#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
OR1I1	126370	broad.mit.edu	37	19	15198440	15198440	+	Silent	SNP	C	C	T	rs147792989	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:15198440C>T	ENST00000209540.2	+	1	650	c.564C>T	c.(562-564)tcC>tcT	p.S188S		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	188						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S188S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						TGAAGCTCTCCGGCTCAGACA	0.547													C|||	15	0.00299521	0.0113	0.0	5008	,	,		22376	0.0		0.0	False		,,,				2504	0.0					ENST00000209540.2																			1	Substitution - coding silent(1)	p.S188S(1)	large_intestine(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						c.(562-564)tcC>tcT		olfactory receptor, family 1, subfamily I, member 1		C		17,4389	24.3+/-50.5	0,17,2186	117.0	104.0	108.0		564	4.8	1.0	19	dbSNP_134	108	0,8600		0,0,4300	no	coding-synonymous	OR1I1	NM_001004713.1		0,17,6486	TT,TC,CC		0.0,0.3858,0.1307		188/356	15198440	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	126370				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15198440C>T	AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.564C>T	19.37:g.15198440C>T							p.S188S	NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN			1	650	+			188					Q96R92	Silent	SNP	ENST00000209540.2	37	c.564C>T	CCDS32937.1																																																																																				0.547	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			50	36	0	0	0	1	0	50	36				
MZF1	7593	broad.mit.edu	37	19	59074376	59074376	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074376C>A	ENST00000215057.2	-	6	1828	c.1268G>T	c.(1267-1269)cGc>cTc	p.R423L	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.R423L|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	423					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCGCGCGCTGCGCACGAAGCC	0.687																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1267-1269)cGc>cTc		myeloid zinc finger 1							15.0	17.0	16.0					19																	59074376		2179	4253	6432	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59074376C>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1268G>T	19.37:g.59074376C>A	ENSP00000215057:p.Arg423Leu					MZF1_ENST00000599369.1_Missense_Mutation_p.R423L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	p.R423L	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	1828	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	423					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.1268G>T	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	.	16.09	3.024012	0.54683	.	.	ENSG00000099326	ENST00000215057	T	0.06218	3.33	3.45	1.33	0.21861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.381620	0.19432	N	0.114401	T	0.05960	0.0155	L	0.48642	1.525	0.09310	N	0.999994	P	0.35527	0.507	B	0.34180	0.177	T	0.28839	-1.0031	10	0.45353	T	0.12	-28.9067	7.0205	0.24912	0.0:0.7642:0.0:0.2358	.	423	P28698	MZF1_HUMAN	L	423	ENSP00000215057:R423L	ENSP00000215057:R423L	R	-	2	0	MZF1	63766188	0.000000	0.05858	0.778000	0.31720	0.963000	0.63663	-0.382000	0.07408	0.451000	0.26802	0.460000	0.39030	CGC		0.687	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		18	48	1	0	1.01871e-10	1	1.15537e-10	18	48				
KIAA0319	9856	broad.mit.edu	37	6	24596359	24596359	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24596359C>T	ENST00000378214.3	-	3	1067	c.543G>A	c.(541-543)gaG>gaA	p.E181E	KIAA0319_ENST00000430948.2_Silent_p.E136E|KIAA0319_ENST00000537886.1_Silent_p.E181E|KIAA0319_ENST00000535378.1_Silent_p.E172E|KIAA0319_ENST00000543707.1_Silent_p.E181E	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	181					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTCCGTGTACTCGGCACTCC	0.637																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(514-516)gaG>gaA		KIAA0319							47.0	48.0	48.0					6																	24596359		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596359C>T	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.543G>A	6.37:g.24596359C>T						KIAA0319_ENST00000537886.1_Silent_p.E181E|KIAA0319_ENST00000378214.3_Silent_p.E181E|KIAA0319_ENST00000543707.1_Silent_p.E181E|KIAA0319_ENST00000430948.2_Silent_p.E136E	p.E172E	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1158	-			181					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.516G>A	CCDS34348.1																																																																																				0.637	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		31	31	0	0	0	1	0	31	31				
RASL10B	91608	broad.mit.edu	37	17	34062267	34062267	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:34062267C>T	ENST00000268864.3	+	2	441	c.64C>T	c.(64-66)Cgc>Tgc	p.R22C		NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN	RAS-like, family 10, member B	22	Small GTPase-like.				GTP catabolic process (GO:0006184)|positive regulation of peptide hormone secretion (GO:0090277)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCATCGTGCGCCAGTTCTT	0.672																																						ENST00000268864.3																			0				breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(64-66)Cgc>Tgc		RAS-like, family 10, member B							93.0	78.0	83.0					17																	34062267		2203	4300	6503	SO:0001583	missense	91608				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	g.chr17:34062267C>T	BC041133	CCDS11297.1	17q21.1	2014-05-09			ENSG00000141150	ENSG00000270885			30295	protein-coding gene	gene with protein product		612128				12477932	Standard	NM_033315		Approved	VTS58635, RRP17	uc002hju.3	Q96S79	OTTHUMG00000188385	ENST00000268864.3:c.64C>T	17.37:g.34062267C>T	ENSP00000268864:p.Arg22Cys						p.R22C	NM_033315.3	NP_201572.1	Q96S79	RSLAB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	441	+			22			Small GTPase-like.		B3KV31	Missense_Mutation	SNP	ENST00000268864.3	37	c.64C>T	CCDS11297.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.194648	0.78902	.	.	ENSG00000141150	ENST00000268864	T	0.80304	-1.36	3.98	3.98	0.46160	.	0.000000	0.43260	D	0.000600	D	0.87834	0.6277	M	0.73430	2.235	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	D	0.88836	0.3309	10	0.66056	D	0.02	.	12.1302	0.53938	0.1713:0.8287:0.0:0.0	.	22	Q96S79	RSLAB_HUMAN	C	22	ENSP00000268864:R22C	ENSP00000268864:R22C	R	+	1	0	RASL10B	31086380	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.523000	0.67099	2.060000	0.61445	0.462000	0.41574	CGC		0.672	RASL10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256498.2	NM_033315		31	42	0	0	0	1	0	31	42				
RAPGEF4	11069	broad.mit.edu	37	2	173830397	173830397	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:173830397G>T	ENST00000397081.3	+	9	949	c.806G>T	c.(805-807)gGt>gTt	p.G269V	RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000264111.6_Missense_Mutation_p.G268V|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G98V|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G125V|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G269V|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G49V	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	269	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TTAGAAGATGGTGTTCTCAAC	0.502																																						ENST00000264111.6																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(802-804)gGt>gTt		Rap guanine nucleotide exchange factor (GEF) 4							141.0	143.0	143.0					2																	173830397		2078	4227	6305	SO:0001583	missense	11069				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity	g.chr2:173830397G>T	U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.806G>T	2.37:g.173830397G>T	ENSP00000380271:p.Gly269Val					RAPGEF4_ENST00000539331.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000409036.1_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.G269V|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.G125V|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.G116V|RAPGEF4_ENST00000538974.1_Missense_Mutation_p.G98V|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.G49V|RAPGEF4_ENST00000473043.1_3'UTR	p.G268V			Q8WZA2	RPGF4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.194)		9	990	+			269			DEP.		B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Missense_Mutation	SNP	ENST00000397081.3	37	c.803G>T	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.671752	0.88348	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036;ENST00000397087;ENST00000538974;ENST00000540783;ENST00000539331;ENST00000539767;ENST00000535187	T;T;T;T;T;T;T;T	0.22134	1.97;1.97;1.97;1.97;1.97;1.97;1.97;1.97	5.55	5.55	0.83447	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.204155	0.51477	D	0.000092	T	0.62122	0.2402	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.991;1.0;1.0;0.999	D;P;D;D;D	0.87578	0.982;0.721;0.996;0.998;0.98	T	0.74447	-0.3662	10	0.87932	D	0	.	19.4992	0.95086	0.0:0.0:1.0:0.0	.	96;98;125;269;269	B7Z805;B7Z2R0;Q8WZA2-3;Q8WZA2;E9PB94	.;.;.;RPGF4_HUMAN;.	V	268;269;269;125;98;116;116;96;49	ENSP00000264111:G268V;ENSP00000380271:G269V;ENSP00000387104:G269V;ENSP00000380276:G125V;ENSP00000440135:G98V;ENSP00000440250:G116V;ENSP00000437384:G116V;ENSP00000438011:G49V	ENSP00000264111:G268V	G	+	2	0	RAPGEF4	173538643	1.000000	0.71417	0.893000	0.35052	0.992000	0.81027	8.031000	0.88826	2.598000	0.87819	0.655000	0.94253	GGT		0.502	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023		4	85	1	0	0.00909568	1	0.00929559	4	85				
PIK3CA	5290	broad.mit.edu	37	3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	rs121913281		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047Y(37)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		37	Substitution - Missense(37)	p.H1047Y(37)	large_intestine(15)|endometrium(13)|breast(5)|ovary(3)|central_nervous_system(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(3139-3141)Cat>Tat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							100.0	89.0	92.0					3																	178952084		1912	4132	6044	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178952084C>T		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3139C>T	3.37:g.178952084C>T	ENSP00000263967:p.His1047Tyr	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.H1047Y	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		21	3296	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1047		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).	PI3K/PI4K.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.3139C>T	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	C	13.22	2.173289	0.38413	.	.	ENSG00000121879	ENST00000263967	T	0.80480	-1.38	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.54208	0.1844	N	0.00265	-1.74	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.56908	-0.7901	10	0.36615	T	0.2	-21.2893	20.6721	0.99693	0.0:1.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	Y	1047	ENSP00000263967:H1047Y	ENSP00000263967:H1047Y	H	+	1	0	PIK3CA	180434778	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.403000	0.79983	2.894000	0.99253	0.591000	0.81541	CAT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			36	40	0	0	0	1	0	36	40				
TTC27	55622	broad.mit.edu	37	2	32983377	32983377	+	Nonsense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:32983377C>T	ENST00000317907.4	+	13	1702	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	491										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						AATCCTTAGACAAGAGCTGGA	0.383																																						ENST00000317907.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1471-1473)Caa>Taa		tetratricopeptide repeat domain 27							68.0	70.0	69.0					2																	32983377		2203	4300	6503	SO:0001587	stop_gained	55622						protein binding	g.chr2:32983377C>T	BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.1471C>T	2.37:g.32983377C>T	ENSP00000313953:p.Gln491*						p.Q491*	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN			13	1702	+			491					A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Nonsense_Mutation	SNP	ENST00000317907.4	37	c.1471C>T	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563331	0.86335	.	.	ENSG00000018699	ENST00000317907	.	.	.	5.79	4.91	0.64330	.	0.065107	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-5.7529	16.31	0.82865	0.1334:0.8666:0.0:0.0	.	.	.	.	X	491	.	ENSP00000313953:Q491X	Q	+	1	0	TTC27	32836881	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	2.569000	0.45973	1.439000	0.47511	0.655000	0.94253	CAA		0.383	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		4	87	0	0	0	1	0	4	87				
TBC1D8	11138	broad.mit.edu	37	2	101648744	101648744	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:101648744T>C	ENST00000376840.4	-	11	1876	c.1877A>G	c.(1876-1878)aAc>aGc	p.N626S	TBC1D8_ENST00000409318.1_Missense_Mutation_p.N641S			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	626	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CACTCGGTGGTTGAAGTAATC	0.532																																						ENST00000409318.1																			0				breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						c.(1921-1923)aAc>aGc		TBC1 domain family, member 8 (with GRAM domain)							81.0	86.0	84.0					2																	101648744		2123	4253	6376	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101648744T>C	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.1877A>G	2.37:g.101648744T>C	ENSP00000366036:p.Asn626Ser					TBC1D8_ENST00000376840.4_Missense_Mutation_p.N626S	p.N641S	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN			11	2052	-			626			Rab-GAP TBC.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.1922A>G	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	T	16.38	3.106184	0.56291	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	T;T	0.10960	2.82;2.82	5.02	3.87	0.44632	Rab-GAP/TBC domain (4);	0.000000	0.64402	D	0.000002	T	0.08358	0.0208	N	0.16130	0.375	0.44780	D	0.99778	P	0.46457	0.878	P	0.48227	0.571	T	0.37079	-0.9721	10	0.12430	T	0.62	-38.7033	10.3903	0.44164	0.0:0.0771:0.0:0.9229	.	626	O95759	TBCD8_HUMAN	S	626;641	ENSP00000366036:N626S;ENSP00000386856:N641S	ENSP00000366036:N626S	N	-	2	0	TBC1D8	101015176	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.125000	0.71627	0.768000	0.33290	0.533000	0.62120	AAC		0.532	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063		28	44	0	0	0	1	0	28	44				
SMARCA4	6597	broad.mit.edu	37	19	11170774	11170774	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:11170774C>T	ENST00000429416.3	+	35	5103	c.4822C>T	c.(4822-4824)Cgg>Tgg	p.R1608W	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1577W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1578W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1575W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1578W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1577W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1608W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1574W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R1640W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1608					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCACAGGACCGGCTGAAGGG	0.652			"""F, N, Mis"""		NSCLC																																	ENST00000358026.2				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(4918-4920)Cgg>Tgg		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4							14.0	14.0	14.0					19																	11170774		2080	4058	6138	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11170774C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.4822C>T	19.37:g.11170774C>T	ENSP00000395654:p.Arg1608Trp					SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1608W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1578W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1608W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1574W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1578W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1577W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1575W|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1577W	p.R1640W	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN			35	5202	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	1608					B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.4918C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707480	0.68615	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D	0.87412	-2.25;-2.24;-2.25;-2.24;-2.24;-2.24	4.57	1.11	0.20524	.	0.135317	0.45606	D	0.000350	D	0.83280	0.5220	N	0.22421	0.69	0.30570	N	0.763592	D;D;D;B;D;D	0.76494	0.998;0.999;0.998;0.037;0.998;0.999	P;P;P;B;P;P	0.57425	0.739;0.82;0.739;0.002;0.739;0.82	T	0.79764	-0.1666	10	0.66056	D	0.02	-34.9469	6.8408	0.23961	0.4418:0.4756:0.0:0.0826	.	1577;1574;1575;1640;1578;1608	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;P51532	.;.;.;.;.;SMCA4_HUMAN	W	1608;1640;1642;1608;1575;1574;1577;1578	ENSP00000395654:R1608W;ENSP00000350720:R1640W;ENSP00000343896:R1608W;ENSP00000392837:R1574W;ENSP00000397783:R1577W;ENSP00000414727:R1578W	ENSP00000343896:R1608W	R	+	1	2	SMARCA4	11031774	0.023000	0.18921	0.039000	0.18376	0.977000	0.68977	0.258000	0.18387	0.151000	0.19162	0.561000	0.74099	CGG		0.652	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		3	7	0	0	0	1	0	3	7				
ZFC3H1	196441	broad.mit.edu	37	12	72057258	72057258	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:72057258T>C	ENST00000378743.3	-	1	491	c.133A>G	c.(133-135)Agc>Ggc	p.S45G	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCGCCGCCGCTGCTGCTGCTG	0.637											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)Agc>Ggc		zinc finger, C3H1-type containing							52.0	64.0	60.0					12																	72057258		2075	4216	6291	SO:0001583	missense	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057258T>C	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133A>G	12.37:g.72057258T>C	ENSP00000368017:p.Ser45Gly		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S45G|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S45G|THAP2_ENST00000308086.2_5'UTR	p.S45G	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	ENST00000378743.3	37	c.133A>G	CCDS41813.1	.	.	.	.	.	.	.	.	.	.	T	8.666	0.901632	0.17760	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.33216	1.42	4.99	3.84	0.44239	.	0.217636	0.37012	N	0.002291	T	0.14614	0.0353	N	0.14661	0.345	0.80722	D	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.08046	-1.0741	10	0.10636	T	0.68	.	7.4373	0.27162	0.0:0.0974:0.0:0.9026	.	45;45;45	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	G	45	ENSP00000368017:S45G	ENSP00000368017:S45G	S	-	1	0	ZFC3H1	70343525	0.460000	0.25776	0.997000	0.53966	0.947000	0.59692	1.015000	0.29963	0.926000	0.37118	0.455000	0.32223	AGC		0.637	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		5	145	0	0	0	1	0	5	145				
BMS1P20	96610	broad.mit.edu	37	22	22664743	22664743	+	RNA	SNP	G	G	A	rs371682346		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:22664743G>A	ENST00000426066.1	+	0	924					NR_027293.1				BMS1 pseudogene 20																		CAGACTAAAGGCAAACAAGGA	0.498																																						ENST00000426066.1																			0																																																			0							g.chr22:22664743G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664743G>A								NR_027293.1						0	924	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			5	115	0	0	0	1	0	5	115				
