#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
FAM21C	253725	broad.mit.edu	37	10	46248088	46248088	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:46248088G>A	ENST00000336378.4	+	12	1174	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S|FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	352					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.S351S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGACTTCTCGCCATTTGGCT	0.532																																						ENST00000336378.4																			1	Substitution - coding silent(1)	p.S351S(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1054-1056)tcG>tcA		family with sequence similarity 21, member C							79.0	90.0	87.0					10																	46248088		1892	4104	5996	SO:0001819	synonymous_variant	253725							g.chr10:46248088G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1056G>A	10.37:g.46248088G>A						FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S	p.S352S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			12	1174	+			352					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37	c.1056G>A																																																																																					0.532	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				76	117	0	0	0	1	0	76	117				
RPL5	6125	broad.mit.edu	37	1	93300426	93300426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:93300426A>G	ENST00000370321.3	+	4	370	c.280A>G	c.(280-282)Aat>Gat	p.N94D	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCCTGACAAATTATGCTGC	0.453																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(280-282)Aat>Gat		ribosomal protein L5							112.0	111.0	111.0					1																	93300426		2203	4298	6501	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300426A>G	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.280A>G	1.37:g.93300426A>G	ENSP00000359345:p.Asn94Asp						p.N94D	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	370	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	94					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.280A>G	CCDS741.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.925950	0.92319	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.69685	-0.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	H	0.98525	4.255	0.80722	D	1	B	0.33583	0.418	P	0.53146	0.719	D	0.88153	0.2852	10	0.66056	D	0.02	.	14.9846	0.71336	1.0:0.0:0.0:0.0	.	94	P46777	RL5_HUMAN	D	44;94;44	ENSP00000359345:N94D	ENSP00000359338:N44D	N	+	1	0	RPL5	93073014	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.321000	0.96353	1.944000	0.56390	0.533000	0.62120	AAT		0.453	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	155	0	0	0	1	0	5	155				
PKNOX1	5316	broad.mit.edu	37	21	44427675	44427675	+	Silent	SNP	T	T	C	rs374571145		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:44427675T>C	ENST00000291547.5	+	3	337	c.126T>C	c.(124-126)ccT>ccC	p.P42P	PKNOX1_ENST00000432907.2_5'UTR	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	42					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GAGTGAGCCCTCCCCCTGTGG	0.522																																						ENST00000291547.5																			0				cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						c.(124-126)ccT>ccC		PBX/knotted 1 homeobox 1		T		0,4406		0,0,2203	119.0	117.0	118.0		126	-3.2	0.9	21		118	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	PKNOX1	NM_004571.3		0,1,6502	CC,CT,TT		0.0116,0.0,0.0077		42/437	44427675	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5316						sequence-specific DNA binding	g.chr21:44427675T>C		CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.126T>C	21.37:g.44427675T>C						PKNOX1_ENST00000432907.2_5'UTR	p.P42P	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN			3	337	+			42					O00528|Q8IWT7	Silent	SNP	ENST00000291547.5	37	c.126T>C	CCDS13692.1																																																																																				0.522	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195520.3			3	151	0	0	0	1	0	3	151				
C7orf43	55262	broad.mit.edu	37	7	99753343	99753343	+	Missense_Mutation	SNP	G	G	A	rs372793432		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:99753343G>A	ENST00000316937.3	-	9	1531	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	449										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGTGAGCGCGCTGCCCTT	0.657																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1345-1347)gCg>gTg		chromosome 7 open reading frame 43		G	VAL/ALA	0,4406		0,0,2203	81.0	83.0	82.0		1346	5.7	0.8	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf43	NM_018275.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	449/581	99753343	1,13005	2203	4300	6503	SO:0001583	missense	55262							g.chr7:99753343G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1346C>T	7.37:g.99753343G>A	ENSP00000324741:p.Ala449Val					C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V	p.A449V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			9	1531	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		449					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.1346C>T	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986149	0.93044	0.0	1.16E-4	ENSG00000146826	ENST00000394035;ENST00000457641;ENST00000316937;ENST00000275726;ENST00000419841	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.66	5.66	0.87406	.	0.064960	0.64402	D	0.000009	T	0.19087	0.0458	N	0.08118	0	0.43211	D	0.99507	P;D;D;P	0.56287	0.514;0.975;0.975;0.947	B;P;P;B	0.46299	0.122;0.511;0.511;0.196	T	0.05289	-1.0894	10	0.72032	D	0.01	-15.6726	15.235	0.73422	0.0:0.0:1.0:0.0	.	217;71;75;449	E9PFF9;Q8WVR3-2;Q8WVR3-3;Q8WVR3	.;.;.;CG043_HUMAN	V	25;180;449;71;217	ENSP00000377600:A25V;ENSP00000396432:A180V;ENSP00000324741:A449V;ENSP00000406326:A217V	ENSP00000275726:A71V	A	-	2	0	C7orf43	99591279	1.000000	0.71417	0.806000	0.32338	0.960000	0.62799	5.071000	0.64382	2.667000	0.90743	0.561000	0.74099	GCG		0.657	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		4	88	0	0	0	1	0	4	88				
CCDC57	284001	broad.mit.edu	37	17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A	rs201336748		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr17:80121090G>A	ENST00000389641.4	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001					ENST00000389641.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(2026-2028)Cga>Tga		coiled-coil domain containing 57		G	stop/ARG	4,4174		0,4,2085	147.0	156.0	153.0		2026	0.6	0.0	17		153	0,8406		0,0,4203	yes	stop-gained	CCDC57	NM_198082.2		0,4,6288	AA,AG,GG		0.0,0.0957,0.0318		676/916	80121090	4,12580	2089	4203	6292	SO:0001587	stop_gained	284001							g.chr17:80121090G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2026C>T	17.37:g.80121090G>A	ENSP00000374292:p.Arg676*					CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*|CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*	p.R676*			Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		13	2062	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		676					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	ENST00000389641.4	37	c.2026C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259674|4.259674	0.80246|0.80246	9.57E-4|9.57E-4	0.0|0.0	ENSG00000176155|ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343|ENST00000419322	.|.	.|.	.|.	2.86|2.86	0.581|0.581	0.17407|0.17407	.|.	0.967105|.	0.08401|.	N|.	0.951395|.	.|T	.|0.38772	.|0.1053	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33369	.|-0.9871	.|5	0.02654|0.45353	T|T	1|0.12	-2.432|-2.432	8.407|8.407	0.32621|0.32621	0.0:0.4809:0.5191:0.0|0.0:0.4809:0.5191:0.0	.|.	.|.	.|.	.|.	X|M	676;676;184;676|21	.|.	ENSP00000315967:R184X|ENSP00000408124:T21M	R|T	-|-	1|2	2|0	CCDC57|CCDC57	77714379|77714379	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.143000|0.143000	0.16115|0.16115	0.198000|0.198000	0.20407|0.20407	0.557000|0.557000	0.71058|0.71058	CGA|ACG		0.617	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		75	124	0	0	0	1	0	75	124				
MTA2	9219	broad.mit.edu	37	11	62361465	62361465	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:62361465C>G	ENST00000278823.2	-	18	2278	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|TUT1_ENST00000308436.7_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	630					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGGGTCGGCGAGCAGCTCG	0.582											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1888-1890)cGc>cCc		metastasis associated 1 family, member 2							116.0	104.0	108.0					11																	62361465		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361465C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1889G>C	11.37:g.62361465C>G	ENSP00000278823:p.Arg630Pro		OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1060	MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P	p.R630P	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			18	2278	-			630					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1889G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619825	0.87460	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.69561	0.22;-0.41;-0.41	5.87	5.87	0.94306	.	0.121387	0.53938	D	0.000044	T	0.80177	0.4575	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.80781	-0.1229	10	0.72032	D	0.01	-15.7564	17.7165	0.88338	0.0:1.0:0.0:0.0	.	630	O94776	MTA2_HUMAN	P	630;457;457	ENSP00000278823:R630P;ENSP00000431346:R457P;ENSP00000431797:R457P	ENSP00000278823:R630P	R	-	2	0	MTA2	62118041	1.000000	0.71417	0.955000	0.39395	0.973000	0.67179	6.597000	0.74118	2.778000	0.95560	0.650000	0.86243	CGC		0.582	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		36	57	0	0	0	1	0	36	57				
MCF2	4168	broad.mit.edu	37	X	138678882	138678882	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:138678882G>A	ENST00000370576.4	-	19	2312	c.2103C>T	c.(2101-2103)agC>agT	p.S701S	MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000520602.1_Silent_p.S761S|MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000519895.1_Silent_p.S777S|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Silent_p.S701S	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	701	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTATCCAAACGCTGAATCCAC	0.388																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2281-2283)agC>agT		MCF.2 cell line derived transforming sequence							196.0	167.0	177.0					X																	138678882		2203	4299	6502	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138678882G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2103C>T	X.37:g.138678882G>A						MCF2_ENST00000370573.4_Silent_p.S701S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000370576.4_Silent_p.S701S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000414978.1_Silent_p.S761S	p.S761S			P10911	MCF2_HUMAN			22	2568	-	Acute lymphoblastic leukemia(192;0.000127)		701			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.2283C>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	g	7.924	0.739247	0.15642	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.78	-6.83	0.01693	.	.	.	.	.	T	0.64360	0.2591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67711	-0.5600	4	.	.	.	.	16.6015	0.84817	0.4345:0.0:0.5655:0.0	.	.	.	.	C	205	.	.	R	-	1	0	MCF2	138506548	0.993000	0.37304	0.273000	0.24645	0.876000	0.50452	0.476000	0.22180	-2.073000	0.00878	-1.272000	0.01410	CGT		0.388	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	53	0	0	0	1	0	7	53				
