5	1784	-		all_cancers(173;0.156)|Prostate(94;0.0792)	165			Protein kinase.			Missense_Mutation	SNP	ENST00000366769.3	37	c.493C>G	CCDS1558.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163667	0.57476	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18;-0.18;-0.18	4.99	0.993	0.19825	.	0.000000	0.85682	D	0.000000	T	0.70211	0.3198	L	0.51914	1.62	0.54753	D	0.999985	D;D;D;D	0.89917	0.993;0.999;0.992;1.0	D;D;D;D	0.97110	0.99;0.998;0.987;1.0	T	0.66795	-0.5833	10	0.66056	D	0.02	.	10.2312	0.43256	0.5095:0.0:0.4905:0.0	.	165;165;165;165	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5	.;.;.;.	V	165	ENSP00000355731:L165V;ENSP00000355729:L165V;ENSP00000335341:L165V;ENSP00000355728:L165V;ENSP00000355726:L165V;ENSP00000443275:L165V;ENSP00000355727:L165V	ENSP00000335341:L165V	L	-	1	2	CDC42BPA	225448216	0.950000	0.32346	0.985000	0.45067	0.948000	0.59901	1.617000	0.36943	-0.307000	0.08804	-1.119000	0.02030	CTA		0.338	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091696.1	NM_014826		20	32	0	0	0	1	0	20	32				
TRBV2	28620	broad.mit.edu	37	7	142001029	142001029	+	RNA	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:142001029C>T	ENST00000455382.2	+	0	195									T cell receptor beta variable 2																		AGTGATCTTGCACTGTGTCCC	0.423																																						ENST00000455382.2																			0																				38.0	37.0	37.0					7																	142001029		1924	4127	6051			28620							g.chr7:142001029C>T	L36092		7q34	2012-02-07			ENSG00000226660	ENSG00000226660		"""T cell receptors / TRB locus"""	12195	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV22S1A2N1T, TCRBV2S1			OTTHUMG00000158532		7.37:g.142001029C>T														0	195	+									RNA	SNP	ENST00000455382.2	37																																																																																						0.423	TRBV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351238.2	NG_001333		6	21	0	0	0	1	0	6	21				
OR1F2P	26184	broad.mit.edu	37	16	3266372	3266372	+	RNA	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3266372C>T	ENST00000576468.1	+	0	418																											ATGGCACCATCATGTCTCCAT	0.522																																						ENST00000576468.1																			0																																																			26184							g.chr16:3266372C>T																													16.37:g.3266372C>T														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.522	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			11	27	0	0	0	1	0	11	27				
ZFP64	55734	broad.mit.edu	37	20	50701539	50701539	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr20:50701539C>G	ENST00000361387.2	-	9	1555	c.1495G>C	c.(1495-1497)Gag>Cag	p.E499Q	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.E280Q	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TAGCTGCACTCTGGACACTTC	0.642																																						ENST00000361387.2																			0				breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(1495-1497)Gag>Cag		ZFP64 zinc finger protein							56.0	58.0	57.0					20																	50701539		2203	4299	6502	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50701539C>G	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1495G>C	20.37:g.50701539C>G	ENSP00000355179:p.Glu499Gln					ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.E280Q	p.E499Q	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN			9	1555	-			347					Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	c.1495G>C	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.776249	0.49786	.	.	ENSG00000020256	ENST00000371523;ENST00000361387	T;T	0.07908	3.18;3.15	4.65	4.65	0.58169	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13286	0.0322	N	0.11673	0.155	0.80722	D	1	D;P	0.63880	0.993;0.836	D;P	0.70227	0.968;0.475	T	0.44345	-0.9334	9	0.24483	T	0.36	.	18.0915	0.89477	0.0:1.0:0.0:0.0	.	499;280	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	Q	280;499	ENSP00000360578:E280Q;ENSP00000355179:E499Q	ENSP00000355179:E499Q	E	-	1	0	ZFP64	50134946	0.774000	0.28592	0.962000	0.40283	0.491000	0.33493	1.349000	0.33998	2.569000	0.86673	0.655000	0.94253	GAG		0.642	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197		38	142	0	0	0	1	0	38	142				
XIST	7503	broad.mit.edu	37	X	73066583	73066583	+	lincRNA	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:73066583G>A	ENST00000429829.1	-	0	6005					NR_001564.2				X inactive specific transcript (non-protein coding)																		GGGAGGCCAAGAAATGGGGCC	0.463																																						ENST00000429829.1																			0																				101.0	89.0	93.0					X																	73066583		876	1991	2867			7503							g.chrX:73066583G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066583G>A								NR_001564.2						0	6005	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.463	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		18	56	0	0	0	1	0	18	56				
OR1F2P	26184	broad.mit.edu	37	16	3265799	3265799	+	RNA	SNP	C	C	T	rs569845629		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3265799C>T	ENST00000576468.1	+	0	418																											ACTTCTTCCTCAGCAACATGT	0.542													c|||	1	0.000199681	0.0	0.0014	5008	,	,		22233	0.0		0.0	False		,,,				2504	0.0					ENST00000576468.1																			0																																																			26184							g.chr16:3265799C>T																													16.37:g.3265799C>T														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.542	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			19	70	0	0	0	1	0	19	70				
DNAH9	1770	broad.mit.edu	37	17	11597683	11597683	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:11597683G>C	ENST00000262442.4	+	22	4859	c.4791G>C	c.(4789-4791)aaG>aaC	p.K1597N	DNAH9_ENST00000454412.2_Missense_Mutation_p.K1597N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	1597	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCGACACCAAGAGGCTTGCCT	0.512																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(4789-4791)aaG>aaC		dynein, axonemal, heavy chain 9							143.0	120.0	128.0					17																	11597683		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11597683G>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.4791G>C	17.37:g.11597683G>C	ENSP00000262442:p.Lys1597Asn					DNAH9_ENST00000454412.2_Missense_Mutation_p.K1597N	p.K1597N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	22	4859	+		Breast(5;0.0122)|all_epithelial(5;0.131)	1597			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.4791G>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459022	0.63401	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.76316	-1.01;-1.01	4.45	0.0506	0.14294	Dynein heavy chain, domain-2 (1);	0.000000	0.85682	D	0.000000	D	0.91932	0.7445	H	0.99705	4.715	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89714	0.3914	10	0.87932	D	0	.	8.8302	0.35080	0.4444:0.0:0.5556:0.0	.	1597	Q9NYC9	DYH9_HUMAN	N	1597;1597;179	ENSP00000262442:K1597N;ENSP00000414874:K1597N	ENSP00000262442:K1597N	K	+	3	2	DNAH9	11538408	1.000000	0.71417	0.993000	0.49108	0.985000	0.73830	1.584000	0.36589	-0.051000	0.13334	-0.136000	0.14681	AAG		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		21	42	0	0	0	1	0	21	42				
VPS52	6293	broad.mit.edu	37	6	33232217	33232217	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:33232217C>T	ENST00000445902.2	-	14	1676	c.1458G>A	c.(1456-1458)atG>atA	p.M486I	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.M361I|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	486					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TCTGAACATTCATCTCCAGGA	0.547																																						ENST00000445902.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(1456-1458)atG>atA		vacuolar protein sorting 52 homolog (S. cerevisiae)							109.0	106.0	107.0					6																	33232217		2203	4300	6503	SO:0001583	missense	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33232217C>T	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.1458G>A	6.37:g.33232217C>T	ENSP00000409952:p.Met486Ile					VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_Missense_Mutation_p.M361I	p.M486I	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN			14	1676	-			486					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Missense_Mutation	SNP	ENST00000445902.2	37	c.1458G>A	CCDS4770.2	.	.	.	.	.	.	.	.	.	.	C	17.58	3.424824	0.62733	.	.	ENSG00000223501	ENST00000445902;ENST00000418054;ENST00000436044	.	.	.	5.19	5.19	0.71726	.	0.040110	0.85682	D	0.000000	T	0.46112	0.1376	M	0.69823	2.125	0.51482	D	0.999924	P;B	0.34639	0.461;0.129	B;B	0.39258	0.295;0.113	T	0.48736	-0.9009	9	0.36615	T	0.2	-29.6961	9.8898	0.41283	0.0:0.9096:0.0:0.0904	.	297;486	B3KMF7;Q8N1B4	.;VPS52_HUMAN	I	486;464;361	.	ENSP00000414785:M464I	M	-	3	0	VPS52	33340195	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.834000	0.62774	2.870000	0.98441	0.637000	0.83480	ATG		0.547	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553		24	109	0	0	0	1	0	24	109				
NLRX1	79671	broad.mit.edu	37	11	119050915	119050915	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:119050915G>A	ENST00000409109.1	+	7	2772	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	NLRX1_ENST00000525863.1_Missense_Mutation_p.E729K|NLRX1_ENST00000409991.1_Missense_Mutation_p.E729K|NLRX1_ENST00000292199.2_Missense_Mutation_p.E729K|NLRX1_ENST00000409265.4_Missense_Mutation_p.E729K	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	729	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGCCCTGGATGAGGTGAACTT	0.627																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(2185-2187)Gag>Aag		NLR family member X1							50.0	47.0	48.0					11																	119050915		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119050915G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2185G>A	11.37:g.119050915G>A	ENSP00000387334:p.Glu729Lys					NLRX1_ENST00000292199.2_Missense_Mutation_p.E729K|NLRX1_ENST00000409265.4_Missense_Mutation_p.E729K|NLRX1_ENST00000469103.2_3'UTR|NLRX1_ENST00000525863.1_Missense_Mutation_p.E729K|NLRX1_ENST00000409991.1_Missense_Mutation_p.E729K	p.E729K			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	7	2772	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	729			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2185G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.124574	0.77436	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.53857	0.6;0.6;0.6;0.6;0.6	5.17	5.17	0.71159	.	0.156340	0.43416	N	0.000563	T	0.62780	0.2456	L	0.34521	1.04	0.49915	D	0.999833	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.57236	-0.7846	10	0.22706	T	0.39	.	18.6724	0.91516	0.0:0.0:1.0:0.0	.	729;729	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	K	729	ENSP00000386851:E729K;ENSP00000292199:E729K;ENSP00000386858:E729K;ENSP00000387334:E729K;ENSP00000433442:E729K	ENSP00000292199:E729K	E	+	1	0	NLRX1	118556125	1.000000	0.71417	0.995000	0.50966	0.680000	0.39746	6.853000	0.75435	2.417000	0.82017	0.313000	0.20887	GAG		0.627	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		24	79	0	0	0	1	0	24	79				
OR1F2P	26184	broad.mit.edu	37	16	3266428	3266428	+	RNA	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3266428C>G	ENST00000576468.1	+	0	418																											GATATAGCAGCTGCTGTGAGG	0.493																																						ENST00000576468.1																			0																																																			26184							g.chr16:3266428C>G																													16.37:g.3266428C>G														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.493	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			5	16	0	0	0	1	0	5	16				
GPR112	139378	broad.mit.edu	37	X	135429020	135429020	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:135429020C>G	ENST00000394143.1	+	6	3446	c.3155C>G	c.(3154-3156)tCa>tGa	p.S1052*	GPR112_ENST00000394141.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1052*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S989*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1052					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCAGATGTCTCAAATCTATCC	0.468																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(3154-3156)tCa>tGa		G protein-coupled receptor 112							251.0	227.0	235.0					X																	135429020		2203	4300	6503	SO:0001587	stop_gained	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429020C>G	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3155C>G	X.37:g.135429020C>G	ENSP00000377699:p.Ser1052*					GPR112_ENST00000394141.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.S847*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.S989*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.S1052*	p.S1052*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	3446	+	Acute lymphoblastic leukemia(192;0.000127)		1052					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Nonsense_Mutation	SNP	ENST00000394143.1	37	c.3155C>G	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	40	8.013307	0.98610	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	.	.	.	2.01	0.0612	0.14339	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	4.3769	0.11275	0.0:0.6076:0.0:0.3924	.	.	.	.	X	1052;1052;847;989;847	.	ENSP00000287534:S989X	S	+	2	0	GPR112	135256686	0.003000	0.15002	0.000000	0.03702	0.019000	0.09904	0.114000	0.15520	-0.091000	0.12440	0.436000	0.28706	TCA		0.468	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			79	249	0	0	0	1	0	79	249				
POLN	353497	broad.mit.edu	37	4	2160929	2160929	+	Missense_Mutation	SNP	G	G	C	rs201765272		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:2160929G>C	ENST00000511885.2	-	14	1917	c.1564C>G	c.(1564-1566)Ctg>Gtg	p.L522V	POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Missense_Mutation_p.L522V			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	522					double-strand break repair via homologous recombination (GO:0000724)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	nucleus (GO:0005634)	cyclin binding (GO:0030332)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			AGGTCTCGCAGAGCATTTAAC	0.328								DNA polymerases (catalytic subunits)																														ENST00000511885.2																			0				kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28						c.(1564-1566)Ctg>Gtg	DNA polymerases (catalytic subunits)	polymerase (DNA directed) nu							101.0	101.0	101.0					4																	2160929		2203	4300	6503	SO:0001583	missense	353497				DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity	g.chr4:2160929G>C	AF044578	CCDS3360.1	4p16.3	2012-05-18			ENSG00000130997	ENSG00000130997		"""DNA polymerases"""	18870	protein-coding gene	gene with protein product		610887				12794064	Standard	NM_181808		Approved		uc003ger.2	Q7Z5Q5	OTTHUMG00000090081	ENST00000511885.2:c.1564C>G	4.37:g.2160929G>C	ENSP00000435506:p.Leu522Val					POLN_ENST00000382865.1_Missense_Mutation_p.L522V|POLN_ENST00000515357.1_5'UTR	p.L522V			Q7Z5Q5	DPOLN_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0955)		14	1917	-			522					A2A336|B4E158|Q4TTW4|Q6ZNF4	Missense_Mutation	SNP	ENST00000511885.2	37	c.1564C>G	CCDS3360.1	.	.	.	.	.	.	.	.	.	.	G	11.04	1.520673	0.27211	.	.	ENSG00000130997	ENST00000511885;ENST00000382865;ENST00000253313	D;D	0.97480	-4.4;-4.4	4.45	0.538	0.17150	DNA-directed DNA polymerase, family A, palm domain (1);	0.182556	0.34088	N	0.004270	D	0.98548	0.9515	H	0.96604	3.85	0.18873	N	0.999987	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.94163	0.7416	10	0.87932	D	0	-9.6602	6.3534	0.21389	0.4731:0.0:0.5269:0.0	.	522;522	E7ERY2;Q7Z5Q5	.;DPOLN_HUMAN	V	522;522;213	ENSP00000435506:L522V;ENSP00000372316:L522V	ENSP00000253313:L213V	L	-	1	2	POLN	2130727	0.935000	0.31712	0.058000	0.19502	0.479000	0.33129	1.086000	0.30853	0.178000	0.19917	-0.355000	0.07637	CTG		0.328	POLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000205684.2	NM_181808		18	59	0	0	0	1	0	18	59				
PDSS2	57107	broad.mit.edu	37	6	107655427	107655427	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:107655427C>T	ENST00000369037.4	-	2	683	c.406G>A	c.(406-408)Gac>Aac	p.D136N	PDSS2_ENST00000453874.2_Missense_Mutation_p.D136N|PDSS2_ENST00000369031.4_Missense_Mutation_p.D136N	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	136					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		CTGACCATGTCATAGTTCTGA	0.463																																						ENST00000369037.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19						c.(406-408)Gac>Aac		prenyl (decaprenyl) diphosphate synthase, subunit 2							106.0	95.0	98.0					6																	107655427		2203	4300	6503	SO:0001583	missense	57107				isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	protein heterodimerization activity	g.chr6:107655427C>T	AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.406G>A	6.37:g.107655427C>T	ENSP00000358033:p.Asp136Asn					PDSS2_ENST00000453874.2_Missense_Mutation_p.D136N|PDSS2_ENST00000369031.4_Missense_Mutation_p.D136N	p.D136N	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)	2	683	-	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	136					Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Missense_Mutation	SNP	ENST00000369037.4	37	c.406G>A	CCDS5059.1	.	.	.	.	.	.	.	.	.	.	C	17.26	3.344395	0.61073	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	T;T;T	0.63255	-0.03;-0.03;-0.03	5.56	5.56	0.83823	Terpenoid synthase (2);	0.213164	0.48767	D	0.000170	T	0.54013	0.1832	M	0.70275	2.135	0.47862	D	0.999536	B;B;B;B	0.29232	0.238;0.18;0.012;0.012	B;B;B;B	0.35312	0.092;0.2;0.018;0.018	T	0.58399	-0.7643	10	0.49607	T	0.09	.	13.4404	0.61109	0.0:0.9252:0.0:0.0748	.	136;136;136;136	B4DKU5;Q86YH6-2;B2RE48;Q86YH6	.;.;.;DLP1_HUMAN	N	136	ENSP00000358033:D136N;ENSP00000399691:D136N;ENSP00000358027:D136N	ENSP00000358027:D136N	D	-	1	0	PDSS2	107762120	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	3.631000	0.54280	2.793000	0.96121	0.561000	0.74099	GAC		0.463	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131954.1	NM_020381		19	70	0	0	0	1	0	19	70				
ZNF736	728927	broad.mit.edu	37	7	63809063	63809063	+	Missense_Mutation	SNP	T	T	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:63809063T>G	ENST00000423484.2	+	4	944	c.822T>G	c.(820-822)aaT>aaG	p.N274K	ZNF736_ENST00000355095.4_Missense_Mutation_p.N274K			B4DX44	ZN736_HUMAN	zinc finger protein 736	274					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(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						ACCTTACTAATCATAAGAGAA	0.378																																						ENST00000355095.4																			0				breast(1)|endometrium(6)|stomach(1)|urinary_tract(1)	9						c.(820-822)aaT>aaG		zinc finger protein 736																																				SO:0001583	missense	728927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:63809063T>G		CCDS55114.1	7q11.21	2013-01-08			ENSG00000234444	ENSG00000234444		"""Zinc fingers, C2H2-type"", ""-"""	32467	protein-coding gene	gene with protein product							Standard	XM_006716104		Approved		uc011kdo.2	B4DX44	OTTHUMG00000156537	ENST00000423484.2:c.822T>G	7.37:g.63809063T>G	ENSP00000400852:p.Asn274Lys					ZNF736_ENST00000423484.1_Missense_Mutation_p.N274K	p.N274K	NM_001170905.1	NP_001164376.1	B4DX44	ZN736_HUMAN			5	1144	+			274						Missense_Mutation	SNP	ENST00000423484.2	37	c.822T>G	CCDS55114.1	.	.	.	.	.	.	.	.	.	.	T	0	-2.597806	0.00125	.	.	ENSG00000234444	ENST00000355095;ENST00000423484	T;T	0.50813	0.73;0.73	1.16	-2.32	0.06745	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12433	0.0302	N	0.01197	-0.965	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13791	-1.0496	9	0.02654	T	1	.	2.7681	0.05327	0.5629:0.0:0.2014:0.2357	.	274	B4DX44	ZN736_HUMAN	K	274	ENSP00000347210:N274K;ENSP00000400852:N274K	ENSP00000347210:N274K	N	+	3	2	ZNF736	63446498	0.000000	0.05858	0.002000	0.10522	0.269000	0.26545	-6.174000	0.00077	-1.551000	0.01706	-0.833000	0.03075	AAT		0.378	ZNF736-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000344559.2	NM_001170905		2	6	0	0	0	1	0	2	6				
BHLHE40	8553	broad.mit.edu	37	3	5025010	5025010	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:5025010G>A	ENST00000256495.3	+	5	1475	c.872G>A	c.(871-873)cGg>cAg	p.R291Q		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	291					circadian regulation of gene expression (GO:0032922)|entrainment of circadian clock by photoperiod (GO:0043153)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|MRF binding (GO:0043426)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						AAAAAGAACCGGATGCAGCTT	0.562																																						ENST00000256495.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						c.(871-873)cGg>cAg		basic helix-loop-helix family, member e40							94.0	92.0	92.0					3																	5025010		2203	4300	6503	SO:0001583	missense	8553					Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr3:5025010G>A	AB004066	CCDS2565.1	3p26	2009-01-12	2009-01-12	2009-01-12	ENSG00000134107	ENSG00000134107		"""Basic helix-loop-helix proteins"""	1046	protein-coding gene	gene with protein product	"""differentially expressed in chondrocytes 1"", "" differentiated embryo chondrocyte expressed gene 1"""	604256	"""basic helix-loop-helix domain containing, class B, 2"""	STRA13, BHLHB2		9240428, 10449910, 18557763	Standard	NM_003670		Approved	DEC1, bHLHe40	uc003bqf.3	O14503	OTTHUMG00000119035	ENST00000256495.3:c.872G>A	3.37:g.5025010G>A	ENSP00000256495:p.Arg291Gln						p.R291Q	NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN			5	1475	+			291					Q96TD3	Missense_Mutation	SNP	ENST00000256495.3	37	c.872G>A	CCDS2565.1	.	.	.	.	.	.	.	.	.	.	G	18.72	3.683517	0.68157	.	.	ENSG00000134107	ENST00000256495	T	0.42900	0.96	5.62	5.62	0.85841	.	0.213581	0.48286	D	0.000195	T	0.64940	0.2644	M	0.69823	2.125	0.58432	D	0.999999	D	0.76494	0.999	D	0.66084	0.941	T	0.66512	-0.5905	10	0.66056	D	0.02	-5.6362	19.6528	0.95823	0.0:0.0:1.0:0.0	.	291	O14503	BHE40_HUMAN	Q	291	ENSP00000256495:R291Q	ENSP00000256495:R291Q	R	+	2	0	BHLHE40	5000010	1.000000	0.71417	0.937000	0.37676	0.110000	0.19582	7.790000	0.85794	2.646000	0.89796	0.655000	0.94253	CGG		0.562	BHLHE40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239244.2	NM_003670		5	90	0	0	0	1	0	5	90				
SGK1	6446	broad.mit.edu	37	6	134492849	134492849	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:134492849G>C	ENST00000237305.7	-	9	896	c.808C>G	c.(808-810)Cat>Gat	p.H270D	SGK1_ENST00000367857.5_Missense_Mutation_p.H260D|SGK1_ENST00000413996.3_Missense_Mutation_p.H284D|SGK1_ENST00000475719.2_Missense_Mutation_p.H226D|SGK1_ENST00000528577.1_Missense_Mutation_p.H298D|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000367858.5_Missense_Mutation_p.H365D	NM_005627.3	NP_005618.2	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	270	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|ion transmembrane transport (GO:0034220)|long-term memory (GO:0007616)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of blood pressure (GO:0008217)|regulation of catalytic activity (GO:0050790)|regulation of cell growth (GO:0001558)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of gastric acid secretion (GO:0060453)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|renal sodium ion absorption (GO:0070294)|response to stress (GO:0006950)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chloride channel regulator activity (GO:0017081)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGCTGCTTATGAAGCACCTCA	0.493																																						ENST00000367858.5																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46						c.(1093-1095)Cat>Gat		serum/glucocorticoid regulated kinase 1							91.0	73.0	79.0					6																	134492849		2203	4300	6503	SO:0001583	missense	6446				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:134492849G>C	AJ000512	CCDS5170.1, CCDS47476.1, CCDS47477.1, CCDS47478.1	6q23	2008-02-05	2007-12-05	2007-12-05	ENSG00000118515	ENSG00000118515			10810	protein-coding gene	gene with protein product		602958	"""serum/glucocorticoid regulated kinase"""	SGK		9114008, 9722955	Standard	NM_005627		Approved		uc003qeo.4	O00141	OTTHUMG00000015613	ENST00000237305.7:c.808C>G	6.37:g.134492849G>C	ENSP00000237305:p.His270Asp					SGK1_ENST00000367857.5_Missense_Mutation_p.H260D|SGK1_ENST00000413996.3_Missense_Mutation_p.H284D|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.H298D|SGK1_ENST00000237305.7_Missense_Mutation_p.H270D|SGK1_ENST00000475719.2_Missense_Mutation_p.H226D	p.H365D	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)	11	1690	-	Colorectal(23;0.221)		270			AGC-kinase C-terminal.		B7UUP7|B7UUP8|B7UUP9|B7Z5B2|E1P583|Q5TCN2|Q5TCN3|Q5TCN4|Q5VY65|Q9UN56	Missense_Mutation	SNP	ENST00000237305.7	37	c.1093C>G	CCDS5170.1	.	.	.	.	.	.	.	.	.	.	G	19.05	3.752270	0.69533	.	.	ENSG00000118515	ENST00000367858;ENST00000413996;ENST00000237305;ENST00000367857;ENST00000528577;ENST00000475719	T;T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11;-0.11	6.03	6.03	0.97812	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.36717	0.0977	N	0.02266	-0.62	0.80722	D	1	B;B;B;B;P;B	0.37500	0.423;0.281;0.134;0.204;0.597;0.243	B;B;B;B;P;B	0.44946	0.247;0.21;0.216;0.158;0.465;0.245	T	0.50550	-0.8815	10	0.33141	T	0.24	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	298;284;226;260;365;270	O00141-5;O00141-3;E9PR89;O00141-4;O00141-2;O00141	.;.;.;.;.;SGK1_HUMAN	D	365;284;270;260;298;226	ENSP00000356832:H365D;ENSP00000396242:H284D;ENSP00000237305:H270D;ENSP00000356831:H260D;ENSP00000434450:H298D;ENSP00000434302:H226D	ENSP00000237305:H270D	H	-	1	0	SGK1	134534542	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.869000	0.99810	2.861000	0.98227	0.655000	0.94253	CAT		0.493	SGK1-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042312.2			8	30	0	0	0	1	0	8	30				