MERTK	10461	broad.mit.edu	37	2	112686937	112686937	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:112686937G>T	ENST00000295408.4	+	2	559	c.302G>T	c.(301-303)gGa>gTa	p.G101V	MERTK_ENST00000421804.2_Missense_Mutation_p.G101V|MERTK_ENST00000409780.1_Intron|RN7SL297P_ENST00000483161.2_RNA			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	101	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.G101V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						CACACAGTTGGACACATAATA	0.448																																						ENST00000295408.4																			1	Substitution - Missense(1)	p.G101V(1)	large_intestine(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						c.(301-303)gGa>gTa		c-mer proto-oncogene tyrosine kinase							106.0	97.0	100.0					2																	112686937		2203	4300	6503	SO:0001583	missense	10461				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr2:112686937G>T	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.302G>T	2.37:g.112686937G>T	ENSP00000295408:p.Gly101Val					MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.G101V	p.G101V			Q12866	MERTK_HUMAN			2	559	+			101			Ig-like C2-type 1.		Q9HBB4	Missense_Mutation	SNP	ENST00000295408.4	37	c.302G>T	CCDS2094.1	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524408	0.44969	.	.	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.66638	-0.22;-0.22	4.13	4.13	0.48395	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);	0.000000	0.33477	U	0.004872	T	0.74268	0.3694	L	0.56769	1.78	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.69480	-0.5134	10	0.08179	T	0.78	-17.8289	13.7598	0.62959	0.0:0.0:1.0:0.0	.	101	Q12866	MERTK_HUMAN	V	101	ENSP00000295408:G101V;ENSP00000389152:G101V	ENSP00000295408:G101V	G	+	2	0	MERTK	112403408	1.000000	0.71417	0.992000	0.48379	0.255000	0.26057	4.853000	0.62911	2.277000	0.76020	0.557000	0.71058	GGA		0.448	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254046.2			26	51	1	0	1.26454e-06	1	1.38356e-06	26	51				
HSPA6	3310	broad.mit.edu	37	1	161495873	161495873	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:161495873G>C	ENST00000309758.4	+	1	1838	c.1425G>C	c.(1423-1425)caG>caC	p.Q475H	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	475					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GAGTCCCCCAGATAGAGGTGA	0.537																																						ENST00000309758.4																			0				endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21						c.(1423-1425)caG>caC		heat shock 70kDa protein 6 (HSP70B')							69.0	66.0	67.0					1																	161495873		2203	4300	6503	SO:0001583	missense	3310				response to unfolded protein		ATP binding	g.chr1:161495873G>C		CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1425G>C	1.37:g.161495873G>C	ENSP00000310219:p.Gln475His						p.Q475H	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		1	1838	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		475					Q1HBA8|Q8IYK7|Q9BT95	Missense_Mutation	SNP	ENST00000309758.4	37	c.1425G>C	CCDS1231.1	.	.	.	.	.	.	.	.	.	.	.	16.99	3.273569	0.59649	.	.	ENSG00000173110	ENST00000309758;ENST00000545155	T	0.01172	5.23	3.5	2.54	0.30619	.	0.733114	0.11096	U	0.600228	T	0.03608	0.0103	H	0.97758	4.07	0.37243	D	0.906228	P	0.40660	0.726	P	0.48270	0.572	T	0.00647	-1.1628	10	0.87932	D	0	.	8.8164	0.34998	0.1199:0.0:0.8801:0.0	.	475	P17066	HSP76_HUMAN	H	475;451	ENSP00000310219:Q475H	ENSP00000310219:Q475H	Q	+	3	2	HSPA6	159762497	1.000000	0.71417	0.703000	0.30354	0.943000	0.58893	4.570000	0.60872	1.760000	0.52011	0.591000	0.81541	CAG		0.537	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083308.1	NM_002155		16	50	0	0	0	1	0	16	50				
CYP2B7P	1556	broad.mit.edu	37	19	41450388	41450388	+	RNA	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:41450388C>G	ENST00000597260.1	+	0	0				CYP2B7P1_ENST00000599198.1_RNA																							CATTGTCACCCAACACACCAG	0.537																																						ENST00000599198.1																			0				NS(1)|endometrium(6)|kidney(1)|lung(2)|ovary(1)|skin(1)	12																																														0							g.chr19:41450388C>G																													19.37:g.41450388C>G								NR_001278.1						0	1171	+									RNA	SNP	ENST00000597260.1	37			.	.	.	.	.	.	.	.	.	.	C	8.364	0.833760	0.16820	.	.	ENSG00000256612	ENST00000541697	.	.	.	3.55	1.16	0.20824	.	0.575045	0.18590	N	0.136758	T	0.50497	0.1619	.	.	.	.	.	.	.	.	.	.	.	.	T	0.59316	-0.7477	5	0.39692	T	0.17	.	8.5966	0.33718	0.6253:0.3747:0.0:0.0	.	.	.	.	E	373	.	ENSP00000441190:Q373E	Q	+	1	0	AC008537.4	46142228	0.000000	0.05858	0.722000	0.30670	0.030000	0.12068	-0.777000	0.04669	0.547000	0.28938	-0.755000	0.03482	CAA		0.537	AC092071.1-001	KNOWN	basic	sense_intronic	sense_intronic	OTTHUMT00000463563.1			15	19	0	0	0	1	0	15	19				
IP6K1	9807	broad.mit.edu	37	3	49764567	49764567	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:49764567G>C	ENST00000321599.4	-	6	1615	c.1314C>G	c.(1312-1314)gaC>gaG	p.D438E	IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000395238.1_Missense_Mutation_p.D273E|IP6K1_ENST00000460540.1_Missense_Mutation_p.D273E	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	438					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)	p.D438D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						ACTGGTTCTCGTCCCGCATCT	0.587																																						ENST00000321599.4																			1	Substitution - coding silent(1)	p.D438D(1)	breast(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						c.(1312-1314)gaC>gaG		inositol hexakisphosphate kinase 1							66.0	66.0	66.0					3																	49764567		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49764567G>C	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.1314C>G	3.37:g.49764567G>C	ENSP00000323780:p.Asp438Glu					IP6K1_ENST00000395238.1_Missense_Mutation_p.D273E|IP6K1_ENST00000468463.1_3'UTR|IP6K1_ENST00000460540.1_Missense_Mutation_p.D273E	p.D438E	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN			6	1615	-			438					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.1314C>G	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	G	2.300	-0.360341	0.05103	.	.	ENSG00000176095	ENST00000321599;ENST00000395238;ENST00000460540	T;T;T	0.12672	2.66;2.66;2.66	5.5	1.03	0.20045	.	0.190316	0.48286	D	0.000181	T	0.03011	0.0089	N	0.02802	-0.49	0.35721	D	0.817151	B	0.02656	0.0	B	0.06405	0.002	T	0.35895	-0.9770	10	0.02654	T	1	-29.2836	0.398	0.00421	0.3355:0.2192:0.2517:0.1936	.	438	Q92551	IP6K1_HUMAN	E	438;273;273	ENSP00000323780:D438E;ENSP00000378659:D273E;ENSP00000420762:D273E	ENSP00000323780:D438E	D	-	3	2	IP6K1	49739571	0.013000	0.17824	1.000000	0.80357	0.996000	0.88848	-0.949000	0.03893	0.676000	0.31285	0.467000	0.42956	GAC		0.587	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		31	28	0	0	0	1	0	31	28				
ARFRP1	10139	broad.mit.edu	37	20	62331872	62331872	+	Missense_Mutation	SNP	G	G	A	rs367735078		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr20:62331872G>A	ENST00000359715.5	-	7	1095	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	ARFRP1_ENST00000324228.2_Missense_Mutation_p.R177C|ARFRP1_ENST00000607873.1_Missense_Mutation_p.R130C|ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000609142.1_3'UTR|ARFRP1_ENST00000440854.1_3'UTR			Q13795	ARFRP_HUMAN	ADP-ribosylation factor related protein 1	177					gastrulation (GO:0007369)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|protein localization to Golgi apparatus (GO:0034067)|retrograde transport, endosome to Golgi (GO:0042147)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)			ATGCCCTCGCGCACCCCTTTG	0.697																																						ENST00000359715.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	7						c.(529-531)Cgc>Tgc		ADP-ribosylation factor related protein 1		G	,CYS/ARG	1,4401		0,1,2200	45.0	44.0	44.0		,529	4.3	0.7	20		44	0,8588		0,0,4294	no	utr-3,missense	ARFRP1	NM_001134758.1,NM_003224.3	,180	0,1,6494	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,177/202	62331872	1,12989	2201	4294	6495	SO:0001583	missense	10139				small GTPase mediated signal transduction	Golgi apparatus|membrane fraction	GTP binding|GTPase activity	g.chr20:62331872G>A	X91504	CCDS13533.1, CCDS46630.1, CCDS68172.1, CCDS68173.1	20q13.3	2014-05-09			ENSG00000101246	ENSG00000101246		"""ADP-ribosylation factors"""	662	protein-coding gene	gene with protein product		604699				8530503	Standard	NM_003224		Approved	ARP, Arp1, ARL18	uc031rup.1	Q13795	OTTHUMG00000032993	ENST00000359715.5:c.529C>T	20.37:g.62331872G>A	ENSP00000352746:p.Arg177Cys					ARFRP1_ENST00000485858.1_5'UTR|ARFRP1_ENST00000324228.2_Missense_Mutation_p.R177C|ARFRP1_ENST00000440854.1_3'UTR	p.R177C			Q13795	ARFRP_HUMAN	Epithelial(9;4.09e-08)|all cancers(9;1.7e-07)|OV - Ovarian serous cystadenocarcinoma(5;0.0102)		7	1095	-	all_cancers(38;9.53e-13)|all_epithelial(29;2.64e-14)|Lung NSC(23;7e-10)|all_lung(23;2.53e-09)		177					B7ZKX7|E1P5J9|Q6IBQ0	Missense_Mutation	SNP	ENST00000359715.5	37	c.529C>T	CCDS13533.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.7|21.7	4.187958|4.187958	0.78789|0.78789	2.27E-4|2.27E-4	0.0|0.0	ENSG00000101246|ENSG00000101246	ENST00000217224|ENST00000359715;ENST00000324228	.|D;D	.|0.82711	.|-1.64;-1.64	5.3|5.3	4.3|4.3	0.51218|0.51218	.|Small GTP-binding protein domain (1);	.|0.413473	.|0.27861	.|N	.|0.017551	D|D	0.82287|0.82287	0.5004|0.5004	L|L	0.39147|0.39147	1.195|1.195	0.80722|0.80722	D|D	1|1	.|D	.|0.53462	.|0.96	.|P	.|0.53185	.|0.72	T|T	0.82242|0.82242	-0.0554|-0.0554	5|10	.|0.56958	.|D	.|0.05	-36.2293|-36.2293	10.6878|10.6878	0.45854|0.45854	0.0:0.0:0.4045:0.5955|0.0:0.0:0.4045:0.5955	.|.	.|177	.|Q13795	.|ARFRP_HUMAN	V|C	104|177	.|ENSP00000352746:R177C;ENSP00000326884:R177C	.|ENSP00000326884:R177C	A|R	-|-	2|1	0|0	ARFRP1|ARFRP1	61802316|61802316	1.000000|1.000000	0.71417|0.71417	0.696000|0.696000	0.30242|0.30242	0.798000|0.798000	0.45092|0.45092	3.959000|3.959000	0.56744|0.56744	1.144000|1.144000	0.42321|0.42321	0.462000|0.462000	0.41574|0.41574	GCG|CGC		0.697	ARFRP1-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472024.1			12	184	0	0	0	1	0	12	184				
MMEL1	79258	broad.mit.edu	37	1	2540796	2540796	+	Missense_Mutation	SNP	G	G	A	rs376308719		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:2540796G>A	ENST00000378412.3	-	6	678	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Missense_Mutation_p.R164C			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	173						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ATGCAGGAGCGGTACAGCGTC	0.687																																						ENST00000288709.6																			0				cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27						c.(490-492)Cgc>Tgc		membrane metallo-endopeptidase-like 1							35.0	26.0	29.0					1																	2540796		2203	4299	6502	SO:0001583	missense	79258				proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity	g.chr1:2540796G>A	AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.517C>T	1.37:g.2540796G>A	ENSP00000367668:p.Arg173Cys					MMEL1_ENST00000378412.3_Missense_Mutation_p.R173C|MMEL1_ENST00000502556.1_Intron	p.R164C	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)	6	730	-	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)	173					B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	ENST00000378412.3	37	c.490C>T	CCDS30569.2	.	.	.	.	.	.	.	.	.	.	g	21.8	4.197527	0.79015	.	.	ENSG00000142606	ENST00000288709;ENST00000378412	T;T	0.75821	-0.97;-0.97	5.56	4.58	0.56647	Peptidase M13 (1);	0.277558	0.44688	D	0.000433	D	0.83413	0.5249	M	0.75615	2.305	0.41599	D	0.988846	D	0.89917	1.0	D	0.71414	0.973	D	0.84738	0.0749	10	0.72032	D	0.01	-25.7391	10.3483	0.43920	0.0:0.0:0.7065:0.2935	.	173	Q495T6	MMEL1_HUMAN	C	164;173	ENSP00000288709:R164C;ENSP00000367668:R173C	ENSP00000288709:R164C	R	-	1	0	MMEL1	2530656	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.506000	0.45433	2.607000	0.88179	0.549000	0.68633	CGC		0.687	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002395.2	NM_033467		9	12	0	0	0	1	0	9	12				
POU2F1	5451	broad.mit.edu	37	1	167381351	167381351	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:167381351A>C	ENST00000541643.3	+	15	1804	c.1642A>C	c.(1642-1644)Acc>Ccc	p.T548P	POU2F1_ENST00000367866.2_Missense_Mutation_p.T571P|POU2F1_ENST00000420254.3_Missense_Mutation_p.T548P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.T508P|POU2F1_ENST00000367862.5_Missense_Mutation_p.T560P			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	548					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						CACAACACAGACCACCTCCAC	0.602																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(1678-1680)Acc>Ccc		POU class 2 homeobox 1							122.0	84.0	97.0					1																	167381351		2203	4300	6503	SO:0001583	missense	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167381351A>C	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.1642A>C	1.37:g.167381351A>C	ENSP00000441285:p.Thr548Pro					POU2F1_ENST00000367866.2_Missense_Mutation_p.T571P|POU2F1_ENST00000541643.3_Missense_Mutation_p.T548P|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.T508P|POU2F1_ENST00000420254.3_Missense_Mutation_p.T548P	p.T560P	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			14	1913	+			548					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	Missense_Mutation	SNP	ENST00000541643.3	37	c.1678A>C		.	.	.	.	.	.	.	.	.	.	A	17.39	3.377212	0.61735	.	.	ENSG00000143190	ENST00000367866;ENST00000429375;ENST00000367865;ENST00000420254;ENST00000541643;ENST00000367862;ENST00000443275	D;D;T;T;T;T;T	0.86865	-2.18;-2.15;0.95;0.95;0.95;0.95;0.95	5.5	5.5	0.81552	.	3.036520	0.00998	N	0.003627	D	0.86997	0.6068	N	0.19112	0.55	0.38662	D	0.952095	B;D;B;P;B	0.62365	0.057;0.991;0.095;0.527;0.057	B;D;B;B;B	0.65323	0.086;0.934;0.178;0.178;0.086	T	0.75651	-0.3244	9	0.72032	D	0.01	.	15.9047	0.79419	1.0:0.0:0.0:0.0	.	508;548;560;546;548	B4E029;P14859-4;P14859-2;P14859-3;P14859	.;.;.;.;PO2F1_HUMAN	P	571;508;546;548;548;560;456	ENSP00000356840:T571P;ENSP00000401217:T508P;ENSP00000356839:T546P;ENSP00000414660:T548P;ENSP00000441285:T548P;ENSP00000356836:T560P;ENSP00000415993:T456P	ENSP00000356836:T560P	T	+	1	0	POU2F1	165647975	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.181000	0.71988	2.206000	0.71126	0.528000	0.53228	ACC		0.602	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		16	59	0	0	0	1	0	16	59				
MTIF3	219402	broad.mit.edu	37	13	28009312	28009312	+	IGR	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:28009312A>T	ENST00000381116.1	-	0	1104				GTF3A_ENST00000470606.1_3'UTR|GTF3A_ENST00000381140.4_Nonsense_Mutation_p.K306*|MTIF3_ENST00000461838.1_5'Flank			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3						formation of translation initiation complex (GO:0001732)|regulation of translational initiation (GO:0006446)|ribosome disassembly (GO:0032790)	mitochondrion (GO:0005739)	ribosomal small subunit binding (GO:0043024)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		TCCTGACAAGAAGAAAATGAA	0.338																																						ENST00000381140.4																			0				breast(1)|lung(1)	2						c.(916-918)Aag>Tag		general transcription factor IIIA							126.0	112.0	116.0					13																	28009312		1568	3582	5150	SO:0001628	intergenic_variant	2971				regulation of transcription, DNA-dependent|rRNA transcription|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr13:28009312A>T	BC046166	CCDS9322.1	13q12.2	2007-05-03			ENSG00000122033	ENSG00000122033			29788	protein-coding gene	gene with protein product						12095986	Standard	NM_152912		Approved	IF-3mt, IF3(mt)	uc001uri.3	Q9H2K0	OTTHUMG00000016633		13.37:g.28009312A>T						GTF3A_ENST00000470606.1_3'UTR	p.K306*	NM_002097.2	NP_002088.2	Q92664	TF3A_HUMAN	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)	8	1110	+		Lung SC(185;0.0156)	306					Q05BL8|Q5W0V0|Q86X68	Nonsense_Mutation	SNP	ENST00000381116.1	37	c.916A>T	CCDS9322.1	.	.	.	.	.	.	.	.	.	.	A	37	6.376884	0.97515	.	.	ENSG00000122034	ENST00000381140;ENST00000439403	.	.	.	4.94	4.94	0.65067	.	0.172827	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1.000000	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-10.5848	14.8857	0.70567	1.0:0.0:0.0:0.0	.	.	.	.	X	306;119	.	ENSP00000370532:K306X	K	+	1	0	GTF3A	26907312	1.000000	0.71417	1.000000	0.80357	0.665000	0.39181	4.558000	0.60789	1.994000	0.58287	0.528000	0.53228	AAG		0.338	MTIF3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044300.1	NM_152912		29	23	0	0	0	1	0	29	23				
CD80	941	broad.mit.edu	37	3	119276562	119276562	+	Missense_Mutation	SNP	C	C	T	rs267599556		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:119276562C>T	ENST00000264246.3	-	2	376	c.14G>A	c.(13-15)cGg>cAg	p.R5Q	CD80_ENST00000478182.1_Missense_Mutation_p.R5Q|CD80_ENST00000383669.3_Missense_Mutation_p.R5Q|CD80_ENST00000383668.3_Missense_Mutation_p.R5Q	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN	CD80 molecule	5					cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of signal transduction (GO:0009967)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12					Abatacept(DB01281)|Belatacept(DB06681)	TCCCTGCCTCCGTGTGTGGCC	0.498													C|||	1	0.000199681	0.0	0.0	5008	,	,		20614	0.0		0.0	False		,,,				2504	0.001				Melanoma(132;135 1764 1806 5833 14593)	ENST00000264246.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	12						c.(13-15)cGg>cAg		CD80 molecule	Abatacept(DB01281)						159.0	131.0	140.0					3																	119276562		2203	4300	6503	SO:0001583	missense	941				interspecies interaction between organisms|intracellular signal transduction|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of signal transduction|positive regulation of T-helper 1 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation	intracellular	coreceptor activity|protein binding	g.chr3:119276562C>T		CCDS2989.1	3q13.3-q21	2013-01-11	2006-03-31		ENSG00000121594	ENSG00000121594		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1700	protein-coding gene	gene with protein product	"""B-lymphocyte activation antigen B7"""	112203	"""CD80 antigen (CD28 antigen ligand 1, B7-1 antigen)"", ""CD80 molecule """	CD28LG, CD28LG1		1370389	Standard	NM_005191		Approved	B7.1, B7-1	uc003ecq.3	P33681	OTTHUMG00000159419	ENST00000264246.3:c.14G>A	3.37:g.119276562C>T	ENSP00000264246:p.Arg5Gln					CD80_ENST00000383668.3_Missense_Mutation_p.R5Q|CD80_ENST00000478182.1_Missense_Mutation_p.R5Q|CD80_ENST00000383669.3_Missense_Mutation_p.R5Q	p.R5Q	NM_005191.3	NP_005182.1	P33681	CD80_HUMAN			2	376	-			5					Q5DTA9|Q5DTB0	Missense_Mutation	SNP	ENST00000264246.3	37	c.14G>A	CCDS2989.1	.	.	.	.	.	.	.	.	.	.	C	8.306	0.820987	0.16678	.	.	ENSG00000121594	ENST00000264246;ENST00000478182;ENST00000383669;ENST00000383668	T;T;T;T	0.12361	4.98;4.98;4.87;2.69	3.76	-3.22	0.05125	.	3.725600	0.01299	N	0.010242	T	0.06962	0.0177	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.50943	0.94;0.718;0.837;0.837	B;B;B;B	0.34590	0.186;0.077;0.134;0.134	T	0.33420	-0.9869	10	0.25106	T	0.35	10.1551	4.868	0.13618	0.3106:0.3538:0.3356:0.0	.	5;5;5;5	Q5DTA9;Q5DTB0;A0N0P2;P33681	.;.;.;CD80_HUMAN	Q	5	ENSP00000264246:R5Q;ENSP00000418364:R5Q;ENSP00000373165:R5Q;ENSP00000373164:R5Q	ENSP00000264246:R5Q	R	-	2	0	CD80	120759252	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.298000	0.08265	-0.609000	0.05724	-1.058000	0.02302	CGG		0.498	CD80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355196.1	NM_005191		9	17	0	0	0	1	0	9	17				
DHRS7C	201140	broad.mit.edu	37	17	9676126	9676126	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:9676126C>T	ENST00000330255.5	-	5	700	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	DHRS7C_ENST00000571134.1_Missense_Mutation_p.V229M	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C	230					regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	extracellular region (GO:0005576)|longitudinal sarcoplasmic reticulum (GO:0014801)|sarcoplasmic reticulum membrane (GO:0033017)	retinol dehydrogenase activity (GO:0004745)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCTGGATACACGTGGTACGAC	0.582																																						ENST00000330255.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						c.(688-690)Gtg>Atg		dehydrogenase/reductase (SDR family) member 7C							72.0	80.0	77.0					17																	9676126		2183	4292	6475	SO:0001583	missense	201140					extracellular region	binding|oxidoreductase activity	g.chr17:9676126C>T		CCDS56020.1, CCDS58517.1	17p13.1	2011-09-20				ENSG00000184544		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	32423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 32C, member 2"""					19027726	Standard	NM_001105571		Approved	SDR32C2	uc010vvb.2	A6NNS2		ENST00000330255.5:c.688G>A	17.37:g.9676126C>T	ENSP00000327975:p.Val230Met					DHRS7C_ENST00000571134.1_Missense_Mutation_p.V229M	p.V230M	NM_001220493.1	NP_001207422.1	A6NNS2	DRS7C_HUMAN			5	700	-			230					B7ZW74|B9EJH3	Missense_Mutation	SNP	ENST00000330255.5	37	c.688G>A	CCDS56020.1	.	.	.	.	.	.	.	.	.	.	C	3.410	-0.120404	0.06838	.	.	ENSG00000184544	ENST00000330255	T	0.52295	0.67	4.92	-1.24	0.09435	NAD(P)-binding domain (1);	1.265410	0.05577	N	0.572175	T	0.30166	0.0756	N	0.22421	0.69	0.09310	N	1	B;B	0.15719	0.014;0.003	B;B	0.09377	0.004;0.004	T	0.24693	-1.0153	10	0.48119	T	0.1	.	3.4121	0.07363	0.1216:0.5217:0.1194:0.2373	.	230;226	A6NNS2;B9EJH3	DRS7C_HUMAN;.	M	230	ENSP00000327975:V230M	ENSP00000327975:V230M	V	-	1	0	DHRS7C	9616851	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.355000	0.07671	-0.020000	0.14032	0.655000	0.94253	GTG		0.582	DHRS7C-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439863.1	XM_113912		32	7	0	0	0	1	0	32	7				