S100A3	6274	broad.mit.edu	37	1	153520902	153520902	+	Silent	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:153520902T>G	ENST00000368713.3	-	2	256	c.60A>C	c.(58-60)gcA>gcC	p.A20A	S100A4_ENST00000368716.4_5'Flank|S100A3_ENST00000368712.1_Silent_p.A20A|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	20	EF-hand 1.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCGCCCTGCGTATTCCT	0.612																																						ENST00000368713.3																			0				breast(1)|liver(1)|lung(1)	3						c.(58-60)gcA>gcC		S100 calcium binding protein A3							153.0	147.0	149.0					1																	153520902		2203	4300	6503	SO:0001819	synonymous_variant	6274						calcium ion binding|protein binding	g.chr1:153520902T>G	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.60A>C	1.37:g.153520902T>G						S100A3_ENST00000368712.1_Silent_p.A20A|S100A4_ENST00000368714.1_Intron	p.A20A	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	256	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		20			EF-hand 1.		D3DV51|Q6FGE4	Silent	SNP	ENST00000368713.3	37	c.60A>C	CCDS1043.1																																																																																				0.612	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		15	189	0	0	0	1	0	15	189				
AFAP1	60312	broad.mit.edu	37	4	7811388	7811388	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:7811388G>C	ENST00000360265.4	-	8	1241	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000420658.1_Missense_Mutation_p.S336C			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCGTCTGTGGACGGCTTTTT	0.507																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1006-1008)tCc>tGc		actin filament associated protein 1							154.0	126.0	135.0					4																	7811388		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7811388G>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1007C>G	4.37:g.7811388G>C	ENSP00000353402:p.Ser336Cys					AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C	p.S336C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			9	1279	-			336					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1007C>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553412	0.65425	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.26	4.38	0.52667	.	0.137998	0.51477	D	0.000094	T	0.30947	0.0781	L	0.50333	1.59	0.52099	D	0.999948	D;P	0.89917	1.0;0.604	D;B	0.87578	0.998;0.323	T	0.01635	-1.1307	10	0.46703	T	0.11	-25.6003	14.2861	0.66247	0.0:0.2836:0.7164:0.0	.	336;336	E9PDT7;Q8N556	.;AFAP1_HUMAN	C	336	ENSP00000353402:S336C;ENSP00000410689:S336C;ENSP00000351245:S336C;ENSP00000371983:S336C	ENSP00000351245:S336C	S	-	2	0	AFAP1	7862288	1.000000	0.71417	0.871000	0.34182	0.759000	0.43091	6.785000	0.75089	1.285000	0.44548	0.655000	0.94253	TCC		0.507	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		10	22	0	0	0	1	0	10	22				
GRIA1	2890	broad.mit.edu	37	5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2563-2565)Cgg>Tgg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64.0	67.0	66.0					5																	153190627		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190627C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2563C>T	5.37:g.153190627C>T	ENSP00000285900:p.Arg855Trp					GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W	p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2906	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	855					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2563C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033868	0.75504	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.14640	2.56;2.49;2.56;2.49;2.5;2.56;2.56	5.16	3.33	0.38152	.	0.057658	0.64402	D	0.000001	T	0.28995	0.0720	L	0.50333	1.59	0.53005	D	0.999968	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	P;P;D;P;D	0.67725	0.642;0.642;0.915;0.804;0.953	T	0.01087	-1.1456	10	0.87932	D	0	.	13.146	0.59461	0.2919:0.7081:0.0:0.0	.	865;865;775;855;855	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	W	855;855;775;855;788;786;865;865	ENSP00000285900:R855W;ENSP00000427920:R775W;ENSP00000339343:R855W;ENSP00000427864:R788W;ENSP00000442108:R786W;ENSP00000428994:R865W;ENSP00000415569:R865W	ENSP00000285900:R855W	R	+	1	2	GRIA1	153170820	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.503000	0.22610	0.525000	0.28522	-0.181000	0.13052	CGG		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			20	34	0	0	0	1	0	20	34				
PNPLA6	10908	broad.mit.edu	37	19	7624001	7624001	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:7624001C>G	ENST00000221249.6	+	31	3980	c.3549C>G	c.(3547-3549)ttC>ttG	p.F1183L	PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1222					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGACTGCTTCAAGACCATGG	0.567																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3547-3549)ttC>ttG		patatin-like phospholipase domain containing 6							73.0	56.0	62.0					19																	7624001		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7624001C>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3549C>G	19.37:g.7624001C>G	ENSP00000221249:p.Phe1183Leu					PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L	p.F1183L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			31	3980	+			1222					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3549C>G	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738736	0.89573	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.97	4.97	0.65823	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.80616	2.505	0.58432	D	0.999996	P;P;D;P	0.54964	0.948;0.859;0.969;0.94	B;P;P;P	0.52031	0.387;0.511;0.591;0.688	D	0.85778	0.1359	10	0.87932	D	0	-37.2483	15.7601	0.78073	0.0:1.0:0.0:0.0	.	1222;1156;1221;1183	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	1183;1156;1231;1183	ENSP00000221249:F1183L;ENSP00000443323:F1156L;ENSP00000407509:F1231L;ENSP00000394348:F1183L	ENSP00000221249:F1183L	F	+	3	2	PNPLA6	7530001	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.037000	0.41174	2.317000	0.78254	0.561000	0.74099	TTC		0.567	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		21	37	0	0	0	1	0	21	37				
FGFR2	2263	broad.mit.edu	37	10	123239400	123239400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:123239400G>T	ENST00000358487.5	-	18	2709	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T	FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000357555.5_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	813					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTTATGTGTGGATACTGAGGA	0.478		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(2437-2439)Cca>Aca		fibroblast growth factor receptor 2	Palifermin(DB00039)						230.0	180.0	197.0					10																	123239400		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123239400G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2437C>A	10.37:g.123239400G>T	ENSP00000351276:p.Pro813Thr					FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T	p.P813T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	18	2709	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	813					B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.2437C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612299	0.46631	.	.	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416	T;T;T;T;T;T;T	0.78924	-1.22;-1.17;-1.15;-1.22;-1.15;-1.18;-1.17	6.17	6.17	0.99709	.	0.284303	0.33875	N	0.004468	T	0.79805	0.4509	L	0.57536	1.79	0.80722	D	1	B;B;B;B;B	0.24317	0.034;0.101;0.057;0.001;0.081	B;B;B;B;B	0.31495	0.038;0.082;0.131;0.004;0.062	T	0.74864	-0.3519	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	830;812;696;813;716	D3DRD5;P21802-18;P21802-20;P21802;D3DRD3	.;.;.;FGFR2_HUMAN;.	T	814;701;813;696;697;699;811;814	ENSP00000358057:P701T;ENSP00000351276:P813T;ENSP00000348559:P696T;ENSP00000358056:P697T;ENSP00000358055:P699T;ENSP00000263451:P811T;ENSP00000410294:P814T	ENSP00000263451:P811T	P	-	1	0	FGFR2	123229390	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.664000	0.74437	2.941000	0.99782	0.655000	0.94253	CCA		0.478	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		9	79	1	0	2.17888e-05	1	2.46308e-05	9	79				
NISCH	11188	broad.mit.edu	37	3	52522494	52522494	+	Missense_Mutation	SNP	C	C	A	rs200965700		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:52522494C>A	ENST00000479054.1	+	17	3058	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S	NISCH_ENST00000345716.4_Missense_Mutation_p.R996S			Q9Y2I1	NISCH_HUMAN	nischarin	996					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCACTTCCTGCGCGTCTACAA	0.647																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2986-2988)Cgc>Agc		nischarin							61.0	60.0	60.0					3																	52522494		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522494C>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2986C>A	3.37:g.52522494C>A	ENSP00000418232:p.Arg996Ser					NISCH_ENST00000479054.1_Missense_Mutation_p.R996S	p.R996S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	3120	+			996					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2986C>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409455	0.42715	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.60672	0.17;0.17	5.21	4.24	0.50183	.	0.263109	0.37577	N	0.002040	T	0.34077	0.0885	N	0.14661	0.345	0.31926	N	0.612828	P	0.35714	0.517	B	0.30716	0.119	T	0.44937	-0.9295	10	0.41790	T	0.15	-24.0172	7.952	0.30021	0.2231:0.6846:0.0:0.0923	.	996	Q9Y2I1	NISCH_HUMAN	S	996;996;340	ENSP00000418232:R996S;ENSP00000339958:R996S	ENSP00000339958:R996S	R	+	1	0	NISCH	52497534	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	1.886000	0.39688	2.434000	0.82447	0.462000	0.41574	CGC		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		3	86	1	0	1	1	1	3	86				
ARHGAP22	58504	broad.mit.edu	37	10	49791063	49791063	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:49791063G>A	ENST00000249601.4	-	2	465	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(169-171)Cgc>Tgc		Rho GTPase activating protein 22							143.0	132.0	135.0					10																	49791063		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791063G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.169C>T	10.37:g.49791063G>A	ENSP00000249601:p.Arg57Cys					ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C|ARHGAP22_ENST00000491108.1_5'UTR	p.R57C	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			2	465	-			57			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.169C>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552177	0.86127	.	.	ENSG00000128805	ENST00000249601;ENST00000435790;ENST00000417912	T;T;T	0.39406	1.08;1.08;1.08	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.74816	0.3766	H	0.96943	3.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82737	-0.0309	10	0.87932	D	0	.	12.5575	0.56263	0.0:0.0:0.8336:0.1664	.	63;57;57;57	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;.;RHG22_HUMAN	C	57;63;57	ENSP00000249601:R57C;ENSP00000416701:R63C;ENSP00000412461:R57C	ENSP00000249601:R57C	R	-	1	0	ARHGAP22	49461069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.417000	0.80156	2.486000	0.83907	0.655000	0.94253	CGC		0.612	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		93	100	0	0	0	1	0	93	100				