JMJD1C	221037	broad.mit.edu	37	10	64960345	64960345	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:64960345C>T	ENST00000399262.2	-	11	5385	c.5167G>A	c.(5167-5169)Gag>Aag	p.E1723K	JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1541K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1504K|JMJD1C_ENST00000399251.1_Intron	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1723					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GGCCCTATCTCACAGCAGGAG	0.398																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(5167-5169)Gag>Aag		jumonji domain containing 1C							82.0	74.0	77.0					10																	64960345		1846	4108	5954	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64960345C>T	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.5167G>A	10.37:g.64960345C>T	ENSP00000382204:p.Glu1723Lys					JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1541K|JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1504K	p.E1723K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			11	5385	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		1723					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.5167G>A	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	C	36	5.624631	0.96660	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.57436	0.76;0.4;0.76	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.67344	0.2883	L	0.41573	1.285	0.80722	D	1	D;D	0.89917	1.0;0.981	D;P	0.85130	0.997;0.689	T	0.65496	-0.6154	10	0.51188	T	0.08	-15.3139	20.1736	0.98170	0.0:1.0:0.0:0.0	.	1723;1541	Q15652;A0T124	JHD2C_HUMAN;.	K	1723;1504;1541	ENSP00000382204:E1723K;ENSP00000384990:E1504K;ENSP00000444682:E1541K	ENSP00000382204:E1723K	E	-	1	0	JMJD1C	64630351	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.815000	0.86186	2.767000	0.95098	0.557000	0.71058	GAG		0.398	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		10	18	0	0	0	1	0	10	18				
TRIM6	117854	broad.mit.edu	37	11	5626677	5626677	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:5626677G>C	ENST00000278302.5	+	4	770	c.630G>C	c.(628-630)aaG>aaC	p.K210N	TRIM6_ENST00000507320.1_Missense_Mutation_p.K35N|TRIM6_ENST00000445329.1_Missense_Mutation_p.K35N|TRIM6_ENST00000506134.1_Missense_Mutation_p.K35N|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K238N|TRIM6_ENST00000515022.1_Missense_Mutation_p.K35N|TRIM6_ENST00000380107.1_Missense_Mutation_p.K184N|TRIM6_ENST00000380097.3_Missense_Mutation_p.K238N|AC015691.13_ENST00000394793.2_RNA	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6	210					protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGAAGAGAAGAAGGGGCTAC	0.517											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										ENST00000380097.3																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22						c.(712-714)aaG>aaC		tripartite motif containing 6							89.0	89.0	89.0					11																	5626677		2201	4297	6498	SO:0001583	missense	117854							g.chr11:5626677G>C	AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.630G>C	11.37:g.5626677G>C	ENSP00000278302:p.Lys210Asn		OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	627	TRIM6_ENST00000515022.1_Missense_Mutation_p.K35N|AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000445329.1_Missense_Mutation_p.K35N|TRIM6_ENST00000380107.1_Missense_Mutation_p.K184N|TRIM6_ENST00000506134.1_Missense_Mutation_p.K35N|TRIM6_ENST00000278302.5_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.K238N|TRIM6_ENST00000507320.1_Missense_Mutation_p.K35N	p.K238N	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1				Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)	4	956	+		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)						A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Missense_Mutation	SNP	ENST00000278302.5	37	c.714G>C	CCDS31390.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914875	0.33815	.	.	ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000121236;ENSG00000258659;ENSG00000258588	ENST00000278302;ENST00000424369;ENST00000507320;ENST00000380107;ENST00000380097;ENST00000445329;ENST00000396867;ENST00000515022;ENST00000506134;ENST00000337072;ENST00000354852	T;T;T;T;T;T;T;T;T	0.24723	3.37;3.37;3.37;3.37;3.37;3.37;3.37;3.37;1.84	4.87	2.99	0.34606	.	.	.	.	.	T	0.26048	0.0635	M	0.64170	1.965	0.22081	N	0.999379	P;P;B;P;B	0.38504	0.546;0.474;0.244;0.634;0.361	B;B;B;B;B	0.39258	0.205;0.258;0.107;0.295;0.118	T	0.15037	-1.0451	9	0.48119	T	0.1	.	6.276	0.20981	0.2148:0.0:0.7852:0.0	.	35;184;238;238;210	B4DDQ5;E9PFM0;B2RNG4;Q9C030-2;Q9C030	.;.;.;.;TRIM6_HUMAN	N	210;35;35;184;238;35;117;35;35;238;238	ENSP00000278302:K210N;ENSP00000414108:K35N;ENSP00000427704:K35N;ENSP00000369450:K184N;ENSP00000369440:K238N;ENSP00000399215:K35N;ENSP00000421802:K35N;ENSP00000421079:K35N;ENSP00000346916:K238N	ENSP00000278302:K210N	K	+	3	2	TRIM34;TRIM6;TRIM6-TRIM34	5583253	0.488000	0.25996	0.958000	0.39756	0.701000	0.40568	2.299000	0.43611	1.372000	0.46190	0.655000	0.94253	AAG		0.517	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143376.2	NM_001003818		25	71	0	0	0	1	0	25	71				
ZNF536	9745	broad.mit.edu	37	19	31039157	31039157	+	Silent	SNP	T	T	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:31039157T>G	ENST00000355537.3	+	4	2778	c.2631T>G	c.(2629-2631)tcT>tcG	p.S877S		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	877					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGGGCATGTCTTCGGAGGTCC	0.557																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2629-2631)tcT>tcG		zinc finger protein 536							85.0	87.0	87.0					19																	31039157		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31039157T>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2631T>G	19.37:g.31039157T>G							p.S877S	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2778	+	Esophageal squamous(110;0.0834)		877					A2RU18	Silent	SNP	ENST00000355537.3	37	c.2631T>G	CCDS32984.1																																																																																				0.557	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		42	86	0	0	0	1	0	42	86				
TBC1D3P2	440452	broad.mit.edu	37	17	60351457	60351457	+	Silent	SNP	G	G	A	rs4968502	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:60351457G>A	ENST00000602932.1	-	2	234	c.204C>T	c.(202-204)cgC>cgT	p.R68R	TBC1D3P2_ENST00000581291.1_RNA																							CCAACTACCCGCGACCTCTAC	0.537													.|||	1576	0.314696	0.0408	0.4308	5008	,	,		19650	0.6518		0.2714	False		,,,				2504	0.2996					ENST00000602932.1																			0											c.(202-204)cgC>cgT																																						SO:0001819	synonymous_variant	440452							g.chr17:60351457G>A																												ENST00000602932.1:c.204C>T	17.37:g.60351457G>A						TBC1D3P2_ENST00000581291.1_RNA	p.R68R							2	234	-									Silent	SNP	ENST00000602932.1	37	c.204C>T		725	0.33195970695970695	24	0.04878048780487805	127	0.35082872928176795	364	0.6363636363636364	210	0.2770448548812665	.	1.325	-0.598290	0.03744	.	.	ENSG00000188755	ENST00000339120	.	.	.	.	.	.	.	0.296144	0.28151	U	0.016414	T	0.00012	0.0000	.	.	.	.	.	.	P	0.40032	0.699	B	0.33295	0.161	T	0.37361	-0.9709	5	0.07325	T	0.83	.	.	.	.	rs4968502;rs17857478	7	F8WD16	.	V	7	.	ENSP00000339793:A7V	A	-	2	0	AC053481.1	57706239	0.073000	0.21202	0.194000	0.23346	0.195000	0.23768	0.780000	0.26760	0.064000	0.16427	0.064000	0.15345	GCG		0.537	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			15	391	0	0	0	1	0	15	391				
OR5B17	219965	broad.mit.edu	37	11	58125894	58125894	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:58125894G>A	ENST00000357377.3	-	1	648	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AATATGAACAGATAGGAAATC	0.363																																						ENST00000357377.3																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(649-651)Ctg>Ttg		olfactory receptor, family 5, subfamily B, member 17							75.0	70.0	71.0					11																	58125894		2201	4295	6496	SO:0001819	synonymous_variant	219965				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58125894G>A	AB065849	CCDS31548.1	11q12.1	2012-08-09			ENSG00000197786	ENSG00000197786		"""GPCR / Class A : Olfactory receptors"""	15267	protein-coding gene	gene with protein product				OR5B20P			Standard	NM_001005489		Approved		uc010rke.2	Q8NGF7	OTTHUMG00000167465	ENST00000357377.3:c.649C>T	11.37:g.58125894G>A							p.L217L	NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN			1	648	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	217					Q6IEX1	Silent	SNP	ENST00000357377.3	37	c.649C>T	CCDS31548.1																																																																																				0.363	OR5B17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394708.2	NM_001005489		12	51	0	0	0	1	0	12	51				
ADAM23	8745	broad.mit.edu	37	2	207345997	207345997	+	Silent	SNP	C	C	T	rs141683172		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:207345997C>T	ENST00000264377.3	+	3	802	c.474C>T	c.(472-474)ttC>ttT	p.F158F	ADAM23_ENST00000374416.1_Silent_p.F158F|ADAM23_ENST00000374415.3_Silent_p.F158F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	158					cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		TTGAAGCCTTCGGCTCCAAAT	0.383																																					Melanoma(194;1127 2130 19620 24042 27855)	ENST00000264377.3																			0				NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51						c.(472-474)ttC>ttT		ADAM metallopeptidase domain 23		T		0,4406		0,0,2203	63.0	64.0	63.0		474	-10.1	0.2	2	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ADAM23	NM_003812.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		158/833	207345997	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8745				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr2:207345997C>T	AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.474C>T	2.37:g.207345997C>T						ADAM23_ENST00000374415.3_Silent_p.F158F|ADAM23_ENST00000374416.1_Silent_p.F158F	p.F158F	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)	3	802	+			158					A2RU59	Silent	SNP	ENST00000264377.3	37	c.474C>T	CCDS2369.1																																																																																				0.383	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2	NM_003812		12	41	0	0	0	1	0	12	41				
PLXND1	23129	broad.mit.edu	37	3	129290645	129290645	+	Silent	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:129290645G>T	ENST00000324093.4	-	16	3298	c.3120C>A	c.(3118-3120)gcC>gcA	p.A1040A	PLXND1_ENST00000393239.1_Silent_p.A1040A	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1040	IPT/TIG 2.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell migration (GO:0043542)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|positive regulation of protein binding (GO:0032092)|regulation of angiogenesis (GO:0045765)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|synapse assembly (GO:0007416)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)		PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GAGCCGGCAGGGCCCCCTCAG	0.662																																					Ovarian(97;366 1484 3738 22084 39045)	ENST00000393239.1																		PLXND1/TMCC1(4)	0				NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						c.(3118-3120)gcC>gcA		plexin D1							30.0	29.0	30.0					3																	129290645		2200	4296	6496	SO:0001819	synonymous_variant	23129				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr3:129290645G>T	AY116661	CCDS33854.1	3q21.3	2007-05-16			ENSG00000004399	ENSG00000004399		"""Plexins"""	9107	protein-coding gene	gene with protein product		604282				12412018	Standard	NM_015103		Approved	KIAA0620	uc003emx.2	Q9Y4D7	OTTHUMG00000159547	ENST00000324093.4:c.3120C>A	3.37:g.129290645G>T						PLXND1_ENST00000324093.4_Silent_p.A1040A	p.A1040A			Q9Y4D7	PLXD1_HUMAN			16	3298	-			1040			IPT/TIG 2.		A7E2C6|C9JPZ6|Q6PJS9|Q8IZJ2|Q9BTQ2	Silent	SNP	ENST00000324093.4	37	c.3120C>A	CCDS33854.1																																																																																				0.662	PLXND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356132.4	NM_015103		19	45	1	0	1.50039e-11	1	1.58309e-11	19	45				
EPPK1	83481	broad.mit.edu	37	8	144945596	144945596	+	Missense_Mutation	SNP	G	G	A	rs201364082		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144945596G>A	ENST00000525985.1	-	2	1897	c.1826C>T	c.(1825-1827)aCg>aTg	p.T609M				P58107	EPIPL_HUMAN	epiplakin 1	609						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGCAGCCCGTACCCTGCAG	0.657													G|||	1	0.000199681	0.0	0.0	5008	,	,		19046	0.0		0.001	False		,,,				2504	0.0					ENST00000525985.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1825-1827)aCg>aTg		epiplakin 1							27.0	31.0	29.0					8																	144945596		2118	4226	6344	SO:0001583	missense	83481					cytoplasm|cytoskeleton	protein binding|structural molecule activity	g.chr8:144945596G>A	AB051895	CCDS75800.1	8q24.3	2014-09-17				ENSG00000261150			15577	protein-coding gene	gene with protein product	"""epidermal autoantigen 450K"""	607553				11278896, 15671067	Standard	NM_031308		Approved	EPIPL1	uc003zaa.1	P58107		ENST00000525985.1:c.1826C>T	8.37:g.144945596G>A	ENSP00000436337:p.Thr609Met						p.T609M			P58107	EPIPL_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	1897	-	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		609					Q76E58|Q9NSU9	Missense_Mutation	SNP	ENST00000525985.1	37	c.1826C>T		.	.	.	.	.	.	.	.	.	.	G	12.42	1.933891	0.34096	.	.	ENSG00000227184	ENST00000525985	T	0.73575	-0.76	5.37	3.56	0.40772	.	.	.	.	.	D	0.83294	0.5223	M	0.61703	1.905	0.22693	N	0.998843	D	0.89917	1.0	D	0.69824	0.966	T	0.74463	-0.3657	9	0.51188	T	0.08	.	14.0074	0.64473	0.0:0.288:0.7119:0.0	.	609	E9PPU0	.	M	609	ENSP00000436337:T609M	ENSP00000436337:T609M	T	-	2	0	EPPK1	145017584	0.913000	0.31002	0.464000	0.27143	0.039000	0.13416	1.763000	0.38461	0.818000	0.34468	0.655000	0.94253	ACG		0.657	EPPK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382675.1	NM_031308		9	18	0	0	0	1	0	9	18				
LRRC40	55631	broad.mit.edu	37	1	70616830	70616830	+	Missense_Mutation	SNP	T	T	C	rs3180401	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:70616830T>C	ENST00000370952.3	-	13	1577	c.1498A>G	c.(1498-1500)Atc>Gtc	p.I500V		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	500			I -> V (in dbSNP:rs3180401).			membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GAAAGATTGATCGTTTGCAGT	0.294													T|||	18	0.00359425	0.0015	0.0014	5008	,	,		14238	0.0		0.0149	False		,,,				2504	0.0					ENST00000370952.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(1498-1500)Atc>Gtc		leucine rich repeat containing 40		T	VAL/ILE	21,4377	27.2+/-55.0	0,21,2178	58.0	58.0	58.0		1498	5.7	0.9	1	dbSNP_105	58	141,8447	69.0+/-131.5	1,139,4154	yes	missense	LRRC40	NM_017768.4	29	1,160,6332	CC,CT,TT		1.6418,0.4775,1.2475	benign	500/603	70616830	162,12824	2199	4294	6493	SO:0001583	missense	55631							g.chr1:70616830T>C		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.1498A>G	1.37:g.70616830T>C	ENSP00000359990:p.Ile500Val						p.I500V	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			13	1577	-			500		I -> V (in dbSNP:rs3180401).			Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.1498A>G	CCDS646.1	10	0.004578754578754579	1	0.0020325203252032522	0	0.0	0	0.0	9	0.011873350923482849	T	9.540	1.113220	0.20795	0.004775	0.016418	ENSG00000066557	ENST00000370952	T	0.53640	0.61	5.74	5.74	0.90152	.	0.097488	0.64402	D	0.000001	T	0.21590	0.0520	L	0.37561	1.115	0.38436	D	0.946563	B	0.29805	0.257	B	0.23018	0.043	T	0.14309	-1.0477	10	0.51188	T	0.08	.	10.3913	0.44171	0.0:0.0727:0.0:0.9273	rs3180401;rs3210316;rs17414609;rs52834337;rs3180401	500	Q9H9A6	LRC40_HUMAN	V	500	ENSP00000359990:I500V	ENSP00000359990:I500V	I	-	1	0	LRRC40	70389418	0.993000	0.37304	0.911000	0.35937	0.431000	0.31685	2.354000	0.44098	2.168000	0.68352	0.533000	0.62120	ATC		0.294	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		2	14	0	0	0	1	0	2	14				
DNAJC4	3338	broad.mit.edu	37	11	63999401	63999401	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:63999401G>A	ENST00000321685.3	+	3	610	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	DNAJC4_ENST00000355040.4_Missense_Mutation_p.E49K|RP11-783K16.14_ENST00000534988.1_RNA|DNAJC4_ENST00000321460.5_Missense_Mutation_p.E49K|VEGFB_ENST00000309422.2_5'Flank|RP11-783K16.14_ENST00000539963.1_RNA|VEGFB_ENST00000426086.2_5'Flank	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 4	49	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	unfolded protein binding (GO:0051082)			endometrium(1)|lung(1)|prostate(1)	3						CAGCACTGAGGAAGTTAAACG	0.552																																						ENST00000321685.3																			0				endometrium(1)|lung(1)|prostate(1)	3						c.(145-147)Gaa>Aaa		DnaJ (Hsp40) homolog, subfamily C, member 4							87.0	89.0	89.0					11																	63999401		1930	4125	6055	SO:0001583	missense	3338				protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding	g.chr11:63999401G>A	AF012106	CCDS41666.1	11q13	2011-09-02			ENSG00000110011	ENSG00000110011		"""Heat shock proteins / DNAJ (HSP40)"""	5271	protein-coding gene	gene with protein product		604189		HSPF2		9473517, 11147971	Standard	NM_005528		Approved	MCG18	uc001nys.3	Q9NNZ3	OTTHUMG00000167792	ENST00000321685.3:c.145G>A	11.37:g.63999401G>A	ENSP00000396896:p.Glu49Lys					RP11-783K16.14_ENST00000534988.1_RNA|RP11-783K16.14_ENST00000539963.1_RNA|DNAJC4_ENST00000355040.4_Missense_Mutation_p.E49K|DNAJC4_ENST00000321460.5_Missense_Mutation_p.E49K	p.E49K	NM_005528.3	NP_005519.2	Q9NNZ3	DNJC4_HUMAN			3	610	+			49			J.		O14716	Missense_Mutation	SNP	ENST00000321685.3	37	c.145G>A	CCDS41666.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.8|22.8	4.343435|4.343435	0.82022|0.82022	.|.	.|.	ENSG00000110011|ENSG00000110011	ENST00000321685;ENST00000355040;ENST00000321460|ENST00000535246	T;T;T|.	0.77358|.	-1.09;1.59;-1.09|.	5.32|5.32	5.32|5.32	0.75619|0.75619	Heat shock protein DnaJ, N-terminal (5);|.	0.054825|.	0.64402|.	D|.	0.000001|.	T|T	0.78685|0.78685	0.4322|0.4322	M|M	0.85299|0.85299	2.745|2.745	0.52099|0.52099	D|D	0.999947|0.999947	D;D|.	0.76494|.	0.998;0.999|.	D;D|.	0.74023|.	0.967;0.982|.	T|T	0.80723|0.80723	-0.1255|-0.1255	10|5	0.72032|.	D|.	0.01|.	-12.8455|-12.8455	14.8668|14.8668	0.70422|0.70422	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	49;49|.	Q6PIN0;Q9NNZ3|.	.;DNJC4_HUMAN|.	K|E	49|13	ENSP00000396896:E49K;ENSP00000347145:E49K;ENSP00000320548:E49K|.	ENSP00000320548:E49K|.	E|G	+|+	1|2	0|0	DNAJC4|DNAJC4	63755977|63755977	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	4.041000|4.041000	0.57339|0.57339	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	GAA|GGA		0.552	DNAJC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396305.1			27	58	0	0	0	1	0	27	58				
TTN	7273	broad.mit.edu	37	2	179444520	179444520	+	Silent	SNP	A	A	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:179444520A>G	ENST00000591111.1	-	269	62705	c.62481T>C	c.(62479-62481)tgT>tgC	p.C20827C	RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000589042.1_Silent_p.C22468C|TTN_ENST00000342175.6_Silent_p.C13595C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.C19900C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.C13528C|TTN_ENST00000460472.2_Silent_p.C13403C|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	20827	Fibronectin type-III 51. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCAATGCTACAGGATGACT	0.413																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(67402-67404)tgT>tgC		titin							118.0	109.0	112.0					2																	179444520		1888	4110	5998	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179444520A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.62481T>C	2.37:g.179444520A>G						TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000591111.1_Silent_p.C20827C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342175.6_Silent_p.C13595C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.C13528C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Silent_p.C13403C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Silent_p.C19900C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA	p.C22468C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		319	67628	-			20827			Ig-like 116.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.67404T>C																																																																																					0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		14	85	0	0	0	1	0	14	85				
FBXW10	10517	broad.mit.edu	37	17	18653345	18653345	+	Silent	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:18653345G>C	ENST00000395665.4	+	4	1115	c.894G>C	c.(892-894)ctG>ctC	p.L298L	FBXW10_ENST00000308799.4_Silent_p.L327L|FBXW10_ENST00000395667.1_Silent_p.L298L|FBXW10_ENST00000301938.4_Silent_p.L298L			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	298	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						GACACACCCTGAACAAGTGCG	0.537																																						ENST00000308799.4																			0				NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(979-981)ctG>ctC		F-box and WD repeat domain containing 10							39.0	45.0	43.0					17																	18653345		2198	4297	6495	SO:0001819	synonymous_variant	10517							g.chr17:18653345G>C	BC028364	CCDS11199.2, CCDS11199.3, CCDS58524.1	17p11	2013-01-09	2007-02-08	2004-07-21	ENSG00000171931	ENSG00000171931		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1211	protein-coding gene	gene with protein product		611679	"""chromosome 17 open reading frame 1A"", ""F-box and WD-40 domain protein 10"""	C17orf1, C17orf1A		9787083, 7586531	Standard	NM_001267585		Approved	SM2SH2, HREP, Fbw10	uc002guk.3	Q5XX13	OTTHUMG00000059048	ENST00000395665.4:c.894G>C	17.37:g.18653345G>C						FBXW10_ENST00000395665.4_Silent_p.L298L|FBXW10_ENST00000301938.4_Silent_p.L298L|FBXW10_ENST00000395667.1_Silent_p.L298L	p.L327L			Q5XX13	FBW10_HUMAN			3	1200	+			298					C9JRY8|C9JZD7|Q8TC00|Q9H0F0	Silent	SNP	ENST00000395665.4	37	c.981G>C	CCDS11199.3																																																																																				0.537	FBXW10-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313531.2	NM_031456		37	67	0	0	0	1	0	37	67				
ZNF623	9831	broad.mit.edu	37	8	144732088	144732088	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144732088G>A	ENST00000501748.2	+	1	135	c.46G>A	c.(46-48)Gag>Aag	p.E16K	ZNF623_ENST00000458270.2_5'UTR|ZNF623_ENST00000526926.1_5'UTR	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGAACTGGTGAGAAGAAGGT	0.458																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(46-48)Gag>Aag		zinc finger protein 623							110.0	96.0	101.0					8																	144732088		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732088G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.46G>A	8.37:g.144732088G>A	ENSP00000445979:p.Glu16Lys					ZNF623_ENST00000526926.1_5'UTR|ZNF623_ENST00000458270.2_5'UTR	p.E16K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	135	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		16					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.46G>A	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	9.647	1.140633	0.21205	.	.	ENSG00000183309	ENST00000532796;ENST00000501748	T	0.07021	3.23	3.5	0.75	0.18387	.	.	.	.	.	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39901	-0.9591	9	0.56958	D	0.05	.	5.992	0.19472	0.4627:0.0:0.5373:0.0	.	16	O75123	ZN623_HUMAN	K	16	ENSP00000445979:E16K	ENSP00000445979:E16K	E	+	1	0	ZNF623	144803231	0.000000	0.05858	0.000000	0.03702	0.612000	0.37316	-0.281000	0.08456	0.153000	0.19213	-0.136000	0.14681	GAG		0.458	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		21	68	0	0	0	1	0	21	68				
KIAA1407	57577	broad.mit.edu	37	3	113697072	113697072	+	Missense_Mutation	SNP	G	G	T	rs202109497	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:113697072G>T	ENST00000295878.3	-	16	2713	c.2567C>A	c.(2566-2568)tCt>tAt	p.S856Y		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	856										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTGCCCTGAGAATCGATCTT	0.408																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2566-2568)tCt>tAt		KIAA1407							132.0	127.0	129.0					3																	113697072		2203	4300	6503	SO:0001583	missense	57577							g.chr3:113697072G>T	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2567C>A	3.37:g.113697072G>T	ENSP00000295878:p.Ser856Tyr						p.S856Y	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			16	2713	-			856					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2567C>A	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	10.66	1.414040	0.25465	.	.	ENSG00000163617	ENST00000295878	T	0.30448	1.53	4.75	0.288	0.15719	.	1.272420	0.05125	N	0.491419	T	0.23886	0.0578	M	0.63428	1.95	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.22452	-1.0216	10	0.06625	T	0.88	.	0.8056	0.01083	0.2978:0.1486:0.3802:0.1733	.	856	Q8NCU4	K1407_HUMAN	Y	856	ENSP00000295878:S856Y	ENSP00000295878:S856Y	S	-	2	0	KIAA1407	115179762	0.000000	0.05858	0.000000	0.03702	0.860000	0.49131	0.224000	0.17738	0.128000	0.18479	-0.284000	0.09977	TCT		0.408	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		26	88	1	0	5.77227e-19	1	6.13876e-19	26	88				