KIAA0319	9856	broad.mit.edu	37	6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:24566850C>A	ENST00000378214.3	-	14	2791	c.2267G>T	c.(2266-2268)cGg>cTg	p.R756L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000535378.1_Missense_Mutation_p.R747L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(2239-2241)cGg>cTg		KIAA0319							99.0	96.0	97.0					6																	24566850		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24566850C>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.2267G>T	6.37:g.24566850C>A	ENSP00000367459:p.Arg756Leu					KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L	p.R747L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			15	2882	-			756			PKD 5.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.2240G>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.534720	0.85812	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.12147	2.71;2.71;2.71;2.71;2.71	4.01	4.01	0.46588	PKD/Chitinase domain (1);Fibronectin, type III (1);PKD domain (2);	0.000000	0.64402	D	0.000005	T	0.20495	0.0493	L	0.39514	1.22	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.03112	-1.1071	10	0.72032	D	0.01	-18.6805	16.3188	0.82938	0.0:1.0:0.0:0.0	.	756;747;756	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	L	756;747;711;756;756	ENSP00000439700:R756L;ENSP00000442403:R747L;ENSP00000401086:R711L;ENSP00000367459:R756L;ENSP00000437656:R756L	ENSP00000367459:R756L	R	-	2	0	KIAA0319	24674829	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.679000	0.61649	2.055000	0.61198	0.591000	0.81541	CGG		0.463	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		10	78	1	0	6.42651e-13	1	7.37859e-13	10	78				
MED4	29079	broad.mit.edu	37	13	48654103	48654103	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:48654103G>A	ENST00000258648.2	-	6	542	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000495013.1_5'UTR|MED4_ENST00000378586.1_Missense_Mutation_p.R127W	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	173					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TAGGGTCTCCGGGGGTCCCCT	0.393																																					Pancreas(38;399 1016 9170 13426 20145)	ENST00000258648.2																			0				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						c.(517-519)Cgg>Tgg		mediator complex subunit 4							68.0	67.0	68.0					13																	48654103		2203	4300	6503	SO:0001583	missense	29079				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chr13:48654103G>A	AF161475	CCDS9408.1, CCDS59241.1	13q14.12	2008-02-05	2007-07-30	2004-11-09	ENSG00000136146	ENSG00000136146			17903	protein-coding gene	gene with protein product		605718	"""vitamin D receptor interacting protein"", ""mediator of RNA polymerase II transcription, subunit 4 homolog (S. cerevisiae)"""	VDRIP		10235266, 11042152	Standard	NM_014166		Approved	HSPC126, DRIP36, TRAP36	uc001vby.2	Q9NPJ6	OTTHUMG00000016891	ENST00000258648.2:c.517C>T	13.37:g.48654103G>A	ENSP00000258648:p.Arg173Trp					MED4_ENST00000495013.1_5'UTR|MED4-AS1_ENST00000422483.1_RNA|MED4_ENST00000378586.1_Missense_Mutation_p.R127W	p.R173W	NM_014166.2	NP_054885.1	Q9NPJ6	MED4_HUMAN		GBM - Glioblastoma multiforme(144;5.18e-07)	6	542	-		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)	173					B4DX67|Q53GB4|Q53H68|Q5T912|Q6FHC4|Q6IA79|Q9BS95|Q9NYR5	Missense_Mutation	SNP	ENST00000258648.2	37	c.517C>T	CCDS9408.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277634	0.80692	.	.	ENSG00000136146	ENST00000258648;ENST00000378594;ENST00000378586;ENST00000417167	.	.	.	5.6	4.75	0.60458	.	0.000000	0.85682	D	0.000000	T	0.79924	0.4530	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.83221	-0.0068	9	0.72032	D	0.01	-18.3845	15.3003	0.73945	0.0:0.0:0.8588:0.1412	.	151;173	E9PDW1;Q9NPJ6	.;MED4_HUMAN	W	173;151;127;151	.	ENSP00000258648:R173W	R	-	1	2	MED4	47552104	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.488000	0.66869	1.487000	0.48415	0.563000	0.77884	CGG		0.393	MED4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000044863.1	NM_014166		14	28	0	0	0	1	0	14	28				
SYNE1	23345	broad.mit.edu	37	6	152554983	152554983	+	Missense_Mutation	SNP	G	G	A	rs373012438		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:152554983G>A	ENST00000367255.5	-	112	21246	c.20645C>T	c.(20644-20646)tCg>tTg	p.S6882L	SYNE1_ENST00000448038.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6882L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1406L|SYNE1_ENST00000341594.5_Missense_Mutation_p.S6494L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6882					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ATCAATGCGCGACAGCTCAGA	0.512										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(20644-20646)tCg>tTg		spectrin repeat containing, nuclear envelope 1		G	LEU/SER,LEU/SER	0,4406		0,0,2203	88.0	78.0	81.0		20645,20432	5.1	0.9	6		81	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SYNE1	NM_182961.3,NM_033071.3	145,145	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	6882/8798,6811/8750	152554983	1,13005	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152554983G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.20645C>T	6.37:g.152554983G>A	ENSP00000356224:p.Ser6882Leu	HNSCC(10;0.0054)				SYNE1_ENST00000341594.5_Missense_Mutation_p.S6494L|SYNE1_ENST00000265368.4_Missense_Mutation_p.S6882L|SYNE1_ENST00000448038.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000423061.1_Missense_Mutation_p.S6811L|SYNE1_ENST00000356820.4_Missense_Mutation_p.S1406L	p.S6882L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	112	21246	-		Ovarian(120;0.0955)	6882					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.20645C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	16.73	3.203374	0.58234	0.0	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.53206	0.68;0.68;0.68;0.68;0.68;0.63	5.93	5.06	0.68205	.	0.111909	0.40385	N	0.001118	T	0.26810	0.0656	L	0.54323	1.7	0.35341	D	0.786517	B;B;P	0.39044	0.303;0.303;0.656	B;B;B	0.30401	0.054;0.054;0.115	T	0.13926	-1.0491	10	0.31617	T	0.26	.	17.3279	0.87255	0.0:0.1249:0.8751:0.0	.	6882;6882;6811	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	L	6882;6811;6882;6811;6494;1406	ENSP00000356224:S6882L;ENSP00000396024:S6811L;ENSP00000265368:S6882L;ENSP00000390975:S6811L;ENSP00000341887:S6494L;ENSP00000349276:S1406L	ENSP00000265368:S6882L	S	-	2	0	SYNE1	152596676	1.000000	0.71417	0.891000	0.34965	0.663000	0.39108	4.501000	0.60393	1.498000	0.48600	0.655000	0.94253	TCG		0.512	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		24	38	0	0	0	1	0	24	38				
DHX58	79132	broad.mit.edu	37	17	40253875	40253875	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:40253875G>C	ENST00000251642.3	-	14	2163	c.1941C>G	c.(1939-1941)atC>atG	p.I647M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	647	RNA-binding.|Repressor domain.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of innate immune response (GO:0045824)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of type I interferon production (GO:0032481)|regulation of innate immune response (GO:0045088)|response to virus (GO:0009615)|viral process (GO:0016032)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTTGGCCTGGATCCGCCCCT	0.592											OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000251642.3																			0				breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1939-1941)atC>atG		DEXH (Asp-Glu-X-His) box polypeptide 58							61.0	58.0	59.0					17																	40253875		2203	4300	6503	SO:0001583	missense	79132				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding	g.chr17:40253875G>C	BC014949	CCDS11416.1	17q21.2	2008-02-05			ENSG00000108771	ENSG00000108771			29517	protein-coding gene	gene with protein product	"""RNA helicase LGP2"""	608588				11735219	Standard	NM_024119		Approved	LGP2, D11LGP2	uc002hyw.3	Q96C10	OTTHUMG00000133493	ENST00000251642.3:c.1941C>G	17.37:g.40253875G>C	ENSP00000251642:p.Ile647Met		OREG0024418	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	892		p.I647M	NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	14	2163	-		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)	647			RNA-binding.		Q9HAM6	Missense_Mutation	SNP	ENST00000251642.3	37	c.1941C>G	CCDS11416.1	.	.	.	.	.	.	.	.	.	.	G	10.52	1.374392	0.24857	.	.	ENSG00000108771	ENST00000251642	T	0.41400	1.0	5.15	-4.26	0.03755	C-terminal domain of RIG-I (1);	1.501880	0.03897	N	0.279659	T	0.21590	0.0520	N	0.16368	0.405	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.13045	-1.0524	10	0.38643	T	0.18	.	0.579	0.00709	0.2195:0.2288:0.2895:0.2623	.	647	Q96C10	DHX58_HUMAN	M	647	ENSP00000251642:I647M	ENSP00000251642:I647M	I	-	3	3	DHX58	37507401	0.000000	0.05858	0.643000	0.29450	0.927000	0.56198	-0.703000	0.05063	-0.287000	0.09064	-1.288000	0.01363	ATC		0.592	DHX58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257396.1	NM_024119		11	60	0	0	0	1	0	11	60				
NEFH	4744	broad.mit.edu	37	22	29879422	29879422	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:29879422G>A	ENST00000310624.6	+	2	975	c.942G>A	c.(940-942)gcG>gcA	p.A314A		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	314	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TGCGCTCAGCGCAGGAGGAGA	0.612																																						ENST00000310624.6																			0				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						c.(940-942)gcG>gcA		neurofilament, heavy polypeptide							144.0	136.0	139.0					22																	29879422		2203	4300	6503	SO:0001819	synonymous_variant	4744				cell death|nervous system development	neurofilament		g.chr22:29879422G>A		CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.942G>A	22.37:g.29879422G>A							p.A314A	NM_021076.3	NP_066554.2	P12036	NFH_HUMAN			2	975	+			314			Coil 2B.|Rod.		B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Silent	SNP	ENST00000310624.6	37	c.942G>A	CCDS13858.1																																																																																				0.612	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076		49	152	0	0	0	1	0	49	152				
MSRB3	253827	broad.mit.edu	37	12	65857094	65857094	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:65857094G>A	ENST00000355192.3	+	6	697	c.571G>A	c.(571-573)Gag>Aag	p.E191K	MSRB3_ENST00000308259.5_Missense_Mutation_p.E184K|MSRB3_ENST00000535664.1_Missense_Mutation_p.E184K	NM_198080.3	NP_932346.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	191					protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		AGACAAAGCGGAGCTCTAGAG	0.448																																						ENST00000308259.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13						c.(550-552)Gag>Aag		methionine sulfoxide reductase B3							43.0	41.0	42.0					12																	65857094		2203	4300	6503	SO:0001583	missense	253827				protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding	g.chr12:65857094G>A	BX640871	CCDS8973.1, CCDS31853.1	12q14.3	2011-11-29			ENSG00000174099	ENSG00000174099			27375	protein-coding gene	gene with protein product		613719	"""deafness, autosomal recessive 74"""	DFNB74		21185009	Standard	NM_198080		Approved	FLJ36866, DKFZp686C1178	uc021qzy.1	Q8IXL7	OTTHUMG00000168866	ENST00000355192.3:c.571G>A	12.37:g.65857094G>A	ENSP00000347324:p.Glu191Lys					MSRB3_ENST00000535664.1_Missense_Mutation_p.E184K|MSRB3_ENST00000355192.3_Missense_Mutation_p.E191K	p.E184K	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)	7	824	+			191					B4DR19|B7ZAQ0|Q6UXS2	Missense_Mutation	SNP	ENST00000355192.3	37	c.550G>A	CCDS8973.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612727	0.46631	.	.	ENSG00000174099	ENST00000355192;ENST00000308259;ENST00000535664	T;T;T	0.66460	-0.21;-0.2;-0.2	5.76	4.85	0.62838	.	0.116251	0.56097	D	0.000023	T	0.63640	0.2528	M	0.63843	1.955	0.52501	D	0.999957	P;B	0.42456	0.78;0.288	B;B	0.38106	0.265;0.109	T	0.65191	-0.6228	9	.	.	.	-3.3711	15.2845	0.73816	0.0:0.1396:0.8604:0.0	.	191;184	Q8IXL7;Q8IXL7-2	MSRB3_HUMAN;.	K	191;184;184	ENSP00000347324:E191K;ENSP00000312274:E184K;ENSP00000441650:E184K	.	E	+	1	0	MSRB3	64143361	1.000000	0.71417	0.901000	0.35422	0.008000	0.06430	5.538000	0.67193	1.541000	0.49316	0.655000	0.94253	GAG		0.448	MSRB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401421.1	NM_198080		18	31	0	0	0	1	0	18	31				
CD248	57124	broad.mit.edu	37	11	66082813	66082813	+	Silent	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:66082813A>G	ENST00000311330.3	-	1	1702	c.1686T>C	c.(1684-1686)ggT>ggC	p.G562G	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	562	Pro-rich.				anatomical structure regression (GO:0060033)|cell migration (GO:0016477)|lymph node development (GO:0048535)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|extracellular matrix binding (GO:0050840)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						GTAGCTGGGCACCGAGGGTGG	0.622																																						ENST00000311330.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26						c.(1684-1686)ggT>ggC		CD248 molecule, endosialin	Cefalotin(DB00456)						95.0	104.0	101.0					11																	66082813		2200	4295	6495	SO:0001819	synonymous_variant	57124					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding	g.chr11:66082813A>G	AF279142	CCDS8134.1	11q13	2006-04-12	2006-03-28	2005-02-11	ENSG00000174807	ENSG00000174807		"""CD molecules"""	18219	protein-coding gene	gene with protein product	"""endosialin"", ""tumor endothelial marker 1"""	606064	"""CD164 sialomucin-like 1"", ""CD248 antigen, endosialin"""	CD164L1		10947988, 11084048	Standard	NM_020404		Approved	TEM1	uc001ohm.1	Q9HCU0	OTTHUMG00000167073	ENST00000311330.3:c.1686T>C	11.37:g.66082813A>G						RP11-867G23.13_ENST00000534065.1_RNA	p.G562G	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN			1	1702	-			562			Pro-rich.		Q2M2V5|Q3SX55|Q96KB6	Silent	SNP	ENST00000311330.3	37	c.1686T>C	CCDS8134.1																																																																																				0.622	CD248-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392922.2	NM_020404		47	54	0	0	0	1	0	47	54				
MAML1	9794	broad.mit.edu	37	5	179195869	179195869	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:179195869G>A	ENST00000292599.3	+	3	2013	c.1750G>A	c.(1750-1752)Gtc>Atc	p.V584I	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)			CCCTTCCAGTGTCCCTGTGCA	0.562																																						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.(1750-1752)Gtc>Atc		mastermind-like 1 (Drosophila)							144.0	164.0	157.0					5																	179195869		2203	4300	6503	SO:0001583	missense	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.chr5:179195869G>A	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.1750G>A	5.37:g.179195869G>A	ENSP00000292599:p.Val584Ile					MAML1_ENST00000503050.1_3'UTR	p.V584I	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	2013	+	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)	584						Missense_Mutation	SNP	ENST00000292599.3	37	c.1750G>A	CCDS34315.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.336286	0.24253	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.47869	0.83	4.59	3.65	0.41850	.	0.202766	0.33040	N	0.005350	T	0.34221	0.0890	L	0.60455	1.87	0.30695	N	0.750904	B;B	0.33637	0.42;0.081	B;B	0.25506	0.061;0.052	T	0.26292	-1.0107	10	0.23891	T	0.37	-20.122	5.3899	0.16237	0.178:0.1752:0.6467:0.0	.	621;584	Q59GH4;Q92585	.;MAML1_HUMAN	I	584;621	ENSP00000292599:V584I	ENSP00000292599:V584I	V	+	1	0	MAML1	179128475	0.968000	0.33430	0.389000	0.26208	0.818000	0.46254	1.321000	0.33678	2.095000	0.63458	0.462000	0.41574	GTC		0.562	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		67	149	0	0	0	1	0	67	149				
GIMAP4	55303	broad.mit.edu	37	7	150269569	150269569	+	Silent	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:150269569C>A	ENST00000255945.2	+	3	586	c.411C>A	c.(409-411)atC>atA	p.I137I	GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Silent_p.I151I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	137	AIG1-type G.					cytosol (GO:0005829)	GTP binding (GO:0005525)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAGAAGATCCTGAAAATGT	0.483																																						ENST00000255945.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14						c.(409-411)atC>atA		GTPase, IMAP family member 4							80.0	77.0	78.0					7																	150269569		2203	4300	6503	SO:0001819	synonymous_variant	55303						GTP binding	g.chr7:150269569C>A	AK001972	CCDS5904.1	7q36.1	2014-04-04			ENSG00000133574	ENSG00000133574		"""GTPases, IMAP"""	21872	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 1"""	608087				15474311, 18701445	Standard	NM_018326		Approved	HIMAP4, FLJ11110, IMAP4, IAN1	uc003whl.3	Q9NUV9	OTTHUMG00000157475	ENST00000255945.2:c.411C>A	7.37:g.150269569C>A						GIMAP4_ENST00000461940.1_Silent_p.I151I|GIMAP4_ENST00000494750.1_3'UTR	p.I137I	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	586	+			137						Silent	SNP	ENST00000255945.2	37	c.411C>A	CCDS5904.1																																																																																				0.483	GIMAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348927.1	NM_018326		17	44	1	0	1.15088e-07	1	1.27419e-07	17	44				
MAZ	4150	broad.mit.edu	37	16	29821543	29821543	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:29821543A>T	ENST00000322945.6	+	5	1590	c.1425A>T	c.(1423-1425)caA>caT	p.Q475H	PRRT2_ENST00000358758.7_5'Flank|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_Missense_Mutation_p.Q170H|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000566906.2_Missense_Mutation_p.T130S|MAZ_ENST00000563402.1_Missense_Mutation_p.T132S|PRRT2_ENST00000567659.1_5'Flank|AC009133.14_ENST00000569981.1_RNA|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000563806.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000568544.1_Missense_Mutation_p.Q76H|MAZ_ENST00000545521.1_Missense_Mutation_p.Q452H	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	475					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCCCTCCCAACCCTGGTGAG	0.637																																					Colon(72;875 1167 15364 30899 37091)	ENST00000322945.6																			0				endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(1423-1425)caA>caT		MYC-associated zinc finger protein (purine-binding transcription factor)							8.0	10.0	9.0					16																	29821543		1904	4107	6011	SO:0001583	missense	4150				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding	g.chr16:29821543A>T	M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1425A>T	16.37:g.29821543A>T	ENSP00000313362:p.Gln475His					MAZ_ENST00000566906.2_Missense_Mutation_p.T130S|MAZ_ENST00000545521.1_Missense_Mutation_p.Q452H|MAZ_ENST00000568544.1_Missense_Mutation_p.Q76H|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000563402.1_Missense_Mutation_p.T132S|AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000219782.6_3'UTR|MAZ_ENST00000562337.1_Missense_Mutation_p.Q170H	p.Q475H	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN			5	1590	+			475					A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	Missense_Mutation	SNP	ENST00000322945.6	37	c.1425A>T	CCDS42143.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.975946	0.34848	.	.	ENSG00000103495	ENST00000545521;ENST00000322945;ENST00000544343	T;T	0.12147	2.85;2.71	3.91	2.89	0.33648	.	.	.	.	.	T	0.16642	0.0400	N	0.14661	0.345	0.80722	D	1	D;D;D	0.64830	0.989;0.994;0.989	P;D;P	0.67900	0.801;0.954;0.801	T	0.04693	-1.0933	9	0.62326	D	0.03	.	7.5735	0.27922	0.1188:0.0:0.8812:0.0	.	452;250;475	C6G496;F5H7A6;P56270	.;.;MAZ_HUMAN	H	452;475;250	ENSP00000443956:Q452H;ENSP00000313362:Q475H	ENSP00000313362:Q475H	Q	+	3	2	MAZ	29729044	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.000000	0.40816	1.221000	0.43506	-0.345000	0.07892	CAA		0.637	MAZ-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000435536.1	NM_002383		15	6	0	0	0	1	0	15	6				