EIF4G2	1982	broad.mit.edu	37	11	10821136	10821136	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:10821136G>T	ENST00000526148.1	-	19	2797	c.2287C>A	c.(2287-2289)Cat>Aat	p.H763N	EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCTACATGAAGTTTGGGA	0.363																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2287-2289)Cat>Aat		eukaryotic translation initiation factor 4 gamma, 2							137.0	131.0	133.0					11																	10821136		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821136G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2287C>A	11.37:g.10821136G>T	ENSP00000433664:p.His763Asn					RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N	p.H763N	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2797	-			763			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2287C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622014	0.87460	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.18338	2.22;2.22;2.22;2.23	5.52	5.52	0.82312	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.73598	2.24	0.51482	D	0.999920	D;D	0.67145	0.989;0.996	P;P	0.57101	0.813;0.813	T	0.06481	-1.0824	9	0.37606	T	0.19	-9.3538	19.4476	0.94854	0.0:0.0:1.0:0.0	.	763;836	P78344;B4DZF2	IF4G2_HUMAN;.	N	763;763;763;725;836;111;145	ENSP00000433664:H763N;ENSP00000433371:H763N;ENSP00000340281:H763N;ENSP00000379778:H725N	ENSP00000340281:H763N	H	-	1	0	EIF4G2	10777712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.599000	0.87857	0.563000	0.77884	CAT		0.363	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		5	68	1	0	0.00307968	1	0.00333632	5	68				
RAF1	5894	broad.mit.edu	37	3	12626634	12626634	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:12626634T>C	ENST00000251849.4	-	15	2094	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	552	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATCTCGGTTGTTGATGTGAGA	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1654-1656)aAc>aGc		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						88.0	77.0	81.0					3																	12626634		2203	4300	6503	SO:0001583	missense	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626634T>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1655A>G	3.37:g.12626634T>C	ENSP00000251849:p.Asn552Ser					RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S	p.N552S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			15	2094	-			552			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1655A>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774714	0.31411	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.54	3.14	0.36123	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239499	0.50627	D	0.000102	D	0.93703	0.7988	N	0.04373	-0.215	0.35881	D	0.82892	B;B;B	0.15719	0.014;0.004;0.009	B;B;B	0.25614	0.062;0.013;0.05	D	0.89819	0.3987	10	0.33141	T	0.24	.	8.4182	0.32683	0.0:0.2121:0.0:0.7879	.	471;337;552	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	S	552;572;431;337;471	ENSP00000251849:N552S;ENSP00000401888:N572S;ENSP00000398591:N431S;ENSP00000441186:N337S;ENSP00000443567:N471S	ENSP00000251849:N552S	N	-	2	0	RAF1	12601634	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.127000	0.42035	0.523000	0.28482	0.533000	0.62120	AAC		0.517	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		3	80	0	0	0	1	0	3	80				
PPIG	9360	broad.mit.edu	37	2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:170493494C>T	ENST00000260970.3	+	14	1946	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	576	Arg/Ser-rich (RS domain).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R576*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448																																						ENST00000260970.3																			1	Substitution - Nonsense(1)	p.R576*(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1726-1728)Cga>Tga		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						145.0	138.0	140.0					2																	170493494		2202	4300	6502	SO:0001587	stop_gained	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493494C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1726C>T	2.37:g.170493494C>T	ENSP00000260970:p.Arg576*					PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	p.R576*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	1946	+			576			Arg/Ser-rich (RS domain).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Nonsense_Mutation	SNP	ENST00000260970.3	37	c.1726C>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082793	0.55861	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	.	.	.	5.74	1.39	0.22231	.	0.233426	0.35262	N	0.003325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9424	8.9443	0.35749	0.6327:0.288:0.0:0.0792	.	.	.	.	X	576;561;576	.	ENSP00000260970:R576X	R	+	1	2	PPIG	170201740	0.213000	0.23551	0.999000	0.59377	0.142000	0.21351	0.587000	0.23909	0.323000	0.23307	-0.119000	0.15052	CGA		0.448	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			3	47	0	0	0	1	0	3	47				
EPPIN	57119	broad.mit.edu	37	20	44167989	44167989	+	IGR	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr20:44167989G>C	ENST00000354280.4	-	0	1987				WFDC6_ENST00000600168.1_Missense_Mutation_p.Q20E|WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCAGGTTCCTGGATGTCCCCC	0.502																																						ENST00000600168.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(58-60)Cag>Gag		WAP four-disulfide core domain 6							121.0	107.0	112.0					20																	44167989		2203	4300	6503	SO:0001628	intergenic_variant	140870							g.chr20:44167989G>C	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44167989G>C						WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron	p.Q20E							1	145	-		Myeloproliferative disorder(115;0.0122)						A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	ENST00000354280.4	37	c.58C>G	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840413	0.51057	.	.	ENSG00000243543	ENST00000372670;ENST00000372665	T	0.39997	1.05	3.42	3.42	0.39159	.	.	.	.	.	T	0.49558	0.1564	.	.	.	0.44908	D	0.997921	D	0.58268	0.982	P	0.52554	0.702	T	0.54925	-0.8220	8	0.87932	D	0	.	10.6249	0.45502	0.0:0.0:1.0:0.0	.	20	Q9BQY6-2	.	E	20	ENSP00000361750:Q20E	ENSP00000361750:Q20E	Q	-	1	0	WFDC6	43601403	0.375000	0.25089	0.268000	0.24571	0.009000	0.06853	1.434000	0.34958	2.209000	0.71365	0.455000	0.32223	CAG		0.502	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			37	40	0	0	0	1	0	37	40				
SALL1	6299	broad.mit.edu	37	16	51172768	51172768	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:51172768A>G	ENST00000251020.4	-	2	3398	c.3365T>C	c.(3364-3366)cTg>cCg	p.L1122P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.L1025P|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1122					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGGGAGCAGAACTGGGGA	0.567																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3073-3075)cTg>cCg		spalt-like transcription factor 1							88.0	75.0	79.0					16																	51172768		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172768A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3365T>C	16.37:g.51172768A>G	ENSP00000251020:p.Leu1122Pro					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P	p.L1025P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3505	-		all_cancers(37;0.0322)	1122					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3074T>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831723	0.71258	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07567	3.18;3.19	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01242	-1.1408	10	0.33940	T	0.23	.	15.4691	0.75426	1.0:0.0:0.0:0.0	.	1122	Q9NSC2	SALL1_HUMAN	P	1122;1025;1086	ENSP00000251020:L1122P;ENSP00000407914:L1025P	ENSP00000251020:L1122P	L	-	2	0	SALL1	49730269	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.329000	0.96413	2.046000	0.60703	0.460000	0.39030	CTG		0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	37	0	0	0	1	0	16	37				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.K617K	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	92	0	0	0	1	0	4	92				
YLPM1	56252	broad.mit.edu	37	14	75266297	75266297	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr14:75266297G>A	ENST00000325680.7	+	5	4421	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1238					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGGGTCCGATGCAAGCTT	0.483																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4297-4299)Gat>Aat		YLP motif containing 1							132.0	123.0	126.0					14																	75266297		1946	4146	6092	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75266297G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4297G>A	14.37:g.75266297G>A	ENSP00000324463:p.Asp1433Asn					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N	p.D1433N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4421	+			1238					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.4297G>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675640	0.88445	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.96	5.02	0.67125	.	0.185586	0.37437	N	0.002100	T	0.41650	0.1168	L	0.36672	1.1	0.39719	D	0.971449	P	0.48230	0.907	B	0.37304	0.246	T	0.48525	-0.9028	9	0.49607	T	0.09	-12.4889	15.1719	0.72881	0.0:0.2569:0.743:0.0	.	1433	P49750-4	.	N	1433;1238;1146	.	ENSP00000238571:D1238N	D	+	1	0	YLPM1	74336050	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.031000	0.49728	2.826000	0.97356	0.637000	0.83480	GAT		0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		4	139	0	0	0	1	0	4	139				