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:51093329C>T	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584	A-domain.				carbohydrate metabolic process (GO:0005975)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	poly(ADP-ribose) glycohydrolase activity (GO:0004649)	p.A584T(1)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318																																						ENST00000402038.3																			1	Substitution - Missense(1)	p.A584T(1)	kidney(1)	endometrium(5)|kidney(2)|lung(1)|ovary(2)	10						c.(295-297)Gca>Aca		poly (ADP-ribose) glycohydrolase							235.0	183.0	198.0					10																	51093329		692	1589	2281	SO:0001583	missense	8505				carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	g.chr10:51093329C>T	AF005043	CCDS73130.1	10q11.23	2012-04-20			ENSG00000227345	ENSG00000227345	3.2.1.143		8605	protein-coding gene	gene with protein product		603501				9115250, 10449915	Standard	NM_003631		Approved		uc001jif.3	Q86W56	OTTHUMG00000018201	ENST00000402038.3:c.295G>A	10.37:g.51093329C>T	ENSP00000384408:p.Ala99Thr						p.A99T	NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN		Epithelial(53;0.213)	4	294	-			584					A5YBK3|B2RC24|B4DIU5|B4DYR4|I6RUV3|Q6E4P6|Q6E4P7|Q7Z742|Q9Y4W7	Missense_Mutation	SNP	ENST00000402038.3	37	c.295G>A		.	.	.	.	.	.	.	.	.	.	C	12.89	2.073258	0.36566	.	.	ENSG00000227345	ENST00000402038	.	.	.	3.88	2.96	0.34315	.	.	.	.	.	T	0.46678	0.1405	M	0.61703	1.905	.	.	.	B;B;P;P;P;B	0.41947	0.002;0.003;0.574;0.766;0.766;0.006	B;B;B;B;B;B	0.38616	0.006;0.006;0.191;0.179;0.277;0.01	T	0.56631	-0.7947	7	0.18710	T	0.47	-4.0352	11.9338	0.52862	0.0:0.9123:0.0:0.0877	.	502;584;135;99;124;584	Q86W56-2;Q86W56;A5YBK3;Q5SQP4;B4DX76;Q0MQR4	.;PARG_HUMAN;.;.;.;.	T	99	.	ENSP00000384408:A99T	A	-	1	0	PARG	50763335	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.907000	0.39897	0.952000	0.37798	0.407000	0.27541	GCA		0.318	PARG-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048011.2	NM_003631		4	59	0	0	0	1	0	4	59				
N4BP2L1	90634	broad.mit.edu	37	13	32981423	32981423	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:32981423G>A	ENST00000380133.2	-	3	410	c.360C>T	c.(358-360)aaC>aaT	p.N120N	N4BP2L1_ENST00000380139.4_Silent_p.N120N|N4BP2L1_ENST00000380130.2_Silent_p.N120N|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000530622.2_Silent_p.N14N			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	120										large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AGGCGTGGAGGTTGGTATTAT	0.398																																						ENST00000380130.2																			0				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						c.(358-360)aaC>aaT		NEDD4 binding protein 2-like 1							193.0	171.0	178.0					13																	32981423		2203	4300	6503	SO:0001819	synonymous_variant	90634				cell killing		ATP binding	g.chr13:32981423G>A	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.360C>T	13.37:g.32981423G>A						N4BP2L1_ENST00000530622.2_Silent_p.N14N|N4BP2L1_ENST00000459716.1_5'UTR|N4BP2L1_ENST00000380139.4_Silent_p.N120N|N4BP2L1_ENST00000380133.2_Silent_p.N120N	p.N120N	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)	3	455	-		Lung SC(185;0.0262)	120					A4QN21|Q5TBK0	Silent	SNP	ENST00000380133.2	37	c.360C>T	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	G	8.092	0.774751	0.16051	.	.	ENSG00000139597	ENST00000343281	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	T	0.64371	0.2592	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62369	-0.6869	4	.	.	.	.	12.4178	0.55504	0.0769:0.0:0.9231:0.0	.	.	.	.	S	98	.	.	P	-	1	0	N4BP2L1	31879423	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.965000	0.63708	2.523000	0.85059	0.655000	0.94253	CCT		0.398	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818		15	77	0	0	0	1	0	15	77				
GPR112	139378	broad.mit.edu	37	X	135432497	135432497	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:135432497C>T	ENST00000394143.1	+	6	6923	c.6632C>T	c.(6631-6633)cCa>cTa	p.P2211L	GPR112_ENST00000394141.1_Missense_Mutation_p.P2006L|GPR112_ENST00000370652.1_Missense_Mutation_p.P2211L|GPR112_ENST00000412101.1_Missense_Mutation_p.P2006L|GPR112_ENST00000287534.4_Missense_Mutation_p.P2148L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2211					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGTCTTCACCAATATCGTCC	0.448																																						ENST00000394143.1																			0				NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(6631-6633)cCa>cTa		G protein-coupled receptor 112							188.0	157.0	167.0					X																	135432497		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135432497C>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.6632C>T	X.37:g.135432497C>T	ENSP00000377699:p.Pro2211Leu					GPR112_ENST00000394141.1_Missense_Mutation_p.P2006L|GPR112_ENST00000412101.1_Missense_Mutation_p.P2006L|GPR112_ENST00000287534.4_Missense_Mutation_p.P2148L|GPR112_ENST00000370652.1_Missense_Mutation_p.P2211L	p.P2211L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN			6	6923	+	Acute lymphoblastic leukemia(192;0.000127)		2211					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.6632C>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	c	0.001	-2.960145	0.00049	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.26660	1.75;1.75;1.72;1.94;1.72	3.01	-0.978	0.10279	.	.	.	.	.	T	0.08179	0.0204	N	0.02916	-0.46	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33727	-0.9857	9	0.22109	T	0.4	.	2.911	0.05737	0.0:0.3192:0.246:0.4348	.	2148;2006;2211	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	L	2211;2211;2006;2148;2006	ENSP00000377699:P2211L;ENSP00000359686:P2211L;ENSP00000416526:P2006L;ENSP00000287534:P2148L;ENSP00000377697:P2006L	ENSP00000287534:P2148L	P	+	2	0	GPR112	135260163	0.001000	0.12720	0.007000	0.13788	0.166000	0.22503	0.097000	0.15168	-0.294000	0.08973	-0.430000	0.05897	CCA		0.448	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			35	108	0	0	0	1	0	35	108				
RB1	5925	broad.mit.edu	37	13	48955544	48955544	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:48955544G>A	ENST00000267163.4	+	17	1798	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	554	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AGAACGATGTGAACATCGAAT	0.323		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												ENST00000267163.4		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	"""D, Mis, N, F, S"""	retinoblastoma gene			"""L, E, M, O"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""		24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	p.0?(15)|p.?(8)|p.C553fs*53(1)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|ovary(1)	NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496	GRCh37	CM961231	RB1	M		c.(1660-1662)Gaa>Aaa		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						85.0	79.0	81.0					13																	48955544		2203	4300	6503	SO:0001583	missense	5925	Hereditary Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48955544G>A	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1660G>A	13.37:g.48955544G>A	ENSP00000267163:p.Glu554Lys	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.E554K	NM_000321.2	NP_000312.2	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	17	1798	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	554			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	c.1660G>A	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	34	5.358443	0.95854	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.96774	-4.12	5.34	5.34	0.76211	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.000000	0.85682	D	0.000000	D	0.98308	0.9439	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99293	1.0899	10	0.87932	D	0	.	19.0281	0.92941	0.0:0.0:1.0:0.0	.	554	P06400	RB_HUMAN	K	533;554	ENSP00000267163:E554K	ENSP00000267163:E554K	E	+	1	0	RB1	47853545	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.471000	0.97696	2.488000	0.83962	0.650000	0.86243	GAA		0.323	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1			7	28	0	0	0	1	0	7	28				
THSD1	55901	broad.mit.edu	37	13	52960272	52960272	+	Silent	SNP	C	C	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr13:52960272C>A	ENST00000258613.4	-	4	1249	c.1071G>T	c.(1069-1071)ggG>ggT	p.G357G	THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	357	TSP type-1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TGACACCATCCCCACATGTGG	0.527																																						ENST00000258613.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1069-1071)ggG>ggT		thrombospondin, type I, domain containing 1							186.0	179.0	182.0					13																	52960272		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52960272C>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1071G>T	13.37:g.52960272C>A						THSD1_ENST00000349258.4_Intron|THSD1_ENST00000544466.1_5'UTR	p.G357G	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	4	1249	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	357			TSP type-1.		A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.1071G>T	CCDS9432.1																																																																																				0.527	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			26	140	1	0	1.7367e-05	1	1.79013e-05	26	140				
CHUK	1147	broad.mit.edu	37	10	101961844	101961844	+	Splice_Site	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr10:101961844C>T	ENST00000370397.7	-	14	1656		c.e14+1			NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase						anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	AATGATTTTACCTCAGCATAG	0.313																																					Ovarian(159;52 1904 10536 35305 37148)	ENST00000370397.7																			1	Unknown(1)	p.?(1)	central_nervous_system(1)	breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27						c.e14+1		conserved helix-loop-helix ubiquitous kinase							227.0	203.0	211.0					10																	101961844		2202	4300	6502	SO:0001630	splice_region_variant	1147				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity	g.chr10:101961844C>T	AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.1569+1G>A	10.37:g.101961844C>T								NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	14	1656	-		Colorectal(252;0.117)						O14666|Q13132|Q5W0I4|Q92467	Splice_Site	SNP	ENST00000370397.7	37		CCDS7488.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.645843	0.87958	.	.	ENSG00000213341	ENST00000370397	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4134	0.87493	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CHUK	101951834	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.203000	0.65174	2.708000	0.92522	0.650000	0.86243	.		0.313	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049836.1	NM_001278	Intron	20	43	0	0	0	1	0	20	43				
ABCA5	23461	broad.mit.edu	37	17	67260974	67260974	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:67260974C>G	ENST00000392676.3	-	24	3281	c.3217G>C	c.(3217-3219)Gat>Cat	p.D1073H	ABCA5_ENST00000588877.1_Missense_Mutation_p.D1073H|ABCA5_ENST00000392677.2_Missense_Mutation_p.D1074H			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1073					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AAGGGGATATCAACAACAGCT	0.294																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(3217-3219)Gat>Cat		ATP-binding cassette, sub-family A (ABC1), member 5							62.0	65.0	64.0					17																	67260974		2203	4297	6500	SO:0001583	missense	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67260974C>G	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3217G>C	17.37:g.67260974C>G	ENSP00000376443:p.Asp1073His					ABCA5_ENST00000588877.1_Missense_Mutation_p.D1073H|ABCA5_ENST00000392677.2_Missense_Mutation_p.D1074H	p.D1073H			Q8WWZ7	ABCA5_HUMAN			24	3281	-	Breast(10;3.72e-11)		1073					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	ENST00000392676.3	37	c.3217G>C	CCDS11685.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545267	0.86022	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.88201	-2.35;-2.35	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000021	D	0.94089	0.8105	M	0.82823	2.61	0.80722	D	1	D	0.52996	0.957	P	0.59546	0.859	D	0.94051	0.7318	9	.	.	.	.	18.8117	0.92059	0.0:1.0:0.0:0.0	.	1073	Q8WWZ7	ABCA5_HUMAN	H	1074;1073	ENSP00000376444:D1074H;ENSP00000376443:D1073H	.	D	-	1	0	ABCA5	64772569	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	6.912000	0.75753	2.526000	0.85167	0.462000	0.41574	GAT		0.294	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		11	36	0	0	0	1	0	11	36				
KLHL4	56062	broad.mit.edu	37	X	86890598	86890598	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:86890598G>T	ENST00000373119.4	+	9	1893	c.1748G>T	c.(1747-1749)tGc>tTc	p.C583F	KLHL4_ENST00000373114.4_Missense_Mutation_p.C583F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	583						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGAAGTTCCTGCCTCAAATCA	0.393																																						ENST00000373119.4																			0				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						c.(1747-1749)tGc>tTc		kelch-like family member 4							121.0	101.0	107.0					X																	86890598		2203	4300	6503	SO:0001583	missense	56062					cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	g.chrX:86890598G>T	AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1748G>T	X.37:g.86890598G>T	ENSP00000362211:p.Cys583Phe					KLHL4_ENST00000373114.4_Missense_Mutation_p.C583F	p.C583F	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN			9	1893	+			583					B2RTW2|Q9Y3J5	Missense_Mutation	SNP	ENST00000373119.4	37	c.1748G>T	CCDS14457.1	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598653	0.66332	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.76060	-0.99;-0.99	4.44	4.44	0.53790	Galactose oxidase, beta-propeller (1);	0.101734	0.64402	D	0.000002	T	0.79131	0.4394	L	0.33339	1.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.77996	-0.2377	10	0.34782	T	0.22	.	15.4132	0.74943	0.0:0.0:1.0:0.0	.	583;583	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	F	583	ENSP00000362211:C583F;ENSP00000362206:C583F	ENSP00000362206:C583F	C	+	2	0	KLHL4	86777254	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	8.896000	0.92521	2.173000	0.68751	0.513000	0.50165	TGC		0.393	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057413.1			8	31	1	0	2.80697e-09	1	2.93855e-09	8	31				
NXPH1	30010	broad.mit.edu	37	7	8791010	8791010	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:8791010G>C	ENST00000405863.1	+	3	1338	c.427G>C	c.(427-429)Gat>Cat	p.D143H	NXPH1_ENST00000602349.1_Missense_Mutation_p.D26H|NXPH1_ENST00000497400.1_3'UTR	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	143	III.					extracellular region (GO:0005576)				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GAAAATTGTAGATCATGGCAA	0.388																																						ENST00000405863.1																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17						c.(427-429)Gat>Cat		neurexophilin 1							87.0	87.0	87.0					7																	8791010		1882	4120	6002	SO:0001583	missense	30010					extracellular region		g.chr7:8791010G>C	AB047362	CCDS47540.1	7p22	2003-03-20			ENSG00000122584	ENSG00000122584			20693	protein-coding gene	gene with protein product		604639				9570794	Standard	NM_152745		Approved		uc003srv.3	P58417	OTTHUMG00000151941	ENST00000405863.1:c.427G>C	7.37:g.8791010G>C	ENSP00000384551:p.Asp143His					NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.D26H	p.D143H	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)	3	1338	+		Ovarian(82;0.0628)	143			III.		Q8NB31	Missense_Mutation	SNP	ENST00000405863.1	37	c.427G>C	CCDS47540.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662700	0.67700	.	.	ENSG00000122584	ENST00000405863;ENST00000417186;ENST00000429542	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.85173	0.5636	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85636	0.1273	9	0.87932	D	0	-14.8471	20.8794	0.99867	0.0:0.0:1.0:0.0	.	143	P58417	NXPH1_HUMAN	H	143;26;143	.	ENSP00000384551:D143H	D	+	1	0	NXPH1	8757535	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.835000	0.99442	2.941000	0.99782	0.655000	0.94253	GAT		0.388	NXPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324591.1	NM_152745		17	47	0	0	0	1	0	17	47				
OR5D14	219436	broad.mit.edu	37	11	55563802	55563802	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:55563802C>G	ENST00000335605.1	+	1	771	c.771C>G	c.(769-771)atC>atG	p.I257M		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	257						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGGGACCATCCTTTTCCTTT	0.483																																						ENST00000335605.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48						c.(769-771)atC>atG		olfactory receptor, family 5, subfamily D, member 14							94.0	86.0	89.0					11																	55563802		2200	4296	6496	SO:0001583	missense	219436				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55563802C>G	AB065779	CCDS31508.1	11q11	2012-08-09			ENSG00000186113	ENSG00000186113		"""GPCR / Class A : Olfactory receptors"""	15281	protein-coding gene	gene with protein product							Standard	NM_001004735		Approved		uc010rim.2	Q8NGL3	OTTHUMG00000166809	ENST00000335605.1:c.771C>G	11.37:g.55563802C>G	ENSP00000334456:p.Ile257Met						p.I257M	NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN			1	771	+		all_epithelial(135;0.196)	257					Q6IF69|Q6IFD4|Q96RB5	Missense_Mutation	SNP	ENST00000335605.1	37	c.771C>G	CCDS31508.1	.	.	.	.	.	.	.	.	.	.	c	10.26	1.301774	0.23736	.	.	ENSG00000186113	ENST00000335605	T	0.00179	8.61	5.08	-4.17	0.03857	GPCR, rhodopsin-like superfamily (1);	0.000000	0.44688	D	0.000439	T	0.00210	0.0006	L	0.58583	1.82	0.09310	N	1	P	0.46020	0.871	P	0.50490	0.642	T	0.49273	-0.8957	10	0.54805	T	0.06	-27.6514	3.7845	0.08694	0.5611:0.1982:0.1:0.1407	.	257	Q8NGL3	OR5DE_HUMAN	M	257	ENSP00000334456:I257M	ENSP00000334456:I257M	I	+	3	3	OR5D14	55320378	0.000000	0.05858	0.457000	0.27056	0.106000	0.19336	-3.678000	0.00395	-0.789000	0.04498	-0.195000	0.12781	ATC		0.483	OR5D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391513.1	NM_001004735		19	68	0	0	0	1	0	19	68				
PAX7	5081	broad.mit.edu	37	1	19062154	19062154	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:19062154C>T	ENST00000375375.3	+	8	1782	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	PAX7_ENST00000420770.2_Missense_Mutation_p.A395V|PAX7_ENST00000400661.3_Missense_Mutation_p.A393V	NM_002584.2|NM_013945.2	NP_002575.1|NP_039236.1	P23759	PAX7_HUMAN	paired box 7	395					anatomical structure morphogenesis (GO:0009653)|cartilage development (GO:0051216)|chromatin remodeling (GO:0006338)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic skeletal system development (GO:0048706)|muscle tissue morphogenesis (GO:0060415)|negative regulation of apoptotic process (GO:0043066)|neuron fate commitment (GO:0048663)|positive regulation of histone methylation (GO:0031062)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell fate commitment (GO:0010453)|regulation of protein binding (GO:0043393)|skeletal muscle satellite cell commitment (GO:0014813)|skeletal muscle tissue regeneration (GO:0043403)|spinal cord association neuron differentiation (GO:0021527)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		AACCCCAGTGCGGTGCCCCCG	0.652			T	FOXO1A	alveolar rhabdomyosarcoma																																	ENST00000420770.2				Dom	yes		1	1p36.2-p36.12	5081	T	paired box gene 7			M	FOXO1A		alveolar rhabdomyosarcoma	PAX7/FOXO1(197)	0				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31						c.(1183-1185)gCg>gTg		paired box 7							56.0	56.0	56.0					1																	19062154		2203	4300	6503	SO:0001583	missense	5081				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:19062154C>T	X96743	CCDS186.1, CCDS44074.1, CCDS44075.1	1p36.13	2011-06-20	2007-07-12		ENSG00000009709	ENSG00000009709		"""Paired boxes"", ""Homeoboxes / PRD class"""	8621	protein-coding gene	gene with protein product		167410	"""paired box gene 7"""			7981748, 8431641	Standard	NM_001135254		Approved	Hup1	uc001bay.3	P23759	OTTHUMG00000002433	ENST00000375375.3:c.1184C>T	1.37:g.19062154C>T	ENSP00000364524:p.Ala395Val					PAX7_ENST00000400661.3_Missense_Mutation_p.A393V|PAX7_ENST00000375375.3_Missense_Mutation_p.A395V	p.A395V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)	8	1267	+		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)	395					E9PFV9|Q0VA99|Q2PJS5	Missense_Mutation	SNP	ENST00000375375.3	37	c.1184C>T	CCDS186.1	.	.	.	.	.	.	.	.	.	.	C	14.09	2.432908	0.43224	.	.	ENSG00000009709	ENST00000375375;ENST00000420770;ENST00000400661	D;D;D	0.95035	-3.58;-3.56;-3.59	4.44	3.43	0.39272	.	0.726417	0.12617	N	0.453344	D	0.90954	0.7156	L	0.48642	1.525	0.35487	D	0.798663	P;P;P	0.49635	0.873;0.926;0.9	B;B;B	0.40534	0.256;0.332;0.288	D	0.91514	0.5229	10	0.42905	T	0.14	.	10.7223	0.46046	0.0:0.587:0.413:0.0	.	395;393;395	E9PFV9;P23759-2;P23759	.;.;PAX7_HUMAN	V	395;395;393	ENSP00000364524:A395V;ENSP00000403389:A395V;ENSP00000383502:A393V	ENSP00000364524:A395V	A	+	2	0	PAX7	18934741	0.998000	0.40836	0.904000	0.35570	0.883000	0.51084	3.260000	0.51523	2.179000	0.69175	0.561000	0.74099	GCG		0.652	PAX7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000006928.1	NM_002584		11	107	0	0	0	1	0	11	107				
ZNF142	7701	broad.mit.edu	37	2	219508100	219508100	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:219508100C>G	ENST00000449707.1	-	8	3560	c.3139G>C	c.(3139-3141)Gaa>Caa	p.E1047Q	ZNF142_ENST00000411696.2_Missense_Mutation_p.E1047Q	NM_001105537.1	NP_001099007.1	P52746	ZN142_HUMAN	zinc finger protein 142	1047					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(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCAGCCTTCAGCCACGTGA	0.612																																					Colon(170;867 1942 8995 15834 18053)	ENST00000411696.2																			0				breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(3139-3141)Gaa>Caa		zinc finger protein 142							46.0	52.0	50.0					2																	219508100		1917	4119	6036	SO:0001583	missense	7701				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:219508100C>G	U09849	CCDS42817.1	2q35	2013-01-08	2006-06-13		ENSG00000115568	ENSG00000115568		"""Zinc fingers, C2H2-type"""	12927	protein-coding gene	gene with protein product		604083	"""zinc finger protein 142 (clone pHZ-49)"""				Standard	NM_001105537		Approved	KIAA0236, pHZ-49	uc002vin.4	P52746	OTTHUMG00000154736	ENST00000449707.1:c.3139G>C	2.37:g.219508100C>G	ENSP00000408643:p.Glu1047Gln					ZNF142_ENST00000449707.1_Missense_Mutation_p.E1047Q	p.E1047Q			P52746	ZN142_HUMAN		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	7	3918	-		Renal(207;0.0474)	1047					Q92510	Missense_Mutation	SNP	ENST00000449707.1	37	c.3139G>C	CCDS42817.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625470	0.46840	.	.	ENSG00000115568	ENST00000449707;ENST00000411696	T;T	0.13196	2.61;2.61	4.76	4.76	0.60689	.	0.395271	0.28114	N	0.016546	T	0.14056	0.0340	L	0.29908	0.895	0.36744	D	0.882392	P;P	0.48294	0.908;0.732	P;P	0.45406	0.479;0.479	T	0.15665	-1.0429	10	0.16896	T	0.51	-17.383	18.3094	0.90194	0.0:1.0:0.0:0.0	.	1047;884	P52746;A8MWU9	ZN142_HUMAN;.	Q	1047	ENSP00000408643:E1047Q;ENSP00000398798:E1047Q	ENSP00000398798:E1047Q	E	-	1	0	ZNF142	219216344	0.922000	0.31269	0.991000	0.47740	0.349000	0.29174	3.540000	0.53611	2.638000	0.89438	0.655000	0.94253	GAA		0.612	ZNF142-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336833.1	NM_005081		30	51	0	0	0	1	0	30	51				
CEP152	22995	broad.mit.edu	37	15	49052436	49052436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:49052436G>A	ENST00000380950.2	-	19	2777	c.2590C>T	c.(2590-2592)Cag>Tag	p.Q864*	CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q771*|CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q864*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	864					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AGCCATCGCTGATGAGCATTT	0.413																																						ENST00000380950.2																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63						c.(2590-2592)Cag>Tag		centrosomal protein 152kDa							130.0	124.0	126.0					15																	49052436		1886	4109	5995	SO:0001587	stop_gained	22995				centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding	g.chr15:49052436G>A	AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.2590C>T	15.37:g.49052436G>A	ENSP00000370337:p.Gln864*					CEP152_ENST00000399334.3_Nonsense_Mutation_p.Q864*|CEP152_ENST00000325747.5_Nonsense_Mutation_p.Q771*	p.Q864*	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)	19	2777	-		all_lung(180;0.0428)	864					E7ER66|Q17RV1|Q6NTA0	Nonsense_Mutation	SNP	ENST00000380950.2	37	c.2590C>T	CCDS58361.1	.	.	.	.	.	.	.	.	.	.	G	36	5.864332	0.97043	.	.	ENSG00000103995	ENST00000380950;ENST00000325747;ENST00000399334	.	.	.	4.66	1.29	0.21616	.	0.985327	0.08307	N	0.965990	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-1.8136	1.9457	0.03356	0.1026:0.275:0.2984:0.324	.	.	.	.	X	864;771;864	.	ENSP00000321000:Q771X	Q	-	1	0	CEP152	46839728	0.000000	0.05858	0.618000	0.29105	0.272000	0.26649	0.402000	0.20965	0.486000	0.27676	0.655000	0.94253	CAG		0.413	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417365.1	NM_014985		25	81	0	0	0	1	0	25	81				