DGKB	1607	broad.mit.edu	37	7	14741318	14741318	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:14741318G>A	ENST00000403951.2	-	7	923	c.504C>T	c.(502-504)ttC>ttT	p.F168F	DGKB_ENST00000444700.2_Silent_p.F161F|DGKB_ENST00000406247.3_Silent_p.F168F|DGKB_ENST00000402815.1_Silent_p.F168F|DGKB_ENST00000258767.5_Silent_p.F168F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000399322.3_Silent_p.F168F|DGKB_ENST00000407950.1_Silent_p.F161F			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	168	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						AGCTGTCCAGGAAGCCATTCC	0.328																																						ENST00000403951.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(502-504)ttC>ttT		diacylglycerol kinase, beta 90kDa	Phosphatidylserine(DB00144)						82.0	80.0	80.0					7																	14741318		1830	4083	5913	SO:0001819	synonymous_variant	1607				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding	g.chr7:14741318G>A	AB018261	CCDS47547.1, CCDS47548.1	7p21.2	2013-01-10	2002-08-29		ENSG00000136267	ENSG00000136267	2.7.1.107	"""EF-hand domain containing"""	2850	protein-coding gene	gene with protein product		604070	"""diacylglycerol kinase, beta (90kD)"""	DAGK2		7689223	Standard	NM_004080		Approved	KIAA0718, DGK, DGK-BETA	uc003ssz.3	Q9Y6T7	OTTHUMG00000152477	ENST00000403951.2:c.504C>T	7.37:g.14741318G>A						DGKB_ENST00000407950.1_Silent_p.F161F|DGKB_ENST00000406247.3_Silent_p.F168F|DGKB_ENST00000402815.1_Silent_p.F168F|DGKB_ENST00000399322.3_Silent_p.F168F|DGKB_ENST00000258767.5_Silent_p.F168F|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000444700.2_Silent_p.F161F	p.F168F			Q9Y6T7	DGKB_HUMAN			7	923	-			168			EF-hand 1.		A4D116|A4D117|A8MXU2|O75241|Q2M377|Q75MF9|Q75MU7|Q86UI5|Q86UM9|Q9UQ29	Silent	SNP	ENST00000403951.2	37	c.504C>T	CCDS47547.1																																																																																				0.328	DGKB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000326356.2	NM_004080		8	25	0	0	0	1	0	8	25				
THAP9	79725	broad.mit.edu	37	4	83826061	83826061	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:83826061G>A	ENST00000302236.5	+	2	304	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	85					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AAAAGGAGCTGTGCCTTCTGT	0.363																																						ENST00000302236.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33						c.(253-255)Gtg>Atg		THAP domain containing 9							71.0	73.0	72.0					4																	83826061		2203	4300	6503	SO:0001583	missense	79725						DNA binding|metal ion binding	g.chr4:83826061G>A	AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.253G>A	4.37:g.83826061G>A	ENSP00000305533:p.Val85Met						p.V85M	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN			2	304	+		Hepatocellular(203;0.114)	85					B3KRE2|Q59AC9	Missense_Mutation	SNP	ENST00000302236.5	37	c.253G>A	CCDS3598.1	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509595	0.64522	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.97404	-4.37	3.71	3.71	0.42584	Zinc finger, C2CH-type (4);	0.773311	0.11094	N	0.600439	D	0.98435	0.9479	M	0.84683	2.71	0.28683	N	0.904988	D	0.76494	0.999	D	0.87578	0.998	D	0.94178	0.7429	9	.	.	.	-10.6819	13.3075	0.60362	0.0:0.0:1.0:0.0	.	85	Q9H5L6	THAP9_HUMAN	M	85	ENSP00000305533:V85M	.	V	+	1	0	THAP9	84045085	1.000000	0.71417	0.999000	0.59377	0.885000	0.51271	4.210000	0.58500	2.386000	0.81285	0.650000	0.86243	GTG		0.363	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252633.1	NM_024672		8	17	0	0	0	1	0	8	17				
MZF1	7593	broad.mit.edu	37	19	59074528	59074528	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:59074528C>T	ENST00000215057.2	-	6	1676	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000599369.1_Silent_p.L372L|MZF1_ENST00000594234.1_Silent_p.*291*|AC016629.8_ENST00000600726.1_RNA	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	372					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TCTGGTGCCTCAGCAGGTTGC	0.687																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1114-1116)ctG>ctA		myeloid zinc finger 1							27.0	24.0	25.0					19																	59074528		2195	4296	6491	SO:0001819	synonymous_variant	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59074528C>T	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1116G>A	19.37:g.59074528C>T						MZF1_ENST00000599369.1_Silent_p.L372L|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_Silent_p.*291*|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA	p.L372L	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	1676	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	372					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Silent	SNP	ENST00000215057.2	37	c.1116G>A	CCDS12988.1																																																																																				0.687	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		22	43	0	0	0	1	0	22	43				
ERBB2	2064	broad.mit.edu	37	17	37881332	37881332	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:37881332G>A	ENST00000269571.5	+	21	2683	c.2524G>A	c.(2524-2526)Gta>Ata	p.V842I	ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I|ERBB2_ENST00000406381.2_Missense_Mutation_p.V812I|MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	842	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.V842I(6)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	TGTGCGGCTCGTACACAGGGA	0.597		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												ENST00000406381.2		1		Dom	yes		17	17q21.1	2064	"""A, Mis, O"""	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""			E			"""breast, ovarian, other tumour types, NSCLC, gastric"""		6	Substitution - Missense(6)	p.V842I(6)	large_intestine(5)|stomach(1)	NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247						c.(2434-2436)Gta>Ata		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)						70.0	61.0	64.0					17																	37881332		2203	4300	6503	SO:0001583	missense	2064				cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr17:37881332G>A	X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2524G>A	17.37:g.37881332G>A	ENSP00000269571:p.Val842Ile	TCGA GBM(5;<1E-08)				ERBB2_ENST00000584450.1_Missense_Mutation_p.V842I|ERBB2_ENST00000445658.2_Missense_Mutation_p.V566I|ERBB2_ENST00000584601.1_Missense_Mutation_p.V812I|ERBB2_ENST00000269571.5_Missense_Mutation_p.V842I|ERBB2_ENST00000541774.1_Missense_Mutation_p.V827I|ERBB2_ENST00000540147.1_Missense_Mutation_p.V812I	p.V812I	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	23	2944	+	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	842			Protein kinase.		B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	ENST00000269571.5	37	c.2434G>A	CCDS32642.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241303	0.58995	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.09	5.09	0.68999	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.85106	0.5621	N	0.21142	0.635	0.80722	D	1	D;D;D	0.76494	0.997;0.979;0.999	D;P;D	0.64506	0.92;0.559;0.926	D	0.87344	0.2333	9	0.87932	D	0	.	18.2846	0.90110	0.0:0.0:1.0:0.0	.	566;827;842	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	I	812;827;566;842;812	ENSP00000385185:V812I;ENSP00000446466:V827I;ENSP00000404047:V566I;ENSP00000269571:V842I;ENSP00000443562:V812I	ENSP00000269571:V842I	V	+	1	0	ERBB2	35134858	1.000000	0.71417	0.919000	0.36401	0.900000	0.52787	9.657000	0.98554	2.651000	0.90000	0.563000	0.77884	GTA		0.597	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445621.2			43	57	0	0	0	1	0	43	57				
RTCB	51493	broad.mit.edu	37	22	32784075	32784075	+	Silent	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:32784075G>T	ENST00000216038.5	-	12	1520	c.1422C>A	c.(1420-1422)tcC>tcA	p.S474S	RTCB_ENST00000451746.2_3'UTR|RP1-149A16.17_ENST00000444848.1_lincRNA	NM_014306.4	NP_055121.1			RNA 2',3'-cyclic phosphate and 5'-OH ligase																		CATTCTTATAGGACTCAGGAG	0.403																																						ENST00000216038.5																			0											c.(1420-1422)tcC>tcA		RNA 2',3'-cyclic phosphate and 5'-OH ligase							103.0	89.0	94.0					22																	32784075		2203	4300	6503	SO:0001819	synonymous_variant	51493							g.chr22:32784075G>T	BC016707	CCDS13905.1	22q12.3	2013-05-22	2013-05-22	2013-05-22	ENSG00000100220	ENSG00000100220	6.5.1.3		26935	protein-coding gene	gene with protein product	"""focal adhesion-associated protein"""	613901	"""chromosome 22 open reading frame 28"""	C22orf28		11042152, 21209330, 21311021	Standard	NM_014306		Approved	HSPC117, FAAP		Q9Y3I0	OTTHUMG00000030300	ENST00000216038.5:c.1422C>A	22.37:g.32784075G>T						RTCB_ENST00000451746.2_3'UTR	p.S474S	NM_014306.4	NP_055121.1					12	1520	-									Silent	SNP	ENST00000216038.5	37	c.1422C>A	CCDS13905.1																																																																																				0.403	RTCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075188.3	NM_014306		3	18	1	0	0.00024832	1	0.000265446	3	18				
MAP3K4	4216	broad.mit.edu	37	6	161530808	161530808	+	Nonsense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:161530808G>T	ENST00000392142.4	+	23	4406	c.4258G>T	c.(4258-4260)Gag>Tag	p.E1420*	MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E1366*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E1370*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E1416*	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1420	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|chorionic trophoblast cell differentiation (GO:0060718)|intracellular signal transduction (GO:0035556)|male germ-line sex determination (GO:0019100)|MAPK cascade (GO:0000165)|placenta development (GO:0001890)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of gene expression (GO:0010468)|response to UV-C (GO:0010225)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CATCTTCATGGAGTACTGCGA	0.443																																						ENST00000392142.4																			0				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77						c.(4258-4260)Gag>Tag		mitogen-activated protein kinase kinase kinase 4							125.0	115.0	119.0					6																	161530808		2203	4300	6503	SO:0001587	stop_gained	4216				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	g.chr6:161530808G>T	AF002715	CCDS34565.1, CCDS34566.1, CCDS75544.1	6q26	2012-10-02			ENSG00000085511	ENSG00000085511		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6856	protein-coding gene	gene with protein product		602425		MEKK4		9305639	Standard	XM_005266988		Approved	MTK1, MAPKKK4, KIAA0213	uc003qtn.3	Q9Y6R4	OTTHUMG00000015968	ENST00000392142.4:c.4258G>T	6.37:g.161530808G>T	ENSP00000375986:p.Glu1420*					MAP3K4_ENST00000348824.7_Nonsense_Mutation_p.E1366*|MAP3K4_ENST00000366919.2_Nonsense_Mutation_p.E1370*|MAP3K4_ENST00000366920.2_Nonsense_Mutation_p.E1416*	p.E1420*	NM_005922.2	NP_005913.2	Q9Y6R4	M3K4_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)	23	4406	+		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)	1420			Protein kinase.		A6H8W0|B7ZLD3|B9EG75|Q5VTT8|Q5VTT9|Q92612|Q9H408	Nonsense_Mutation	SNP	ENST00000392142.4	37	c.4258G>T	CCDS34565.1	.	.	.	.	.	.	.	.	.	.	G	45	11.345923	0.99549	.	.	ENSG00000085511	ENST00000366919;ENST00000392142;ENST00000540111;ENST00000366920;ENST00000348824	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-32.9205	17.0102	0.86404	0.0:0.0:1.0:0.0	.	.	.	.	X	1370;1420;1370;1416;1366	.	ENSP00000297332:E1366X	E	+	1	0	MAP3K4	161450798	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	9.787000	0.99055	2.447000	0.82792	0.563000	0.77884	GAG		0.443	MAP3K4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042988.3			35	33	1	0	9.04072e-19	1	1.05098e-18	35	33				
CCL1	6346	broad.mit.edu	37	17	32687649	32687649	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:32687649C>T	ENST00000225842.3	-	3	289	c.220G>A	c.(220-222)Gcc>Acc	p.A74T		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	74					cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|immune response (GO:0006955)|signal transduction (GO:0007165)|viral process (GO:0016032)	extracellular space (GO:0005615)	chemokine activity (GO:0008009)						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		GTGTCCAAGGCGCAGGCCTCT	0.522																																						ENST00000225842.3																			0											c.(220-222)Gcc>Acc		chemokine (C-C motif) ligand 1							115.0	109.0	111.0					17																	32687649		2203	4300	6503	SO:0001583	missense	6346				cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity	g.chr17:32687649C>T	M57506	CCDS11282.1	17q11.2	2013-02-25	2002-08-22	2002-08-23	ENSG00000108702	ENSG00000108702		"""Endogenous ligands"""	10609	protein-coding gene	gene with protein product	"""inflammatory cytokine I-309"", ""T lymphocyte-secreted protein I-309"""	182281	"""small inducible cytokine A1 (I-309, homologous to mouse Tca-3)"""	SCYA1		2212659, 10409433	Standard	NM_002981		Approved	I-309, TCA3, P500, SISe	uc002hid.1	P22362	OTTHUMG00000132888	ENST00000225842.3:c.220G>A	17.37:g.32687649C>T	ENSP00000225842:p.Ala74Thr						p.A74T	NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)	3	289	-		Ovarian(249;0.0443)|Breast(31;0.133)	74					B2R5G9|Q2M309	Missense_Mutation	SNP	ENST00000225842.3	37	c.220G>A	CCDS11282.1	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444285	0.63178	.	.	ENSG00000108702	ENST00000225842	T	0.07327	3.2	4.38	4.38	0.52667	CC chemokine, conserved site (1);Chemokine interleukin-8-like domain (3);	0.594257	0.15696	N	0.249176	T	0.22166	0.0534	.	.	.	0.19575	N	0.999966	D	0.76494	0.999	D	0.65773	0.938	T	0.01899	-1.1251	9	0.41790	T	0.15	-6.7211	12.7477	0.57289	0.0:1.0:0.0:0.0	.	74	P22362	CCL1_HUMAN	T	74	ENSP00000225842:A74T	ENSP00000225842:A74T	A	-	1	0	CCL1	29711762	0.618000	0.27051	0.233000	0.24025	0.003000	0.03518	2.932000	0.48940	2.719000	0.93026	0.555000	0.69702	GCC		0.522	CCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256385.2	NM_002981		56	89	0	0	0	1	0	56	89				
GAB4	128954	broad.mit.edu	37	22	17488843	17488843	+	Silent	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:17488843C>T	ENST00000400588.1	-	1	269	c.162G>A	c.(160-162)aaG>aaA	p.K54K	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	54	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				AGAGCCTCAGCTTCTTCTCGG	0.697																																						ENST00000400588.1																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44						c.(160-162)aaG>aaA		GRB2-associated binding protein family, member 4							16.0	21.0	20.0					22																	17488843		2096	4231	6327	SO:0001819	synonymous_variant	128954							g.chr22:17488843C>T	AK057252	CCDS42976.1	22q11.2	2013-01-10			ENSG00000215568	ENSG00000215568		"""Pleckstrin homology (PH) domain containing"""	18325	protein-coding gene	gene with protein product							Standard	NM_001037814		Approved		uc002zlw.3	Q2WGN9	OTTHUMG00000149992	ENST00000400588.1:c.162G>A	22.37:g.17488843C>T						GAB4_ENST00000523144.1_5'UTR	p.K54K	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN			1	269	-		all_epithelial(15;0.112)|Lung NSC(13;0.248)	54			PH.			Silent	SNP	ENST00000400588.1	37	c.162G>A	CCDS42976.1																																																																																				0.697	GAB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315426.1	XM_372882		8	13	0	0	0	1	0	8	13				
FBXW7	55294	broad.mit.edu	37	4	153251907	153251907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr4:153251907G>A	ENST00000281708.4	-	7	2328	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	367					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTTCTCCTCGCCTCCAGTTA	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		17	Substitution - Nonsense(16)|Unknown(1)	p.R367*(10)|p.R287*(3)|p.R128*(3)|p.?(1)	large_intestine(10)|upper_aerodigestive_tract(4)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|endometrium(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1099-1101)Cga>Tga		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							335.0	288.0	304.0					4																	153251907		2203	4300	6503	SO:0001587	stop_gained	0				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153251907G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1099C>T	4.37:g.153251907G>A	ENSP00000281708:p.Arg367*					FBXW7_ENST00000263981.5_Nonsense_Mutation_p.R287*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.R367*|FBXW7_ENST00000393956.3_Nonsense_Mutation_p.R191*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.R249*	p.R367*	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			7	2328	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	367					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Nonsense_Mutation	SNP	ENST00000281708.4	37	c.1099C>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	37	6.344024	0.97489	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	.	.	.	6.07	5.22	0.72569	.	0.052867	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-12.733	16.6928	0.85326	0.0:0.0:0.8693:0.1307	.	.	.	.	X	367;249;287;191	.	ENSP00000263981:R287X	R	-	1	2	FBXW7	153471357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.642000	0.46596	1.556000	0.49512	0.650000	0.86243	CGA		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			17	33	0	0	0	1	0	17	33				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	p.R175H	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)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		38	7	0	0	0	1	0	38	7				
SYMPK	8189	broad.mit.edu	37	19	46329516	46329516	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:46329516G>A	ENST00000245934.7	-	17	2541	c.2297C>T	c.(2296-2298)cCg>cTg	p.P766L	SYMPK_ENST00000598155.1_5'Flank	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	766					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGCACAGACGGTGGGTTGGG	0.572																																						ENST00000245934.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45						c.(2296-2298)cCg>cTg		symplekin							113.0	83.0	93.0					19																	46329516		2203	4300	6503	SO:0001583	missense	8189				cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding	g.chr19:46329516G>A	U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.2297C>T	19.37:g.46329516G>A	ENSP00000245934:p.Pro766Leu						p.P766L	NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)	17	2541	-		all_neural(266;0.0299)|Ovarian(192;0.0308)	766					O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	ENST00000245934.7	37	c.2297C>T	CCDS12676.2	.	.	.	.	.	.	.	.	.	.	G	15.96	2.986419	0.53934	.	.	ENSG00000125755	ENST00000245934	T	0.30448	1.53	4.17	4.17	0.49024	Armadillo-like helical (1);Armadillo-type fold (1);	0.117435	0.64402	D	0.000017	T	0.52191	0.1719	M	0.83223	2.63	0.80722	D	1	D;P	0.76494	0.999;0.494	P;B	0.57101	0.813;0.098	T	0.61978	-0.6951	10	0.87932	D	0	.	14.4226	0.67193	0.0:0.0:1.0:0.0	.	781;766	Q4LE61;Q92797	.;SYMPK_HUMAN	L	766	ENSP00000245934:P766L	ENSP00000245934:P766L	P	-	2	0	SYMPK	51021356	1.000000	0.71417	0.538000	0.28064	0.728000	0.41692	8.940000	0.92958	2.339000	0.79563	0.555000	0.69702	CCG		0.572	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316581.1	NM_004819		6	17	0	0	0	1	0	6	17				