ATP8B3	148229	broad.mit.edu	37	19	1789573	1789573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:1789573C>A	ENST00000310127.6	-	23	2870	c.2632G>T	c.(2632-2634)Gct>Tct	p.A878S	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A888S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	878					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGTGCAGCCAGCGGGAGC	0.692																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2662-2664)Gct>Tct		ATPase, aminophospholipid transporter, class I, type 8B, member 3							6.0	8.0	8.0					19																	1789573		1888	4019	5907	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1789573C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2632G>T	19.37:g.1789573C>A	ENSP00000311336:p.Ala878Ser					ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S|ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S	p.A888S			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2895	-		Hepatocellular(1079;0.137)	878					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2662G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322322	0.10900	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58210	0.35;0.49;0.46	2.43	-4.87	0.03123	HAD-like domain (1);	5.433850	0.00616	N	0.000422	T	0.18841	0.0452	N	0.00500	-1.43	0.09310	N	1	B;B	0.18610	0.029;0.01	B;B	0.18561	0.014;0.022	T	0.26849	-1.0091	10	0.62326	D	0.03	.	2.6822	0.05096	0.1272:0.471:0.255:0.1468	.	878;841	O60423;Q7Z485	AT8B3_HUMAN;.	S	878;888;841	ENSP00000311336:A878S;ENSP00000443574:A888S;ENSP00000437115:A841S	ENSP00000311336:A878S	A	-	1	0	ATP8B3	1740573	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.473000	0.02339	-2.084000	0.00866	-1.360000	0.01215	GCT		0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		2	1	1	0	0.0784	1	0.0832	2	1				
GAD2	2572	broad.mit.edu	37	10	26575312	26575312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:26575312C>G	ENST00000376261.3	+	13	1778	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	425					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGCCTCCTACCTCTTTCAGC	0.393																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1273-1275)taC>taG		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						129.0	111.0	117.0					10																	26575312		2203	4300	6503	SO:0001587	stop_gained	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26575312C>G	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1275C>G	10.37:g.26575312C>G	ENSP00000365437:p.Tyr425*					GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			13	1778	+			425					Q9UD87	Nonsense_Mutation	SNP	ENST00000376261.3	37	c.1275C>G	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	38	6.794103	0.97845	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	.	.	.	4.98	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5209	13.1568	0.59522	0.0:0.9228:0.0:0.0772	.	.	.	.	X	425	.	ENSP00000259271:Y425X	Y	+	3	2	GAD2	26615318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.777000	0.55364	1.092000	0.41356	0.655000	0.94253	TAC		0.393	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		29	39	0	0	0	1	0	29	39				
MRPL47	57129	broad.mit.edu	37	3	179320488	179320488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:179320488C>A	ENST00000476781.1	-	2	225	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000259037.3_5'Flank|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	66					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCAAAAAATTCTTCTAGTCCT	0.373																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(196-198)Gaa>Taa		mitochondrial ribosomal protein L47							88.0	96.0	93.0					3																	179320488		2203	4300	6503	SO:0001587	stop_gained	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320488C>A	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.196G>T	3.37:g.179320488C>A	ENSP00000417602:p.Glu66*					MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*	p.E66*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	225	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		66					Q6XRG1|Q8N5D1	Nonsense_Mutation	SNP	ENST00000476781.1	37	c.196G>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.112409	0.97296	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	.	.	.	5.94	5.94	0.96194	.	0.183136	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.849	19.1451	0.93461	0.0:1.0:0.0:0.0	.	.	.	.	X	66;46	.	ENSP00000259038:E46X	E	-	1	0	MRPL47	180803182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.493000	0.66899	2.820000	0.97059	0.650000	0.86243	GAA		0.373	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		27	44	1	0	3.65163e-15	1	4.21966e-15	27	44				
SRGAP1	57522	broad.mit.edu	37	12	64491145	64491145	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:64491145T>G	ENST00000355086.3	+	15	2327	c.1803T>G	c.(1801-1803)atT>atG	p.I601M	SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	601	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACGATCTGATTTCTTGTATCA	0.428																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1801-1803)atT>atG		SLIT-ROBO Rho GTPase activating protein 1							85.0	83.0	84.0					12																	64491145		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491145T>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1803T>G	12.37:g.64491145T>G	ENSP00000347198:p.Ile601Met					SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M	p.I601M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2327	+			601			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1803T>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676014	0.29783	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20463	2.07;2.07;2.07	5.48	5.48	0.80851	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.35436	U	0.003204	T	0.19485	0.0468	L	0.37630	1.12	0.51767	D	0.999934	B;B	0.26445	0.149;0.063	B;B	0.34779	0.189;0.06	T	0.08229	-1.0732	9	.	.	.	.	11.0338	0.47789	0.1387:0.0:0.0:0.8613	.	601;538	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	M	601;578;538	ENSP00000347198:I601M;ENSP00000350480:I578M;ENSP00000437948:I538M	.	I	+	3	3	SRGAP1	62777412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.975000	0.29449	2.206000	0.71126	0.533000	0.62120	ATT		0.428	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			15	29	0	0	0	1	0	15	29				
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		KIAA1217							62.0	63.0	63.0					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C						KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000376452.3_Silent_p.P159P	p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	507	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	63	0	0	0	1	0	3	63				
COL18A1	80781	broad.mit.edu	37	21	46900696	46900696	+	Missense_Mutation	SNP	G	G	A	rs367836626		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr21:46900696G>A	ENST00000359759.4	+	12	2801	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	927	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGGTGAACAGCTCCGACGTC	0.721																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2779-2781)aGc>aAc		collagen, type XVIII, alpha 1		G	ASN/SER,ASN/SER	0,3846		0,0,1923	20.0	26.0	24.0		2075,1535	4.0	0.2	21		24	1,8223		0,1,4111	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	46,46	0,1,6034	AA,AG,GG		0.0122,0.0,0.0083	possibly-damaging,possibly-damaging	692/1520,512/1340	46900696	1,12069	1923	4112	6035	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46900696G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2780G>A	21.37:g.46900696G>A	ENSP00000352798:p.Ser927Asn					COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N	p.S927N			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	12	2801	+			927			Triple-helical region 3 (COL3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2780G>A		.	.	.	.	.	.	.	.	.	.	G	10.99	1.508000	0.27036	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.90900	-2.73;-2.75;-2.62	4.04	4.04	0.47022	.	0.527792	0.18619	N	0.135904	D	0.85279	0.5660	L	0.27053	0.805	0.09310	N	1	P;B;B	0.38711	0.643;0.361;0.241	B;B;B	0.40901	0.343;0.232;0.104	T	0.78471	-0.2191	10	0.44086	T	0.13	.	12.1016	0.53788	0.0:0.0:1.0:0.0	.	927;692;512	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	N	512;512;692;927;927	ENSP00000383191:S512N;ENSP00000347665:S692N;ENSP00000352798:S927N	ENSP00000347665:S692N	S	+	2	0	COL18A1	45725124	0.029000	0.19370	0.238000	0.24106	0.062000	0.15995	1.572000	0.36461	1.985000	0.57927	0.555000	0.69702	AGC		0.721	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			13	17	0	0	0	1	0	13	17				
ERICH3	127254	broad.mit.edu	37	1	75072309	75072309	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:75072309C>T	ENST00000326665.5	-	10	1683	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		489	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCCTGGTCGTCTTCCAAG	0.358																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1465-1467)Gac>Aac		chromosome 1 open reading frame 173							179.0	178.0	178.0					1																	75072309		2202	4299	6501	SO:0001583	missense	127254							g.chr1:75072309C>T																												ENST00000326665.5:c.1465G>A	1.37:g.75072309C>T	ENSP00000322609:p.Asp489Asn					C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA	p.D489N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			10	1683	-			489			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1465G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	7.467	0.645916	0.14451	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.69;2.23	5.15	-1.76	0.08006	.	.	.	.	.	T	0.03651	0.0104	L	0.42245	1.32	0.09310	N	1	B;D	0.53151	0.116;0.958	B;B	0.38954	0.017;0.286	T	0.34725	-0.9817	9	0.30078	T	0.28	-2.4118	4.7357	0.12986	0.328:0.3524:0.0:0.3196	.	292;489	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	N	489;292	ENSP00000322609:D489N;ENSP00000398581:D292N	ENSP00000322609:D489N	D	-	1	0	C1orf173	74844897	0.000000	0.05858	0.010000	0.14722	0.116000	0.19942	-0.173000	0.09854	-0.254000	0.09500	0.655000	0.94253	GAC		0.358	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			32	50	0	0	0	1	0	32	50				
PCDH11Y	83259	broad.mit.edu	37	Y	4968733	4968733	+	Silent	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrY:4968733C>T	ENST00000333703.4	+	5	3594	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1038					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGTGTCCGTACACACCA	0.403																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3079-3081)tcC>tcT		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968733C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.3081C>T	Y.37:g.4968733C>T						PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S	p.S1027S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	3594	+			1038					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.3081C>T	CCDS14776.1																																																																																				0.403	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		4	67	0	0	0	1	0	4	67				