CNTNAP5	129684	broad.mit.edu	37	2	125261982	125261982	+	Silent	SNP	G	G	A	rs542072119		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:125261982G>A	ENST00000431078.1	+	8	1537	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	391	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGCTCTCAGTGAGTTTCCAGT	0.557													G|||	1	0.000199681	0.0	0.0	5008	,	,		15245	0.0		0.0	False		,,,				2504	0.001					ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(1171-1173)gtG>gtA		contactin associated protein-like 5							80.0	76.0	78.0					2																	125261982		1892	4131	6023	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125261982G>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1173G>A	2.37:g.125261982G>A							p.V391V	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	8	1537	+			391			Laminin G-like 2.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.1173G>A	CCDS46401.1																																																																																				0.557	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			6	81	0	0	0	1	0	6	81				
WAS	7454	broad.mit.edu	37	X	48544018	48544018	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:48544018G>C	ENST00000376701.4	+	3	431	c.356G>C	c.(355-357)gGa>gCa	p.G119A	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	119	WH1. {ECO:0000255|PROSITE- ProRule:PRU00410}.				actin filament polymerization (GO:0030041)|actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|blood coagulation (GO:0007596)|defense response (GO:0006952)|endosomal transport (GO:0016197)|epidermis development (GO:0008544)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|regulation of catalytic activity (GO:0050790)|T cell activation (GO:0042110)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|vesicle membrane (GO:0012506)	identical protein binding (GO:0042802)|phospholipase binding (GO:0043274)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|small GTPase regulator activity (GO:0005083)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				ACCTTCGCTGGAGATGTAAGT	0.607			"""Mis, N, F, S"""			lymphoma																																ENST00000376701.4				X-linked recessive		Wiskott-Aldrich syndrome	X	Xp11.23-p11.22	7454	"""Mis, N, F, S"""	Wiskott-Aldrich syndrome			L		lymphoma			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28	GRCh37	CM961456	WAS	M		c.(355-357)gGa>gCa		Wiskott-Aldrich syndrome							63.0	42.0	49.0					X																	48544018		2201	4290	6491	SO:0001583	missense	7454				blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity	g.chrX:48544018G>C	AF115548	CCDS14303.1	Xp11.4-p11.21	2014-09-17	2012-07-12		ENSG00000015285	ENSG00000015285			12731	protein-coding gene	gene with protein product	"""eczema-thrombocytopenia"""	300392	"""thrombocytopenia 1 (X-linked)"", ""Wiskott-Aldrich syndrome (eczema-thrombocytopenia)"""	IMD2, THC		7795648	Standard	NM_000377		Approved	WASP	uc004dkm.4	P42768	OTTHUMG00000034483	ENST00000376701.4:c.356G>C	X.37:g.48544018G>C	ENSP00000365891:p.Gly119Ala					WAS_ENST00000483750.1_3'UTR	p.G119A	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN			3	431	+		all_lung(315;1.27e-10)	119			WH1.		Q9BU11|Q9UNJ9	Missense_Mutation	SNP	ENST00000376701.4	37	c.356G>C	CCDS14303.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898909	0.52227	.	.	ENSG00000015285	ENST00000450772;ENST00000376701	D;D	0.98762	-5.12;-5.12	5.03	4.1	0.47936	EVH1 (3);Pleckstrin homology-type (1);	0.275476	0.34484	N	0.003921	D	0.96262	0.8781	N	0.16266	0.395	0.35830	D	0.825258	P	0.52692	0.955	P	0.51016	0.656	D	0.96101	0.9069	10	0.31617	T	0.26	-8.387	9.6542	0.39917	0.0:0.207:0.793:0.0	.	119	P42768	WASP_HUMAN	A	119	ENSP00000410537:G119A;ENSP00000365891:G119A	ENSP00000365891:G119A	G	+	2	0	WAS	48428962	0.996000	0.38824	1.000000	0.80357	0.926000	0.56050	1.960000	0.40422	2.097000	0.63578	0.464000	0.42555	GGA		0.607	WAS-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083379.1	NM_000377		5	18	0	0	0	1	0	5	18				
RAB6C-AS1	100131320	broad.mit.edu	37	2	130725787	130725787	+	RNA	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:130725787G>A	ENST00000412425.1	-	0	831					NR_036537.1																						ACACAAAAAAGATGAGGATGA	0.428																																						ENST00000412425.1																			0																																																			100131320							g.chr2:130725787G>A																													2.37:g.130725787G>A								NR_036537.1						0	831	-									RNA	SNP	ENST00000412425.1	37																																																																																						0.428	AC079776.7-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331383.1			3	18	0	0	0	1	0	3	18				
CABIN1	23523	broad.mit.edu	37	22	24468356	24468356	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:24468356C>G	ENST00000398319.2	+	18	2913	c.2528C>G	c.(2527-2529)tCt>tGt	p.S843C	CABIN1_ENST00000405822.2_Missense_Mutation_p.S793C|CABIN1_ENST00000263119.5_Missense_Mutation_p.S843C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	843					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCCCACGTCTCTTCAGTGCTA	0.582																																						ENST00000398319.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(2527-2529)tCt>tGt		calcineurin binding protein 1							134.0	94.0	107.0					22																	24468356		2203	4300	6503	SO:0001583	missense	23523				cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	g.chr22:24468356C>G	AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2528C>G	22.37:g.24468356C>G	ENSP00000381364:p.Ser843Cys					CABIN1_ENST00000405822.2_Missense_Mutation_p.S793C|CABIN1_ENST00000263119.5_Missense_Mutation_p.S843C	p.S843C	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN			18	2913	+			843					G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	ENST00000398319.2	37	c.2528C>G	CCDS13823.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318912	0.60524	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.36157	1.27;1.27;1.27	4.57	4.57	0.56435	.	0.179897	0.50627	D	0.000113	T	0.46678	0.1405	L	0.47716	1.5	0.80722	D	1	D;D	0.64830	0.994;0.99	P;P	0.55161	0.77;0.594	T	0.40794	-0.9544	10	0.42905	T	0.14	.	16.8003	0.85612	0.0:1.0:0.0:0.0	.	793;843	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	C	843;793;843	ENSP00000263119:S843C;ENSP00000384694:S793C;ENSP00000381364:S843C	ENSP00000263119:S843C	S	+	2	0	CABIN1	22798356	0.999000	0.42202	0.988000	0.46212	0.937000	0.57800	4.407000	0.59754	2.300000	0.77407	0.650000	0.86243	TCT		0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320161.2	NM_012295		22	64	0	0	0	1	0	22	64				
ZBED9	114821	broad.mit.edu	37	6	28554443	28554443	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:28554443C>T	ENST00000452236.2	-	1	669	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	RP5-1186N24.3_ENST00000499525.1_RNA|SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCCCCTTGTTCTTCTGGAGCC	0.502																																						ENST00000452236.2																			0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(52-54)Gaa>Aaa		SCAN domain containing 3							90.0	83.0	85.0					6																	28554443		2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28554443C>T																												ENST00000452236.2:c.52G>A	6.37:g.28554443C>T	ENSP00000395259:p.Glu18Lys					SCAND3_ENST00000530247.1_Intron	p.E18K	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN			1	669	-			18						Missense_Mutation	SNP	ENST00000452236.2	37	c.52G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461729	0.43736	.	.	ENSG00000232040	ENST00000452236	T	0.01767	4.65	3.33	1.37	0.22104	.	.	.	.	.	T	0.03136	0.0092	M	0.87971	2.92	0.09310	N	1	D	0.54207	0.965	P	0.58172	0.834	T	0.26710	-1.0095	9	0.72032	D	0.01	.	6.3204	0.21215	0.0:0.6989:0.188:0.1131	.	18	Q6R2W3	SCND3_HUMAN	K	18	ENSP00000395259:E18K	ENSP00000395259:E18K	E	-	1	0	SCAND3	28662422	0.000000	0.05858	0.001000	0.08648	0.762000	0.43233	0.042000	0.13949	0.187000	0.20147	0.563000	0.77884	GAA		0.502	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3			10	56	0	0	0	1	0	10	56				
NOTCH3	4854	broad.mit.edu	37	19	15291056	15291056	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:15291056C>G	ENST00000263388.2	-	20	3229	c.3154G>C	c.(3154-3156)Gag>Cag	p.E1052Q		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1052	EGF-like 27. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CACAGCTGCTCCAGCCGCACC	0.587																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(3154-3156)Gag>Cag		notch 3							42.0	32.0	36.0					19																	15291056		2202	4298	6500	SO:0001583	missense	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15291056C>G	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.3154G>C	19.37:g.15291056C>G	ENSP00000263388:p.Glu1052Gln						p.E1052Q	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		20	3229	-			1052			EGF-like 27.		Q9UEB3|Q9UPL3|Q9Y6L8	Missense_Mutation	SNP	ENST00000263388.2	37	c.3154G>C	CCDS12326.1	.	.	.	.	.	.	.	.	.	.	C	11.38	1.621967	0.28889	.	.	ENSG00000074181	ENST00000263388;ENST00000539383	T	0.67171	-0.25	4.84	3.7	0.42460	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.32753	N	0.005692	T	0.43055	0.1230	N	0.02403	-0.565	0.28970	N	0.889275	B;B	0.25719	0.031;0.132	B;B	0.32393	0.028;0.145	T	0.32587	-0.9901	10	0.20046	T	0.44	.	15.6816	0.77373	0.0:0.8499:0.1501:0.0	.	1003;1052	Q59FL3;Q9UM47	.;NOTC3_HUMAN	Q	1052;1002	ENSP00000263388:E1052Q	ENSP00000263388:E1052Q	E	-	1	0	NOTCH3	15152056	0.943000	0.32029	0.848000	0.33437	0.584000	0.36387	5.513000	0.67037	2.245000	0.73994	0.655000	0.94253	GAG		0.587	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		10	41	0	0	0	1	0	10	41				
IL12RB2	3595	broad.mit.edu	37	1	67786090	67786090	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:67786090G>T	ENST00000262345.1	+	2	679	c.39G>T	c.(37-39)atG>atT	p.M13I	IL12RB2_ENST00000544434.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000541374.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000371000.1_Missense_Mutation_p.M13I	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	13			M -> V (in dbSNP:rs17129772). {ECO:0000269|Ref.3}.		cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGGCATTTATGTTTATAATCA	0.338																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(37-39)atG>atT		interleukin 12 receptor, beta 2							185.0	182.0	183.0					1																	67786090		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67786090G>T	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.39G>T	1.37:g.67786090G>T	ENSP00000262345:p.Met13Ile					IL12RB2_ENST00000544434.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000371000.1_Missense_Mutation_p.M13I|IL12RB2_ENST00000541374.1_Missense_Mutation_p.M13I	p.M13I	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			2	679	+			13		M -> V (in dbSNP:rs17129772).			B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.39G>T	CCDS638.1	.	.	.	.	.	.	.	.	.	.	g	0.012	-1.684444	0.00745	.	.	ENSG00000081985	ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	T;T;T;T	0.36699	1.24;1.24;1.24;2.15	5.13	1.19	0.21007	.	0.929254	0.09178	N	0.837880	T	0.03608	0.0103	N	0.01874	-0.695	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.44159	-0.9346	10	0.07030	T	0.85	-0.8071	10.2987	0.43639	0.0:0.0:0.516:0.484	.	13;13;13;13	B4DGA4;F5H7L6;Q99665-2;Q99665	.;.;.;I12R2_HUMAN	I	13	ENSP00000262345:M13I;ENSP00000360039:M13I;ENSP00000445276:M13I;ENSP00000442443:M13I	ENSP00000262345:M13I	M	+	3	0	IL12RB2	67558678	0.002000	0.14202	0.022000	0.16811	0.598000	0.36846	0.504000	0.22626	0.259000	0.21709	-0.386000	0.06593	ATG		0.338	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		10	60	1	0	0.000673444	1	0.000683648	10	60				
ELK1	2002	broad.mit.edu	37	X	47498684	47498684	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:47498684G>T	ENST00000247161.3	-	3	363	c.264C>A	c.(262-264)taC>taA	p.Y88*	ELK1_ENST00000592066.1_Nonsense_Mutation_p.Y34*|ELK1_ENST00000376983.3_Nonsense_Mutation_p.Y88*|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Y88*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	88					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CGACCTCAGGGTAGGACACAA	0.587																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(262-264)taC>taA		ELK1, member of ETS oncogene family							29.0	23.0	25.0					X																	47498684		2203	4300	6503	SO:0001587	stop_gained	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47498684G>T	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.264C>A	X.37:g.47498684G>T	ENSP00000247161:p.Tyr88*					ELK1_ENST00000376983.3_Nonsense_Mutation_p.Y88*|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Y88*|ELK1_ENST00000592066.1_Nonsense_Mutation_p.Y34*	p.Y88*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			3	363	-			88					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Nonsense_Mutation	SNP	ENST00000247161.3	37	c.264C>A	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634516	0.87660	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	.	.	.	5.52	1.5	0.22942	.	0.184649	0.49305	D	0.000154	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.9191	0.47154	0.2682:0.0:0.7318:0.0	.	.	.	.	X	88	.	ENSP00000247161:Y88X	Y	-	3	2	ELK1	47383628	0.998000	0.40836	0.962000	0.40283	0.858000	0.48976	0.375000	0.20518	-0.072000	0.12864	-1.016000	0.02456	TAC		0.587	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		8	27	1	0	0.00448238	1	0.00448238	8	27				
MAN1C1	57134	broad.mit.edu	37	1	26104778	26104778	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:26104778G>A	ENST00000374332.4	+	9	1770	c.1440G>A	c.(1438-1440)caG>caA	p.Q480Q	MAN1C1_ENST00000374329.1_Silent_p.Q251Q|MAN1C1_ENST00000263979.3_Silent_p.Q300Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	480					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TCGCAGCCCAGATCACCAAGA	0.607																																						ENST00000374332.4																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25						c.(1438-1440)caG>caA		mannosidase, alpha, class 1C, member 1							59.0	58.0	58.0					1																	26104778		2203	4300	6503	SO:0001819	synonymous_variant	57134				post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:26104778G>A	AF261655	CCDS265.1	1p35	2008-02-05			ENSG00000117643	ENSG00000117643			19080	protein-coding gene	gene with protein product						10915796	Standard	XM_005245945		Approved	HMIC	uc001bkm.2	Q9NR34	OTTHUMG00000004417	ENST00000374332.4:c.1440G>A	1.37:g.26104778G>A						MAN1C1_ENST00000263979.3_Silent_p.Q300Q|MAN1C1_ENST00000374329.1_Silent_p.Q251Q	p.Q480Q	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)	9	1770	+		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)	480					A6NNE2|B2RNP2|Q9Y545	Silent	SNP	ENST00000374332.4	37	c.1440G>A	CCDS265.1																																																																																				0.607	MAN1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012828.3	NM_020379		26	65	0	0	0	1	0	26	65				
AACS	65985	broad.mit.edu	37	12	125561121	125561121	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:125561121C>T	ENST00000316519.6	+	3	528	c.322C>T	c.(322-324)Cac>Tac	p.H108Y	AACS_ENST00000261686.6_Missense_Mutation_p.H108Y	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	108					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCTCCTGCGGCACAAAGAGAA	0.498																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(322-324)Cac>Tac		acetoacetyl-CoA synthetase							138.0	129.0	132.0					12																	125561121		2203	4300	6503	SO:0001583	missense	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125561121C>T	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.322C>T	12.37:g.125561121C>T	ENSP00000324842:p.His108Tyr					AACS_ENST00000261686.6_Missense_Mutation_p.H108Y	p.H108Y	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	3	528	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		108					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Missense_Mutation	SNP	ENST00000316519.6	37	c.322C>T	CCDS9263.1	.	.	.	.	.	.	.	.	.	.	C	8.640	0.895690	0.17686	.	.	ENSG00000081760	ENST00000316519;ENST00000536752;ENST00000261686	T;T;T	0.10668	2.85;2.85;2.85	5.28	5.28	0.74379	Acyl-CoA synthase, domain of unknown function DUF3448 (1);	0.000000	0.85682	D	0.000000	T	0.11110	0.0271	L	0.43152	1.355	0.80722	D	1	B;B	0.15930	0.015;0.002	B;B	0.15052	0.012;0.007	T	0.12167	-1.0558	10	0.08837	T	0.75	.	18.0318	0.89286	0.0:1.0:0.0:0.0	.	108;108	Q86V21-2;Q86V21	.;AACS_HUMAN	Y	108	ENSP00000324842:H108Y;ENSP00000442691:H108Y;ENSP00000261686:H108Y	ENSP00000261686:H108Y	H	+	1	0	AACS	124127074	1.000000	0.71417	0.362000	0.25862	0.077000	0.17291	6.407000	0.73280	2.632000	0.89209	0.591000	0.81541	CAC		0.498	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		29	60	0	0	0	1	0	29	60				
STK33	65975	broad.mit.edu	37	11	8494819	8494819	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:8494819G>C	ENST00000447869.1	-	2	1148	c.230C>G	c.(229-231)tCa>tGa	p.S77*	STK33_ENST00000315204.1_Nonsense_Mutation_p.S77*|STK33_ENST00000534493.1_Nonsense_Mutation_p.S36*|STK33_ENST00000396673.1_Nonsense_Mutation_p.S77*|STK33_ENST00000396672.1_Nonsense_Mutation_p.S77*|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	77					protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGAGGTTCTTGAGGGCTGGGA	0.338																																						ENST00000447869.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23						c.(229-231)tCa>tGa		serine/threonine kinase 33							90.0	90.0	90.0					11																	8494819		2201	4296	6497	SO:0001587	stop_gained	65975					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr11:8494819G>C	AJ303380	CCDS7789.1, CCDS73253.1, CCDS73254.1	11p15.3	2010-03-10			ENSG00000130413	ENSG00000130413			14568	protein-coding gene	gene with protein product		607670				11738831	Standard	NM_030906		Approved		uc001mgj.1	Q9BYT3	OTTHUMG00000140275	ENST00000447869.1:c.230C>G	11.37:g.8494819G>C	ENSP00000416750:p.Ser77*					STK33_ENST00000396673.1_Nonsense_Mutation_p.S77*|STK33_ENST00000315204.1_Nonsense_Mutation_p.S77*|STK33_ENST00000534493.1_Nonsense_Mutation_p.S36*|STK33_ENST00000358872.3_Intron|STK33_ENST00000396672.1_Nonsense_Mutation_p.S77*	p.S77*			Q9BYT3	STK33_HUMAN		Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)	2	1148	-			77					Q658S6|Q8NEF5	Nonsense_Mutation	SNP	ENST00000447869.1	37	c.230C>G	CCDS7789.1	.	.	.	.	.	.	.	.	.	.	G	34	5.402339	0.96030	.	.	ENSG00000130413	ENST00000447869;ENST00000315204;ENST00000396672;ENST00000396673;ENST00000534493;ENST00000524760;ENST00000418597;ENST00000422559;ENST00000457885	.	.	.	5.41	0.833	0.18875	.	0.944627	0.08771	N	0.896219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	8.2412	0.31660	0.3837:0.0:0.6163:0.0	.	.	.	.	X	77;77;77;77;36;27;36;36;77	.	ENSP00000320754:S77X	S	-	2	0	STK33	8451395	0.775000	0.28604	0.001000	0.08648	0.644000	0.38419	0.670000	0.25157	0.261000	0.21753	0.585000	0.79938	TCA		0.338	STK33-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276819.2	NM_030906		23	54	0	0	0	1	0	23	54				
SMC6	79677	broad.mit.edu	37	2	17912391	17912391	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:17912391G>A	ENST00000448223.2	-	7	766	c.497C>T	c.(496-498)aCg>aTg	p.T166M	SMC6_ENST00000402989.1_Missense_Mutation_p.T166M|SMC6_ENST00000351948.4_Missense_Mutation_p.T166M|SMC6_ENST00000381272.4_Missense_Mutation_p.T192M	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	166					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCTTTCCTCGTGGAAACCAC	0.313																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(496-498)aCg>aTg		structural maintenance of chromosomes 6							78.0	77.0	78.0					2																	17912391		2203	4300	6503	SO:0001583	missense	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17912391G>A	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.497C>T	2.37:g.17912391G>A	ENSP00000404092:p.Thr166Met					SMC6_ENST00000381272.4_Missense_Mutation_p.T192M|SMC6_ENST00000402989.1_Missense_Mutation_p.T166M|SMC6_ENST00000351948.4_Missense_Mutation_p.T166M	p.T166M	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			7	766	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		166					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	ENST00000448223.2	37	c.497C>T	CCDS1690.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.181279	0.38511	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.67171	-0.25;-0.25;1.96;-0.25;1.24	5.8	3.88	0.44766	RecF/RecN/SMC (1);	0.345316	0.34853	N	0.003637	T	0.69251	0.3090	L	0.43923	1.385	0.24712	N	0.993199	D;D;D	0.63046	0.992;0.989;0.984	P;P;P	0.58077	0.765;0.832;0.77	T	0.61569	-0.7036	10	0.59425	D	0.04	.	10.2778	0.43521	0.0:0.1308:0.5988:0.2704	.	192;192;166	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	M	166;166;192;166;192	ENSP00000404092:T166M;ENSP00000323439:T166M;ENSP00000370672:T192M;ENSP00000384539:T166M;ENSP00000408644:T192M	ENSP00000323439:T166M	T	-	2	0	SMC6	17775872	0.998000	0.40836	0.623000	0.29173	0.138000	0.21146	2.192000	0.42649	1.424000	0.47217	0.585000	0.79938	ACG		0.313	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		5	65	0	0	0	1	0	5	65				
WDR33	55339	broad.mit.edu	37	2	128482013	128482013	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:128482013C>G	ENST00000322313.4	-	11	1248	c.1090G>C	c.(1090-1092)Gag>Cag	p.E364Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	364					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ACTTCCTTCTCTACCCTGCAA	0.468																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(1090-1092)Gag>Cag		WD repeat domain 33							105.0	95.0	99.0					2																	128482013		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128482013C>G		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1090G>C	2.37:g.128482013C>G	ENSP00000325377:p.Glu364Gln						p.E364Q	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	11	1248	-	Colorectal(110;0.1)		364					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.1090G>C	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224755	0.79576	.	.	ENSG00000136709	ENST00000322313	T	0.01304	5.03	5.36	5.36	0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.108998	0.64402	D	0.000010	T	0.03695	0.0105	N	0.12471	0.22	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.68477	-0.5398	10	0.45353	T	0.12	-15.3037	19.4637	0.94929	0.0:1.0:0.0:0.0	.	364	Q9C0J8	WDR33_HUMAN	Q	364	ENSP00000325377:E364Q	ENSP00000325377:E364Q	E	-	1	0	WDR33	128198483	1.000000	0.71417	0.989000	0.46669	0.993000	0.82548	7.587000	0.82613	2.675000	0.91044	0.655000	0.94253	GAG		0.468	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		15	70	0	0	0	1	0	15	70				
UHRF1BP1L	23074	broad.mit.edu	37	12	100452246	100452246	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:100452246C>G	ENST00000279907.7	-	14	3021	c.2809G>C	c.(2809-2811)Gac>Cac	p.D937H	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D587H	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	937										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGGCTAAGGTCAACACTCATA	0.303																																						ENST00000279907.7																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						c.(2809-2811)Gac>Cac		UHRF1 binding protein 1-like							49.0	51.0	50.0					12																	100452246		2202	4299	6501	SO:0001583	missense	23074							g.chr12:100452246C>G		CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.2809G>C	12.37:g.100452246C>G	ENSP00000279907:p.Asp937His					UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.D587H	p.D937H	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN			14	3021	-			937					A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	ENST00000279907.7	37	c.2809G>C	CCDS31882.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.350728	0.41599	.	.	ENSG00000111647	ENST00000279907;ENST00000545232	T;T	0.14144	2.58;2.53	5.87	5.87	0.94306	.	0.160100	0.56097	D	0.000034	T	0.12646	0.0307	N	0.24115	0.695	0.80722	D	1	B	0.32203	0.36	B	0.28465	0.09	T	0.05733	-1.0867	10	0.72032	D	0.01	-13.9286	20.2245	0.98337	0.0:1.0:0.0:0.0	.	937	A0JNW5	UH1BL_HUMAN	H	937;587	ENSP00000279907:D937H;ENSP00000444824:D587H	ENSP00000279907:D937H	D	-	1	0	UHRF1BP1L	98976377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.359000	0.66074	2.770000	0.95276	0.650000	0.86243	GAC		0.303	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407875.1	NM_001006947		4	45	0	0	0	1	0	4	45				