LMO3	55885	broad.mit.edu	37	12	16704161	16704161	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:16704161G>A	ENST00000320122.6	-	4	955	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	LMO3_ENST00000261169.6_Missense_Mutation_p.R156C|LMO3_ENST00000541846.1_Missense_Mutation_p.R145C|LMO3_ENST00000540445.1_Missense_Mutation_p.R167C|LMO3_ENST00000441439.2_Missense_Mutation_p.R145C|LMO3_ENST00000354662.1_Missense_Mutation_p.R145C|LMO3_ENST00000534946.1_Missense_Mutation_p.R145C|LMO3_ENST00000541295.1_Missense_Mutation_p.R163C|LMO3_ENST00000537304.1_Missense_Mutation_p.R145C|LMO3_ENST00000535535.1_Missense_Mutation_p.R145C|LMO3_ENST00000447609.1_Missense_Mutation_p.R145C|LMO3_ENST00000540848.1_Missense_Mutation_p.R145C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				ATAGATCAGCGAACCTGGGGT	0.378																																						ENST00000320122.6																			0				endometrium(2)|large_intestine(2)|skin(1)	5						c.(433-435)Cgc>Tgc		LIM domain only 3 (rhombotin-like 2)							183.0	168.0	173.0					12																	16704161		2203	4300	6503	SO:0001583	missense	55885				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16704161G>A	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.433C>T	12.37:g.16704161G>A	ENSP00000312856:p.Arg145Cys					LMO3_ENST00000537304.1_Missense_Mutation_p.R145C|LMO3_ENST00000541846.1_Missense_Mutation_p.R145C|LMO3_ENST00000447609.1_Missense_Mutation_p.R145C|LMO3_ENST00000541295.1_Missense_Mutation_p.R163C|LMO3_ENST00000441439.2_Missense_Mutation_p.R145C|LMO3_ENST00000354662.1_Missense_Mutation_p.R145C|LMO3_ENST00000540848.1_Missense_Mutation_p.R145C|LMO3_ENST00000534946.1_Missense_Mutation_p.R145C|LMO3_ENST00000535535.1_Missense_Mutation_p.R145C|LMO3_ENST00000261169.6_Missense_Mutation_p.R156C|LMO3_ENST00000540445.1_Missense_Mutation_p.R167C	p.R145C	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN			4	955	-		Hepatocellular(102;0.244)	145					B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	c.433C>T	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.873372	0.72180	.	.	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846	T;T;T;T;T;T;T;T;T;T;T;T	0.35973	1.4;1.4;1.4;1.4;1.28;1.4;1.4;1.4;1.45;1.4;1.66;1.4	5.42	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.41305	0.1153	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.992;0.997	P;P;P;P	0.59288	0.855;0.724;0.53;0.65	T	0.40175	-0.9577	10	0.87932	D	0	.	14.5451	0.68024	0.072:0.0:0.928:0.0	.	167;163;145;156	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	C	145;145;145;145;156;125;145;145;145;163;145;167;145	ENSP00000346689:R145C;ENSP00000412479:R145C;ENSP00000413703:R145C;ENSP00000312856:R145C;ENSP00000261169:R156C;ENSP00000445751:R145C;ENSP00000446115:R145C;ENSP00000440099:R145C;ENSP00000446463:R163C;ENSP00000439275:R145C;ENSP00000442786:R167C;ENSP00000444393:R145C	ENSP00000261169:R156C	R	-	1	0	LMO3	16595428	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.285000	0.78660	2.521000	0.84997	0.563000	0.77884	CGC		0.378	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640		28	12	0	0	0	1	0	28	12				
GRM7	2917	broad.mit.edu	37	3	7188289	7188289	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:7188289C>A	ENST00000357716.4	+	2	944	c.670C>A	c.(670-672)Ctc>Atc	p.L224I	GRM7_ENST00000486284.1_Missense_Mutation_p.L224I|GRM7_ENST00000389336.4_Missense_Mutation_p.L224I|GRM7_ENST00000403881.1_Missense_Mutation_p.L224I|GRM7_ENST00000402647.2_Missense_Mutation_p.L224I	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	224					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TGTGTCTACCCTCGCATCGGA	0.522																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(670-672)Ctc>Atc		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						104.0	99.0	101.0					3																	7188289		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7188289C>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.670C>A	3.37:g.7188289C>A	ENSP00000350348:p.Leu224Ile					GRM7_ENST00000389336.4_Missense_Mutation_p.L224I|GRM7_ENST00000402647.2_Missense_Mutation_p.L224I|GRM7_ENST00000357716.4_Missense_Mutation_p.L224I|GRM7_ENST00000403881.1_Missense_Mutation_p.L224I	p.L224I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			2	944	+			224					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.670C>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	C	6.159	0.397495	0.11638	.	.	ENSG00000196277	ENST00000448328;ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	D;D;D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93;-1.93;-1.93	5.87	4.95	0.65309	Extracellular ligand-binding receptor (1);	0.247697	0.35235	N	0.003354	T	0.71333	0.3327	N	0.25957	0.775	0.24601	N	0.99378	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.20577	0.004;0.002;0.03	T	0.51787	-0.8661	10	0.12430	T	0.62	.	5.3041	0.15793	0.1768:0.676:0.0:0.1471	.	224;224;224	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	I	16;224;224;224;224;224;224;224	ENSP00000393799:L16I;ENSP00000350348:L224I;ENSP00000417536:L224I;ENSP00000373987:L224I;ENSP00000385664:L224I;ENSP00000384585:L224I	ENSP00000350348:L224I	L	+	1	0	GRM7	7163289	0.196000	0.23350	0.394000	0.26270	0.314000	0.28054	0.649000	0.24843	2.941000	0.99782	0.655000	0.94253	CTC		0.522	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		8	48	1	0	0.00621372	1	0.00649298	8	48				
ABCA4	24	broad.mit.edu	37	1	94528265	94528265	+	Missense_Mutation	SNP	C	C	T	rs61749410		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:94528265C>T	ENST00000370225.3	-	13	1891	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	ABCA4_ENST00000535735.1_Missense_Mutation_p.R602Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	602			R -> Q (in STGD1). {ECO:0000269|PubMed:11527935}.|R -> W (in STGD1). {ECO:0000269|PubMed:18977788}.		phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCAGATGTACCGGAAATCTTC	0.557																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147	GRCh37	CM014292	ABCA4	M	rs61749410	c.(1804-1806)cGg>cAg		ATP-binding cassette, sub-family A (ABC1), member 4		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	63.0	62.0	62.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1805	4.0	1.0	1	dbSNP_129	62	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA4	NM_000350.2	43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	602/2274	94528265	2,13004	2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94528265C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.1805G>A	1.37:g.94528265C>T	ENSP00000359245:p.Arg602Gln					ABCA4_ENST00000535735.1_Missense_Mutation_p.R602Q	p.R602Q	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	13	1891	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	602		R -> Q (in STGD1).|R -> W (in STGD1).			O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.1805G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.936785	0.92458	2.27E-4	1.16E-4	ENSG00000198691	ENST00000370225;ENST00000535735	D;D	0.97575	-4.44;-4.44	4.95	4.04	0.47022	.	0.058940	0.64402	D	0.000009	D	0.97529	0.9191	M	0.73430	2.235	0.54753	D	0.999987	D;P	0.89917	1.0;0.896	D;P	0.97110	1.0;0.513	D	0.96947	0.9692	10	0.37606	T	0.19	.	13.3478	0.60584	0.0:0.9242:0.0:0.0758	rs61749410	602;602	F5H6E5;P78363	.;ABCA4_HUMAN	Q	602	ENSP00000359245:R602Q;ENSP00000437682:R602Q	ENSP00000359245:R602Q	R	-	2	0	ABCA4	94300853	1.000000	0.71417	0.996000	0.52242	0.983000	0.72400	4.756000	0.62205	1.319000	0.45190	0.561000	0.74099	CGG		0.557	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		23	24	0	0	0	1	0	23	24				
TAF1	6872	broad.mit.edu	37	X	70607151	70607151	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:70607151A>G	ENST00000373790.4	+	15	2315	c.2264A>G	c.(2263-2265)cAt>cGt	p.H755R	TAF1_ENST00000449580.1_Missense_Mutation_p.H755R|TAF1_ENST00000423759.1_Missense_Mutation_p.H776R|TAF1_ENST00000276072.3_Missense_Mutation_p.H776R	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	755	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATTTATCTTCATAAGATGCCA	0.373																																						ENST00000449580.1																			0				breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124						c.(2263-2265)cAt>cGt		TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa							137.0	127.0	131.0					X																	70607151		2203	4300	6503	SO:0001583	missense	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70607151A>G		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2264A>G	X.37:g.70607151A>G	ENSP00000362895:p.His755Arg					TAF1_ENST00000276072.3_Missense_Mutation_p.H776R|TAF1_ENST00000423759.1_Missense_Mutation_p.H776R|TAF1_ENST00000373790.4_Missense_Mutation_p.H755R	p.H755R			P21675	TAF1_HUMAN			15	2315	+	Renal(35;0.156)	all_lung(315;0.000321)	755					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	c.2264A>G	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	20.9	4.068723	0.76301	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.20332	2.08;2.08;2.08;2.08	5.03	5.03	0.67393	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.090151	0.85682	D	0.000000	T	0.52709	0.1751	M	0.89478	3.035	0.80722	D	1	D;P	0.76494	0.999;0.709	D;P	0.85130	0.997;0.781	T	0.62905	-0.6755	10	0.87932	D	0	.	14.1119	0.65126	1.0:0.0:0.0:0.0	.	755;776	P21675;P21675-2	TAF1_HUMAN;.	R	755;755;776;776	ENSP00000362895:H755R;ENSP00000389000:H755R;ENSP00000406549:H776R;ENSP00000276072:H776R	ENSP00000276072:H776R	H	+	2	0	TAF1	70523876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.954000	0.93051	1.779000	0.52309	0.373000	0.22412	CAT		0.373	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606		67	13	0	0	0	1	0	67	13				
PRKCQ	5588	broad.mit.edu	37	10	6506275	6506275	+	Splice_Site	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:6506275G>A	ENST00000263125.5	-	13	1544	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	PRKCQ_ENST00000397176.2_Splice_Site_p.T482M|PRKCQ_ENST00000539722.1_Splice_Site_p.T357M	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	482	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of T cell apoptotic process (GO:0070233)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of T-helper 2 cell activation (GO:2000570)|protein ubiquitination (GO:0016567)|regulation of cell growth (GO:0001558)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of transcription, DNA-templated (GO:0006355)|rhodopsin mediated signaling pathway (GO:0016056)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|immunological synapse (GO:0001772)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45					Tamoxifen(DB00675)	AGCCTCTTACGTCGCTCTGGA	0.458																																					Ovarian(50;572 1126 10530 25349 30594)	ENST00000263125.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						c.e13+1		protein kinase C, theta							265.0	273.0	270.0					10																	6506275		2203	4300	6503	SO:0001630	splice_region_variant	5588				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr10:6506275G>A	L07032	CCDS7079.1, CCDS55701.1, CCDS60482.1	10p15	2009-07-10			ENSG00000065675	ENSG00000065675	2.7.11.1		9410	protein-coding gene	gene with protein product		600448				8444877	Standard	NM_001282645		Approved		uc001ijj.2	Q04759	OTTHUMG00000017623	ENST00000263125.5:c.1445+1C>T	10.37:g.6506275G>A						PRKCQ_ENST00000539722.1_Splice_Site_p.T357_splice|PRKCQ_ENST00000397176.2_Splice_Site_p.T482_splice	p.T482_splice	NM_006257.3	NP_006248.1	Q04759	KPCT_HUMAN			13	1544	-			482			Protein kinase.		B4DF52|Q14DH6|Q3MJF1|Q64FY5|Q9H508|Q9H549	Splice_Site	SNP	ENST00000263125.5	37	c.1445_splice	CCDS7079.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.26|10.26	1.301373|1.301373	0.23736|0.23736	.|.	.|.	ENSG00000065675|ENSG00000065675	ENST00000397178|ENST00000263125;ENST00000397176;ENST00000539722	.|T;T;T	.|0.65732	.|-0.17;-0.17;-0.17	5.11|5.11	4.21|4.21	0.49690|0.49690	.|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|T	0.59514|0.59514	0.2199|0.2199	N|N	0.16656|0.16656	0.425|0.425	0.80722|0.80722	D|D	1|1	.|P;D;P;D	.|0.76494	.|0.696;0.977;0.644;0.999	.|B;P;B;D	.|0.63957	.|0.178;0.579;0.193;0.92	T|T	0.56914|0.56914	-0.7900|-0.7900	5|9	.|.	.|.	.|.	.|.	10.009|10.009	0.41975|0.41975	0.0756:0.1384:0.786:0.0|0.0756:0.1384:0.786:0.0	.|.	.|357;254;482;482	.|B4DF52;Q5JUN8;Q04759-2;Q04759	.|.;.;.;KPCT_HUMAN	C|M	255|482;482;357	.|ENSP00000263125:T482M;ENSP00000380361:T482M;ENSP00000441752:T357M	.|.	R|T	-|-	1|2	0|0	PRKCQ|PRKCQ	6546281|6546281	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.180000|0.180000	0.23129|0.23129	3.044000|3.044000	0.49830|0.49830	1.151000|1.151000	0.42436|0.42436	-0.251000|-0.251000	0.11542|0.11542	CGT|ACG		0.458	PRKCQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046665.1	NM_006257	Missense_Mutation	175	210	0	0	0	1	0	175	210				
COL7A1	1294	broad.mit.edu	37	3	48603954	48603954	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:48603954C>G	ENST00000328333.8	-	112	8454	c.8347G>C	c.(8347-8349)Gct>Cct	p.A2783P	UCN2_ENST00000273610.3_5'Flank|COL7A1_ENST00000470076.1_5'Flank|COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2783	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GTCAGTGCAGCTTCTCCCTTC	0.672																																						ENST00000328333.8																			0				NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137						c.(8347-8349)Gct>Cct		collagen, type VII, alpha 1							87.0	91.0	90.0					3																	48603954		2203	4300	6503	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48603954C>G	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8347G>C	3.37:g.48603954C>G	ENSP00000332371:p.Ala2783Pro					COL7A1_ENST00000454817.1_Missense_Mutation_p.A2751P	p.A2783P	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	112	8454	-			2783			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8347G>C	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667675	0.14710	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.94613	-3.47;-3.47	4.6	3.68	0.42216	.	0.166659	0.28284	N	0.015919	T	0.81602	0.4857	N	0.01086	-1.025	0.32029	N	0.599746	B	0.18013	0.025	B	0.23574	0.047	T	0.77867	-0.2428	10	0.16420	T	0.52	.	11.9853	0.53145	0.0:0.7185:0.2815:0.0	.	2783	Q02388	CO7A1_HUMAN	P	2783;2751	ENSP00000332371:A2783P;ENSP00000412569:A2751P	ENSP00000332371:A2783P	A	-	1	0	COL7A1	48578958	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	1.486000	0.35530	2.404000	0.81709	0.467000	0.42956	GCT		0.672	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		7	106	0	0	0	1	0	7	106				
CALN1	83698	broad.mit.edu	37	7	71743757	71743757	+	Missense_Mutation	SNP	A	A	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:71743757A>G	ENST00000329008.5	-	2	330	c.32T>C	c.(31-33)tTg>tCg	p.L11S	CALN1_ENST00000431984.1_Missense_Mutation_p.L11S|CALN1_ENST00000412588.1_Missense_Mutation_p.L53S|CALN1_ENST00000405452.2_Missense_Mutation_p.L11S|CALN1_ENST00000395276.2_Missense_Mutation_p.L11S|CALN1_ENST00000395275.2_Missense_Mutation_p.L53S	NM_001017440.2	NP_001017440.1	Q9BXU9	CABP8_HUMAN	calneuron 1	11						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CCCCTTGTACAACAAGCCGGC	0.522																																						ENST00000395275.2																			0				biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32						c.(157-159)tTg>tCg		calneuron 1							87.0	64.0	72.0					7																	71743757		2203	4300	6503	SO:0001583	missense	83698					Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	g.chr7:71743757A>G	AF282250	CCDS5541.1, CCDS47603.1	7q11	2013-01-10			ENSG00000183166	ENSG00000183166		"""EF-hand domain containing"""	13248	protein-coding gene	gene with protein product	"""calcium-binding protein CABP8"""	607176				11286509	Standard	NM_031468		Approved		uc003twb.4	Q9BXU9	OTTHUMG00000023787	ENST00000329008.5:c.32T>C	7.37:g.71743757A>G	ENSP00000332498:p.Leu11Ser					CALN1_ENST00000431984.1_Missense_Mutation_p.L11S|CALN1_ENST00000395276.2_Missense_Mutation_p.L11S|CALN1_ENST00000405452.2_Missense_Mutation_p.L11S|CALN1_ENST00000412588.1_Missense_Mutation_p.L53S|CALN1_ENST00000329008.5_Missense_Mutation_p.L11S	p.L53S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN			3	546	-		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)	11			EF-hand 1.		J3KQA7	Missense_Mutation	SNP	ENST00000329008.5	37	c.158T>C	CCDS5541.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.599792	0.87055	.	.	ENSG00000183166	ENST00000329008;ENST00000395275;ENST00000395276;ENST00000431984;ENST00000412588;ENST00000405452;ENST00000446128	T;T;T;T;T;T;T	0.75260	-0.54;-0.5;-0.54;-0.54;-0.5;-0.54;-0.92	5.94	5.94	0.96194	.	0.000000	0.64402	D	0.000001	T	0.67590	0.2909	N	0.19112	0.55	0.39017	D	0.95967	D;D	0.53151	0.958;0.958	P;P	0.47827	0.558;0.558	T	0.71140	-0.4679	10	0.39692	T	0.17	-40.3214	15.5763	0.76392	1.0:0.0:0.0:0.0	.	11;11	A4D1Z1;Q9BXU9	.;CABP8_HUMAN	S	11;53;11;11;53;11;11	ENSP00000332498:L11S;ENSP00000378690:L53S;ENSP00000378691:L11S;ENSP00000410704:L11S;ENSP00000391882:L53S;ENSP00000384354:L11S;ENSP00000411806:L11S	ENSP00000332498:L11S	L	-	2	0	CALN1	71381693	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.871000	0.92346	2.272000	0.75746	0.460000	0.39030	TTG		0.522	CALN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320044.2	NM_031468		12	27	0	0	0	1	0	12	27				
NIPBL	25836	broad.mit.edu	37	5	37049341	37049341	+	Missense_Mutation	SNP	C	C	T	rs80358376		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:37049341C>T	ENST00000282516.8	+	40	7391	c.6892C>T	c.(6892-6894)Cgc>Tgc	p.R2298C	NIPBL_ENST00000448238.2_Missense_Mutation_p.R2298C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2298			R -> C (in CDLS1). {ECO:0000269|PubMed:15318302}.|R -> H (in CDLS1). {ECO:0000269|PubMed:15318302}.		brain development (GO:0007420)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to X-ray (GO:0071481)|cognition (GO:0050890)|developmental growth (GO:0048589)|ear morphogenesis (GO:0042471)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|external genitalia morphogenesis (GO:0035261)|eye morphogenesis (GO:0048592)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|forelimb morphogenesis (GO:0035136)|gall bladder development (GO:0061010)|heart morphogenesis (GO:0003007)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|metanephros development (GO:0001656)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of ossification (GO:0045778)|regulation of developmental growth (GO:0048638)|regulation of embryonic development (GO:0045995)|regulation of hair cycle (GO:0042634)|sensory perception of sound (GO:0007605)|stem cell maintenance (GO:0019827)|uterus morphogenesis (GO:0061038)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMC loading complex (GO:0032116)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|histone deacetylase binding (GO:0042826)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GTCAAGTGTACGCCACTTTGC	0.413																																						ENST00000282516.8																			0				autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	GRCh37	CM042519|CM062919	NIPBL	M	rs80358376	c.(6892-6894)Cgc>Tgc		Nipped-B homolog (Drosophila)							224.0	213.0	217.0					5																	37049341		2203	4300	6503	SO:0001583	missense	25836				brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	g.chr5:37049341C>T	AB019494	CCDS3920.1, CCDS47198.1	5p13.2	2009-08-28			ENSG00000164190	ENSG00000164190			28862	protein-coding gene	gene with protein product	"""sister chromatid cohesion 2 homolog (yeast)"""	608667				15146186, 15146185	Standard	NM_133433		Approved	IDN3, DKFZp434L1319, FLJ11203, FLJ12597, FLJ13354, FLJ13648, Scc2	uc003jkl.4	Q6KC79	OTTHUMG00000090795	ENST00000282516.8:c.6892C>T	5.37:g.37049341C>T	ENSP00000282516:p.Arg2298Cys					NIPBL_ENST00000448238.2_Missense_Mutation_p.R2298C	p.R2298C	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)		40	7391	+	all_lung(31;0.000447)|Hepatocellular(1;0.108)		2298		R -> C (in CDLS1).|R -> H (in CDLS1).			Q6KCD6|Q6N080|Q6ZT92|Q7Z2E6|Q8N4M5|Q9Y6Y3|Q9Y6Y4	Missense_Mutation	SNP	ENST00000282516.8	37	c.6892C>T	CCDS3920.1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.387250	0.61956	.	.	ENSG00000164190	ENST00000282516;ENST00000448238	D;D	0.97041	-4.22;-4.22	5.55	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.056418	0.64402	D	0.000002	D	0.98538	0.9512	M	0.89287	3.02	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99429	1.0935	10	0.87932	D	0	-2.9033	14.3972	0.67020	0.0:0.9288:0.0:0.0712	.	2298;2298	Q6KC79;Q6KC79-2	NIPBL_HUMAN;.	C	2298	ENSP00000282516:R2298C;ENSP00000406266:R2298C	ENSP00000282516:R2298C	R	+	1	0	NIPBL	37085098	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.543000	0.60684	1.344000	0.45657	0.585000	0.79938	CGC		0.413	NIPBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207582.1	NM_015384		21	134	0	0	0	1	0	21	134				