ILKAP	80895	broad.mit.edu	37	2	239096826	239096826	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:239096826G>A	ENST00000254654.3	-	5	546	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	124	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GATGACGTGGGCATCCTGCAT	0.542																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(370-372)gCc>gTc		integrin-linked kinase-associated serine/threonine phosphatase							141.0	99.0	113.0					2																	239096826		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239096826G>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.371C>T	2.37:g.239096826G>A	ENSP00000254654:p.Ala124Val						p.A124V	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	5	546	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	124			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.371C>T	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213390	0.95069	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.11277	2.79;2.79	5.84	5.84	0.93424	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.72479	2.2	0.80722	D	1	B	0.34103	0.437	P	0.46299	0.511	T	0.00638	-1.1632	10	0.87932	D	0	.	18.9061	0.92462	0.0:0.0:1.0:0.0	.	124	Q9H0C8	ILKAP_HUMAN	V	124;122	ENSP00000254654:A124V;ENSP00000395301:A122V	ENSP00000254654:A124V	A	-	2	0	ILKAP	238761565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.657000	0.83745	2.765000	0.95021	0.655000	0.94253	GCC		0.542	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		21	18	0	0	0	1	0	21	18				
BAG6	7917	broad.mit.edu	37	6	31614196	31614196	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:31614196G>A	ENST00000375964.6	-	8	1224	c.911C>T	c.(910-912)gCt>gTt	p.A304V	BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V|BAG6_ENST00000404765.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	304	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGTGGTGGCAGCAGCACCCAG	0.572																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(892-894)gCt>gTt		BCL2-associated athanogene 6							118.0	111.0	114.0					6																	31614196		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614196G>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.911C>T	6.37:g.31614196G>A	ENSP00000365131:p.Ala304Val					BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V|BAG6_ENST00000375964.6_Missense_Mutation_p.A304V	p.A298V			P46379	BAG6_HUMAN			8	1182	-			304			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.893C>T	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724273	0.68959	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080	T;T;T;T;T;T;T	0.56444	1.06;1.01;1.06;1.06;0.48;1.09;0.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.963;0.996	D;D;D;D;D	0.87578	0.992;0.994;0.998;0.966;0.986	T	0.55933	-0.8062	10	0.30854	T	0.27	.	17.6651	0.88201	0.0:0.0:1.0:0.0	.	298;298;298;304;298	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	V	298;304;298;298;298;298;298;298	ENSP00000365143:A298V;ENSP00000365131:A304V;ENSP00000211379:A298V;ENSP00000384494:A298V;ENSP00000402856:A298V;ENSP00000354875:A298V;ENSP00000397978:A298V	ENSP00000211379:A298V	A	-	2	0	BAG6	31722175	1.000000	0.71417	0.387000	0.26183	0.131000	0.20780	7.677000	0.84024	2.470000	0.83445	0.563000	0.77884	GCT		0.572	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		3	73	0	0	0	1	0	3	73				
DLK2	65989	broad.mit.edu	37	6	43418675	43418675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:43418675G>A	ENST00000357338.3	-	6	1454	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S|DLK2_ENST00000372488.3_Missense_Mutation_p.P252S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	252					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTGGGACAGGTAAGACAAGC	0.672																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(754-756)Cct>Tct		delta-like 2 homolog (Drosophila)							56.0	61.0	59.0					6																	43418675		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418675G>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.754C>T	6.37:g.43418675G>A	ENSP00000349893:p.Pro252Ser					DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S	p.P252S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1454	-	all_lung(25;0.00536)		252					B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.754C>T	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352294	0.24512	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.89485	-2.52;-2.47;-2.47;-2.52	4.94	4.94	0.65067	.	0.145360	0.47852	D	0.000205	D	0.88706	0.6509	L	0.29908	0.895	0.47778	D	0.999515	D	0.89917	1.0	D	0.80764	0.994	D	0.86522	0.1816	10	0.25106	T	0.35	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	252	Q6UY11	DLK2_HUMAN	S	246;252;252;246	ENSP00000361563:P246S;ENSP00000361566:P252S;ENSP00000349893:P252S;ENSP00000398906:P246S	ENSP00000349893:P252S	P	-	1	0	DLK2	43526653	0.514000	0.26202	0.667000	0.29798	0.089000	0.18198	1.471000	0.35365	2.454000	0.82982	0.462000	0.41574	CCT		0.672	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		34	60	0	0	0	1	0	34	60				
CNTNAP4	85445	broad.mit.edu	37	16	76532484	76532484	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:76532484T>C	ENST00000476707.1	+	14	2406	c.2267T>C	c.(2266-2268)cTt>cCt	p.L756P	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L752P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	753	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTGGATTGCTTGCTTATAAA	0.393																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2254-2256)cTt>cCt		contactin associated protein-like 4							85.0	78.0	80.0					16																	76532484		1960	4202	6162	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76532484T>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2267T>C	16.37:g.76532484T>C	ENSP00000417628:p.Leu756Pro					CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P	p.L752P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			16	2640	+			753			Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2255T>C		.	.	.	.	.	.	.	.	.	.	T	19.34	3.809488	0.70797	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.93	4.93	0.64822	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.37530	N	0.002046	T	0.52025	0.1709	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.986;0.977;0.959	T	0.57843	-0.7741	9	0.87932	D	0	.	14.7099	0.69222	0.0:0.0:0.0:1.0	.	680;756;753	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	P	752;704;680;756	ENSP00000306893:L752P;ENSP00000439733:L704P;ENSP00000418741:L680P;ENSP00000417628:L756P	ENSP00000306893:L752P	L	+	2	0	CNTNAP4	75089985	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	7.806000	0.86020	2.199000	0.70637	0.528000	0.53228	CTT		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		17	19	0	0	0	1	0	17	19				
PAPD7	11044	broad.mit.edu	37	5	6738818	6738818	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:6738818G>A	ENST00000230859.6	+	3	242	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	268	Ala-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGCAGCTTTAGTACAGGTCTT	0.418																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(112-114)aGt>aAt		PAP associated domain containing 7							217.0	225.0	223.0					5																	6738818		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6738818G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.113G>A	5.37:g.6738818G>A	ENSP00000230859:p.Ser38Asn						p.S38N	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			3	242	+			38					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.113G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139746	0.77775	.	.	ENSG00000112941	ENST00000230859	T	0.43688	0.94	4.84	4.84	0.62591	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.60067	1.865	0.48696	D	0.99969	P;P	0.37548	0.599;0.599	B;B	0.42062	0.374;0.27	T	0.19943	-1.0290	10	0.23891	T	0.37	-7.5591	11.7929	0.52080	0.0811:0.0:0.9189:0.0	.	38;38	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	38	ENSP00000230859:S38N	ENSP00000230859:S38N	S	+	2	0	PAPD7	6791818	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	5.835000	0.69368	2.386000	0.81285	0.563000	0.77884	AGT		0.418	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		84	112	0	0	0	1	0	84	112				
LAMB1	3912	broad.mit.edu	37	7	107569561	107569561	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr7:107569561G>A	ENST00000222399.6	-	31	5065	c.4835C>T	c.(4834-4836)gCa>gTa	p.A1612V	LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Missense_Mutation_p.A1636V	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1612	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTGTTTAATTGCCTTCTCTGC	0.418																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4906-4908)gCa>gTa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						305.0	274.0	285.0					7																	107569561		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569561G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4835C>T	7.37:g.107569561G>A	ENSP00000222399:p.Ala1612Val					LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V	p.A1636V			P07942	LAMB1_HUMAN			29	5091	-			1612			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4907C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	36	5.895026	0.97074	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.77750	-1.12;-1.12	5.96	5.96	0.96718	Prefoldin (1);	.	.	.	.	D	0.88698	0.6507	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.988;0.996	D	0.87953	0.2725	9	0.56958	D	0.05	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	1612;1636;909	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	V	1636;1612	ENSP00000377191:A1636V;ENSP00000222399:A1612V	ENSP00000222399:A1612V	A	-	2	0	LAMB1	107356797	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.258000	0.95555	2.832000	0.97577	0.655000	0.94253	GCA		0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	157	0	0	0	1	0	8	157				
TMEM39A	55254	broad.mit.edu	37	3	119176912	119176912	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:119176912T>G	ENST00000319172.5	-	3	709	c.289A>C	c.(289-291)Aca>Cca	p.T97P	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	97						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCACACTGTTTTATAAATG	0.383																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(289-291)Aca>Cca		transmembrane protein 39A							150.0	152.0	151.0					3																	119176912		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119176912T>G	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.289A>C	3.37:g.119176912T>G	ENSP00000326063:p.Thr97Pro					TMEM39A_ENST00000486159.1_5'UTR	p.T97P	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	3	709	-			97					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.289A>C	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678293	0.68042	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993;ENST00000461654	T	0.61742	0.08	4.59	4.59	0.56863	.	0.051780	0.85682	D	0.000000	T	0.59729	0.2215	M	0.74467	2.265	0.80722	D	1	P	0.35208	0.49	B	0.36608	0.229	T	0.66775	-0.5838	10	0.72032	D	0.01	-8.8026	13.5892	0.61951	0.0:0.0:0.0:1.0	.	97	Q9NV64	TM39A_HUMAN	P	97	ENSP00000326063:T97P	ENSP00000326063:T97P	T	-	1	0	TMEM39A	120659602	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.446000	0.80609	2.045000	0.60652	0.460000	0.39030	ACA		0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		4	77	0	0	0	1	0	4	77				