PRDM8	56978	broad.mit.edu	37	4	81123447	81123447	+	Silent	SNP	C	C	T	rs368682315		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:81123447C>T	ENST00000504452.1	+	8	1670	c.831C>T	c.(829-831)tgC>tgT	p.C277C	PRDM8_ENST00000339711.4_Silent_p.C277C|PRDM8_ENST00000415738.2_Silent_p.C277C			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	277	Gly-rich.|Ser-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GCAGCAGCTGCTCCCCAGCCC	0.731											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(829-831)tgC>tgT		PR domain containing 8		C	,	1,3257		0,1,1628	11.0	15.0	14.0		831,831	3.7	1.0	4		14	0,7434		0,0,3717	no	coding-synonymous,coding-synonymous	PRDM8	NM_001099403.1,NM_020226.3	,	0,1,5345	TT,TC,CC		0.0,0.0307,0.0094	,	277/690,277/690	81123447	1,10691	1629	3717	5346	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123447C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.831C>T	4.37:g.81123447C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000415738.2_Silent_p.C277C|PRDM8_ENST00000504452.1_Silent_p.C277C	p.C277C	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	2062	+			277			Gly-rich.|Ser-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.831C>T	CCDS43243.1																																																																																				0.731	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			16	34	0	0	0	1	0	16	34				
AFF1	4299	broad.mit.edu	37	4	88016103	88016103	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:88016103C>G	ENST00000307808.6	+	7	1664	c.1244C>G	c.(1243-1245)tCt>tGt	p.S415C	AFF1_ENST00000395146.4_Missense_Mutation_p.S422C|AFF1_ENST00000544085.1_Missense_Mutation_p.S53C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	415					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CACTCAAATTCTCAGCAAGGA	0.338																																						ENST00000307808.6																			0				breast(1)|large_intestine(2)	3						c.(1243-1245)tCt>tGt		AF4/FMR2 family, member 1							156.0	140.0	145.0					4																	88016103		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88016103C>G	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1244C>G	4.37:g.88016103C>G	ENSP00000305689:p.Ser415Cys					AFF1_ENST00000544085.1_Missense_Mutation_p.S53C|AFF1_ENST00000395146.4_Missense_Mutation_p.S422C	p.S415C	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	7	1664	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	415					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1244C>G	CCDS3616.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.876434	0.33162	.	.	ENSG00000172493	ENST00000395146;ENST00000395142;ENST00000541943;ENST00000503477;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.28	5.28	0.74379	.	0.146547	0.48767	D	0.000170	T	0.79203	0.4406	L	0.58101	1.795	0.30199	N	0.798764	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.85130	0.997;0.934;0.994;0.991	T	0.77330	-0.2628	10	0.62326	D	0.03	-4.807	16.2	0.82063	0.0:1.0:0.0:0.0	.	422;393;415;415	E9PBM3;B4DXZ8;Q14C88;P51825	.;.;.;AFF1_HUMAN	C	422;393;76;393;415;53;53;106	ENSP00000378578:S422C;ENSP00000424483:S393C;ENSP00000305689:S415C;ENSP00000424766:S53C;ENSP00000440843:S53C;ENSP00000424881:S106C	ENSP00000305689:S415C	S	+	2	0	AFF1	88235127	0.998000	0.40836	0.844000	0.33320	0.041000	0.13682	4.487000	0.60293	2.624000	0.88883	0.655000	0.94253	TCT		0.338	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		14	29	0	0	0	1	0	14	29				
GAS8	2622	broad.mit.edu	37	16	90103716	90103716	+	Missense_Mutation	SNP	G	G	A	rs117053233	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:90103716G>A	ENST00000268699.4	+	7	955	c.833G>A	c.(832-834)cGc>cAc	p.R278H	GAS8_ENST00000540721.1_3'UTR|GAS8_ENST00000536122.1_Missense_Mutation_p.R253H	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN	growth arrest-specific 8	278					cellular protein localization (GO:0034613)|negative regulation of cell proliferation (GO:0008285)|sperm motility (GO:0030317)	Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile cilium (GO:0031514)		p.R278L(1)|p.R278H(1)		endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.029)		CAGAACAAGCGCCTGGCAGAC	0.592													G|||	16	0.00319489	0.0008	0.0014	5008	,	,		21604	0.0		0.0109	False		,,,				2504	0.0031					ENST00000268699.4																			2	Substitution - Missense(2)	p.R278L(1)|p.R278H(1)	ovary(1)|prostate(1)	endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(832-834)cGc>cAc		growth arrest-specific 8		G	HIS/ARG	6,4390	11.4+/-27.6	0,6,2192	64.0	63.0	63.0		833	4.5	1.0	16	dbSNP_132	63	102,8498	56.0+/-117.1	1,100,4199	yes	missense	GAS8	NM_001481.2	29	1,106,6391	AA,AG,GG		1.186,0.1365,0.831	probably-damaging	278/479	90103716	108,12888	2198	4300	6498	SO:0001583	missense	2622				negative regulation of cell proliferation|sperm motility	cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum	protein binding	g.chr16:90103716G>A	AF050079	CCDS10992.1, CCDS67101.1, CCDS73932.1	16q24.3	2014-07-18	2003-01-16	2003-01-17	ENSG00000141013	ENSG00000141013			4166	protein-coding gene	gene with protein product		605178	"""growth arrest-specific 11"""	GAS11		9790751	Standard	NM_001481		Approved		uc002fqi.1	O95995	OTTHUMG00000138988	ENST00000268699.4:c.833G>A	16.37:g.90103716G>A	ENSP00000268699:p.Arg278His					GAS8_ENST00000536122.1_Missense_Mutation_p.R253H|GAS8_ENST00000540721.1_3'UTR	p.R278H	NM_001481.2	NP_001472.1	O95995	GAS8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.029)	7	955	+		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)	278					B2RCT1|B7Z4U1|G3V1L5|Q2M234	Missense_Mutation	SNP	ENST00000268699.4	37	c.833G>A	CCDS10992.1	12	0.005494505494505495	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	10	0.013192612137203167	G	16.27	3.076893	0.55753	0.001365	0.01186	ENSG00000141013	ENST00000536122;ENST00000268699;ENST00000540721	T;T	0.49720	0.77;0.77	5.49	4.53	0.55603	.	0.361218	0.32548	N	0.005942	T	0.57110	0.2031	M	0.76433	2.335	0.34525	D	0.708548	D;D	0.89917	1.0;0.998	D;D	0.68192	0.956;0.94	T	0.73646	-0.3917	9	.	.	.	-6.8185	11.0258	0.47744	0.0688:0.0:0.8019:0.1293	.	249;278	B7Z1X3;O95995	.;GAS8_HUMAN	H	253;278;249	ENSP00000440977:R253H;ENSP00000268699:R278H	.	R	+	2	0	GAS8	88631217	0.991000	0.36638	0.997000	0.53966	0.469000	0.32828	2.568000	0.45965	1.307000	0.44944	0.563000	0.77884	CGC		0.592	GAS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272877.2			3	29	0	0	0	1	0	3	29				
BLM	641	broad.mit.edu	37	15	91306333	91306333	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:91306333G>C	ENST00000355112.3	+	8	2138	c.2020G>C	c.(2020-2022)Gag>Cag	p.E674Q	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.E674Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	674					alpha-beta T cell differentiation (GO:0046632)|ATP catabolic process (GO:0006200)|cellular response to camptothecin (GO:0072757)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydroxyurea (GO:0072711)|cellular response to ionizing radiation (GO:0071479)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell division (GO:0051782)|negative regulation of DNA recombination (GO:0045910)|negative regulation of mitotic recombination (GO:0045950)|negative regulation of thymocyte apoptotic process (GO:0070244)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of transcription, DNA-templated (GO:0045893)|protein oligomerization (GO:0051259)|regulation of binding (GO:0051098)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|replication fork processing (GO:0031297)|replication fork protection (GO:0048478)|response to X-ray (GO:0010165)|telomere maintenance (GO:0000723)	cytoplasm (GO:0005737)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|nuclear chromosome (GO:0000228)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|pronucleus (GO:0045120)|replication fork (GO:0005657)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent helicase activity (GO:0008026)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|p53 binding (GO:0002039)|single-stranded DNA binding (GO:0003697)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			TAATCAGCTAGAGGCGATCAA	0.378			"""Mis, N, F"""			"""leukemia, lymphoma, skin squamous cell , other cancers"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome																													ENST00000355112.3			yes	Rec		Bloom Syndrome	15	15q26.1	641	"""Mis, N, F"""	Bloom Syndrome			"""L, E"""		"""leukemia, lymphoma, skin squamous cell , other cancers"""			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2020-2022)Gag>Cag	Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome, RecQ helicase-like							111.0	116.0	114.0					15																	91306333		2198	4298	6496	SO:0001583	missense	641	Bloom syndrome	Familial Cancer Database		double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding	g.chr15:91306333G>C	U39817	CCDS10363.1, CCDS73782.1	15q26.1	2014-09-17	2009-03-19		ENSG00000197299	ENSG00000197299			1058	protein-coding gene	gene with protein product		604610	"""Bloom syndrome"""			9388193	Standard	NM_000057		Approved	BS, RECQL3, RECQ2	uc002bpr.3	P54132	OTTHUMG00000149834	ENST00000355112.3:c.2020G>C	15.37:g.91306333G>C	ENSP00000347232:p.Glu674Gln					BLM_ENST00000560509.1_Missense_Mutation_p.E674Q|BLM_ENST00000560136.1_3'UTR	p.E674Q	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Lung(145;0.189)		8	2138	+	Lung NSC(78;0.0875)|all_lung(78;0.109)		674					Q52M96	Missense_Mutation	SNP	ENST00000355112.3	37	c.2020G>C	CCDS10363.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.135711	0.77662	.	.	ENSG00000197299	ENST00000355112;ENST00000536925	T	0.16597	2.33	5.45	5.45	0.79879	DEAD-like helicase (1);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.101233	0.64402	D	0.000003	T	0.31979	0.0814	M	0.63428	1.95	0.80722	D	1	P;B;P	0.38565	0.637;0.41;0.637	P;B;P	0.49502	0.512;0.444;0.613	T	0.00912	-1.1517	10	0.35671	T	0.21	-4.4907	16.7809	0.85563	0.0:0.0:1.0:0.0	.	674;299;674	B2RAN0;B7ZKN7;P54132	.;.;BLM_HUMAN	Q	674;327	ENSP00000347232:E674Q	ENSP00000347232:E674Q	E	+	1	0	BLM	89107337	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.683000	0.98657	2.550000	0.86006	0.591000	0.81541	GAG		0.378	BLM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313495.1			31	94	0	0	0	1	0	31	94				
RPL10A	4736	broad.mit.edu	37	6	35438014	35438014	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:35438014C>G	ENST00000322203.6	+	5	396	c.369C>G	c.(367-369)atC>atG	p.I123M	RPL10A_ENST00000467020.1_3'UTR	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN	ribosomal protein L10a	123					anatomical structure morphogenesis (GO:0009653)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|large_intestine(2)|ovary(1)	4						TTCCACGAATCCTCGGCCCAG	0.478																																						ENST00000322203.6																			0				breast(1)|large_intestine(2)|ovary(1)	4						c.(367-369)atC>atG		ribosomal protein L10a							71.0	65.0	67.0					6																	35438014		2203	4300	6503	SO:0001583	missense	4736				anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	RNA binding|structural constituent of ribosome	g.chr6:35438014C>G	U12404	CCDS4806.1	6p21.31	2011-04-06			ENSG00000198755	ENSG00000198755		"""L ribosomal proteins"""	10299	protein-coding gene	gene with protein product		615660		NEDD6		7609734, 9647638	Standard	NM_007104		Approved	Csa-19, L10A	uc003okp.1	P62906	OTTHUMG00000014566	ENST00000322203.6:c.369C>G	6.37:g.35438014C>G	ENSP00000363018:p.Ile123Met					RPL10A_ENST00000467020.1_3'UTR	p.I123M	NM_007104.4	NP_009035.3	P62906	RL10A_HUMAN			5	396	+			123					B2R801|P52859|P53025|Q5TZT6|Q8J013	Missense_Mutation	SNP	ENST00000322203.6	37	c.369C>G	CCDS4806.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.591938	0.66219	.	.	ENSG00000198755	ENST00000322203	T	0.46063	0.88	4.73	0.933	0.19471	Ribosomal protein L1, 3-layer alpha/beta-sandwich (1);Ribosomal protein L1, conserved site (1);Ribosomal protein L1, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47581	0.1453	M	0.88570	2.965	0.58432	D	0.999995	P	0.41947	0.766	P	0.54401	0.751	T	0.52117	-0.8618	10	0.72032	D	0.01	.	7.5447	0.27759	0.0:0.5483:0.0:0.4517	.	123	P62906	RL10A_HUMAN	M	123	ENSP00000363018:I123M	ENSP00000363018:I123M	I	+	3	3	RPL10A	35545992	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	1.242000	0.32755	0.108000	0.17862	0.556000	0.70494	ATC		0.478	RPL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040283.1	NM_007104		7	54	0	0	0	1	0	7	54				
FBXL13	222235	broad.mit.edu	37	7	102572360	102572360	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr7:102572360C>G	ENST00000313221.4	-	9	1171	c.745G>C	c.(745-747)Gag>Cag	p.E249Q	FBXL13_ENST00000379305.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.E249Q|FBXL13_ENST00000393772.2_Missense_Mutation_p.E249Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E249Q|LRRC17_ENST00000249377.4_Intron|LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.E249Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E249Q	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	249										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						ACATTCAACTCTTGCAAGTTC	0.353																																						ENST00000393772.2																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						c.(745-747)Gag>Cag		F-box and leucine-rich repeat protein 13							134.0	115.0	122.0					7																	102572360		2203	4300	6503	SO:0001583	missense	222235							g.chr7:102572360C>G	BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.745G>C	7.37:g.102572360C>G	ENSP00000321927:p.Glu249Gln					LRRC17_ENST00000339431.4_Intron|FBXL13_ENST00000456695.1_Missense_Mutation_p.E249Q|LRRC17_ENST00000249377.4_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.E249Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E249Q|FBXL13_ENST00000379305.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E249Q|FBXL13_ENST00000313221.4_Missense_Mutation_p.E249Q	p.E249Q			Q8NEE6	FXL13_HUMAN			9	1171	-			249					C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	ENST00000313221.4	37	c.745G>C	CCDS5726.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.639759	0.87760	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379306;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000456695;ENST00000455112	T;T;T;T;T;T;T;T	0.03181	4.32;4.32;4.02;4.32;4.32;4.32;4.02;4.32	5.71	5.71	0.89125	.	0.301114	0.30036	N	0.010570	T	0.13628	0.0330	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.71674	0.977;0.998;0.987;0.981	P;D;P;D	0.67231	0.848;0.95;0.809;0.924	T	0.00178	-1.1951	10	0.56958	D	0.05	.	18.0288	0.89277	0.0:1.0:0.0:0.0	.	249;249;249;249	Q8NEE6-3;Q8NEE6-4;Q8NEE6-2;Q8NEE6	.;.;.;FXL13_HUMAN	Q	249	ENSP00000377367:E249Q;ENSP00000368610:E249Q;ENSP00000368608:E249Q;ENSP00000368607:E249Q;ENSP00000388608:E249Q;ENSP00000321927:E249Q;ENSP00000409716:E249Q;ENSP00000391550:E249Q	ENSP00000321927:E249Q	E	-	1	0	FBXL13	102359596	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	3.459000	0.53021	2.683000	0.91414	0.655000	0.94253	GAG		0.353	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348001.1	NM_145032		14	48	0	0	0	1	0	14	48				
ALG12	79087	broad.mit.edu	37	22	50301453	50301453	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:50301453G>A	ENST00000330817.6	-	7	1181	c.908C>T	c.(907-909)tCc>tTc	p.S303F		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase	303					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	alpha-1,6-mannosyltransferase activity (GO:0000009)|dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase activity (GO:0052917)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCAGGAGGGAGTAGAGTGC	0.607																																						ENST00000330817.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12						c.(907-909)tCc>tTc		ALG12, alpha-1,6-mannosyltransferase							137.0	121.0	127.0					22																	50301453		2203	4300	6503	SO:0001583	missense	79087				dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane		g.chr22:50301453G>A	AJ303120	CCDS14081.1	22q13.33	2013-02-26	2013-02-26		ENSG00000182858	ENSG00000182858	2.4.1.260	"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"""	19358	protein-coding gene	gene with protein product	"""dolichyl-P-Man:Man(7)GlcNAc(2)-PP-dolichol alpha-1,6-mannosyltransferase"", ""dol-P-Man dependent alpha-1,6-mannosyltransferase"""	607144	"""asparagine-linked glycosylation 12 homolog (yeast, alpha-1,6-mannosyltransferase)"", ""asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae)"""			11983712	Standard	NM_024105		Approved	ECM39	uc003biy.3	Q9BV10	OTTHUMG00000150289	ENST00000330817.6:c.908C>T	22.37:g.50301453G>A	ENSP00000333813:p.Ser303Phe						p.S303F	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)	7	1181	-		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)	303					A6PWM1|Q4KMH4|Q8NG10|Q96AA4	Missense_Mutation	SNP	ENST00000330817.6	37	c.908C>T	CCDS14081.1	.	.	.	.	.	.	.	.	.	.	G	16.33	3.092512	0.55968	.	.	ENSG00000182858	ENST00000330817	T	0.71934	-0.61	4.28	4.28	0.50868	.	0.135336	0.51477	D	0.000081	D	0.88691	0.6505	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91854	0.5494	10	0.56958	D	0.05	-13.0431	17.2733	0.87109	0.0:0.0:1.0:0.0	.	303	Q9BV10	ALG12_HUMAN	F	303	ENSP00000333813:S303F	ENSP00000333813:S303F	S	-	2	0	ALG12	48687457	1.000000	0.71417	0.931000	0.37212	0.023000	0.10783	9.348000	0.97062	2.378000	0.81104	0.655000	0.94253	TCC		0.607	ALG12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317405.2	NM_024105		23	85	0	0	0	1	0	23	85				
ADCK5	203054	broad.mit.edu	37	8	145617301	145617301	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:145617301G>A	ENST00000308860.6	+	11	1150	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q	CPSF1_ENST00000531727.1_5'Flank|MIR939_ENST00000401314.1_RNA	NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	369	Protein kinase.					integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTTCTGGTGCGGAAAGGCCCG	0.662																																						ENST00000308860.6																			0				endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8						c.(1105-1107)cGg>cAg		aarF domain containing kinase 5							30.0	33.0	32.0					8																	145617301		2196	4298	6494	SO:0001583	missense	203054					integral to membrane	protein serine/threonine kinase activity	g.chr8:145617301G>A	BC032402	CCDS34965.1, CCDS34965.2	8q24.3	2004-07-06			ENSG00000173137	ENSG00000173137			21738	protein-coding gene	gene with protein product							Standard	NM_174922		Approved	FLJ35454	uc003zch.3	Q3MIX3	OTTHUMG00000165190	ENST00000308860.6:c.1106G>A	8.37:g.145617301G>A	ENSP00000310547:p.Arg369Gln						p.R369Q	NM_174922.3	NP_777582.3	Q3MIX3	ADCK5_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)		11	1150	+	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		369			Protein kinase.		B3KS46|Q5U4P1|Q6P2S4|Q8N5V3	Missense_Mutation	SNP	ENST00000308860.6	37	c.1106G>A	CCDS34965.1	.	.	.	.	.	.	.	.	.	.	G	32	5.131861	0.94473	.	.	ENSG00000173137	ENST00000308860	T	0.37235	1.21	5.4	5.4	0.78164	Protein kinase-like domain (1);	0.149097	0.43260	D	0.000581	T	0.62417	0.2426	M	0.83223	2.63	0.80722	D	1	D	0.76494	0.999	D	0.69824	0.966	T	0.67409	-0.5678	10	0.72032	D	0.01	-45.9193	14.6522	0.68805	0.0:0.0:1.0:0.0	.	369	Q3MIX3	ADCK5_HUMAN	Q	369	ENSP00000310547:R369Q	ENSP00000310547:R369Q	R	+	2	0	ADCK5	145588109	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.248000	0.78268	2.536000	0.85505	0.555000	0.69702	CGG		0.662	ADCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382556.2	NM_174922		7	35	0	0	0	1	0	7	35				
ALDH5A1	7915	broad.mit.edu	37	6	24505178	24505178	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:24505178G>A	ENST00000357578.3	+	4	836	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	ALDH5A1_ENST00000491546.1_Missense_Mutation_p.E203K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.E143K|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.E231K	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	231					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	GAAGCCTGCCGAAGACACGCC	0.577																																						ENST00000357578.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20						c.(691-693)Gaa>Aaa		aldehyde dehydrogenase 5 family, member A1	Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)						75.0	78.0	77.0					6																	24505178		2203	4300	6503	SO:0001583	missense	7915				acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity	g.chr6:24505178G>A	L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.691G>A	6.37:g.24505178G>A	ENSP00000350191:p.Glu231Lys					ALDH5A1_ENST00000491546.1_Missense_Mutation_p.E203K|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.E143K|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.E231K	p.E231K	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN			4	836	+			231					B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	ENST00000357578.3	37	c.691G>A	CCDS4555.1	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594815	0.66219	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	4.84	4.84	0.62591	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.108147	0.64402	D	0.000009	D	0.90947	0.7154	M	0.92169	3.28	0.80722	D	1	P;P	0.40602	0.723;0.676	B;B	0.30572	0.117;0.117	D	0.91889	0.5522	10	0.37606	T	0.19	-3.0888	18.5192	0.90945	0.0:0.0:1.0:0.0	.	231;231	P51649;G5E949	SSDH_HUMAN;.	K	231;143;203;231	ENSP00000350191:E231K;ENSP00000438193:E143K;ENSP00000417687:E203K;ENSP00000314649:E231K	ENSP00000314649:E231K	E	+	1	0	ALDH5A1	24613157	1.000000	0.71417	0.932000	0.37286	0.305000	0.27757	9.183000	0.94887	2.677000	0.91161	0.655000	0.94253	GAA		0.577	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040007.2			38	109	0	0	0	1	0	38	109				
BCAP31	10134	broad.mit.edu	37	X	152988622	152988622	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:152988622G>A	ENST00000345046.6	-	2	485	c.78C>T	c.(76-78)ttC>ttT	p.F26F	BCAP31_ENST00000441714.1_Silent_p.F26F|ABCD1_ENST00000370129.4_5'Flank|BCAP31_ENST00000468947.1_5'Flank|BCAP31_ENST00000458587.2_Silent_p.F93F|ABCD1_ENST00000218104.3_5'Flank	NM_001256447.1	NP_001243376.1	P51572	BAP31_HUMAN	B-cell receptor-associated protein 31	26					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|protein localization to endoplasmic reticulum exit site (GO:0070973)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lipid particle (GO:0005811)|membrane (GO:0016020)				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TAGGAGAAATGAAGGGAATGC	0.552																																						ENST00000458587.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(1)	7						c.(277-279)ttC>ttT		B-cell receptor-associated protein 31							88.0	70.0	76.0					X																	152988622		2203	4300	6503	SO:0001819	synonymous_variant	10134				cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport	cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane	receptor binding	g.chrX:152988622G>A	X81109	CCDS14727.1, CCDS48191.1	Xq28	2005-10-11			ENSG00000185825	ENSG00000185825			16695	protein-coding gene	gene with protein product		300398					Standard	NM_001139441		Approved	DXS1357E, BAP31, 6C6-Ag, CDM	uc011mza.1	P51572	OTTHUMG00000024218	ENST00000345046.6:c.78C>T	X.37:g.152988622G>A						BCAP31_ENST00000441714.1_Silent_p.F26F|BCAP31_ENST00000345046.6_Silent_p.F26F	p.F93F	NM_001139441.1|NM_001139457.2	NP_001132913.1|NP_001132929.1	P51572	BAP31_HUMAN			2	708	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		26					B3KQ79|D3DWV5|Q13836|Q96CF0	Silent	SNP	ENST00000345046.6	37	c.279C>T	CCDS14727.1																																																																																				0.552	BCAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061071.1	NM_005745		11	37	0	0	0	1	0	11	37				
FLG	2312	broad.mit.edu	37	1	152277137	152277137	+	Nonsense_Mutation	SNP	G	G	A	rs201356558	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:152277137G>A	ENST00000368799.1	-	3	10260	c.10225C>T	c.(10225-10227)Cga>Tga	p.R3409*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3409	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCGTCCAGTGCTG	0.607									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(10225-10227)Cga>Tga		filaggrin							149.0	166.0	161.0					1																	152277137		2203	4295	6498	SO:0001587	stop_gained	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152277137G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.10225C>T	1.37:g.152277137G>A	ENSP00000357789:p.Arg3409*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R3409*	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	10260	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3409			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.10225C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	51	17.363839	0.99885	.	.	ENSG00000143631	ENST00000368799	.	.	.	4.22	-5.09	0.02920	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	6.6807	0.23119	0.0:0.16:0.368:0.472	.	.	.	.	X	3409	.	ENSP00000357789:R3409X	R	-	1	2	FLG	150543761	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.479000	0.00983	-1.348000	0.02205	-0.376000	0.06991	CGA		0.607	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		132	352	0	0	0	1	0	132	352				