FAM169A	26049	broad.mit.edu	37	5	74137476	74137476	+	Missense_Mutation	SNP	T	T	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:74137476T>C	ENST00000389156.4	-	2	116	c.26A>G	c.(25-27)gAa>gGa	p.E9G	FAM169A_ENST00000380515.3_Missense_Mutation_p.E9G|FAM169A_ENST00000510496.1_Missense_Mutation_p.E9G	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	9						membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						GCTGCAATTTTCCAGCATATC	0.378																																						ENST00000389156.4																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						c.(25-27)gAa>gGa		family with sequence similarity 169, member A							94.0	84.0	87.0					5																	74137476		1844	4102	5946	SO:0001583	missense	26049							g.chr5:74137476T>C		CCDS43330.1	5q13.3	2008-08-08			ENSG00000198780	ENSG00000198780			29138	protein-coding gene	gene with protein product		615769				10048485	Standard	NM_015566		Approved	KIAA0888	uc003kdm.4	Q9Y6X4	OTTHUMG00000162930	ENST00000389156.4:c.26A>G	5.37:g.74137476T>C	ENSP00000373808:p.Glu9Gly					FAM169A_ENST00000510496.1_Missense_Mutation_p.E9G|FAM169A_ENST00000380515.3_Missense_Mutation_p.E9G	p.E9G	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN			2	116	-			9					A8K1T9|Q6MZT0|Q9H989	Missense_Mutation	SNP	ENST00000389156.4	37	c.26A>G	CCDS43330.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.581500	0.46006	.	.	ENSG00000198780	ENST00000389156;ENST00000510496;ENST00000380515;ENST00000513277;ENST00000514200;ENST00000506954	T;T;T;T;T;T	0.33216	1.42;1.42;1.42;1.42;1.42;1.42	5.61	3.22	0.36961	.	0.762333	0.11527	N	0.555112	T	0.23210	0.0561	L	0.29908	0.895	0.21740	N	0.999569	B;B	0.18013	0.025;0.01	B;B	0.15484	0.013;0.013	T	0.17776	-1.0358	10	0.48119	T	0.1	-10.5523	9.8544	0.41077	0.0:0.14:0.0:0.86	.	9;9	D6RB01;Q9Y6X4	.;F169A_HUMAN	G	9	ENSP00000373808:E9G;ENSP00000424578:E9G;ENSP00000369886:E9G;ENSP00000423631:E9G;ENSP00000423883:E9G;ENSP00000421451:E9G	ENSP00000369886:E9G	E	-	2	0	FAM169A	74173232	0.870000	0.30015	0.998000	0.56505	0.991000	0.79684	1.006000	0.29847	0.972000	0.38314	0.477000	0.44152	GAA		0.378	FAM169A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371092.2			10	41	0	0	0	1	0	10	41				
VPS53	55275	broad.mit.edu	37	17	556625	556625	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:556625C>T	ENST00000571805.1	-	7	650	c.514G>A	c.(514-516)Gga>Aga	p.G172R	VPS53_ENST00000291074.5_Missense_Mutation_p.G143R|VPS53_ENST00000437048.2_Missense_Mutation_p.G172R|VPS53_ENST00000576149.1_Intron|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000574029.1_Intron			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	172					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCAACTTCTCCGTATTGTCTT	0.458																																						ENST00000437048.2																			0				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19						c.(514-516)Gga>Aga		vacuolar protein sorting 53 homolog (S. cerevisiae)							132.0	125.0	127.0					17																	556625		2203	4300	6503	SO:0001583	missense	55275				protein transport	endosome membrane|Golgi apparatus		g.chr17:556625C>T		CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.514G>A	17.37:g.556625C>T	ENSP00000459312:p.Gly172Arg					VPS53_ENST00000574029.1_Intron|VPS53_ENST00000571805.1_Missense_Mutation_p.G172R|VPS53_ENST00000291074.5_Missense_Mutation_p.G143R|VPS53_ENST00000401468.3_Intron|VPS53_ENST00000446250.2_5'UTR|VPS53_ENST00000576149.1_Intron	p.G172R	NM_001128159.2	NP_001121631.1	Q5VIR6	VPS53_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)	7	660	-			172					A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Missense_Mutation	SNP	ENST00000571805.1	37	c.514G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.397110	0.83120	.	.	ENSG00000141252	ENST00000437048;ENST00000291074;ENST00000389040	T;T;T	0.32515	1.45;1.45;1.45	5.76	5.76	0.90799	Vps53-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.32823	0.0842	L	0.37561	1.115	0.80722	D	1	D;D;P	0.55605	0.972;0.959;0.886	P;B;B	0.45138	0.471;0.444;0.347	T	0.04005	-1.0985	10	0.62326	D	0.03	-21.5699	18.8872	0.92383	0.0:1.0:0.0:0.0	.	172;172;143	Q5VIR6-4;Q5VIR6;Q5VIR6-2	.;VPS53_HUMAN;.	R	172;143;172	ENSP00000401435:G172R;ENSP00000291074:G143R;ENSP00000373692:G172R	ENSP00000291074:G143R	G	-	1	0	VPS53	503375	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.498000	0.66931	2.882000	0.98803	0.655000	0.94253	GGA		0.458	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289		21	26	0	0	0	1	0	21	26				
LRRC4	64101	broad.mit.edu	37	7	127670549	127670549	+	Missense_Mutation	SNP	C	C	G			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:127670549C>G	ENST00000249363.3	-	2	402	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	49	LRRNT.				postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CACGAGCAGACGGAGGGGCAG	0.647																																						ENST00000249363.3																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(145-147)Gtc>Ctc		leucine rich repeat containing 4							78.0	85.0	82.0					7																	127670549		2203	4300	6503	SO:0001583	missense	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127670549C>G	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.145G>C	7.37:g.127670549C>G	ENSP00000249363:p.Val49Leu					SND1_ENST00000354725.3_Intron	p.V49L	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	402	-			49			LRRNT.		A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	c.145G>C	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	C	11.04	1.522817	0.27211	.	.	ENSG00000128594	ENST00000249363;ENST00000476782;ENST00000478726	T;D	0.96073	4.47;-3.9	4.66	4.66	0.58398	Leucine-rich repeat-containing N-terminal (1);	0.508933	0.16557	N	0.209210	D	0.89622	0.6768	N	0.12746	0.255	0.49051	D	0.999742	B	0.02656	0.0	B	0.04013	0.001	D	0.85052	0.0929	10	0.26408	T	0.33	.	15.09	0.72185	0.0:1.0:0.0:0.0	.	49	Q9HBW1	LRRC4_HUMAN	L	49	ENSP00000249363:V49L;ENSP00000418093:V49L	ENSP00000249363:V49L	V	-	1	0	LRRC4	127457785	0.968000	0.33430	0.998000	0.56505	0.991000	0.79684	2.638000	0.46562	2.373000	0.80994	0.655000	0.94253	GTC		0.647	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143		5	126	0	0	0	1	0	5	126				
SAP130	79595	broad.mit.edu	37	2	128757879	128757879	+	Splice_Site	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:128757879A>C	ENST00000259235.3	-	8	1225		c.e8+1		SAP130_ENST00000357702.5_Splice_Site|SAP130_ENST00000259234.6_Splice_Site	NM_024545.3	NP_078821.2	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa						chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|STAGA complex (GO:0030914)	transcription coactivator activity (GO:0003713)			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TTTTGGTTTTACCTGAGCCAT	0.483																																						ENST00000357702.5																			0				NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45						c.e8+1		Sin3A-associated protein, 130kDa							261.0	230.0	240.0					2																	128757879		2203	4300	6503	SO:0001630	splice_region_variant	79595				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity	g.chr2:128757879A>C	BC017453	CCDS2153.1, CCDS54397.1	2q14.3	2008-02-05	2006-02-02		ENSG00000136715	ENSG00000136715			29813	protein-coding gene	gene with protein product		609697	"""sin3A-associated protein, 130kDa"""			11230166, 12724404	Standard	NM_001145928		Approved	FLJ12761	uc010fmd.2	Q9H0E3	OTTHUMG00000131571	ENST00000259235.3:c.1095+1T>G	2.37:g.128757879A>C						SAP130_ENST00000259234.6_Splice_Site|SAP130_ENST00000259235.3_Splice_Site		NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0771)	8	1227	-	Colorectal(110;0.1)							B7ZLM3|C9K0X9|Q4ZFV4|Q53T46|Q8WVW4|Q9H9G8	Splice_Site	SNP	ENST00000259235.3	37		CCDS2153.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392073	0.83011	.	.	ENSG00000136715	ENST00000357702;ENST00000259235;ENST00000259234	.	.	.	5.68	5.68	0.88126	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9377	0.79729	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SAP130	128474349	1.000000	0.71417	0.999000	0.59377	0.877000	0.50540	6.625000	0.74248	2.159000	0.67721	0.528000	0.53228	.		0.483	SAP130-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000254436.3	NM_024545	Intron	13	51	0	0	0	1	0	13	51				
RNF213	57674	broad.mit.edu	37	17	78346514	78346514	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:78346514C>T	ENST00000582970.1	+	48	12874	c.12731C>T	c.(12730-12732)tCg>tTg	p.S4244L	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4293L|RNF213_ENST00000336301.6_Missense_Mutation_p.S2317L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4244					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATTTCCTCTCGGAGCCTGAG	0.557																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(12730-12732)tCg>tTg		ring finger protein 213							28.0	27.0	27.0					17																	78346514		2203	4300	6503	SO:0001583	missense	57674							g.chr17:78346514C>T	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.12731C>T	17.37:g.78346514C>T	ENSP00000464087:p.Ser4244Leu					CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.S4293L|RNF213_ENST00000336301.6_Missense_Mutation_p.S2317L|CTD-2047H16.4_ENST00000575034.1_RNA	p.S4244L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		48	12874	+	all_neural(118;0.0538)		280					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	ENST00000582970.1	37	c.12731C>T	CCDS58606.1	.	.	.	.	.	.	.	.	.	.	C	6.845	0.525067	0.13066	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22539	1.95	5.29	-1.07	0.09968	.	1.516220	0.03586	N	0.231081	T	0.15046	0.0363	M	0.65975	2.015	0.09310	N	1	B;P	0.36412	0.025;0.552	B;B	0.24701	0.011;0.055	T	0.17531	-1.0366	10	0.11794	T	0.64	.	0.1899	0.00133	0.2496:0.2327:0.2503:0.2674	.	4293;2317	C9JCP4;Q63HN8	.;RN213_HUMAN	L	4244;4293;2317	ENSP00000338218:S2317L	ENSP00000338218:S2317L	S	+	2	0	RNF213	75961109	0.056000	0.20664	0.000000	0.03702	0.012000	0.07955	0.584000	0.23864	-0.418000	0.07450	0.655000	0.94253	TCG		0.557	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		23	26	0	0	0	1	0	23	26				
LZTS1	11178	broad.mit.edu	37	8	20107496	20107496	+	Missense_Mutation	SNP	C	C	T	rs199603808		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr8:20107496C>T	ENST00000381569.1	-	4	1885	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	510					cell cycle (GO:0007049)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of macroautophagy (GO:0016242)|positive regulation of type I interferon production (GO:0032481)|regulation of dendrite morphogenesis (GO:0048814)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|nucleoplasm (GO:0005654)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCCCGCAGCTCGGCCCGCAGC	0.701																																						ENST00000381569.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29						c.(1528-1530)Gag>Aag		leucine zipper, putative tumor suppressor 1							46.0	50.0	49.0					8																	20107496		2203	4300	6503	SO:0001583	missense	11178				cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:20107496C>T	AF123659	CCDS6015.1	8p22	2012-10-05			ENSG00000061337	ENSG00000061337			13861	protein-coding gene	gene with protein product		606551	"""F37/Esophageal cancer-related gene-coding leucine-zipper motif"""			10097140, 17349584	Standard	NM_021020		Approved	FEZ1	uc003wzr.3	Q9Y250	OTTHUMG00000097027	ENST00000381569.1:c.1528G>A	8.37:g.20107496C>T	ENSP00000370981:p.Glu510Lys					LZTS1_ENST00000522290.1_Intron|LZTS1_ENST00000265801.6_Missense_Mutation_p.E510K	p.E510K			Q9Y250	LZTS1_HUMAN		Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)	4	1885	-			510					D3DSQ6|Q9Y5V7|Q9Y5V8|Q9Y5V9|Q9Y5W0|Q9Y5W1|Q9Y5W2	Missense_Mutation	SNP	ENST00000381569.1	37	c.1528G>A	CCDS6015.1	.	.	.	.	.	.	.	.	.	.	c	26.2	4.713867	0.89112	.	.	ENSG00000061337	ENST00000381569;ENST00000265801	T;T	0.52983	0.64;0.64	4.97	4.1	0.47936	.	0.176391	0.49916	N	0.000128	T	0.51890	0.1701	M	0.83603	2.65	0.58432	D	0.999992	D	0.56746	0.977	B	0.43123	0.409	T	0.59150	-0.7508	10	0.46703	T	0.11	-41.8419	11.9069	0.52717	0.0:0.9145:0.0:0.0855	.	510	Q9Y250	LZTS1_HUMAN	K	510	ENSP00000370981:E510K;ENSP00000265801:E510K	ENSP00000265801:E510K	E	-	1	0	LZTS1	20151776	1.000000	0.71417	0.938000	0.37757	0.940000	0.58332	3.859000	0.55987	1.101000	0.41535	0.556000	0.70494	GAG		0.701	LZTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214122.1	NM_021020		36	13	0	0	0	1	0	36	13				
SNRPA	6626	broad.mit.edu	37	19	41265493	41265493	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:41265493G>A	ENST00000243563.3	+	3	954	c.404G>A	c.(403-405)gGg>gAg	p.G135E	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	135					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snRNA binding (GO:0017069)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCCGTGGTGGGGGCTGTCCAG	0.682																																						ENST00000243563.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10						c.(403-405)gGg>gAg		small nuclear ribonucleoprotein polypeptide A							22.0	23.0	23.0					19																	41265493		2202	4297	6499	SO:0001583	missense	6626					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding	g.chr19:41265493G>A	X06347	CCDS12565.1	19q13.1	2013-02-12				ENSG00000077312		"""RNA binding motif (RRM) containing"""	11151	protein-coding gene	gene with protein product		182285				1701111	Standard	NM_004596		Approved	U1A, U1-A, Mud1	uc002ooz.3	P09012		ENST00000243563.3:c.404G>A	19.37:g.41265493G>A	ENSP00000243563:p.Gly135Glu					SNRPA_ENST00000599570.1_3'UTR	p.G135E	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		3	954	+			135						Missense_Mutation	SNP	ENST00000243563.3	37	c.404G>A	CCDS12565.1	.	.	.	.	.	.	.	.	.	.	G	9.555	1.117018	0.20795	.	.	ENSG00000077312	ENST00000243563;ENST00000545469	T	0.24151	1.87	5.7	4.64	0.57946	.	0.227413	0.44097	D	0.000500	T	0.12135	0.0295	N	0.08118	0	0.31557	N	0.657986	B	0.26512	0.151	B	0.23018	0.043	T	0.10451	-1.0629	10	0.17369	T	0.5	-34.5328	11.6798	0.51451	0.0:0.2772:0.7228:0.0	.	135	P09012	SNRPA_HUMAN	E	135;56	ENSP00000243563:G135E	ENSP00000243563:G135E	G	+	2	0	SNRPA	45957333	0.312000	0.24545	0.771000	0.31576	0.014000	0.08584	1.605000	0.36815	2.687000	0.91594	0.655000	0.94253	GGG		0.682	SNRPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463118.2	NM_004596		31	25	0	0	0	1	0	31	25				
GPRASP1	9737	broad.mit.edu	37	X	101911930	101911930	+	Missense_Mutation	SNP	G	G	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:101911930G>T	ENST00000361600.5	+	5	3890	c.3089G>T	c.(3088-3090)tGt>tTt	p.C1030F	GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000537097.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1030F|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1030	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCCACGTGTTCAGTTGAA	0.562																																						ENST00000537097.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3088-3090)tGt>tTt		G protein-coupled receptor associated sorting protein 1							136.0	121.0	126.0					X																	101911930		2203	4300	6503	SO:0001583	missense	9737					cytoplasm	protein binding	g.chrX:101911930G>T	AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3089G>T	X.37:g.101911930G>T	ENSP00000355146:p.Cys1030Phe					GPRASP1_ENST00000415986.1_Missense_Mutation_p.C1030F|GPRASP1_ENST00000444152.1_Missense_Mutation_p.C1030F|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.C1030F	p.C1030F	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN			6	3902	+			1030			OPRD1-binding.		O43168|Q96LA1	Missense_Mutation	SNP	ENST00000361600.5	37	c.3089G>T	CCDS35352.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.936392	0.00484	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.08193	3.12;3.12;3.12;3.12	2.84	-3.74	0.04385	.	.	.	.	.	T	0.03608	0.0103	N	0.22421	0.69	0.09310	N	1	B	0.29212	0.237	B	0.18561	0.022	T	0.45745	-0.9240	9	0.10111	T	0.7	0.0077	5.1215	0.14862	0.6019:0.173:0.2251:0.0	.	1030	Q5JY77	GASP1_HUMAN	F	1030	ENSP00000393691:C1030F;ENSP00000409420:C1030F;ENSP00000355146:C1030F;ENSP00000445683:C1030F	ENSP00000355146:C1030F	C	+	2	0	GPRASP1	101798586	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.645000	0.05409	-1.230000	0.02561	0.284000	0.19432	TGT		0.562	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2	NM_014710		4	131	1	0	1	1	1	4	131				
EXO1	9156	broad.mit.edu	37	1	242042601	242042601	+	Missense_Mutation	SNP	G	G	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:242042601G>C	ENST00000366548.3	+	13	2658	c.2065G>C	c.(2065-2067)Gca>Cca	p.A689P	EXO1_ENST00000348581.5_Missense_Mutation_p.A689P|EXO1_ENST00000518483.1_Missense_Mutation_p.A689P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	689	Interaction with MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			GAGTTCAAATGCATCAAAGCT	0.413								Editing and processing nucleases																														ENST00000366548.3																			0				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45						c.(2065-2067)Gca>Cca	Editing and processing nucleases	exonuclease 1							46.0	50.0	48.0					1																	242042601		2203	4300	6503	SO:0001583	missense	9156				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity	g.chr1:242042601G>C	AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.2065G>C	1.37:g.242042601G>C	ENSP00000355506:p.Ala689Pro					EXO1_ENST00000348581.5_Missense_Mutation_p.A689P|EXO1_ENST00000518483.1_Missense_Mutation_p.A689P	p.A689P	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0107)		13	2658	+	Ovarian(103;0.103)	all_cancers(173;0.0555)	689			Interaction with MSH2.		O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	c.2065G>C	CCDS1620.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.65|12.65	2.002936|2.002936	0.35320|0.35320	.|.	.|.	ENSG00000174371|ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483|ENST00000521202	T;T;T|.	0.34667|.	1.35;1.35;1.35|.	5.42|5.42	-1.29|-1.29	0.09288|0.09288	.|.	0.901857|.	0.09614|.	N|.	0.778477|.	T|T	0.35740|0.35740	0.0942|0.0942	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	P;P;P|.	0.42337|.	0.668;0.776;0.668|.	B;P;B|.	0.44422|.	0.189;0.449;0.262|.	T|T	0.35500|0.35500	-0.9786|-0.9786	10|5	0.29301|.	T|.	0.29|.	-23.2989|-23.2989	6.1048|6.1048	0.20067|0.20067	0.3477:0.0:0.5346:0.1177|0.3477:0.0:0.5346:0.1177	.|.	688;689;689|.	A8K5H6;Q9UQ84-4;Q9UQ84|.	.;.;EXO1_HUMAN|.	P|S	689|87	ENSP00000355506:A689P;ENSP00000311873:A689P;ENSP00000430251:A689P|.	ENSP00000311873:A689P|.	A|C	+|+	1|2	0|0	EXO1|EXO1	240109224|240109224	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.236000|-0.236000	0.09003|0.09003	-0.107000|-0.107000	0.12088|0.12088	-0.808000|-0.808000	0.03180|0.03180	GCA|TGC		0.413	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027		17	22	0	0	0	1	0	17	22				
SFMBT2	57713	broad.mit.edu	37	10	7214029	7214029	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr10:7214029G>A	ENST00000361972.4	-	19	2333	c.2243C>T	c.(2242-2244)tCg>tTg	p.S748L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.S748L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	748					negative regulation of gene expression (GO:0010629)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	histone binding (GO:0042393)			NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTCCGCCGACGAGGTGTCCGT	0.711																																						ENST00000361972.4																			0				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						c.(2242-2244)tCg>tTg		Scm-like with four mbt domains 2							22.0	26.0	25.0					10																	7214029		2203	4300	6503	SO:0001583	missense	57713				regulation of transcription, DNA-dependent	nucleus		g.chr10:7214029G>A	AB046837	CCDS31138.1	10p15.1	2013-01-10	2003-11-14		ENSG00000198879	ENSG00000198879		"""Sterile alpha motif (SAM) domain containing"""	20256	protein-coding gene	gene with protein product		615392	"""Scm-related gene containing four mbt domains 2"""			10997877	Standard	NM_001029880		Approved	KIAA1617	uc009xio.2	Q5VUG0	OTTHUMG00000017630	ENST00000361972.4:c.2243C>T	10.37:g.7214029G>A	ENSP00000355109:p.Ser748Leu					SFMBT2_ENST00000397167.1_Missense_Mutation_p.S748L	p.S748L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN			19	2333	-			748					A7MD09|Q9HCF5	Missense_Mutation	SNP	ENST00000361972.4	37	c.2243C>T	CCDS31138.1	.	.	.	.	.	.	.	.	.	.	G	18.53	3.644447	0.67244	.	.	ENSG00000198879	ENST00000361972;ENST00000397167	T;T	0.18657	2.2;2.2	5.25	4.34	0.51931	.	0.222920	0.47852	D	0.000208	T	0.22360	0.0539	M	0.74258	2.255	0.80722	D	1	P	0.52316	0.952	B	0.34536	0.185	T	0.14364	-1.0475	10	0.46703	T	0.11	.	14.1907	0.65637	0.0734:0.0:0.9266:0.0	.	748	Q5VUG0	SMBT2_HUMAN	L	748	ENSP00000355109:S748L;ENSP00000380353:S748L	ENSP00000355109:S748L	S	-	2	0	SFMBT2	7254035	1.000000	0.71417	0.515000	0.27774	0.245000	0.25701	6.854000	0.75440	1.176000	0.42840	0.561000	0.74099	TCG		0.711	SFMBT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046673.1	NM_001029880		5	22	0	0	0	1	0	5	22				