REPS1	85021	broad.mit.edu	37	6	139266690	139266690	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr6:139266690T>C	ENST00000450536.2	-	3	996	c.422A>G	c.(421-423)aAg>aGg	p.K141R	REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000531675.1_5'Flank			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141					receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478																																						ENST00000450536.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19						c.(421-423)aAg>aGg		RALBP1 associated Eps domain containing 1							196.0	180.0	186.0					6																	139266690		2203	4300	6503	SO:0001583	missense	85021					coated pit|plasma membrane	calcium ion binding|SH3 domain binding	g.chr6:139266690T>C		CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.422A>G	6.37:g.139266690T>C	ENSP00000392065:p.Lys141Arg					REPS1_ENST00000258062.5_Missense_Mutation_p.K141R|REPS1_ENST00000415951.2_Missense_Mutation_p.K141R|REPS1_ENST00000367663.4_Missense_Mutation_p.K141R|REPS1_ENST00000409812.2_Missense_Mutation_p.K141R	p.K141R			Q96D71	REPS1_HUMAN		GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)	3	996	-			141					B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Missense_Mutation	SNP	ENST00000450536.2	37	c.422A>G		.	.	.	.	.	.	.	.	.	.	T	19.61	3.859918	0.71834	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	T;T;T;T;T;T	0.33216	1.43;1.43;1.43;1.42;1.42;1.43	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.29783	0.0744	L	0.40543	1.245	0.47441	D	0.999424	D;P;D;P	0.67145	0.996;0.59;0.995;0.455	P;B;P;B	0.60609	0.877;0.081;0.776;0.055	T	0.02909	-1.1095	10	0.25751	T	0.34	-11.9965	14.408	0.67096	0.0:0.0:0.0:1.0	.	141;141;141;141	Q96D71-3;Q96D71-2;Q96D71;E9PMG1	.;.;REPS1_HUMAN;.	R	141;141;127;141;141;141;89	ENSP00000392065:K141R;ENSP00000356635:K141R;ENSP00000434251:K127R;ENSP00000386699:K141R;ENSP00000258062:K141R;ENSP00000397941:K141R	ENSP00000258062:K141R	K	-	2	0	REPS1	139308383	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.421000	0.73353	2.145000	0.66743	0.454000	0.30748	AAG		0.478	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000042447.3			4	188	0	0	0	1	0	4	188				
ZSCAN29	146050	broad.mit.edu	37	15	43654116	43654116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr15:43654116C>A	ENST00000396976.2	-	5	1848	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	572					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAATTATCTTCATTCTCAAAT	0.343																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1714-1716)Gaa>Taa		zinc finger and SCAN domain containing 29							55.0	59.0	58.0					15																	43654116		2201	4299	6500	SO:0001587	stop_gained	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43654116C>A	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1714G>T	15.37:g.43654116C>A	ENSP00000380174:p.Glu572*					ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I	p.E572*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	1848	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	572					B3KVB9|Q32M75|Q32M76|Q8NA40	Nonsense_Mutation	SNP	ENST00000396976.2	37	c.1714G>T	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575646	0.65878	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	.	.	.	4.87	3.88	0.44766	.	0.196476	0.36167	N	0.002757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-14.9061	5.7496	0.18140	0.0:0.7927:0.0:0.2073	.	.	.	.	X	572;183	.	ENSP00000380170:E183X	E	-	1	0	ZSCAN29	41441408	0.887000	0.30362	1.000000	0.80357	0.876000	0.50452	0.878000	0.28126	2.521000	0.84997	0.655000	0.94253	GAA		0.343	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		3	48	1	0	1	1	1	3	48				
ARHGAP4	393	broad.mit.edu	37	X	153187219	153187219	+	Silent	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chrX:153187219C>A	ENST00000350060.5	-	2	152	c.111G>T	c.(109-111)ctG>ctT	p.L37L	ARHGAP4_ENST00000393721.1_Silent_p.L37L|ARHGAP4_ENST00000370028.3_Silent_p.L37L|ARHGAP4_ENST00000537206.1_Silent_p.L14L|ARHGAP4_ENST00000370016.1_Silent_p.L37L	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	37	FCH. {ECO:0000255|PROSITE- ProRule:PRU00083}.				apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCGCCCTGCAGCTCCAGGC	0.687																																						ENST00000370028.3																			0				central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14						c.(109-111)ctG>ctT		Rho GTPase activating protein 4							6.0	7.0	7.0					X																	153187219		2144	4161	6305	SO:0001819	synonymous_variant	393				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chrX:153187219C>A	X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.111G>T	X.37:g.153187219C>A						ARHGAP4_ENST00000393721.1_Silent_p.L37L|ARHGAP4_ENST00000537206.1_Silent_p.L14L|ARHGAP4_ENST00000370016.1_Silent_p.L37L|ARHGAP4_ENST00000350060.5_Silent_p.L37L	p.L37L	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN			2	168	-	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		37			FCH.		Q14144|Q86UY3	Silent	SNP	ENST00000350060.5	37	c.111G>T	CCDS14736.1																																																																																				0.687	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061119.1	NM_001666		4	0	1	0	3.59834e-05	1	3.98114e-05	4	0				
ADAMTS12	81792	broad.mit.edu	37	5	33576475	33576475	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr5:33576475C>A	ENST00000504830.1	-	19	3991	c.3656G>T	c.(3655-3657)gGa>gTa	p.G1219V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1219	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGCAGTCCTTCCATTAC	0.557										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3655-3657)gGa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 12							150.0	142.0	145.0					5																	33576475		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576475C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3656G>T	5.37:g.33576475C>A	ENSP00000422554:p.Gly1219Val	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V	p.G1219V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3991	-			1219			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3656G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795595	0.31777	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60672	0.19;0.17	5.18	4.3	0.51218	.	0.439260	0.24022	N	0.042268	T	0.55625	0.1932	L	0.32530	0.975	0.24770	N	0.992873	D;P	0.53619	0.961;0.935	P;P	0.54372	0.75;0.567	T	0.46978	-0.9152	10	0.40728	T	0.16	.	10.1707	0.42908	0.0:0.848:0.0:0.152	.	1134;1219	P58397-3;P58397	.;ATS12_HUMAN	V	1219;1134	ENSP00000422554:G1219V;ENSP00000344847:G1134V	ENSP00000344847:G1134V	G	-	2	0	ADAMTS12	33612232	0.241000	0.23857	0.309000	0.25155	0.225000	0.24961	0.513000	0.22770	2.679000	0.91253	0.655000	0.94253	GGA		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		48	58	1	0	1.46357e-32	1	1.72968e-32	48	58				
PARVG	64098	broad.mit.edu	37	22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A	rs200000493		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr22:44585032G>A	ENST00000444313.3	+	6	770	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000422871.1_Missense_Mutation_p.A96T	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	96	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(286-288)Gcc>Acc		parvin, gamma							105.0	93.0	97.0					22																	44585032		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585032G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.286G>A	22.37:g.44585032G>A	ENSP00000391583:p.Ala96Thr					PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000444313.2_Missense_Mutation_p.A96T	p.A96T	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			6	710	+		Ovarian(80;0.024)|all_neural(38;0.0299)	96			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.286G>A	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422888	0.11928	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.94862	-3.54;-3.54;-3.54	4.86	2.71	0.32032	Calponin homology domain (4);	0.066647	0.64402	D	0.000012	D	0.87981	0.6315	N	0.26130	0.795	0.42608	D	0.993305	D	0.55172	0.97	P	0.47118	0.538	D	0.84913	0.0849	10	0.02654	T	1	-19.638	7.1608	0.25662	0.093:0.0:0.7309:0.1761	.	96	Q9HBI0	PARVG_HUMAN	T	96	ENSP00000391453:A96T;ENSP00000391583:A96T;ENSP00000416761:A96T	ENSP00000349378:A96T	A	+	1	0	PARVG	42916365	0.962000	0.33011	0.008000	0.14137	0.331000	0.28603	2.592000	0.46171	0.418000	0.25898	0.555000	0.69702	GCC		0.652	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		7	64	0	0	0	1	0	7	64				
TPTE2	93492	broad.mit.edu	37	13	20067611	20067611	+	Silent	SNP	G	G	A	rs144275026		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr13:20067611G>A	ENST00000400230.2	-	2	86	c.42C>T	c.(40-42)acC>acT	p.T14T	TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	14					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGCCTCCTCGGTTGTTCCTT	0.373													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18548	0.0		0.0	False		,,,				2504	0.0					ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(40-42)acC>acT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2		G	,,	2,4404	4.2+/-10.8	0,2,2201	120.0	112.0	115.0		42,42,42	-1.6	0.0	13	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	14/412,14/446,14/523	20067611	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20067611G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.42C>T	13.37:g.20067611G>A						TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T	p.T14T			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	2	86	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	14					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.42C>T	CCDS45014.1																																																																																				0.373	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	57	0	0	0	1	0	9	57				
TRAM1	23471	broad.mit.edu	37	8	71496023	71496023	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr8:71496023G>A	ENST00000262213.2	-	9	921	c.752C>T	c.(751-753)tCt>tTt	p.S251F	TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521425.1_Missense_Mutation_p.S165F|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	251	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGCCCACAGAGAAAATCTGCA	0.403																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(493-495)tCt>tTt		translocation associated membrane protein 1							66.0	73.0	71.0					8																	71496023		2202	4300	6502	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71496023G>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.752C>T	8.37:g.71496023G>A	ENSP00000262213:p.Ser251Phe					TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F|TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521049.1_5'UTR	p.S165F			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		9	1530	-			251			TLC.		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.494C>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174162	0.78452	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.84873	-1.91;-1.91;-1.91	5.4	5.4	0.78164	TRAM/LAG1/CLN8 homology domain (3);	0.225652	0.44285	D	0.000466	D	0.89663	0.6780	L	0.59436	1.845	0.50039	D	0.999849	D	0.57899	0.981	D	0.64687	0.928	D	0.85596	0.1249	10	0.12103	T	0.63	-23.6741	19.1656	0.93555	0.0:0.0:1.0:0.0	.	251	Q15629	TRAM1_HUMAN	F	165;251;220	ENSP00000428052:S165F;ENSP00000262213:S251F;ENSP00000439359:S220F	ENSP00000262213:S251F	S	-	2	0	TRAM1	71658577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.268000	0.65536	2.539000	0.85634	0.557000	0.71058	TCT		0.403	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		24	24	0	0	0	1	0	24	24				