COL12A1	1303	broad.mit.edu	37	6	75892796	75892796	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:75892796C>G	ENST00000322507.8	-	10	2170	c.1861G>C	c.(1861-1863)Gag>Cag	p.E621Q	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.E621Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	621					cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AATTCTTGCTCAATTCTAAGG	0.368																																						ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(1861-1863)Gag>Cag		collagen, type XII, alpha 1							69.0	64.0	66.0					6																	75892796		1833	4092	5925	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75892796C>G	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.1861G>C	6.37:g.75892796C>G	ENSP00000325146:p.Glu621Gln					COL12A1_ENST00000416123.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000483888.2_Missense_Mutation_p.E621Q|COL12A1_ENST00000345356.6_Intron	p.E621Q	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN			10	2170	-			621					O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.1861G>C	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367326	0.82463	.	.	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	D;D;D	0.86562	-2.14;-2.13;-2.11	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	D	0.90546	0.7037	L	0.52573	1.65	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	D	0.88498	0.3080	10	0.39692	T	0.17	.	19.8419	0.96692	0.0:1.0:0.0:0.0	.	621;621	D6RGG3;Q99715	.;COCA1_HUMAN	Q	621	ENSP00000325146:E621Q;ENSP00000412864:E621Q;ENSP00000421216:E621Q	ENSP00000325146:E621Q	E	-	1	0	COL12A1	75949516	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.767000	0.95098	0.561000	0.74099	GAG		0.368	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		18	50	0	0	0	1	0	18	50				
YIPF3	25844	broad.mit.edu	37	6	43481347	43481347	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:43481347G>C	ENST00000372422.2	-	4	602	c.420C>G	c.(418-420)atC>atG	p.I140M	YIPF3_ENST00000506469.1_Missense_Mutation_p.I146M|LRRC73_ENST00000372441.1_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	140					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TGACCATCTTGATAGGGATCA	0.562																																						ENST00000372422.2																			0				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9						c.(418-420)atC>atG		Yip1 domain family, member 3							51.0	53.0	52.0					6																	43481347		2203	4300	6503	SO:0001583	missense	25844				cell differentiation	integral to membrane|plasma membrane|transport vesicle		g.chr6:43481347G>C	AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.420C>G	6.37:g.43481347G>C	ENSP00000361499:p.Ile140Met					YIPF3_ENST00000506469.1_Missense_Mutation_p.I146M	p.I140M	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)		4	602	-	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		140					Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	ENST00000372422.2	37	c.420C>G	CCDS4899.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.94|12.94	2.089787|2.089787	0.36855|0.36855	.|.	.|.	ENSG00000137207|ENSG00000137207	ENST00000372422;ENST00000506469;ENST00000503972;ENST00000511831|ENST00000500090	T;T;T|.	0.45668|.	0.9;0.9;0.89|.	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	0.225144|.	0.45361|.	D|.	0.000365|.	T|.	0.45637|.	0.1352|.	L|L	0.34521|0.34521	1.04|1.04	0.40064|0.40064	D|D	0.975931|0.975931	B;P;B|.	0.36837|.	0.126;0.571;0.126|.	B;B;B|.	0.37989|.	0.262;0.221;0.262|.	T|.	0.34825|.	-0.9813|.	10|.	0.48119|.	T|.	0.1|.	-20.0719|-20.0719	14.5466|14.5466	0.68035|0.68035	0.0:0.2567:0.7433:0.0|0.0:0.2567:0.7433:0.0	.|.	146;105;140|.	E7EQR8;Q5JTD5;Q9GZM5|.	.;.;YIPF3_HUMAN|.	M|X	140;146;140;105|78	ENSP00000361499:I140M;ENSP00000425494:I146M;ENSP00000421461:I140M|.	ENSP00000361499:I140M|.	I|S	-|-	3|2	3|0	YIPF3|YIPF3	43589325|43589325	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.957000|2.957000	0.49137|0.49137	2.825000|2.825000	0.97269|0.97269	0.655000|0.655000	0.94253|0.94253	ATC|TCA		0.562	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040639.2	NM_015388		15	54	0	0	0	1	0	15	54				
C6orf118	168090	broad.mit.edu	37	6	165715172	165715172	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:165715172G>A	ENST00000230301.8	-	2	659	c.639C>T	c.(637-639)gaC>gaT	p.D213D	C6orf118_ENST00000543069.1_Silent_p.D109D	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	213										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		TCCTGTACCTGTCTGCGCTGG	0.617																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(325-327)gaC>gaT		chromosome 6 open reading frame 118							67.0	66.0	67.0					6																	165715172		2203	4300	6503	SO:0001819	synonymous_variant	168090							g.chr6:165715172G>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.639C>T	6.37:g.165715172G>A						C6orf118_ENST00000230301.8_Silent_p.D213D	p.D109D			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	908	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	213					Q8TC11	Silent	SNP	ENST00000230301.8	37	c.327C>T	CCDS5288.1																																																																																				0.617	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		25	95	0	0	0	1	0	25	95				
GPI	2821	broad.mit.edu	37	19	34856261	34856261	+	Silent	SNP	C	C	T	rs368450858		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:34856261C>T	ENST00000356487.5	+	1	331	c.90C>T	c.(88-90)ttC>ttT	p.F30F	GPI_ENST00000586425.1_Silent_p.F30F|GPI_ENST00000415930.3_Silent_p.F69F	NM_000175.3	NP_000166.2	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	30					aldehyde catabolic process (GO:0046185)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|hemostasis (GO:0007599)|humoral immune response (GO:0006959)|learning or memory (GO:0007611)|methylglyoxal biosynthetic process (GO:0019242)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glucose-6-phosphate isomerase activity (GO:0004347)|intramolecular transferase activity (GO:0016866)|monosaccharide binding (GO:0048029)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					GCCGCCTCTTCGATGCCAACA	0.716																																						ENST00000415930.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25						c.(205-207)ttC>ttT		glucose-6-phosphate isomerase							25.0	27.0	27.0					19																	34856261		2203	4295	6498	SO:0001819	synonymous_variant	2821				angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity	g.chr19:34856261C>T	M61214	CCDS12437.1, CCDS54246.1	19q13.1	2012-10-02	2010-05-11			ENSG00000105220	5.3.1.9		4458	protein-coding gene	gene with protein product		172400	"""glucose phosphate isomerase"""			2387591, 8575767	Standard	NM_001184722		Approved	AMF, NLK	uc002nvg.2	P06744		ENST00000356487.5:c.90C>T	19.37:g.34856261C>T						GPI_ENST00000356487.5_Silent_p.F30F|GPI_ENST00000586425.1_Silent_p.F30F	p.F69F	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN			2	377	+	Esophageal squamous(110;0.162)		30					B4DG39|Q9BRD3|Q9BSK5|Q9UHE6	Silent	SNP	ENST00000356487.5	37	c.207C>T	CCDS12437.1	.	.	.	.	.	.	.	.	.	.	C	3.388	-0.125020	0.06795	.	.	ENSG00000105220	ENST00000392234	.	.	.	4.85	1.56	0.23342	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.4605	7.9852	0.30207	0.0:0.5786:0.0:0.4214	.	.	.	.	X	33	.	ENSP00000376067:R33X	R	+	1	2	GPI	39548101	1.000000	0.71417	0.377000	0.26055	0.014000	0.08584	1.281000	0.33214	0.253000	0.21552	-0.379000	0.06801	CGA		0.716	GPI-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451693.3			3	28	0	0	0	1	0	3	28				
ZCCHC14	23174	broad.mit.edu	37	16	87445945	87445945	+	Silent	SNP	A	A	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:87445945A>G	ENST00000268616.4	-	12	2188	c.1971T>C	c.(1969-1971)tgT>tgC	p.C657C		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	657							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CATTATTAGGACAGGAAGTTT	0.527																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(1969-1971)tgT>tgC		zinc finger, CCHC domain containing 14							97.0	111.0	106.0					16																	87445945		2198	4300	6498	SO:0001819	synonymous_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87445945A>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.1971T>C	16.37:g.87445945A>G							p.C657C	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	12	2188	-			657					D3DUN1|O60324|Q3MJD8|Q9UFP0	Silent	SNP	ENST00000268616.4	37	c.1971T>C	CCDS10961.1																																																																																				0.527	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		33	153	0	0	0	1	0	33	153				
SH2D3C	10044	broad.mit.edu	37	9	130501101	130501101	+	Missense_Mutation	SNP	C	C	T	rs200069549		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr9:130501101C>T	ENST00000314830.8	-	12	2620	c.2507G>A	c.(2506-2508)cGc>cAc	p.R836H	SH2D3C_ENST00000429553.1_Missense_Mutation_p.R482H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R768H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R678H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R676H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R679H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	836	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTCTCATAGCGCCGGGCCTG	0.647																																						ENST00000314830.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(2506-2508)cGc>cAc		SH2 domain containing 3C							58.0	48.0	51.0					9																	130501101		2202	4300	6502	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130501101C>T	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2507G>A	9.37:g.130501101C>T	ENSP00000317817:p.Arg836His					SH2D3C_ENST00000429553.1_Missense_Mutation_p.R482H|SH2D3C_ENST00000373277.4_Missense_Mutation_p.R679H|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R678H|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R768H|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R676H	p.R836H	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN			12	2620	-			836			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.2507G>A	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	C	34	5.348224	0.95807	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.55588	1.34;1.34;1.0;1.38;0.51;1.15	5.76	5.76	0.90799	Guanine-nucleotide dissociation stimulator CDC25 (2);	0.000000	0.85682	D	0.000000	T	0.77143	0.4087	M	0.85777	2.775	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.998;0.999;0.999;1.0;0.999	T	0.80065	-0.1538	10	0.87932	D	0	-2.5647	18.9497	0.92637	0.0:1.0:0.0:0.0	.	676;836;768;679;678	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	H	679;678;768;676;482;836	ENSP00000362374:R679H;ENSP00000388536:R678H;ENSP00000362373:R768H;ENSP00000362371:R676H;ENSP00000394632:R482H;ENSP00000317817:R836H	ENSP00000317817:R836H	R	-	2	0	SH2D3C	129540922	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.773000	0.85462	2.713000	0.92767	0.655000	0.94253	CGC		0.647	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		4	9	0	0	0	1	0	4	9				
ATR	545	broad.mit.edu	37	3	142268991	142268991	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr3:142268991G>T	ENST00000350721.4	-	14	3080	c.2959C>A	c.(2959-2961)Ctt>Att	p.L987I	ATR_ENST00000383101.3_Missense_Mutation_p.L923I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	987					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACGATTAAGATCAGGAAAG	0.368								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(2959-2961)Ctt>Att	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							109.0	98.0	102.0					3																	142268991		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142268991G>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2959C>A	3.37:g.142268991G>T	ENSP00000343741:p.Leu987Ile					ATR_ENST00000383101.3_Missense_Mutation_p.L923I	p.L987I	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			14	3080	-			987					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.2959C>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	G	15.04	2.714357	0.48622	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.66099	-0.19;-0.19	5.56	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);	0.141423	0.47093	D	0.000256	T	0.45296	0.1335	L	0.27053	0.805	0.47862	D	0.999536	P	0.45348	0.856	B	0.38842	0.283	T	0.41556	-0.9502	10	0.35671	T	0.21	-10.9465	10.604	0.45384	0.0737:0.0:0.7835:0.1428	.	987	Q13535	ATR_HUMAN	I	987;923	ENSP00000343741:L987I;ENSP00000372581:L923I	ENSP00000343741:L987I	L	-	1	0	ATR	143751681	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.621000	0.67743	2.604000	0.88044	0.585000	0.79938	CTT		0.368	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		11	52	1	0	6.40141e-05	1	6.54801e-05	11	52				
FHL2	2274	broad.mit.edu	37	2	105979872	105979872	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:105979872G>A	ENST00000409807.1	-	5	892	c.558C>T	c.(556-558)ttC>ttT	p.F186F	FHL2_ENST00000344213.4_Silent_p.F296F|FHL2_ENST00000336660.5_Missense_Mutation_p.S128L|FHL2_ENST00000393352.3_Silent_p.F186F|FHL2_ENST00000408995.1_Silent_p.F186F|FHL2_ENST00000393353.3_Silent_p.F186F|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000409177.1_Silent_p.F302F|FHL2_ENST00000322142.8_Silent_p.F186F|FHL2_ENST00000358129.4_Silent_p.F186F			Q14192	FHL2_HUMAN	four and a half LIM domains 2	186	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|atrial cardiac muscle cell development (GO:0055014)|cellular lipid metabolic process (GO:0044255)|heart trabecula formation (GO:0060347)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast differentiation (GO:0001649)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle cell development (GO:0055015)	actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|M band (GO:0031430)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Z disc (GO:0030018)	androgen receptor binding (GO:0050681)|identical protein binding (GO:0042802)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						CGGTGCACACGAAGCACTCCT	0.607																																						ENST00000336660.5																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9						c.(382-384)tCg>tTg		four and a half LIM domains 2							47.0	38.0	41.0					2																	105979872		2203	4300	6503	SO:0001819	synonymous_variant	2274				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription, DNA-dependent|response to hormone stimulus|transcription, DNA-dependent	actin cytoskeleton|focal adhesion|nucleus	androgen receptor binding|identical protein binding|transcription coactivator activity|zinc ion binding	g.chr2:105979872G>A		CCDS2070.1	2q12.2	2014-09-17			ENSG00000115641	ENSG00000115641			3703	protein-coding gene	gene with protein product		602633				8753811	Standard	NM_201557		Approved	SLIM3, DRAL	uc002tcy.3	Q14192	OTTHUMG00000153120	ENST00000409807.1:c.558C>T	2.37:g.105979872G>A						FHL2_ENST00000393352.3_Silent_p.F186F|FHL2_ENST00000409177.1_Silent_p.F302F|FHL2_ENST00000409807.1_Silent_p.F186F|AC012360.6_ENST00000457290.2_RNA|FHL2_ENST00000408995.1_Silent_p.F186F|FHL2_ENST00000358129.4_Silent_p.F186F|FHL2_ENST00000322142.8_Silent_p.F186F|FHL2_ENST00000393353.3_Silent_p.F186F|FHL2_ENST00000344213.4_Silent_p.F296F	p.S128L			Q14192	FHL2_HUMAN			4	503	-			0			LIM zinc-binding 2.		Q13229|Q13644|Q2I5I4|Q5TM15|Q9P294	Missense_Mutation	SNP	ENST00000409807.1	37	c.383C>T	CCDS2070.1	.	.	.	.	.	.	.	.	.	.	g	17.32	3.359051	0.61403	.	.	ENSG00000115641	ENST00000336660	T	0.16897	2.31	5.41	-2.13	0.07144	.	.	.	.	.	T	0.19644	0.0472	.	.	.	0.23855	N	0.996657	.	.	.	.	.	.	T	0.26395	-1.0104	6	0.35671	T	0.21	.	13.7895	0.63131	0.6299:0.0:0.3701:0.0	.	.	.	.	L	128	ENSP00000338270:S128L	ENSP00000338270:S128L	S	-	2	0	FHL2	105346304	0.271000	0.24162	0.949000	0.38748	0.853000	0.48598	-0.277000	0.08502	-0.687000	0.05162	-2.016000	0.00434	TCG		0.607	FHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329654.1			4	31	0	0	0	1	0	4	31				
FSIP1	161835	broad.mit.edu	37	15	40005666	40005666	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:40005666C>T	ENST00000350221.3	-	10	1376	c.1167G>A	c.(1165-1167)ctG>ctA	p.L389L		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	389										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		TCATCATTTTCAGCTTTTCAT	0.368																																						ENST00000350221.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23						c.(1165-1167)ctG>ctA		fibrous sheath interacting protein 1							220.0	216.0	217.0					15																	40005666		2203	4300	6503	SO:0001819	synonymous_variant	161835							g.chr15:40005666C>T	BC045191	CCDS10050.1	15q14	2012-11-19			ENSG00000150667	ENSG00000150667			21674	protein-coding gene	gene with protein product		615795				14702039	Standard	NM_152597		Approved	FLJ35989	uc001zki.3	Q8NA03	OTTHUMG00000172456	ENST00000350221.3:c.1167G>A	15.37:g.40005666C>T							p.L389L	NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)	10	1376	-		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)	389					Q6X2C8|Q86Y89	Silent	SNP	ENST00000350221.3	37	c.1167G>A	CCDS10050.1																																																																																				0.368	FSIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252118.2	NM_152597		24	114	0	0	0	1	0	24	114				
RYR1	6261	broad.mit.edu	37	19	38943578	38943578	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:38943578C>G	ENST00000359596.3	+	13	1364	c.1364C>G	c.(1363-1365)tCc>tGc	p.S455C	RYR1_ENST00000355481.4_Missense_Mutation_p.S455C|RYR1_ENST00000360985.3_Missense_Mutation_p.S455C			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	455					calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GAGCCTCCCTCCGAGGACTTG	0.672																																						ENST00000355481.4																			0				NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285						c.(1363-1365)tCc>tGc		ryanodine receptor 1 (skeletal)	Dantrolene(DB01219)						44.0	34.0	37.0					19																	38943578		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38943578C>G	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.1364C>G	19.37:g.38943578C>G	ENSP00000352608:p.Ser455Cys					RYR1_ENST00000360985.3_Missense_Mutation_p.S455C|RYR1_ENST00000359596.3_Missense_Mutation_p.S455C	p.S455C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		13	1495	+	all_cancers(60;7.91e-06)		455					Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.1364C>G	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941099	0.34283	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.95756	-3.8;-3.8;-3.8	4.47	3.43	0.39272	Intracellular calcium-release channel (1);	0.300722	0.24566	U	0.037440	D	0.94046	0.8092	L	0.29908	0.895	0.26239	N	0.978891	D;D	0.62365	0.991;0.99	P;D	0.67231	0.793;0.95	D	0.86776	0.1976	10	0.72032	D	0.01	.	3.1701	0.06549	0.2761:0.4911:0.1436:0.0892	.	455;455	P21817-2;P21817	.;RYR1_HUMAN	C	455	ENSP00000352608:S455C;ENSP00000347667:S455C;ENSP00000354254:S455C	ENSP00000347667:S455C	S	+	2	0	RYR1	43635418	0.971000	0.33674	0.994000	0.49952	0.930000	0.56654	2.762000	0.47597	1.112000	0.41740	0.558000	0.71614	TCC		0.672	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1			9	27	0	0	0	1	0	9	27				
MAML1	9794	broad.mit.edu	37	5	179193111	179193111	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:179193111C>G	ENST00000292599.3	+	2	1363	c.1100C>G	c.(1099-1101)tCa>tGa	p.S367*	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGCCGGCATCAGCCCAGGCC	0.627																																						ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(1099-1101)tCa>tGa		mastermind-like 1 (Drosophila)							43.0	44.0	44.0					5																	179193111		2203	4300	6503	SO:0001587	stop_gained	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179193111C>G	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.1100C>G	5.37:g.179193111C>G	ENSP00000292599:p.Ser367*					MAML1_ENST00000503050.1_3'UTR	p.S367*	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1363	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	367						Nonsense_Mutation	SNP	ENST00000292599.3	37	c.1100C>G	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	C	39	7.412511	0.98269	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	.	.	.	5.01	5.01	0.66863	.	0.100001	0.44097	D	0.000492	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-12.2271	18.3019	0.90167	0.0:1.0:0.0:0.0	.	.	.	.	X	367;404	.	ENSP00000292599:S367X	S	+	2	0	MAML1	179125717	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.065000	0.49994	2.315000	0.78130	0.455000	0.32223	TCA		0.627	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		16	57	0	0	0	1	0	16	57				
NFAT5	10725	broad.mit.edu	37	16	69711219	69711219	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:69711219C>T	ENST00000354436.2	+	9	1935	c.1617C>T	c.(1615-1617)ttC>ttT	p.F539F	NFAT5_ENST00000349945.1_Silent_p.F463F|NFAT5_ENST00000432919.1_Silent_p.F557F|NFAT5_ENST00000393742.2_Silent_p.F463F|NFAT5_ENST00000567239.1_Silent_p.F557F|NFAT5_ENST00000566899.1_Silent_p.F463F	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	539					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TTCAACCATTCACTTACACTC	0.353																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1387-1389)ttC>ttT		nuclear factor of activated T-cells 5, tonicity-responsive							130.0	119.0	123.0					16																	69711219		2198	4300	6498	SO:0001819	synonymous_variant	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69711219C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1617C>T	16.37:g.69711219C>T						NFAT5_ENST00000567239.1_Silent_p.F557F|NFAT5_ENST00000566899.1_Silent_p.F463F|NFAT5_ENST00000393742.2_Silent_p.F463F|NFAT5_ENST00000354436.2_Silent_p.F539F|NFAT5_ENST00000432919.1_Silent_p.F557F	p.F463F	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			11	2941	+			539					A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Silent	SNP	ENST00000354436.2	37	c.1389C>T	CCDS10881.1																																																																																				0.353	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		8	67	0	0	0	1	0	8	67				
AP1G1	164	broad.mit.edu	37	16	71789968	71789968	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:71789968C>G	ENST00000299980.4	-	12	1624	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	AP1G1_ENST00000569748.1_Missense_Mutation_p.E395Q|AP1G1_ENST00000393512.3_Missense_Mutation_p.E398Q|SNORD71_ENST00000411292.1_RNA|AP1G1_ENST00000423132.2_Missense_Mutation_p.E398Q|AP1G1_ENST00000433195.2_Missense_Mutation_p.E418Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	395					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|Golgi to lysosome transport (GO:0090160)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|positive regulation of natural killer cell degranulation (GO:0043323)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network membrane (GO:0032588)	GTP-dependent protein binding (GO:0030742)|kinesin binding (GO:0019894)|protein transporter activity (GO:0008565)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				GCTTTAAATTCTGGCTCACAC	0.373																																						ENST00000299980.4																			0				breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28						c.(1183-1185)Gaa>Caa		adaptor-related protein complex 1, gamma 1 subunit							92.0	97.0	95.0					16																	71789968		2198	4300	6498	SO:0001583	missense	164				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity	g.chr16:71789968C>G	Y12226	CCDS32480.1, CCDS45522.1	16q23	2009-08-03				ENSG00000166747			555	protein-coding gene	gene with protein product	"""gamma1-adaptin"""	603533		CLAPG1, ADTG		9653655, 9733768	Standard	NM_001128		Approved		uc010cgg.3	O43747		ENST00000299980.4:c.1183G>C	16.37:g.71789968C>G	ENSP00000299980:p.Glu395Gln					AP1G1_ENST00000393512.3_Missense_Mutation_p.E398Q|AP1G1_ENST00000569748.1_Missense_Mutation_p.E395Q|AP1G1_ENST00000423132.2_Missense_Mutation_p.E398Q|AP1G1_ENST00000433195.2_Missense_Mutation_p.E418Q	p.E395Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN			12	1624	-		Ovarian(137;0.125)	395					O75709|O75842|Q9UG09|Q9Y3U4	Missense_Mutation	SNP	ENST00000299980.4	37	c.1183G>C	CCDS32480.1	.	.	.	.	.	.	.	.	.	.	C	19.90	3.912016	0.72983	.	.	ENSG00000166747	ENST00000299980;ENST00000393512;ENST00000423132;ENST00000433195;ENST00000538574;ENST00000425422	T;T;T;T	0.27720	1.65;1.65;1.65;1.65	5.22	5.22	0.72569	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.099229	0.64402	D	0.000002	T	0.57917	0.2086	M	0.87900	2.915	0.80722	D	1	B;B;D	0.59357	0.04;0.307;0.985	B;B;P	0.57776	0.096;0.147;0.827	T	0.63902	-0.6532	10	0.46703	T	0.11	-13.1368	18.7627	0.91858	0.0:1.0:0.0:0.0	.	395;418;398	O43747;B3KXW5;O43747-2	AP1G1_HUMAN;.;.	Q	395;398;398;418;266;480	ENSP00000299980:E395Q;ENSP00000377148:E398Q;ENSP00000409153:E398Q;ENSP00000403259:E418Q	ENSP00000299980:E395Q	E	-	1	0	AP1G1	70347469	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.459000	0.80802	2.420000	0.82092	0.530000	0.56133	GAA		0.373	AP1G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434147.1			15	115	0	0	0	1	0	15	115				