IRX1	79192	broad.mit.edu	37	5	3600104	3600104	+	Missense_Mutation	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr5:3600104G>A	ENST00000302006.3	+	2	1094	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	348					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						cgggccctccgccggggcgcc	0.706																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(1042-1044)Gcc>Acc		iroquois homeobox 1							11.0	9.0	10.0					5																	3600104		2078	4056	6134	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3600104G>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.1042G>A	5.37:g.3600104G>A	ENSP00000305244:p.Ala348Thr					CTD-2012M11.3_ENST00000559410.1_RNA	p.A348T	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	1094	+			348					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.1042G>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	G	1.237	-0.622328	0.03636	.	.	ENSG00000170549	ENST00000302006	T	0.59906	0.23	4.19	0.298	0.15766	.	0.675230	0.14475	N	0.317287	T	0.32823	0.0842	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.17531	-1.0366	10	0.17369	T	0.5	-5.8883	6.9845	0.24721	0.4581:0.0:0.5419:0.0	.	348	P78414	IRX1_HUMAN	T	348	ENSP00000305244:A348T	ENSP00000305244:A348T	A	+	1	0	IRX1	3653104	0.013000	0.17824	0.000000	0.03702	0.002000	0.02628	1.350000	0.34010	0.049000	0.15920	0.563000	0.77884	GCC		0.706	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		7	0	0	0	0	1	0	7	0				
SHQ1	55164	broad.mit.edu	37	3	72799764	72799764	+	Missense_Mutation	SNP	C	C	G	rs374852297		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:72799764C>G	ENST00000325599.8	-	11	1544	c.1405G>C	c.(1405-1407)Gaa>Caa	p.E469Q	SHQ1_ENST00000468371.1_5'UTR|SHQ1_ENST00000463369.1_Missense_Mutation_p.E441Q	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	469	Ser-rich.				negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		CCTGAGTCTTCGTTTCCAGAT	0.473																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(1405-1407)Gaa>Caa		SHQ1, H/ACA ribonucleoprotein assembly factor							95.0	83.0	87.0					3																	72799764		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72799764C>G	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.1405G>C	3.37:g.72799764C>G	ENSP00000315182:p.Glu469Gln					SHQ1_ENST00000463369.1_Missense_Mutation_p.E441Q|SHQ1_ENST00000468371.1_5'UTR	p.E469Q	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	11	1544	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	469			Ser-rich.		B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.1405G>C	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	11.30	1.599403	0.28534	.	.	ENSG00000144736	ENST00000325599;ENST00000463369	T;T	0.36157	1.3;1.27	5.88	1.79	0.24919	.	2.103700	0.02041	N	0.049272	T	0.22704	0.0548	N	0.08118	0	0.09310	N	1	B	0.16802	0.019	B	0.11329	0.006	T	0.23976	-1.0173	10	0.56958	D	0.05	-11.806	6.4341	0.21813	0.1102:0.4764:0.3423:0.0712	.	469	Q6PI26	SHQ1_HUMAN	Q	469;441	ENSP00000315182:E469Q;ENSP00000417452:E441Q	ENSP00000315182:E469Q	E	-	1	0	SHQ1	72882454	0.976000	0.34144	0.000000	0.03702	0.008000	0.06430	2.483000	0.45233	0.054000	0.16065	-0.169000	0.13324	GAA		0.473	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		16	19	0	0	0	1	0	16	19				
DDR2	4921	broad.mit.edu	37	1	162746131	162746131	+	Missense_Mutation	SNP	C	C	T	rs121964863		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:162746131C>T	ENST00000367922.3	+	17	2692	c.2254C>T	c.(2254-2256)Cgc>Tgc	p.R752C	RN7SL861P_ENST00000473793.2_RNA|DDR2_ENST00000367921.3_Missense_Mutation_p.R752C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	752	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding). {ECO:0000269|PubMed:19110212}.		biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	GCTCCCTATCCGCTGGATGTC	0.502																																					NSCLC(161;314 2006 8283 19651 23192)	ENST00000367922.2																			0				central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	GRCh37	CM090153	DDR2	M	rs121964863	c.(2254-2256)Cgc>Tgc		discoidin domain receptor tyrosine kinase 2							102.0	97.0	98.0					1																	162746131		2203	4300	6503	SO:0001583	missense	4921				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:162746131C>T	AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2254C>T	1.37:g.162746131C>T	ENSP00000356899:p.Arg752Cys					DDR2_ENST00000367921.3_Missense_Mutation_p.R752C	p.R752C	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.113)		17	2692	+	all_hematologic(112;0.115)		752		R -> C (in SEMD-SL; causes retention in an intracellular compartment and thereby abolishes signaling in response collagen binding).	Protein kinase.		Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	c.2254C>T	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.981666	0.93044	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83755	-1.76;-1.76	5.18	5.18	0.71444	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92328	0.7566	M	0.91038	3.17	0.42989	D	0.994482	D	0.89917	1.0	D	0.85130	0.997	D	0.93704	0.7018	9	0.87932	D	0	.	17.614	0.88063	0.0:1.0:0.0:0.0	.	752	Q16832	DDR2_HUMAN	C	752	ENSP00000356899:R752C;ENSP00000356898:R752C	ENSP00000356898:R752C	R	+	1	0	DDR2	161012755	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.659000	0.83766	2.541000	0.85698	0.637000	0.83480	CGC		0.502	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182		7	111	0	0	0	1	0	7	111				
MAGEE2	139599	broad.mit.edu	37	X	75004287	75004287	+	Missense_Mutation	SNP	C	C	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:75004287C>A	ENST00000373359.2	-	1	792	c.600G>T	c.(598-600)tgG>tgT	p.W200C		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	200	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCAGCAAGTCCCAAATGGAGG	0.512																																						ENST00000373359.2																			0				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(598-600)tgG>tgT		melanoma antigen family E, 2							67.0	61.0	63.0					X																	75004287		2203	4300	6503	SO:0001583	missense	139599							g.chrX:75004287C>A	AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.600G>T	X.37:g.75004287C>A	ENSP00000362457:p.Trp200Cys						p.W200C	NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN			1	792	-			200			MAGE 1.		Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	c.600G>T	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	C	4.038	0.004714	0.07866	.	.	ENSG00000186675	ENST00000373359	T	0.05925	3.37	3.1	2.21	0.28008	.	.	.	.	.	T	0.15219	0.0367	M	0.92122	3.275	0.26803	N	0.969154	B	0.28082	0.2	B	0.31751	0.135	T	0.10543	-1.0625	9	0.72032	D	0.01	.	7.1813	0.25774	0.0:0.7278:0.2722:0.0	.	200	Q8TD90	MAGE2_HUMAN	C	200	ENSP00000362457:W200C	ENSP00000362457:W200C	W	-	3	0	MAGEE2	74921012	1.000000	0.71417	0.289000	0.24876	0.026000	0.11368	1.172000	0.31908	0.664000	0.31047	0.422000	0.28245	TGG		0.512	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703		18	26	1	0	3.41278e-10	1	3.82396e-10	18	26				
CDR1	1038	broad.mit.edu	37	X	139865785	139865785	+	Silent	SNP	G	G	A			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chrX:139865785G>A	ENST00000370532.2	-	1	938	c.747C>T	c.(745-747)acC>acT	p.T249T		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	249										breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				AAGAAATCCAGGTCTTCCAGT	0.418																																						ENST00000370532.2																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25						c.(745-747)acC>acT		cerebellar degeneration-related protein 1, 34kDa							100.0	99.0	99.0					X																	139865785		2203	4300	6503	SO:0001819	synonymous_variant	1038							g.chrX:139865785G>A		CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.747C>T	X.37:g.139865785G>A							p.T249T	NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN			1	938	-	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)	249					Q5JXH6	Silent	SNP	ENST00000370532.2	37	c.747C>T	CCDS14670.1																																																																																				0.418	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058583.1	NM_004065		96	12	0	0	0	1	0	96	12				
KBTBD7	84078	broad.mit.edu	37	13	41768108	41768108	+	Missense_Mutation	SNP	A	A	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr13:41768108A>C	ENST00000379483.3	-	1	594	c.286T>G	c.(286-288)Ttc>Gtc	p.F96V		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	96	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.Y95fs*42(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		ATGCTCTTGAAGTAGGGACAC	0.602																																						ENST00000379483.3																			1	Deletion - Frameshift(1)	p.Y95fs*42(1)	ovary(1)	central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						c.(286-288)Ttc>Gtc		kelch repeat and BTB (POZ) domain containing 7							83.0	56.0	65.0					13																	41768108		2203	4300	6503	SO:0001583	missense	84078						protein binding	g.chr13:41768108A>C	AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.286T>G	13.37:g.41768108A>C	ENSP00000368797:p.Phe96Val						p.F96V	NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)	1	594	-		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)	96			BTB.		B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Missense_Mutation	SNP	ENST00000379483.3	37	c.286T>G	CCDS9377.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.867674	0.72065	.	.	ENSG00000120696	ENST00000379483	D	0.86432	-2.12	4.79	4.79	0.61399	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	U	0.000000	D	0.96062	0.8717	H	0.99011	4.4	0.53688	D	0.999979	D	0.89917	1.0	D	0.87578	0.998	D	0.97140	0.9824	10	0.87932	D	0	.	12.536	0.56142	1.0:0.0:0.0:0.0	.	96	Q8WVZ9	KBTB7_HUMAN	V	96	ENSP00000368797:F96V	ENSP00000368797:F96V	F	-	1	0	KBTBD7	40666108	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.720000	0.91442	1.897000	0.54924	0.460000	0.39030	TTC		0.602	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044660.1	NM_032138		20	27	0	0	0	1	0	20	27				
ALDH3A1	218	broad.mit.edu	37	17	19642904	19642904	+	Missense_Mutation	SNP	C	C	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:19642904C>T	ENST00000457500.2	-	7	1362	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V281M|ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V272M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V345M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V345M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	345					aging (GO:0007568)|cellular aldehyde metabolic process (GO:0006081)|oxidation-reduction process (GO:0055114)|positive regulation of cell proliferation (GO:0008284)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|alcohol dehydrogenase (NADP+) activity (GO:0008106)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)		AGGCTGCGCACGCACACGATG	0.632																																						ENST00000457500.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13						c.(1033-1035)Gtg>Atg		aldehyde dehydrogenase 3 family, member A1	NADH(DB00157)						82.0	65.0	71.0					17																	19642904		2203	4300	6503	SO:0001583	missense	218				cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity	g.chr17:19642904C>T	M74542	CCDS11212.1	17p11.2	2010-05-07	2010-05-07		ENSG00000108602	ENSG00000108602	1.2.1.5	"""Aldehyde dehydrogenases"""	405	protein-coding gene	gene with protein product	"""aldehyde dehydrogenase, dimeric NADP-preferring"""	100660		ALDH3		7774944, 1737758	Standard	NM_000691		Approved		uc010cqu.3	P30838	OTTHUMG00000059469	ENST00000457500.2:c.1033G>A	17.37:g.19642904C>T	ENSP00000411821:p.Val345Met					ALDH3A1_ENST00000494157.2_Missense_Mutation_p.V272M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.V345M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.V281M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.V345M	p.V345M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN		Colorectal(15;0.0829)	7	1362	-	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)		345					A8K828|Q9BT37	Missense_Mutation	SNP	ENST00000457500.2	37	c.1033G>A	CCDS11212.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424340	0.83667	.	.	ENSG00000108602	ENST00000225740;ENST00000395555;ENST00000379258;ENST00000444455;ENST00000457500;ENST00000457844;ENST00000439102	T;D;T;T;T	0.86366	-1.18;-2.11;-1.18;-1.18;-1.18	4.82	3.86	0.44501	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.000000	0.85682	D	0.000000	D	0.94788	0.8317	H	0.94771	3.58	0.80722	D	1	D;D;D	0.89917	0.957;1.0;0.957	P;D;P	0.83275	0.658;0.996;0.658	D	0.95228	0.8340	10	0.72032	D	0.01	-14.2153	12.3359	0.55067	0.0:0.9175:0.0:0.0825	.	345;462;345	A8K828;Q8N9T9;P30838	.;.;AL3A1_HUMAN	M	345;281;403;345;345;272;345	ENSP00000225740:V345M;ENSP00000378923:V281M;ENSP00000388469:V345M;ENSP00000411821:V345M;ENSP00000389766:V345M	ENSP00000225740:V345M	V	-	1	0	ALDH3A1	19583496	0.997000	0.39634	0.988000	0.46212	0.987000	0.75469	3.711000	0.54868	1.035000	0.39972	-0.137000	0.14449	GTG		0.632	ALDH3A1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132265.4	NM_000691		9	19	0	0	0	1	0	9	19				
MS4A15	219995	broad.mit.edu	37	11	60541407	60541407	+	Missense_Mutation	SNP	A	A	T			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr11:60541407A>T	ENST00000405633.3	+	6	675	c.596A>T	c.(595-597)cAt>cTt	p.H199L	MS4A15_ENST00000337911.4_Missense_Mutation_p.H106L|MS4A15_ENST00000528170.1_Missense_Mutation_p.H158L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	199						integral component of membrane (GO:0016021)				breast(1)|large_intestine(2)|lung(3)	6						CAAGCCATCCATGCCCAGGCC	0.607																																						ENST00000405633.3																			0				breast(1)|large_intestine(2)|lung(3)	6						c.(595-597)cAt>cTt		membrane-spanning 4-domains, subfamily A, member 15							155.0	123.0	134.0					11																	60541407		2203	4300	6503	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60541407A>T	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.596A>T	11.37:g.60541407A>T	ENSP00000386022:p.His199Leu					MS4A15_ENST00000337911.4_Missense_Mutation_p.H106L|MS4A15_ENST00000528170.1_Missense_Mutation_p.H158L	p.H199L	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			6	675	+			199					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.596A>T	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	A	3.831	-0.035817	0.07497	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.13196	2.61;2.62;3.02	4.96	3.06	0.35304	.	0.762686	0.12796	N	0.438385	T	0.05090	0.0136	N	0.02539	-0.55	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.11329	0.004;0.006	T	0.41875	-0.9484	10	0.26408	T	0.33	-10.4768	6.1894	0.20516	0.0964:0.0:0.7199:0.1837	.	158;199	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	L	158;106;199	ENSP00000434165:H158L;ENSP00000338692:H106L;ENSP00000386022:H199L	ENSP00000338692:H106L	H	+	2	0	MS4A15	60297983	0.007000	0.16637	0.001000	0.08648	0.000000	0.00434	1.109000	0.31135	0.496000	0.27904	-0.137000	0.14449	CAT		0.607	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			57	6	0	0	0	1	0	57	6				
DNAH9	1770	broad.mit.edu	37	17	11711183	11711183	+	Missense_Mutation	SNP	G	G	A	rs146734343		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr17:11711183G>A	ENST00000262442.4	+	44	8623	c.8555G>A	c.(8554-8556)cGc>cAc	p.R2852H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2852H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2852	AAA 4. {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)		ATCACACTGCGCAAAGGCTAC	0.557																																						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.(8554-8556)cGc>cAc		dynein, axonemal, heavy chain 9		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	66.0	59.0	61.0		8555	5.2	1.0	17	dbSNP_134	61	1,8599	1.2+/-3.3	0,1,4299	yes	missense	DNAH9	NM_001372.3	29	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	2852/4487	11711183	3,13003	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.chr17:11711183G>A	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.8555G>A	17.37:g.11711183G>A	ENSP00000262442:p.Arg2852His					DNAH9_ENST00000454412.2_Missense_Mutation_p.R2852H	p.R2852H	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)	44	8623	+		Breast(5;0.0122)|all_epithelial(5;0.131)	2852			AAA 4 (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.8555G>A	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332538	0.81801	4.54E-4	1.16E-4	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.51817	0.69;0.69	5.2	5.2	0.72013	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.116119	0.56097	D	0.000022	T	0.67211	0.2869	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.67031	-0.5773	10	0.46703	T	0.11	.	18.8224	0.92103	0.0:0.0:1.0:0.0	.	2852	Q9NYC9	DYH9_HUMAN	H	2852;2852;1434	ENSP00000262442:R2852H;ENSP00000414874:R2852H	ENSP00000262442:R2852H	R	+	2	0	DNAH9	11651908	1.000000	0.71417	0.986000	0.45419	0.952000	0.60782	3.458000	0.53014	2.436000	0.82500	0.650000	0.86243	CGC		0.557	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		3	32	0	0	0	1	0	3	32				
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	lincRNA	DEL	AAT	AAT	-	rs374889577|rs71803374	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:16945182_16945184delAAT	ENST00000412962.1	-	0	2335_2337				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TACTGATGAAAATAATAACAGAT	0.325														915	0.182708	0.1906	0.2853	5008	,	,		89095	0.0278		0.2157	False		,,,				2504	0.2249					ENST00000412962.1																			0																																																			0							g.chr1:16945182_16945184delAAT	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945185_16945187delAAT														0	2335_2337	-								Q8NF65|Q96FR5|Q9BRE8	RNA	DEL	ENST00000412962.1	37																																																																																						0.325	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	9						4	9	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16951775	16951776	+	lincRNA	INS	-	-	ATT	rs58352027|rs34631301|rs139363602		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:16951775_16951776insATT	ENST00000412962.1	-	0	1000							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TAATCTGTATCAttattattat	0.431																																						ENST00000412962.1																			0																																																			0							g.chr1:16951775_16951776insATT	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16951782_16951784dupATT														0	1000	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.431	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		4	3						4	3	---	---	---	---