NDUFB10	4716	broad.mit.edu	37	16	2011661	2011661	+	Intron	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:2011661C>T	ENST00000268668.6	+	3	526				SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000569148.1_Intron|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Missense_Mutation_p.P145S	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						CCACCCCCAACCCCCCACCAT	0.597																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(433-435)Ccc>Tcc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						9.0	9.0	9.0					16																	2011661		2122	4145	6267	SO:0001627	intron_variant	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011661C>T	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.409+24C>T	16.37:g.2011661C>T						NDUFB10_ENST00000569148.1_Intron|NDUFB10_ENST00000268668.6_Intron	p.P145S			O96000	NDUBA_HUMAN			3	515	+			13					Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	c.433C>T	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	C	0.766	-0.767382	0.02974	.	.	ENSG00000140990	ENST00000543683	.	.	.	2.04	-3.18	0.05186	.	.	.	.	.	T	0.15609	0.0376	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.01281	0.0	T	0.23261	-1.0193	6	.	.	.	.	1.6492	0.02768	0.1892:0.3309:0.342:0.1379	.	145	Q96II6	.	S	145	.	.	P	+	1	0	NDUFB10	1951662	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.755000	0.04709	-1.712000	0.00714	CCC		0.597	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		4	3	0	0	0	1	0	4	3				
CCSER1	401145	broad.mit.edu	37	4	91230659	91230659	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:91230659A>G	ENST00000509176.1	+	2	1512	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	408																	AACATGTAAAAGGGATCCATC	0.358																																						ENST00000509176.1																			0											c.(1222-1224)aaA>aaG		coiled-coil serine-rich protein 1							116.0	113.0	114.0					4																	91230659		1861	4087	5948	SO:0001819	synonymous_variant	401145							g.chr4:91230659A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1224A>G	4.37:g.91230659A>G						CCSER1_ENST00000333691.8_Silent_p.K408K|CCSER1_ENST00000432775.2_Silent_p.K408K	p.K408K	NM_001145065.1	NP_001138537.1					2	1512	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1224A>G	CCDS47099.1																																																																																				0.358	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	163	0	0	0	1	0	3	163				
SCTR	6344	broad.mit.edu	37	2	120223462	120223462	+	Splice_Site	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr2:120223462G>A	ENST00000019103.5	-	5	673	c.406C>T	c.(406-408)Cac>Tac	p.H136Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	136					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTAGGAGTGCTGCAGAGAG	0.622																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.e5-1		secretin receptor	Secretin(DB00021)						133.0	97.0	109.0					2																	120223462		2203	4300	6503	SO:0001630	splice_region_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120223462G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.406-1C>T	2.37:g.120223462G>A							p.H136_splice	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			5	673	-			136					Q12961|Q13213|Q53T00	Splice_Site	SNP	ENST00000019103.5	37	c.405_splice	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694807	0.00731	.	.	ENSG00000080293	ENST00000019103	T	0.42131	0.98	5.33	3.49	0.39957	.	0.193718	0.36740	N	0.002425	T	0.24661	0.0598	L	0.33293	1	0.38845	D	0.956143	B	0.02656	0.0	B	0.06405	0.002	T	0.13388	-1.0511	10	0.02654	T	1	.	8.0022	0.30304	0.0834:0.306:0.6106:0.0	.	136	P47872	SCTR_HUMAN	Y	136	ENSP00000019103:H136Y	ENSP00000019103:H136Y	H	-	1	0	SCTR	119939932	1.000000	0.71417	0.968000	0.41197	0.115000	0.19883	3.553000	0.53713	0.776000	0.33473	-0.175000	0.13238	CAC		0.622	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		Missense_Mutation	3	41	0	0	0	1	0	3	41				
MRAS	22808	broad.mit.edu	37	3	138117381	138117381	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr3:138117381C>A	ENST00000289104.4	+	4	1065	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K|MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	140					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CACCAGGGAGCAAGGAAAAGA	0.512																																						ENST00000289104.4																			0				kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(418-420)Caa>Aaa		muscle RAS oncogene homolog							148.0	133.0	138.0					3																	138117381		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138117381C>A	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.418C>A	3.37:g.138117381C>A	ENSP00000289104:p.Gln140Lys					MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K	p.Q140K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN			4	1065	+			140					B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.418C>A	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968475	0.74131	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	L	0.28344	0.845	0.80722	D	1	B	0.34329	0.449	B	0.29524	0.103	T	0.70568	-0.4836	10	0.62326	D	0.03	.	15.1511	0.72700	0.0:1.0:0.0:0.0	.	140	O14807	RASM_HUMAN	K	140;140;64;64;140	ENSP00000289104:Q140K;ENSP00000389682:Q140K;ENSP00000417685:Q64K;ENSP00000419582:Q64K;ENSP00000418356:Q140K	ENSP00000289104:Q140K	Q	+	1	0	MRAS	139600071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.149000	0.67028	0.561000	0.74099	CAA		0.512	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			3	70	1	0	0.150653	1	0.15668	3	70				
FAM21C	253725	broad.mit.edu	37	10	46248088	46248088	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:46248088G>A	ENST00000336378.4	+	12	1174	c.1056G>A	c.(1054-1056)tcG>tcA	p.S352S	FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S|FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	352					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)		p.S351S(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						AGGACTTCTCGCCATTTGGCT	0.532																																						ENST00000336378.4																			1	Substitution - coding silent(1)	p.S351S(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						c.(1054-1056)tcG>tcA		family with sequence similarity 21, member C							79.0	90.0	87.0					10																	46248088		1892	4104	5996	SO:0001819	synonymous_variant	253725							g.chr10:46248088G>A		CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.1056G>A	10.37:g.46248088G>A						FAM21C_ENST00000537517.1_Silent_p.S328S|FAM21C_ENST00000540872.1_Silent_p.S352S|FAM21C_ENST00000359860.4_Silent_p.S296S|FAM21C_ENST00000374362.2_Silent_p.S352S	p.S352S	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN			12	1174	+			352					B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Silent	SNP	ENST00000336378.4	37	c.1056G>A																																																																																					0.532	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding				76	117	0	0	0	1	0	76	117				
RPL5	6125	broad.mit.edu	37	1	93300426	93300426	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:93300426A>G	ENST00000370321.3	+	4	370	c.280A>G	c.(280-282)Aat>Gat	p.N94D	SNORD21_ENST00000383953.1_RNA	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	94					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCCTGACAAATTATGCTGC	0.453																																						ENST00000370321.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(280-282)Aat>Gat		ribosomal protein L5							112.0	111.0	111.0					1																	93300426		2203	4298	6501	SO:0001583	missense	6125				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome	g.chr1:93300426A>G	U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.280A>G	1.37:g.93300426A>G	ENSP00000359345:p.Asn94Asp						p.N94D	NM_000969.3	NP_000960.2	P46777	RL5_HUMAN		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)	4	370	+		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)	94					Q32LZ3|Q53HH6|Q9H3F4	Missense_Mutation	SNP	ENST00000370321.3	37	c.280A>G	CCDS741.1	.	.	.	.	.	.	.	.	.	.	A	28.5	4.925950	0.92319	.	.	ENSG00000122406	ENST00000432788;ENST00000370321;ENST00000315741	T	0.69685	-0.42	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.85583	0.5730	H	0.98525	4.255	0.80722	D	1	B	0.33583	0.418	P	0.53146	0.719	D	0.88153	0.2852	10	0.66056	D	0.02	.	14.9846	0.71336	1.0:0.0:0.0:0.0	.	94	P46777	RL5_HUMAN	D	44;94;44	ENSP00000359345:N94D	ENSP00000359338:N44D	N	+	1	0	RPL5	93073014	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	9.321000	0.96353	1.944000	0.56390	0.533000	0.62120	AAT		0.453	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2	NM_000969		5	155	0	0	0	1	0	5	155				
NUFIP2	57532	broad.mit.edu	37	17	27620945	27620945	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr17:27620945G>T	ENST00000225388.4	-	1	191	c.133C>A	c.(133-135)Cac>Aac	p.H45N	NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	45	His-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtggtggttgtggctg	0.587																																						ENST00000225388.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24						c.(133-135)Cac>Aac		nuclear fragile X mental retardation protein interacting protein 2							127.0	125.0	125.0					17																	27620945		2203	4300	6503	SO:0001583	missense	57532					nucleus|polysomal ribosome	protein binding|RNA binding	g.chr17:27620945G>T	AB037742	CCDS32600.1	17q11.1	2006-03-01				ENSG00000108256			17634	protein-coding gene	gene with protein product		609356				12837692, 16407062	Standard	NM_020772		Approved	KIAA1321, MGC117262, PIG1, 182-FIP, FIP-82, 82-FIP	uc002hdy.4	Q7Z417		ENST00000225388.4:c.133C>A	17.37:g.27620945G>T	ENSP00000225388:p.His45Asn					NUFIP2_ENST00000579665.1_Missense_Mutation_p.H45N	p.H45N	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)		1	191	-			45			His-rich.		A1L3A6|Q9P2M5	Missense_Mutation	SNP	ENST00000225388.4	37	c.133C>A	CCDS32600.1	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778902	0.49891	.	.	ENSG00000108256	ENST00000225388	.	.	.	5.41	5.41	0.78517	.	0.000000	0.46758	D	0.000266	T	0.24470	0.0593	N	0.08118	0	0.32353	N	0.558245	B;B	0.34226	0.238;0.443	B;B	0.30943	0.122;0.047	T	0.33777	-0.9855	9	0.45353	T	0.12	0.0249	14.6859	0.69049	0.0:0.0:1.0:0.0	.	45;45	Q7Z417;A1L3A6	NUFP2_HUMAN;.	N	45	.	ENSP00000225388:H45N	H	-	1	0	NUFIP2	24645071	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.321000	0.65846	2.539000	0.85634	0.467000	0.42956	CAC		0.587	NUFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447015.2	NM_020772		5	112	1	0	1.23904e-05	1	1.41251e-05	5	112				