EPHA2	1969	broad.mit.edu	37	1	16475112	16475112	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:16475112C>T	ENST00000358432.5	-	3	738	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EPHA2_ENST00000461614.1_5'UTR	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	195	Cys-rich.|Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.|Mediates interaction with CLDN4.				activation of Rac GTPase activity (GO:0032863)|angiogenesis (GO:0001525)|axial mesoderm formation (GO:0048320)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|ephrin receptor signaling pathway (GO:0048013)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|keratinocyte differentiation (GO:0030216)|lens fiber cell morphogenesis (GO:0070309)|mammary gland epithelial cell proliferation (GO:0033598)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase B signaling (GO:0051898)|neural tube development (GO:0021915)|neuron differentiation (GO:0030182)|notochord cell development (GO:0060035)|notochord formation (GO:0014028)|osteoblast differentiation (GO:0001649)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|post-anal tail morphogenesis (GO:0036342)|protein kinase B signaling (GO:0043491)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of lamellipodium assembly (GO:0010591)|response to growth factor (GO:0070848)|skeletal system development (GO:0001501)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell projection (GO:0042995)|cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)|Regorafenib(DB08896)	GTAGTAGACACGGACGGAGAG	0.652																																						ENST00000358432.5																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(583-585)cGt>cAt		EPH receptor A2	Dasatinib(DB01254)						62.0	62.0	62.0					1																	16475112		2203	4300	6503	SO:0001583	missense	1969				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding	g.chr1:16475112C>T	BC037166	CCDS169.1	1p36	2013-02-11	2004-10-28		ENSG00000142627	ENSG00000142627	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3386	protein-coding gene	gene with protein product		176946	"""EphA2"""	ECK		9119409	Standard	NM_004431		Approved		uc001aya.2	P29317	OTTHUMG00000009527	ENST00000358432.5:c.584G>A	1.37:g.16475112C>T	ENSP00000351209:p.Arg195His					EPHA2_ENST00000461614.1_5'UTR	p.R195H	NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	3	738	-		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	195			Cys-rich.		B5A968|Q8N3Z2	Missense_Mutation	SNP	ENST00000358432.5	37	c.584G>A	CCDS169.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886314	0.91814	.	.	ENSG00000142627	ENST00000358432	T	0.05081	3.5	5.14	5.14	0.70334	Tyrosine-protein kinase, receptor class V, conserved site (1);Ephrin receptor, ligand binding (2);Galactose-binding domain-like (1);	0.000000	0.56097	D	0.000035	T	0.26810	0.0656	M	0.78801	2.425	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.01118	-1.1446	10	0.87932	D	0	.	16.0881	0.81073	0.0:1.0:0.0:0.0	.	195;195	B5A968;P29317	.;EPHA2_HUMAN	H	195	ENSP00000351209:R195H	ENSP00000351209:R195H	R	-	2	0	EPHA2	16347699	1.000000	0.71417	0.966000	0.40874	0.922000	0.55478	7.759000	0.85235	2.393000	0.81446	0.561000	0.74099	CGT		0.652	EPHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026322.1	NM_004431		11	135	0	0	0	1	0	11	135				
DUSP23	54935	broad.mit.edu	37	1	159752122	159752122	+	Silent	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:159752122G>A	ENST00000368107.1	+	2	545	c.447G>A	c.(445-447)acG>acA	p.T149T	DUSP23_ENST00000368108.3_Silent_p.T149T|DUSP23_ENST00000368109.1_Silent_p.T149T			Q9BVJ7	DUS23_HUMAN	dual specificity phosphatase 23	149						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			lung(1)	1	all_hematologic(112;0.0537)					ACCAGCGAACGAAATAAGGGG	0.532																																						ENST00000368107.1																			0				lung(1)	1						c.(445-447)acG>acA		dual specificity phosphatase 23							71.0	64.0	66.0					1																	159752122		2203	4300	6503	SO:0001819	synonymous_variant	54935					cytosol|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr1:159752122G>A		CCDS1187.1	1q23.1	2011-06-09			ENSG00000158716	ENSG00000158716		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	21480	protein-coding gene	gene with protein product						15147733	Standard	XM_005245289		Approved	FLJ20442, DUSP25	uc001ftz.1	Q9BVJ7	OTTHUMG00000022795	ENST00000368107.1:c.447G>A	1.37:g.159752122G>A						DUSP23_ENST00000368109.1_Silent_p.T149T|DUSP23_ENST00000368108.3_Silent_p.T149T	p.T149T			Q9BVJ7	DUS23_HUMAN			2	545	+	all_hematologic(112;0.0537)		149					Q9NX48	Silent	SNP	ENST00000368107.1	37	c.447G>A	CCDS1187.1																																																																																				0.532	DUSP23-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085552.1	NM_017823		17	46	0	0	0	1	0	17	46				
KIF14	9928	broad.mit.edu	37	1	200550364	200550364	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:200550364G>C	ENST00000367350.4	-	20	3738	c.3300C>G	c.(3298-3300)atC>atG	p.I1100M		NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN	kinesin family member 14	1100	Required for CIT-binding.				ATP catabolic process (GO:0006200)|cytoskeleton-dependent intracellular transport (GO:0030705)|establishment of protein localization (GO:0045184)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of integrin activation (GO:0033624)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of Rap protein signal transduction (GO:0032487)|substrate adhesion-dependent cell spreading (GO:0034446)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|PDZ domain binding (GO:0030165)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATTTGCTGCTGATAGCATTGG	0.328																																						ENST00000367350.4																			0				NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						c.(3298-3300)atC>atG		kinesin family member 14							102.0	104.0	104.0					1																	200550364		2203	4300	6503	SO:0001583	missense	9928				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding	g.chr1:200550364G>C	D26361	CCDS30963.1	1q32.1	2008-03-03			ENSG00000118193	ENSG00000118193		"""Kinesins"""	19181	protein-coding gene	gene with protein product		611279				7584044	Standard	NM_014875		Approved	KIAA0042	uc010ppk.1	Q15058	OTTHUMG00000035723	ENST00000367350.4:c.3300C>G	1.37:g.200550364G>C	ENSP00000356319:p.Ile1100Met						p.I1100M	NM_014875.2	NP_055690.1	Q15058	KIF14_HUMAN			20	3738	-			1100			Required for CIT-binding.		Q14CI8|Q4G0A5|Q5T1W3	Missense_Mutation	SNP	ENST00000367350.4	37	c.3300C>G	CCDS30963.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.115475	0.56505	.	.	ENSG00000118193	ENST00000367350	T	0.16897	2.31	5.6	2.35	0.29111	.	0.000000	0.85682	D	0.000000	T	0.34687	0.0906	M	0.79926	2.475	0.41198	D	0.986352	D	0.69078	0.997	P	0.61397	0.888	T	0.11397	-1.0589	10	0.72032	D	0.01	.	7.0271	0.24946	0.3908:0.0:0.6092:0.0	.	1100	Q15058	KIF14_HUMAN	M	1100	ENSP00000356319:I1100M	ENSP00000356319:I1100M	I	-	3	3	KIF14	198816987	1.000000	0.71417	0.999000	0.59377	0.782000	0.44232	1.047000	0.30367	0.723000	0.32274	-0.216000	0.12614	ATC		0.328	KIF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086878.1	NM_014875		17	56	0	0	0	1	0	17	56				
VWA7	80737	broad.mit.edu	37	6	31734437	31734437	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:31734437C>G	ENST00000375688.4	-	14	2187	c.1987G>C	c.(1987-1989)Gag>Cag	p.E663Q	VWA7_ENST00000375686.3_Missense_Mutation_p.E663Q|VWA7_ENST00000447450.1_Missense_Mutation_p.R656T|VWA7_ENST00000467576.1_5'UTR|SAPCD1-AS1_ENST00000419679.1_RNA			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	663						extracellular region (GO:0005576)											TCGGCACCCTCTGGGACCCCT	0.647																																						ENST00000375686.3																			0											c.(1987-1989)Gag>Cag		von Willebrand factor A domain containing 7							60.0	67.0	65.0					6																	31734437		1508	2708	4216	SO:0001583	missense	80737					extracellular region		g.chr6:31734437C>G		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1987G>C	6.37:g.31734437C>G	ENSP00000364840:p.Glu663Gln					VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000447450.1_Missense_Mutation_p.R656T|VWA7_ENST00000375688.4_Missense_Mutation_p.E663Q	p.E663Q	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			14	2224	-			663					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Missense_Mutation	SNP	ENST00000375688.4	37	c.1987G>C	CCDS4721.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.607|6.607	0.480439|0.480439	0.12581|0.12581	.|.	.|.	ENSG00000204396|ENSG00000204396	ENST00000375688;ENST00000375686|ENST00000447450	T;T|T	0.15017|0.31247	2.67;2.46|1.5	5.74|5.74	3.98|3.98	0.46160|0.46160	.|.	0.684198|.	0.14519|.	N|.	0.314561|.	T|T	0.06690|0.06690	0.0171|0.0171	N|N	0.11560|0.11560	0.145|0.145	0.09310|0.09310	N|N	1|1	B|.	0.09022|.	0.002|.	B|.	0.10450|.	0.005|.	T|T	0.30504|0.30504	-0.9976|-0.9976	10|7	0.30854|0.33940	T|T	0.27|0.23	-2.8219|-2.8219	7.9315|7.9315	0.29905|0.29905	0.0:0.7388:0.1738:0.0874|0.0:0.7388:0.1738:0.0874	.|.	663|.	Q9Y334|.	G7C_HUMAN|.	Q|T	663|656	ENSP00000364840:E663Q;ENSP00000364838:E663Q|ENSP00000390554:R656T	ENSP00000364838:E663Q|ENSP00000390554:R656T	E|R	-|-	1|2	0|0	C6orf27|C6orf27	31842416|31842416	0.001000|0.001000	0.12720|0.12720	0.033000|0.033000	0.17914|0.17914	0.055000|0.055000	0.15305|0.15305	0.618000|0.618000	0.24373|0.24373	0.791000|0.791000	0.33826|0.33826	0.563000|0.563000	0.77884|0.77884	GAG|AGA		0.647	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		15	83	0	0	0	1	0	15	83				
ROS1	6098	broad.mit.edu	37	6	117678014	117678014	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:117678014G>C	ENST00000368508.3	-	25	4117	c.3919C>G	c.(3919-3921)Cac>Gac	p.H1307D	ROS1_ENST00000368507.3_Missense_Mutation_p.H1302D|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1307					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGCAAGGTGTGACTGATAATA	0.388			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3919-3921)Cac>Gac		c-ros oncogene 1 , receptor tyrosine kinase							179.0	156.0	164.0					6																	117678014		2203	4300	6503	SO:0001583	missense	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117678014G>C	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3919C>G	6.37:g.117678014G>C	ENSP00000357494:p.His1307Asp					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.H1302D	p.H1307D	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	25	4117	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1307					Q15368|Q5TDB5	Missense_Mutation	SNP	ENST00000368508.3	37	c.3919C>G	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.123742	0.00346	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;D	0.90788	-2.73;-2.73	5.08	2.04	0.26737	.	0.821374	0.11150	N	0.594269	T	0.60327	0.2260	N	0.14661	0.345	0.09310	N	1	B	0.19817	0.039	B	0.14578	0.011	T	0.52223	-0.8604	10	0.11485	T	0.65	.	5.2593	0.15563	0.0796:0.2383:0.5463:0.1358	.	1307	P08922	ROS1_HUMAN	D	1307;1302	ENSP00000357494:H1307D;ENSP00000357493:H1302D	ENSP00000357493:H1302D	H	-	1	0	ROS1	117784707	0.191000	0.23288	0.560000	0.28344	0.000000	0.00434	0.451000	0.21779	0.380000	0.24823	-2.053000	0.00404	CAC		0.388	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			13	61	0	0	0	1	0	13	61				
KLHL2	11275	broad.mit.edu	37	4	166159977	166159977	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr4:166159977G>A	ENST00000226725.6	+	4	566	c.307G>A	c.(307-309)Gat>Aat	p.D103N	KLHL2_ENST00000421009.2_Intron|KLHL2_ENST00000506761.1_5'Flank|KLHL2_ENST00000538127.1_Missense_Mutation_p.D15N|KLHL2_ENST00000514860.1_Missense_Mutation_p.D107N	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	103	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AAAAGAGGTAGATGGCTGGAC	0.403																																						ENST00000226725.6																			0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(307-309)Gat>Aat		kelch-like family member 2							93.0	90.0	91.0					4																	166159977		2203	4300	6503	SO:0001583	missense	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166159977G>A	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.307G>A	4.37:g.166159977G>A	ENSP00000226725:p.Asp103Asn					KLHL2_ENST00000514860.1_Missense_Mutation_p.D107N|KLHL2_ENST00000538127.1_Missense_Mutation_p.D15N|KLHL2_ENST00000421009.2_Intron	p.D103N	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	4	566	+	all_hematologic(180;0.221)		103			BTB.		A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	c.307G>A	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	G	35	5.443514	0.96187	.	.	ENSG00000109466	ENST00000226725;ENST00000511305;ENST00000509704;ENST00000514860;ENST00000538127	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.42	5.42	0.78866	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.83949	0.5365	M	0.71206	2.165	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.84621	0.0684	10	0.56958	D	0.05	.	19.2261	0.93819	0.0:0.0:1.0:0.0	.	107;103	B4DFH7;O95198	.;KLHL2_HUMAN	N	103;143;65;107;15	ENSP00000226725:D103N;ENSP00000422113:D143N;ENSP00000421324:D65N;ENSP00000424198:D107N;ENSP00000437526:D15N	ENSP00000226725:D103N	D	+	1	0	KLHL2	166379427	1.000000	0.71417	0.380000	0.26093	0.990000	0.78478	9.828000	0.99408	2.543000	0.85770	0.585000	0.79938	GAT		0.403	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1			13	75	0	0	0	1	0	13	75				
AQR	9716	broad.mit.edu	37	15	35192847	35192847	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:35192847G>C	ENST00000156471.5	-	20	2444	c.2219C>G	c.(2218-2220)cCt>cGt	p.P740R		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	740					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGTAGAGCAGGGTCTTCTAC	0.418																																						ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(2218-2220)cCt>cGt		aquarius intron-binding spliceosomal factor							97.0	94.0	95.0					15																	35192847		1874	4124	5998	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35192847G>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.2219C>G	15.37:g.35192847G>C	ENSP00000156471:p.Pro740Arg						p.P740R	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	20	2444	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	740					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.2219C>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763053	0.49574	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93307	-3.2	6.17	6.17	0.99709	.	0.046434	0.85682	D	0.000000	D	0.92244	0.7540	M	0.61703	1.905	0.58432	D	0.999999	P	0.38863	0.65	B	0.37144	0.242	D	0.89672	0.3884	10	0.20519	T	0.43	-13.966	20.8794	0.99867	0.0:0.0:1.0:0.0	.	740	O60306	AQR_HUMAN	R	740	ENSP00000156471:P740R	ENSP00000156471:P740R	P	-	2	0	AQR	32980139	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.433000	0.97501	2.941000	0.99782	0.655000	0.94253	CCT		0.418	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		11	52	0	0	0	1	0	11	52				
PCDHA13	56136	broad.mit.edu	37	5	140263296	140263296	+	Silent	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:140263296C>T	ENST00000289272.2	+	1	1443	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA11_ENST00000398640.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	481	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAGGACGCGGACGCAC	0.662																																					Melanoma(147;1739 1852 5500 27947 37288)	ENST00000289272.2																			0				NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95						c.(1441-1443)gaC>gaT									72.0	73.0	72.0					5																	140263296		2203	4300	6503	SO:0001819	synonymous_variant	56136							g.chr5:140263296C>T	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1443C>T	5.37:g.140263296C>T						PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D481D|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron	p.D481D	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1443	+								O75277	Silent	SNP	ENST00000289272.2	37	c.1443C>T	CCDS4240.1																																																																																				0.662	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904		25	130	0	0	0	1	0	25	130				
C14orf39	317761	broad.mit.edu	37	14	60923726	60923726	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr14:60923726C>T	ENST00000321731.3	-	15	1426	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	423					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATAGGAATTTCAGACGTTCGT	0.373																																						ENST00000321731.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1267-1269)Gaa>Aaa		chromosome 14 open reading frame 39							98.0	113.0	108.0					14																	60923726		2203	4297	6500	SO:0001583	missense	317761							g.chr14:60923726C>T	AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1267G>A	14.37:g.60923726C>T	ENSP00000324920:p.Glu423Lys						p.E423K	NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0448)	15	1426	-			423					Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	c.1267G>A	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	C	14.16	2.453343	0.43531	.	.	ENSG00000179008	ENST00000321731	T	0.29397	1.57	5.32	5.32	0.75619	.	0.083171	0.51477	D	0.000086	T	0.50667	0.1629	L	0.55103	1.725	0.40794	D	0.983286	D	0.76494	0.999	D	0.83275	0.996	T	0.50988	-0.8762	10	0.87932	D	0	-19.5746	14.3724	0.66849	0.0:1.0:0.0:0.0	.	423	Q8N1H7	S6OS1_HUMAN	K	423	ENSP00000324920:E423K	ENSP00000324920:E423K	E	-	1	0	C14orf39	59993479	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	3.775000	0.55349	2.770000	0.95276	0.563000	0.77884	GAA		0.373	C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978		33	115	0	0	0	1	0	33	115				
NFAT5	10725	broad.mit.edu	37	16	69711109	69711109	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:69711109C>T	ENST00000354436.2	+	9	1825	c.1507C>T	c.(1507-1509)Cat>Tat	p.H503Y	NFAT5_ENST00000349945.1_Missense_Mutation_p.H427Y|NFAT5_ENST00000432919.1_Missense_Mutation_p.H521Y|NFAT5_ENST00000393742.2_Missense_Mutation_p.H427Y|NFAT5_ENST00000567239.1_Missense_Mutation_p.H521Y|NFAT5_ENST00000566899.1_Missense_Mutation_p.H427Y	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	503					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ACATTAGAATCATCTTATTGT	0.313																																						ENST00000349945.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						c.(1279-1281)Cat>Tat		nuclear factor of activated T-cells 5, tonicity-responsive							150.0	140.0	143.0					16																	69711109		2198	4300	6498	SO:0001583	missense	10725				excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:69711109C>T	AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1507C>T	16.37:g.69711109C>T	ENSP00000346420:p.His503Tyr					NFAT5_ENST00000567239.1_Missense_Mutation_p.H521Y|NFAT5_ENST00000566899.1_Missense_Mutation_p.H427Y|NFAT5_ENST00000393742.2_Missense_Mutation_p.H427Y|NFAT5_ENST00000354436.2_Missense_Mutation_p.H503Y|NFAT5_ENST00000432919.1_Missense_Mutation_p.H521Y	p.H427Y	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN			11	2831	+			503			RHD.		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	ENST00000354436.2	37	c.1279C>T	CCDS10881.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.641320	0.87859	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.9	4.9	0.64082	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.57873	0.2083	M	0.74647	2.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.995;0.995;0.999	T	0.62072	-0.6931	10	0.62326	D	0.03	.	18.4519	0.90707	0.0:1.0:0.0:0.0	.	521;503;521;427	A2RRB4;O94916;E9PHR7;O94916-2	.;NFAT5_HUMAN;.;.	Y	521;521;427;503;427	ENSP00000396538:H521Y;ENSP00000338806:H427Y;ENSP00000346420:H503Y;ENSP00000377343:H427Y	ENSP00000338806:H427Y	H	+	1	0	NFAT5	68268610	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.776000	0.85560	2.439000	0.82584	0.591000	0.81541	CAT		0.313	NFAT5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268952.2	NM_138714		6	65	0	0	0	1	0	6	65				
MRPS18A	55168	broad.mit.edu	37	6	43639527	43639527	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:43639527G>C	ENST00000372133.3	-	6	574	c.563C>G	c.(562-564)tCa>tGa	p.S188*	MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372165.4_3'UTR|RSPH9_ENST00000372163.4_3'UTR	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	mitochondrial ribosomal protein S18A	188					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			kidney(3)|large_intestine(1)	4	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)			AGGTGTTCTTGAGTAGCAGAC	0.587																																						ENST00000372133.3																			0				kidney(3)|large_intestine(1)	4						c.(562-564)tCa>tGa		mitochondrial ribosomal protein S18A							85.0	74.0	78.0					6																	43639527		2203	4300	6503	SO:0001587	stop_gained	55168				translation	mitochondrial small ribosomal subunit	structural constituent of ribosome	g.chr6:43639527G>C	AB049952	CCDS4906.1, CCDS55006.1	6p21.3	2012-09-13			ENSG00000096080	ENSG00000096080		"""Mitochondrial ribosomal proteins / small subunits"""	14515	protein-coding gene	gene with protein product		611981				11279123, 11543634	Standard	NM_018135		Approved	FLJ10548, MRPS18-3	uc003ovy.2	Q9NVS2	OTTHUMG00000014750	ENST00000372133.3:c.563C>G	6.37:g.43639527G>C	ENSP00000361206:p.Ser188*					RSPH9_ENST00000372165.4_3'UTR|MRPS18A_ENST00000372116.1_3'UTR|RSPH9_ENST00000372163.4_3'UTR	p.S188*	NM_018135.3	NP_060605.1	Q9NVS2	RT18A_HUMAN	all cancers(41;0.000479)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0102)|OV - Ovarian serous cystadenocarcinoma(102;0.137)		6	574	-	all_cancers(18;6.56e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		188					A6XND3|Q5QPA4	Nonsense_Mutation	SNP	ENST00000372133.3	37	c.563C>G	CCDS4906.1	.	.	.	.	.	.	.	.	.	.	G	7.318	0.616294	0.14129	.	.	ENSG00000096080	ENST00000372133;ENST00000372118;ENST00000427312	.	.	.	5.75	5.75	0.90469	.	0.631937	0.16907	N	0.194664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.7827	15.4418	0.75190	0.0:0.0:1.0:0.0	.	.	.	.	X	188;262;262	.	ENSP00000361190:S262X	S	-	2	0	MRPS18A	43747505	0.514000	0.26202	0.864000	0.33941	0.041000	0.13682	1.909000	0.39917	2.720000	0.93068	0.655000	0.94253	TCA		0.587	MRPS18A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040697.1	NM_018135		12	68	0	0	0	1	0	12	68				
OR1F2P	26184	broad.mit.edu	37	16	3266257	3266257	+	RNA	SNP	C	C	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr16:3266257C>G	ENST00000576468.1	+	0	418																											CTCCTGGCTTCCTATATGCAC	0.532																																						ENST00000576468.1																			0																																																			26184							g.chr16:3266257C>G																													16.37:g.3266257C>G														0	418	+									RNA	SNP	ENST00000576468.1	37																																																																																						0.532	AJ003147.9-001	KNOWN	basic	antisense	antisense	OTTHUMT00000437543.1			15	32	0	0	0	1	0	15	32				
ACBD3	64746	broad.mit.edu	37	1	226349308	226349308	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr1:226349308C>T	ENST00000366812.5	-	4	706	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ACBD3_ENST00000464927.1_5'UTR	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	218	Arg-rich.|Glu-rich.				steroid biosynthetic process (GO:0006694)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		ctttcctcttcttctctccta	0.473																																						ENST00000366812.5																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20						c.(652-654)Gaa>Aaa		acyl-CoA binding domain containing 3							129.0	103.0	112.0					1																	226349308		2203	4300	6503	SO:0001583	missense	64746				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding	g.chr1:226349308C>T	AB043587	CCDS1551.1	1q41	2013-10-16	2010-04-30	2003-11-12	ENSG00000182827	ENSG00000182827		"""A-kinase anchor proteins"""	15453	protein-coding gene	gene with protein product	"""PBR- and PKA-associated protein 7"""	606809	"""golgi complex associated protein 1, 60kDa"", ""acyl-Coenzyme A binding domain containing 3"""	GOLPH1, GOCAP1		12692076, 20150326	Standard	NM_022735		Approved	GCP60, PAP7	uc001hpy.3	Q9H3P7	OTTHUMG00000037560	ENST00000366812.5:c.652G>A	1.37:g.226349308C>T	ENSP00000355777:p.Glu218Lys					ACBD3_ENST00000464927.1_5'UTR	p.E218K	NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN		GBM - Glioblastoma multiforme(131;0.121)	4	706	-	Breast(184;0.158)		218			Arg-rich.|Glu-rich.		B2RB29|Q5VTJ0|Q6P9F1|Q8IZC5|Q8N4D6|Q9H6U3	Missense_Mutation	SNP	ENST00000366812.5	37	c.652G>A	CCDS1551.1	.	.	.	.	.	.	.	.	.	.	C	16.27	3.074800	0.55646	.	.	ENSG00000182827	ENST00000366812	T	0.58210	0.35	4.84	4.84	0.62591	.	0.264036	0.41712	D	0.000828	T	0.62036	0.2395	L	0.43923	1.385	0.51767	D	0.999937	P	0.52842	0.956	P	0.62184	0.899	T	0.62129	-0.6919	10	0.52906	T	0.07	-12.4954	14.1547	0.65410	0.0:1.0:0.0:0.0	.	218	Q9H3P7	GCP60_HUMAN	K	218	ENSP00000355777:E218K	ENSP00000355777:E218K	E	-	1	0	ACBD3	224415931	0.994000	0.37717	0.455000	0.27031	0.979000	0.70002	3.815000	0.55651	2.602000	0.87976	0.563000	0.77884	GAA		0.473	ACBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091528.1	NM_022735		8	42	0	0	0	1	0	8	42				
AQR	9716	broad.mit.edu	37	15	35261749	35261749	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr15:35261749G>C	ENST00000156471.5	-	1	291	c.66C>G	c.(64-66)ttC>ttG	p.F22L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	22					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CCTGGGTCACGAACTCCGCAT	0.587											OREG0023038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000156471.5																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(64-66)ttC>ttG		aquarius intron-binding spliceosomal factor							39.0	45.0	43.0					15																	35261749		2074	4203	6277	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35261749G>C	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.66C>G	15.37:g.35261749G>C	ENSP00000156471:p.Phe22Leu		OREG0023038	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	854		p.F22L	NM_014691.2	NP_055506.1	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	1	291	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	22					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.66C>G	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376499	0.24857	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93133	-3.17	4.92	3.06	0.35304	.	0.237602	0.45867	D	0.000324	D	0.85775	0.5775	N	0.25647	0.755	0.38926	D	0.95783	B	0.14805	0.011	B	0.14023	0.01	T	0.77230	-0.2664	10	0.25106	T	0.35	-14.1238	7.2195	0.25979	0.1942:0.0:0.8058:0.0	.	22	O60306	AQR_HUMAN	L	22	ENSP00000156471:F22L	ENSP00000156471:F22L	F	-	3	2	AQR	33049041	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	1.320000	0.33666	0.683000	0.31428	0.563000	0.77884	TTC		0.587	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691		8	31	0	0	0	1	0	8	31				