RP11-567C20.3	0	broad.mit.edu	37	1	50680480	50680480	+	RNA	DEL	C	C	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:50680480delC	ENST00000440897.1	-	0	25																											GTTGCAGATACCCCCCAGCCC	0.607																																						ENST00000440897.1																			0																																																			0							g.chr1:50680480delC																													1.37:g.50680480delC														0	25	-									RNA	DEL	ENST00000440897.1	37																																																																																						0.607	RP11-567C20.3-001	KNOWN	basic	antisense	antisense	OTTHUMT00000021721.1			2	4						2	4	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143183213	143183213	+	lincRNA	DEL	A	A	-	rs376848462		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:143183213delA	ENST00000412204.2	-	0	2503				RP11-782C8.1_ENST00000438000.1_lincRNA																							ctaaagcaggagcaggaggat	0.423																																						ENST00000412204.2																			0																																																			0							g.chr1:143183213delA																													1.37:g.143183213delA						RP11-782C8.1_ENST00000438000.1_lincRNA								0	2503	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.423	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			3	3						3	3	---	---	---	---
RP11-435B5.7	0	broad.mit.edu	37	1	143532972	143532973	+	lincRNA	INS	-	-	G	rs111952315		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:143532972_143532973insG	ENST00000418607.2	-	0	204																											TAACAAACTTTTTTTTTGTCTT	0.317																																						ENST00000418607.2																			0																																																			0							g.chr1:143532972_143532973insG																													1.37:g.143532972_143532973insG														0	204	-									RNA	INS	ENST00000418607.2	37																																																																																						0.317	RP11-435B5.7-001	KNOWN	not_best_in_genome_evidence|basic	lincRNA	lincRNA	OTTHUMT00000037982.2			3	6						3	6	---	---	---	---
SRGAP2B	647135	broad.mit.edu	37	1	144011657	144011658	+	RNA	INS	-	-	G	rs66670828|rs11459943	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:144011657_144011658insG	ENST00000467933.1	+	0	915							P0DMP2	SRG2B_HUMAN	SLIT-ROBO Rho GTPase activating protein 2B						nervous system development (GO:0007399)												GGttcttttttttgttgtttgt	0.52													|||unknown(STR3?)	2483	0.495807	0.4962	0.4986	5008	,	,		53201	0.497		0.494	False		,,,				2504	0.4939					ENST00000467933.1																			0																																																			0							g.chr1:144011657_144011658insG		CCDS72854.1	1q21.1	2014-07-10	2013-02-13	2012-05-08	ENSG00000196369	ENSG00000196369			35237	protein-coding gene	gene with protein product		614703	"""SLIT-ROBO Rho GTPase activating protein 2 pseudogene 2"", ""SLIT-ROBO Rho GTPase activating protein 2B (pseudogene)"""	SRGAP2P2		22559943, 22559944	Standard	NM_001271870		Approved		uc010oxm.1	P0DMP2	OTTHUMG00000041442		1.37:g.144011657_144011658insG														0	915	+									RNA	INS	ENST00000467933.1	37																																																																																						0.520	SRGAP2B-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352915.1	NM_001271870		3	4						3	4	---	---	---	---
LINC00869	57234	broad.mit.edu	37	1	149285546	149285547	+	lincRNA	INS	-	-	A	rs144216017|rs386368278|rs386368277|rs386368276		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr1:149285546_149285547insA	ENST00000433084.1	+	0	0				RNU1-143P_ENST00000516296.1_RNA|RP11-403I13.7_ENST00000424684.1_lincRNA																							ttctgtctctcaaaaaaaaTGC	0.525																																						ENST00000424684.1																			0																																																			0							g.chr1:149285546_149285547insA																													1.37:g.149285554_149285554dupA								NR_046136.1|NR_046138.1|NR_046139.1						0	254	+									RNA	INS	ENST00000433084.1	37																																																																																						0.525	RP11-403I13.8-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000099633.1			4	5						4	5	---	---	---	---
LOC101927533	101927533	broad.mit.edu	37	2	65894933	65894933	+	lincRNA	DEL	A	A	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:65894933delA	ENST00000377977.3	+	0	862				AC007389.4_ENST00000583614.1_RNA																							TCAGAGGTTTAAAAAAAAAAA	0.517																																						ENST00000377977.3																			0																																																			0							g.chr2:65894933delA																													2.37:g.65894933delA														0	862	+									RNA	DEL	ENST00000377977.3	37																																																																																						0.517	AC074391.1-010	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000470883.1			4	8						4	8	---	---	---	---
AC079305.8	0	broad.mit.edu	37	2	178063463	178063463	+	RNA	DEL	T	T	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:178063463delT	ENST00000455416.1	-	0	166																											ATTCAATTGCttttttttttt	0.577																																						ENST00000455416.1																			0																																																			0							g.chr2:178063463delT																													2.37:g.178063463delT														0	166	-									RNA	DEL	ENST00000455416.1	37																																																																																						0.577	AC079305.8-001	KNOWN	not_organism_supported|basic	antisense	antisense	OTTHUMT00000333896.1			3	5						3	5	---	---	---	---
AC007563.5	0	broad.mit.edu	37	2	217578817	217578817	+	RNA	DEL	C	C	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:217578817delC	ENST00000447289.1	+	0	388																											TATGACAGCACCCCCACTGAC	0.458																																						ENST00000447289.1																			0																																																			0							g.chr2:217578817delC																													2.37:g.217578817delC														0	388	+									RNA	DEL	ENST00000447289.1	37																																																																																						0.458	AC007563.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000339423.2			2	4						2	4	---	---	---	---
LINC01237	101927289	broad.mit.edu	37	2	242851021	242851021	+	RNA	DEL	T	T	-	rs36021748	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:242851021delT	ENST00000429947.1	+	0	258				AC131097.3_ENST00000430555.1_RNA|AC131097.3_ENST00000415434.1_RNA|AC131097.3_ENST00000457686.1_RNA																							gacctcagacttccggtcccc	0.587													TT|TT|T|deletion	1204	0.240415	0.025	0.2349	5008	,	,		19218	0.1974		0.3887	False		,,,				2504	0.4274					ENST00000430555.1																			0																																																			0							g.chr2:242851021delT																													2.37:g.242851021delT						AC131097.3_ENST00000429947.1_RNA|AC131097.3_ENST00000457686.1_RNA|AC131097.3_ENST00000415434.1_RNA								0	192	+									RNA	DEL	ENST00000429947.1	37																																																																																						0.587	AC131097.3-001	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000322316.1			4	2						4	2	---	---	---	---
LINC01237	101927289	broad.mit.edu	37	2	242980560	242980560	+	RNA	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr2:242980560delG	ENST00000415434.1	+	0	310																											GCCACTCTGTGGGGAGTCACG	0.488																																						ENST00000415434.1																			0																																																			0							g.chr2:242980560delG																													2.37:g.242980560delG														0	310	+									RNA	DEL	ENST00000415434.1	37																																																																																						0.488	AC131097.3-003	KNOWN	basic	antisense	antisense	OTTHUMT00000322318.1			2	4						2	4	---	---	---	---
RP11-260O18.1	0	broad.mit.edu	37	3	82386024	82386025	+	lincRNA	DEL	GT	GT	-	rs368165386		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr3:82386024_82386025delGT	ENST00000470263.1	+	0	472																											gttttgcacggtgtgtgtgtgt	0.416																																						ENST00000470263.1																			0																																																			0							g.chr3:82386024_82386025delGT																													3.37:g.82386034_82386035delGT														0	472	+									RNA	DEL	ENST00000470263.1	37																																																																																						0.416	RP11-260O18.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352629.1			2	4						2	4	---	---	---	---
CUL9	23113	broad.mit.edu	37	6	43155158	43155159	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr6:43155158_43155159delTT	ENST00000252050.4	+	6	1646_1647	c.1562_1563delTT	c.(1561-1563)cttfs	p.L521fs	CUL9_ENST00000354495.3_Intron|CUL9_ENST00000372647.2_Frame_Shift_Del_p.L521fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	521					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTCCAGAATCTTTGGAAGAACC	0.45																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(1561-1563)cfs		cullin 9																																				SO:0001589	frameshift_variant	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43155158_43155159delTT	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.1562_1563delTT	6.37:g.43155158_43155159delTT	ENSP00000252050:p.Leu521fs					CUL9_ENST00000372647.2_Frame_Shift_Del_p.L521fs|CUL9_ENST00000354495.3_Intron	p.L521fs	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			6	1646_1647	+			521					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Frame_Shift_Del	DEL	ENST00000252050.4	37	c.1562_1563delTT	CCDS4890.1																																																																																				0.450	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		62	64						62	64	---	---	---	---
ZAN	7455	broad.mit.edu	37	7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-	rs372773235|rs146191724	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr7:100384030_100384033delTTGT	ENST00000348028.3	+	0	7143				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505														1390	0.277556	0.3434	0.2406	5008	,	,		19485	0.0774		0.4602	False		,,,				2504	0.2331					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)																																						7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100384030_100384033delTTGT	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100384038_100384041delTTGT						ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	7124	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	DEL	ENST00000348028.3	37																																																																																						0.505	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		4	2						4	2	---	---	---	---
LINC01410	103352539	broad.mit.edu	37	9	66463991	66463992	+	lincRNA	DEL	TT	TT	-	rs146846716		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr9:66463991_66463992delTT	ENST00000424345.1	+	0	224																											AGCCATTCTCTTTTCATTCCCC	0.446																																						ENST00000424345.1																			0																																																			0							g.chr9:66463991_66463992delTT																													9.37:g.66463993_66463994delTT														0	224	+									RNA	DEL	ENST00000424345.1	37																																																																																						0.446	RP11-262H14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000128851.1			2	4						2	4	---	---	---	---
FLJ12825	440101	broad.mit.edu	37	12	54503718	54503718	+	lincRNA	DEL	G	G	-	rs79863277|rs59940444	byFrequency	TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:54503718delG	ENST00000515617.1	+	0	311					NR_026655.1																						GGTAGTCCCCGCCGTGGTTCT	0.607																																						ENST00000515617.1																			0																																																			0							g.chr12:54503718delG																													12.37:g.54503718delG								NR_026655.1						0	311	+									RNA	DEL	ENST00000515617.1	37																																																																																						0.607	RP11-834C11.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000358961.1			2	4						2	4	---	---	---	---
LINC01498	102723562	broad.mit.edu	37	12	108870050	108870050	+	RNA	DEL	C	C	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr12:108870050delC	ENST00000502160.2	-	0	1196																											CATCCCCCTGCCCCCCAATAA	0.572																																						ENST00000502160.2																			0																																																			0							g.chr12:108870050delC																													12.37:g.108870050delC														0	1196	-									RNA	DEL	ENST00000502160.2	37																																																																																						0.572	RP11-13G14.4-001	KNOWN	basic	antisense	antisense	OTTHUMT00000404872.1			2	4						2	4	---	---	---	---
NOVA1	4857	broad.mit.edu	37	14	26941517	26941517	+	Frame_Shift_Del	DEL	A	A	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr14:26941517delA	ENST00000547619.1	-	4	586	c.528delT	c.(526-528)tatfs	p.Y176fs	NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000344429.5_Intron|NOVA1_ENST00000539517.2_Intron			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	0	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGACAGGATGATACTGTACCT	0.438																																						ENST00000547619.1																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(526-528)tafs		neuro-oncological ventral antigen 1							221.0	178.0	193.0					14																	26941517		2203	4300	6503	SO:0001589	frameshift_variant	4857				locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding	g.chr14:26941517delA	U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000547619.1:c.528delT	14.37:g.26941517delA	ENSP00000448157:p.Tyr176fs					NOVA1_ENST00000344429.5_Intron|NOVA1_ENST00000267422.7_Intron|NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000465357.2_Intron	p.Y176fs			P51513	NOVA1_HUMAN		GBM - Glioblastoma multiforme(265;0.0135)	4	586	-			0			KH 2.		A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Frame_Shift_Del	DEL	ENST00000547619.1	37	c.528delT																																																																																					0.438	NOVA1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000408504.1	NM_006491		6	7						6	7	---	---	---	---
RP11-420N3.2	0	broad.mit.edu	37	16	5578597	5578598	+	RNA	INS	-	-	TC			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:5578597_5578598insTC	ENST00000569895.1	+	0	343																											CCCCAATTCATTCTCTCTCTCT	0.475																																						ENST00000569895.1																			0																																																			0							g.chr16:5578597_5578598insTC																													16.37:g.5578606_5578607dupTC														0	343	+									RNA	INS	ENST00000569895.1	37																																																																																						0.475	RP11-420N3.2-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000435404.2			2	4						2	4	---	---	---	---
SRCAP	10847	broad.mit.edu	37	16	30736370	30736371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr16:30736370_30736371insC	ENST00000262518.4	+	25	6010_6011	c.5625_5626insC	c.(5626-5628)cccfs	p.P1876fs	SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.P1814fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.P1718fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1876	Pro-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CTCGACGCCAGCCCCCCCCACC	0.569																																						ENST00000262518.4																			0				NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136						c.(5623-5628)caccccfs		Snf2-related CREBBP activator protein																																				SO:0001589	frameshift_variant	10847				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	g.chr16:30736370_30736371insC	AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.5633dupC	16.37:g.30736378_30736378dupC	ENSP00000262518:p.Pro1876fs					SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.HP1813fs|SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.HP1717fs	p.HP1875fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Colorectal(24;0.198)		25	6010_6011	+			1875			Pro-rich.		B0JZA6|O15026|Q7Z744|Q9Y5L9	Frame_Shift_Ins	INS	ENST00000262518.4	37	c.5625_5626insC	CCDS10689.2																																																																																				0.569	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662		7	156						7	156	---	---	---	---
ABHD17A	81926	broad.mit.edu	37	19	1877579	1877579	+	Frame_Shift_Del	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:1877579delG	ENST00000292577.7	-	4	1068	c.635delC	c.(634-636)tcgfs	p.S212fs	CTB-31O20.2_ENST00000565797.1_lincRNA|CTB-31O20.9_ENST00000592720.1_lincRNA|ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.S263fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.R182fs	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	212						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)										GGTGAGCGGCGAGTGCAGCAC	0.692																																						ENST00000292577.7																			0											c.(634-636)tgfs		abhydrolase domain containing 17A			,	17,4059		1,15,2022	11.0	14.0	13.0		,	-8.5	0.7	19		13	21,7893		1,19,3937	no	frameshift,frameshift	FAM108A1	NM_031213.3,NM_001130111.1	,	2,34,5959	A1A1,A1R,RR		0.2654,0.4171,0.3169	,	,	1877579	38,11952	2125	4131	6256	SO:0001589	frameshift_variant	81926							g.chr19:1877579delG	BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.635delC	19.37:g.1877579delG	ENSP00000292577:p.Ser212fs					ABHD17A_ENST00000250974.9_Frame_Shift_Del_p.S263fs|ABHD17A_ENST00000590661.1_Frame_Shift_Del_p.R182fs	p.S212fs	NM_001130111.1	NP_001123583.1					4	1068	-								A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Frame_Shift_Del	DEL	ENST00000292577.7	37	c.635delC	CCDS45902.1																																																																																				0.692	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415556.2	NM_031213		7	37						7	37	---	---	---	---
LOC284395	284395	broad.mit.edu	37	19	29859695	29859695	+	RNA	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr19:29859695delG	ENST00000582581.1	-	0	2030					NR_040029.1																						aaaaaTGACAGGGTGGCCCAA	0.537																																						ENST00000582581.1																			0																																																			0							g.chr19:29859695delG																													19.37:g.29859695delG								NR_040029.1						0	2030	-									RNA	DEL	ENST00000582581.1	37																																																																																						0.537	CTC-525D6.1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000444111.1			2	4						2	4	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11061894	11061894	+	RNA	DEL	G	G	-	rs56157850		TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr21:11061894delG	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAAAGGAAAAGTTATGTATAT	0.318																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11061894delG	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11061894delG												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	DEL	ENST00000470054.1	37																																																																																						0.318	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	5						5	5	---	---	---	---
LOC284930	284930	broad.mit.edu	37	22	48109485	48109485	+	lincRNA	DEL	G	G	-			TCGA-N5-A4RJ-01A-11D-A28R-08	TCGA-N5-A4RJ-10A-01D-A28U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39f3072d-c24a-4583-95bc-4967588e6d82	623428f9-997a-484d-98e4-f6ef172d75a3	g.chr22:48109485delG	ENST00000423737.1	+	0	982																											TTCCAGATCTGGGGGTGGTGG	0.522																																						ENST00000423737.1																			0																																																			0							g.chr22:48109485delG																													22.37:g.48109485delG														0	982	+									RNA	DEL	ENST00000423737.1	37																																																																																						0.522	RP11-191L9.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000317556.1			2	4						2	4	---	---	---	---