ZNF623	9831	broad.mit.edu	37	8	144732347	144732347	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:144732347G>A	ENST00000501748.2	+	1	394	c.305G>A	c.(304-306)aGa>aAa	p.R102K	ZNF623_ENST00000458270.2_Missense_Mutation_p.R62K|ZNF623_ENST00000526926.1_Missense_Mutation_p.R62K	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	102					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AAGTCAGGAAGAAACCATATT	0.498																																						ENST00000501748.2																			0				endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27						c.(304-306)aGa>aAa		zinc finger protein 623							85.0	85.0	85.0					8																	144732347		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732347G>A	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.305G>A	8.37:g.144732347G>A	ENSP00000445979:p.Arg102Lys					ZNF623_ENST00000526926.1_Missense_Mutation_p.R62K|ZNF623_ENST00000458270.2_Missense_Mutation_p.R62K	p.R102K	NM_014789.3	NP_055604.3	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	394	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		102					A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.305G>A	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.814466	0.00600	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.10288	2.89;2.89;2.89	4.35	0.313	0.15842	.	.	.	.	.	T	0.02304	0.0071	N	0.01076	-1.035	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.44726	-0.9309	9	0.02654	T	1	-9.1865	3.6777	0.08298	0.4263:0.1908:0.3829:0.0	.	102	O75123	ZN623_HUMAN	K	62;62;62;102;102	ENSP00000435232:R62K;ENSP00000411139:R62K;ENSP00000445979:R102K	ENSP00000330358:R62K	R	+	2	0	ZNF623	144803490	0.040000	0.19996	0.001000	0.08648	0.064000	0.16182	0.617000	0.24359	0.162000	0.19483	0.655000	0.94253	AGA		0.498	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789		28	100	0	0	0	1	0	28	100				
TMTC3	160418	broad.mit.edu	37	12	88584309	88584309	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr12:88584309G>A	ENST00000266712.6	+	12	1836	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	539					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						AACCTGATCCGAGCAAATGAG	0.438																																						ENST00000266712.6																			0				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						c.(1615-1617)cGa>cAa		transmembrane and tetratricopeptide repeat containing 3							95.0	85.0	88.0					12																	88584309		2203	4300	6503	SO:0001583	missense	160418					integral to membrane	binding	g.chr12:88584309G>A		CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1616G>A	12.37:g.88584309G>A	ENSP00000266712:p.Arg539Gln						p.R539Q	NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN			12	1836	+			539					Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	ENST00000266712.6	37	c.1616G>A	CCDS9032.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.532487	0.85812	.	.	ENSG00000139324	ENST00000266712	T	0.55930	0.49	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.37839	0.1018	N	0.14661	0.345	0.80722	D	1	P	0.37781	0.608	B	0.36134	0.218	T	0.18023	-1.0350	10	0.21540	T	0.41	-8.6802	19.1259	0.93384	0.0:0.0:1.0:0.0	.	539	Q6ZXV5-2	.	Q	539	ENSP00000266712:R539Q	ENSP00000266712:R539Q	R	+	2	0	TMTC3	87108440	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.708000	0.98727	2.593000	0.87608	0.655000	0.94253	CGA		0.438	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406421.1	NM_181783		17	56	0	0	0	1	0	17	56				
XIRP2	129446	broad.mit.edu	37	2	168102167	168102167	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:168102167G>C	ENST00000409195.1	+	9	4354	c.4265G>C	c.(4264-4266)aGa>aCa	p.R1422T	XIRP2_ENST00000295237.9_Missense_Mutation_p.R1422T|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1200T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1247					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGACAAGTAGACAATTCTTT	0.328																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(4264-4266)aGa>aCa		xin actin-binding repeat containing 2							58.0	52.0	54.0					2																	168102167		1827	4081	5908	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168102167G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.4265G>C	2.37:g.168102167G>C	ENSP00000386840:p.Arg1422Thr					XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1200T|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1422T|XIRP2_ENST00000409605.1_Intron	p.R1422T	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	4354	+			1247					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.4265G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	8.134	0.783764	0.16189	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02812	4.15;4.15;4.15	5.67	1.86	0.25419	.	0.101048	0.64402	D	0.000004	T	0.02304	0.0071	L	0.27053	0.805	0.23669	N	0.997151	B;B;B	0.16802	0.011;0.019;0.0	B;B;B	0.20767	0.01;0.031;0.0	T	0.44174	-0.9345	10	0.40728	T	0.16	-17.6182	6.4956	0.22140	0.7263:0.131:0.1427:0.0	.	1247;1247;1200	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1422;1422;1200	ENSP00000386840:R1422T;ENSP00000295237:R1422T;ENSP00000387255:R1200T	ENSP00000295237:R1422T	R	+	2	0	XIRP2	167810413	1.000000	0.71417	0.366000	0.25914	0.672000	0.39443	4.993000	0.63895	0.071000	0.16664	-0.414000	0.06135	AGA		0.328	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		6	36	0	0	0	1	0	6	36				
CLIC5	53405	broad.mit.edu	37	6	45909312	45909312	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:45909312G>C	ENST00000185206.6	-	4	1007	c.855C>G	c.(853-855)atC>atG	p.I285M	CLIC5_ENST00000339561.6_Missense_Mutation_p.I126M|CLIC5_ENST00000544153.1_Missense_Mutation_p.I126M	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	285	GST C-terminal.				auditory receptor cell stereocilium organization (GO:0060088)|chloride transport (GO:0006821)|diet induced thermogenesis (GO:0002024)|female pregnancy (GO:0007565)|neuromuscular process controlling balance (GO:0050885)|protein localization (GO:0008104)|sensory perception of sound (GO:0007605)|transport (GO:0006810)	actin cytoskeleton (GO:0015629)|chloride channel complex (GO:0034707)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|stereocilium (GO:0032420)	voltage-gated chloride channel activity (GO:0005247)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						TGGTATTTTTGATGTAGGCAG	0.502																																						ENST00000185206.6																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						c.(853-855)atC>atG		chloride intracellular channel 5							229.0	214.0	219.0					6																	45909312		2203	4300	6503	SO:0001583	missense	53405				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity	g.chr6:45909312G>C	AF216941	CCDS4914.1, CCDS47438.1, CCDS59022.1	6p12.3	2014-03-14			ENSG00000112782	ENSG00000112782		"""Ion channels / Chloride channels : Intracellular"""	13517	protein-coding gene	gene with protein product		607293				10793131	Standard	NM_001114086		Approved		uc003oxv.3	Q9NZA1	OTTHUMG00000014775	ENST00000185206.6:c.855C>G	6.37:g.45909312G>C	ENSP00000185206:p.Ile285Met					CLIC5_ENST00000339561.6_Missense_Mutation_p.I126M|CLIC5_ENST00000544153.1_Missense_Mutation_p.I126M	p.I285M	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN			4	1007	-			285			GST C-terminal.		B3KUF1|Q5T4Z0|Q8NBY3|Q96JT5|Q9BWZ0	Missense_Mutation	SNP	ENST00000185206.6	37	c.855C>G	CCDS47438.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557066	0.65425	.	.	ENSG00000112782	ENST00000185206;ENST00000339561;ENST00000544153	D;D;D	0.94138	-3.36;-3.36;-3.36	5.44	4.46	0.54185	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95996	0.8696	M	0.92317	3.295	0.53005	D	0.999961	P;P;P	0.44044	0.685;0.713;0.825	P;P;P	0.60415	0.637;0.751;0.874	D	0.95886	0.8903	10	0.59425	D	0.04	.	7.4349	0.27150	0.2177:0.0:0.7823:0.0	.	126;285;126	Q8NBY3;Q9NZA1;Q53G01	.;CLIC5_HUMAN;.	M	285;126;126	ENSP00000185206:I285M;ENSP00000344165:I126M;ENSP00000439195:I126M	ENSP00000185206:I285M	I	-	3	3	CLIC5	46017290	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.647000	0.37260	2.558000	0.86282	0.655000	0.94253	ATC		0.502	CLIC5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040761.1			22	70	0	0	0	1	0	22	70				
BMS1P20	96610	broad.mit.edu	37	22	22664639	22664639	+	RNA	SNP	G	G	A	rs9306349	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr22:22664639G>A	ENST00000426066.1	+	0	820					NR_027293.1				BMS1 pseudogene 20																		CCAGCCTTCTGTAACCCAGTA	0.428													.|||	2693	0.53774	0.6089	0.5115	5008	,	,		17865	0.4008		0.5577	False		,,,				2504	0.5808					ENST00000426066.1																			0																																																			96610							g.chr22:22664639G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664639G>A								NR_027293.1						0	820	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.428	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	45	0	0	0	1	0	4	45				
LRRC16A	55604	broad.mit.edu	37	6	25500420	25500420	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr6:25500420A>T	ENST00000329474.6	+	17	1720	c.1352A>T	c.(1351-1353)aAt>aTt	p.N451I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	451					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CTGGCTTGTAATCATAACTTG	0.428																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(1351-1353)aAt>aTt		leucine rich repeat containing 16A							156.0	144.0	148.0					6																	25500420		1893	4119	6012	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25500420A>T	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1352A>T	6.37:g.25500420A>T	ENSP00000331983:p.Asn451Ile						p.N451I	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			17	1720	+			451					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.1352A>T	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.507379	0.85282	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.55588	0.51	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.86502	2.82	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.78275	-0.2267	10	0.87932	D	0	.	15.6547	0.77124	1.0:0.0:0.0:0.0	.	451;451;451	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	I	451	ENSP00000331983:N451I	ENSP00000331983:N451I	N	+	2	0	LRRC16A	25608399	1.000000	0.71417	0.997000	0.53966	0.987000	0.75469	7.932000	0.87634	2.155000	0.67459	0.460000	0.39030	AAT		0.428	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		7	18	0	0	0	1	0	7	18				
MAGEB18	286514	broad.mit.edu	37	X	26158052	26158052	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chrX:26158052G>C	ENST00000325250.1	+	2	1137	c.950G>C	c.(949-951)aGa>aCa	p.R317T		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	317	Interaction with LNX1.					cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						ACCCAAGCCAGAGCTGCAGCC	0.517																																						ENST00000325250.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						c.(949-951)aGa>aCa		melanoma antigen family B, 18							52.0	31.0	38.0					X																	26158052		2202	4300	6502	SO:0001583	missense	286514						protein binding	g.chrX:26158052G>C	AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.950G>C	X.37:g.26158052G>C	ENSP00000314543:p.Arg317Thr						p.R317T	NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN			2	1137	+			317						Missense_Mutation	SNP	ENST00000325250.1	37	c.950G>C	CCDS14216.1	.	.	.	.	.	.	.	.	.	.	G	8.897	0.955504	0.18507	.	.	ENSG00000176774	ENST00000325250	T	0.02085	4.46	4.45	4.45	0.53987	.	0.764422	0.12013	N	0.507650	T	0.08537	0.0212	M	0.73217	2.22	0.09310	N	1	D	0.64830	0.994	P	0.56865	0.808	T	0.16394	-1.0404	10	0.44086	T	0.13	.	11.434	0.50058	0.0:0.0:1.0:0.0	.	317	Q96M61	MAGBI_HUMAN	T	317	ENSP00000314543:R317T	ENSP00000314543:R317T	R	+	2	0	MAGEB18	26067973	0.821000	0.29204	0.009000	0.14445	0.046000	0.14306	3.431000	0.52814	2.471000	0.83476	0.600000	0.82982	AGA		0.517	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056120.1	NM_173699		7	29	0	0	0	1	0	7	29				
EMC2	9694	broad.mit.edu	37	8	109465348	109465348	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:109465348A>G	ENST00000220853.3	+	4	312	c.277A>G	c.(277-279)Aca>Gca	p.T93A		NM_014673.3	NP_055488.1	Q15006	EMC2_HUMAN	ER membrane protein complex subunit 2	93						cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|ER membrane protein complex (GO:0072546)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											CAAGCGATTAACAGGCATGAG	0.368																																						ENST00000220853.3																			0											c.(277-279)Aca>Gca		ER membrane protein complex subunit 2							92.0	83.0	86.0					8																	109465348		2203	4300	6503	SO:0001583	missense	9694							g.chr8:109465348A>G	BC021667	CCDS6309.1	8q23.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000104412	ENSG00000104412			28963	protein-coding gene	gene with protein product		607722	"""tetratricopeptide repeat domain 35"""	KIAA0103, TTC35		7788527, 22119785	Standard	NM_014673		Approved		uc003ymw.1	Q15006	OTTHUMG00000164873	ENST00000220853.3:c.277A>G	8.37:g.109465348A>G	ENSP00000220853:p.Thr93Ala						p.T93A	NM_014673.3	NP_055488.1					4	312	+								Q8WUE1	Missense_Mutation	SNP	ENST00000220853.3	37	c.277A>G	CCDS6309.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.108498	0.37242	.	.	ENSG00000104412	ENST00000524143;ENST00000220853	T;T	0.72167	2.35;-0.63	6.03	4.86	0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.124889	0.56097	D	0.000038	T	0.53981	0.1830	N	0.16656	0.425	0.45183	D	0.998198	B	0.02656	0.0	B	0.01281	0.0	T	0.51164	-0.8740	10	0.36615	T	0.2	-17.0189	12.4563	0.55706	0.9338:0.0:0.0662:0.0	.	93	Q15006	TTC35_HUMAN	A	94;93	ENSP00000430122:T94A;ENSP00000220853:T93A	ENSP00000220853:T93A	T	+	1	0	TTC35	109534524	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.971000	0.40530	2.302000	0.77476	0.533000	0.62120	ACA		0.368	EMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380717.1	NM_014673		8	36	0	0	0	1	0	8	36				
FOSL2	2355	broad.mit.edu	37	2	28634938	28634951	+	Frame_Shift_Del	DEL	CCAGCCCCTGGGCT	CCAGCCCCTGGGCT	-	rs112106981		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:28634938_28634951delCCAGCCCCTGGGCT	ENST00000264716.4	+	4	1467_1480	c.604_617delCCAGCCCCTGGGCT	c.(604-618)ccagcccctgggctgfs	p.PAPGL202fs	FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PAPGL163fs|FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PAPGL194fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	202					cell death (GO:0008219)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to progesterone (GO:0032570)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L206M(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CCGATCGCCCCCAGCCCCTGGGCTGCAGCCCATG	0.659																																						ENST00000264716.4																			1	Substitution - Missense(1)	p.L206M(1)	skin(1)	breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(604-618)gfs		FOS-like antigen 2																																				SO:0001589	frameshift_variant	2355				cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:28634938_28634951delCCAGCCCCTGGGCT		CCDS1766.1	2p23.3	2013-01-10			ENSG00000075426	ENSG00000075426		"""basic leucine zipper proteins"""	3798	protein-coding gene	gene with protein product		601575					Standard	NM_005253		Approved	FRA2, FLJ23306	uc002rma.3	P15408	OTTHUMG00000097832	ENST00000264716.4:c.604_617delCCAGCCCCTGGGCT	2.37:g.28634938_28634951delCCAGCCCCTGGGCT	ENSP00000264716:p.Pro202fs					FOSL2_ENST00000379619.1_Frame_Shift_Del_p.PAPGL194fs|FOSL2_ENST00000545753.1_Frame_Shift_Del_p.PAPGL163fs	p.PAPGL202fs	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN			4	1467_1480	+	Acute lymphoblastic leukemia(172;0.155)		202					B2RD58|B3KP27|B4DYV4|Q6FG46	Frame_Shift_Del	DEL	ENST00000264716.4	37	c.604_617delCCAGCCCCTGGGCT	CCDS1766.1																																																																																				0.659	FOSL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215116.2	NM_005253		36	56						36	56	---	---	---	---
AC073321.4	0	broad.mit.edu	37	2	217475010	217475010	+	lincRNA	DEL	G	G	-	rs370329361		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr2:217475010delG	ENST00000441803.1	+	0	195																											ttttttttttGAAAGAAAGGC	0.393																																						ENST00000441803.1																			0																																																			0							g.chr2:217475010delG																													2.37:g.217475010delG														0	195	+									RNA	DEL	ENST00000441803.1	37																																																																																						0.393	AC073321.4-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000339548.2			3	3						3	3	---	---	---	---
CTC-338M12.9	0	broad.mit.edu	37	5	180708776	180708777	+	lincRNA	INS	-	-	G	rs140221514|rs61118356		TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr5:180708776_180708777insG	ENST00000412295.2	+	0	238																											gggcggtaggagggggctggag	0.728																																						ENST00000412295.2																			0																																																			0							g.chr5:180708776_180708777insG																													5.37:g.180708781_180708781dupG														0	238	+									RNA	INS	ENST00000412295.2	37																																																																																						0.728	CTC-338M12.9-001	KNOWN	basic|exp_conf	lincRNA	lincRNA	OTTHUMT00000372940.1			4	6						4	6	---	---	---	---
RP11-941H19.3	0	broad.mit.edu	37	8	81213789	81213794	+	lincRNA	DEL	CACACA	CACACA	-	rs539520358|rs549558736|rs71266069|rs62517186	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr8:81213789_81213794delCACACA	ENST00000522044.1	+	0	404																											CCCCCACCACcacacacacacacaca	0.544																																						ENST00000522044.1																			0																																																			0							g.chr8:81213789_81213794delCACACA																													8.37:g.81213795_81213800delCACACA														0	404	+									RNA	DEL	ENST00000522044.1	37																																																																																						0.544	RP11-941H19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000379180.1			3	4						3	4	---	---	---	---
FRMD8	83786	broad.mit.edu	37	11	65156899	65156899	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:65156899delG	ENST00000317568.5	+	3	316	c.153delG	c.(151-153)tcgfs	p.S51fs	FRMD8_ENST00000416776.2_Frame_Shift_Del_p.S51fs|FRMD8_ENST00000355991.5_Intron	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	51	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						ACCTGCCCTCGCTCAGTGCCC	0.652																																						ENST00000317568.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						c.(151-153)tcfs		FERM domain containing 8							87.0	65.0	73.0					11																	65156899		2201	4297	6498	SO:0001589	frameshift_variant	83786					cytoskeleton	binding	g.chr11:65156899delG	AK074850	CCDS8102.1, CCDS73320.1	11q13.1	2007-08-14			ENSG00000126391	ENSG00000126391			25462	protein-coding gene	gene with protein product						12477932	Standard	NM_031904		Approved	FLJ90369, FKSG44	uc001odu.4	Q9BZ67	OTTHUMG00000166275	ENST00000317568.5:c.153delG	11.37:g.65156899delG	ENSP00000319726:p.Ser51fs					FRMD8_ENST00000416776.2_Frame_Shift_Del_p.S51fs|FRMD8_ENST00000355991.5_Intron	p.S51fs	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN			3	316	+			51			FERM.		B4E2P1|Q86V56|Q8NCB5	Frame_Shift_Del	DEL	ENST00000317568.5	37	c.153delG	CCDS8102.1																																																																																				0.652	FRMD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388833.1	NM_031904		31	95						31	95	---	---	---	---
ACTN3	89	broad.mit.edu	37	11	66321927	66321928	+	RNA	INS	-	-	A	rs56394515|rs574346914	byFrequency	TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr11:66321927_66321928insA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						gaccctgtctcaaaaaaaaaaa	0.54													|||unknown(HR)	1645	0.328474	0.4433	0.2493	5008	,	,		13398	0.3323		0.3549	False		,,,				2504	0.1984					ENST00000513398.1																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10								actinin, alpha 3 (gene/pseudogene)																																						89				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle	g.chr11:66321927_66321928insA	M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66321938_66321938dupA						ACTN3_ENST00000502692.1_RNA		NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN			0	566	+								A6NP77|Q4KKV2	RNA	INS	ENST00000502692.1	37																																																																																						0.540	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000362465.1	NM_001104		3	4						3	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577111	7577112	+	In_Frame_Ins	INS	-	-	CACAAA			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr17:7577111_7577112insCACAAA	ENST00000269305.4	-	8	1015_1016	c.826_827insTTTGTG	c.(826-828)gcc>gTTTGTGcc	p.275_276insVC	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_In_Frame_Ins_p.275_276insVC|TP53_ENST00000359597.4_In_Frame_Ins_p.275_276insVC|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_In_Frame_Ins_p.275_276insVC|TP53_ENST00000420246.2_In_Frame_Ins_p.275_276insVC	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		A -> D (in sporadic cancers; somatic mutation).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7887414}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.A276P(15)|p.A276S(9)|p.0?(8)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.A276G(4)|p.A276fs*69(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCCAGGACAGGCACAAACACGC	0.545		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		75	Substitution - Missense(48)|Whole gene deletion(8)|Deletion - In frame(7)|Deletion - Frameshift(5)|Insertion - Frameshift(2)|Unknown(2)|Complex - frameshift(2)|Insertion - In frame(1)	p.A276P(15)|p.A276S(9)|p.0?(8)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.A276G(4)|p.A276fs*69(2)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.A276fs*31(1)|p.C275_R283delCACPGRDRR(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275fs*20(1)	haematopoietic_and_lymphoid_tissue(13)|upper_aerodigestive_tract(6)|central_nervous_system(6)|breast(6)|bone(6)|lung(5)|biliary_tract(4)|stomach(4)|large_intestine(4)|urinary_tract(4)|thymus(3)|skin(3)|ovary(3)|oesophagus(2)|prostate(2)|soft_tissue(1)|kidney(1)|endometrium(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(826-828)ctg>TTTGTGctg	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001652	inframe_insertion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577111_7577112insCACAAA	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.821_826dupTTTGTG	17.37:g.7577112_7577117dupCACAAA	ENSP00000269305:p.Val274_Cys275dup	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_In_Frame_Ins_p.275_276insFV|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_In_Frame_Ins_p.275_276insFV|TP53_ENST00000269305.4_In_Frame_Ins_p.275_276insFV|TP53_ENST00000455263.2_In_Frame_Ins_p.275_276insFV	p.275_276insFV	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	958_959	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	275		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Ins	INS	ENST00000269305.4	37	c.826_827insTTTGTG	CCDS11118.1																																																																																				0.545	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		11	37						11	37	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2340499	2340499	+	RNA	DEL	G	G	-			TCGA-CQ-7069-01A-11D-2394-08	TCGA-CQ-7069-10A-01D-2394-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33d8d1bd-6131-4d2b-8b70-89be0ef1dee9	86ad483e-92e1-4e14-ada6-d41574713c7a	g.chr19:2340499delG	ENST00000452401.2	+	0	916							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCTTGGCCTGGCTCTTAGGG	0.637																																						ENST00000452401.2																			0													signal peptide peptidase like 2B							6.0	6.0	6.0					19																	2340499		864	1974	2838			56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2340499delG		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2340499delG						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	916	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	DEL	ENST00000452401.2	37																																																																																						0.637	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		2	4						2	4	---	---	---	---