PCDH11Y	83259	broad.mit.edu	37	Y	4968733	4968733	+	Silent	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chrY:4968733C>T	ENST00000333703.4	+	5	3594	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1038					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACCTGTGTCCGTACACACCA	0.403																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(3079-3081)tcC>tcT		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4968733C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.3081C>T	Y.37:g.4968733C>T						PCDH11Y_ENST00000215473.6_Silent_p.S1038S|PCDH11Y_ENST00000362095.5_Silent_p.S1038S	p.S1027S	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			5	3594	+			1038					Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.3081C>T	CCDS14776.1																																																																																				0.403	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		4	67	0	0	0	1	0	4	67				
ZNF83	55769	broad.mit.edu	37	19	53116804	53116804	+	Silent	SNP	G	G	A	rs192432041	byFrequency	TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:53116804G>A	ENST00000597597.1	-	2	3267	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I			P51522	ZNF83_HUMAN	zinc finger protein 83	338					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I338I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTCCAGTGTGGATTCTCCAGT	0.413													A|||	3	0.000599042	0.0	0.0014	5008	,	,		22957	0.001		0.001	False		,,,				2504	0.0					ENST00000597597.1																			1	Substitution - coding silent(1)	p.I338I(1)	lung(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18						c.(1012-1014)atC>atT		zinc finger protein 83							120.0	122.0	121.0					19																	53116804		2203	4300	6503	SO:0001819	synonymous_variant	55769					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:53116804G>A	M27877	CCDS12854.1	19q13.3	2013-01-08	2006-05-12			ENSG00000167766		"""Zinc fingers, C2H2-type"""	13158	protein-coding gene	gene with protein product		194558	"""zinc finger protein 83 (HPF1)"", ""zinc finger protein 816B"""	ZNF816B		8088807	Standard	NM_018300		Approved	FLJ11015, HPF1	uc010epy.3	P51522		ENST00000597597.1:c.1014C>T	19.37:g.53116804G>A						ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Silent_p.I338I|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000391789.4_Silent_p.I310I|ZNF83_ENST00000541777.2_Silent_p.I338I|ZNF83_ENST00000536937.1_Silent_p.I338I|ZNF83_ENST00000301096.3_Silent_p.I338I|ZNF83_ENST00000544146.1_Silent_p.I338I	p.I338I			P51522	ZNF83_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)	2	3267	-			338					A8MT75|Q3ZCX0|Q6PI08	Silent	SNP	ENST00000597597.1	37	c.1014C>T	CCDS12854.1																																																																																				0.413	ZNF83-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463700.1	NM_018300		7	155	0	0	0	1	0	7	155				
C7orf43	55262	broad.mit.edu	37	7	99753343	99753343	+	Missense_Mutation	SNP	G	G	A	rs372793432		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr7:99753343G>A	ENST00000316937.3	-	9	1531	c.1346C>T	c.(1345-1347)gCg>gTg	p.A449V	C7orf43_ENST00000498638.1_5'Flank|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V|MIR4658_ENST00000584344.1_RNA|C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V|C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	449										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAGGTGAGCGCGCTGCCCTT	0.657																																						ENST00000316937.3																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10						c.(1345-1347)gCg>gTg		chromosome 7 open reading frame 43		G	VAL/ALA	0,4406		0,0,2203	81.0	83.0	82.0		1346	5.7	0.8	7		82	1,8599	1.2+/-3.3	0,1,4299	no	missense	C7orf43	NM_018275.3	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	449/581	99753343	1,13005	2203	4300	6503	SO:0001583	missense	55262							g.chr7:99753343G>A		CCDS5687.1	7q22.1	2011-11-25			ENSG00000146826	ENSG00000146826			25604	protein-coding gene	gene with protein product						12477932	Standard	NM_018275		Approved	FLJ10925	uc003utr.3	Q8WVR3	OTTHUMG00000154862	ENST00000316937.3:c.1346C>T	7.37:g.99753343G>A	ENSP00000324741:p.Ala449Val					C7orf43_ENST00000419841.1_Missense_Mutation_p.A217V|C7orf43_ENST00000394035.2_Missense_Mutation_p.A25V|C7orf43_ENST00000457641.1_Missense_Mutation_p.A180V	p.A449V	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN			9	1531	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		449					A4D2A9|D6W5U4|Q9BQJ1|Q9BUB6|Q9NV47	Missense_Mutation	SNP	ENST00000316937.3	37	c.1346C>T	CCDS5687.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.986149	0.93044	0.0	1.16E-4	ENSG00000146826	ENST00000394035;ENST00000457641;ENST00000316937;ENST00000275726;ENST00000419841	T;T;T;T	0.23348	1.91;1.91;1.91;1.91	5.66	5.66	0.87406	.	0.064960	0.64402	D	0.000009	T	0.19087	0.0458	N	0.08118	0	0.43211	D	0.99507	P;D;D;P	0.56287	0.514;0.975;0.975;0.947	B;P;P;B	0.46299	0.122;0.511;0.511;0.196	T	0.05289	-1.0894	10	0.72032	D	0.01	-15.6726	15.235	0.73422	0.0:0.0:1.0:0.0	.	217;71;75;449	E9PFF9;Q8WVR3-2;Q8WVR3-3;Q8WVR3	.;.;.;CG043_HUMAN	V	25;180;449;71;217	ENSP00000377600:A25V;ENSP00000396432:A180V;ENSP00000324741:A449V;ENSP00000406326:A217V	ENSP00000275726:A71V	A	-	2	0	C7orf43	99591279	1.000000	0.71417	0.806000	0.32338	0.960000	0.62799	5.071000	0.64382	2.667000	0.90743	0.561000	0.74099	GCG		0.657	C7orf43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337395.2	NM_018275		4	88	0	0	0	1	0	4	88				
CCDC57	284001	broad.mit.edu	37	17	80121090	80121090	+	Nonsense_Mutation	SNP	G	G	A	rs201336748		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr17:80121090G>A	ENST00000389641.4	-	13	2062	c.2026C>T	c.(2026-2028)Cga>Tga	p.R676*	CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|RP11-1376P16.1_ENST00000582774.1_RNA|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392347.1_Nonsense_Mutation_p.R676*			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	676										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TGTCTGAGTCGTGTCACCAGC	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		18669	0.0		0.0	False		,,,				2504	0.001					ENST00000392347.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16						c.(2026-2028)Cga>Tga		coiled-coil domain containing 57		G	stop/ARG	4,4174		0,4,2085	147.0	156.0	153.0		2026	0.6	0.0	17		153	0,8406		0,0,4203	yes	stop-gained	CCDC57	NM_198082.2		0,4,6288	AA,AG,GG		0.0,0.0957,0.0318		676/916	80121090	4,12580	2089	4203	6292	SO:0001587	stop_gained	284001							g.chr17:80121090G>A	BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2026C>T	17.37:g.80121090G>A	ENSP00000374292:p.Arg676*					CCDC57_ENST00000392343.3_Nonsense_Mutation_p.R676*|CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000389641.4_Nonsense_Mutation_p.R676*	p.R676*	NM_198082.2	NP_932348.2	Q2TAC2	CCD57_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)		13	2062	-	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		676					A6NP51|A8MQC7|Q8IWG2|Q8TER3	Nonsense_Mutation	SNP	ENST00000389641.4	37	c.2026C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.2|22.2	4.259674|4.259674	0.80246|0.80246	9.57E-4|9.57E-4	0.0|0.0	ENSG00000176155|ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000327026;ENST00000392343|ENST00000419322	.|.	.|.	.|.	2.86|2.86	0.581|0.581	0.17407|0.17407	.|.	0.967105|.	0.08401|.	N|.	0.951395|.	.|T	.|0.38772	.|0.1053	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33369	.|-0.9871	.|5	0.02654|0.45353	T|T	1|0.12	-2.432|-2.432	8.407|8.407	0.32621|0.32621	0.0:0.4809:0.5191:0.0|0.0:0.4809:0.5191:0.0	.|.	.|.	.|.	.|.	X|M	676;676;184;676|21	.|.	ENSP00000315967:R184X|ENSP00000408124:T21M	R|T	-|-	1|2	2|0	CCDC57|CCDC57	77714379|77714379	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	0.143000|0.143000	0.16115|0.16115	0.198000|0.198000	0.20407|0.20407	0.557000|0.557000	0.71058|0.71058	CGA|ACG		0.617	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3	NM_198082		75	124	0	0	0	1	0	75	124				
MTA2	9219	broad.mit.edu	37	11	62361465	62361465	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr11:62361465C>G	ENST00000278823.2	-	18	2278	c.1889G>C	c.(1888-1890)cGc>cCc	p.R630P	MIR3654_ENST00000496634.2_5'Flank|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P|TUT1_ENST00000476907.1_5'Flank|MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|TUT1_ENST00000308436.7_5'Flank	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	630					ATP-dependent chromatin remodeling (GO:0043044)|chromatin assembly or disassembly (GO:0006333)|DNA methylation (GO:0006306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	histone deacetylase complex (GO:0000118)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|histone deacetylase activity (GO:0004407)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGGGTCGGCGAGCAGCTCG	0.582											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278823.2																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						c.(1888-1890)cGc>cCc		metastasis associated 1 family, member 2							116.0	104.0	108.0					11																	62361465		2202	4299	6501	SO:0001583	missense	9219				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr11:62361465C>G	AB016591	CCDS8022.1	11q12-q13.1	2013-01-25	2004-12-15	2003-12-17	ENSG00000149480	ENSG00000149480		"""GATA zinc finger domain containing"""	7411	protein-coding gene	gene with protein product		603947	"""metastasis associated gene family, member 2"""	MTA1L1		9929979	Standard	NM_004739		Approved	MTA1-L1	uc001ntq.2	O94776	OTTHUMG00000167684	ENST00000278823.2:c.1889G>C	11.37:g.62361465C>G	ENSP00000278823:p.Arg630Pro		OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1060	MTA2_ENST00000527204.1_Missense_Mutation_p.R457P|MTA2_ENST00000524902.1_Missense_Mutation_p.R457P	p.R630P	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN			18	2278	-			630					Q68DB1|Q9UQB5	Missense_Mutation	SNP	ENST00000278823.2	37	c.1889G>C	CCDS8022.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.619825	0.87460	.	.	ENSG00000149480	ENST00000278823;ENST00000524902;ENST00000527204	T;T;T	0.69561	0.22;-0.41;-0.41	5.87	5.87	0.94306	.	0.121387	0.53938	D	0.000044	T	0.80177	0.4575	M	0.62723	1.935	0.80722	D	1	D	0.67145	0.996	D	0.70487	0.969	T	0.80781	-0.1229	10	0.72032	D	0.01	-15.7564	17.7165	0.88338	0.0:1.0:0.0:0.0	.	630	O94776	MTA2_HUMAN	P	630;457;457	ENSP00000278823:R630P;ENSP00000431346:R457P;ENSP00000431797:R457P	ENSP00000278823:R630P	R	-	2	0	MTA2	62118041	1.000000	0.71417	0.955000	0.39395	0.973000	0.67179	6.597000	0.74118	2.778000	0.95560	0.650000	0.86243	CGC		0.582	MTA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395578.1	NM_004739		36	57	0	0	0	1	0	36	57				
MCF2	4168	broad.mit.edu	37	X	138678882	138678882	+	Silent	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chrX:138678882G>A	ENST00000370576.4	-	19	2312	c.2103C>T	c.(2101-2103)agC>agT	p.S701S	MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000520602.1_Silent_p.S761S|MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000519895.1_Silent_p.S777S|AL033403.1_ENST00000401295.2_RNA|MCF2_ENST00000370573.4_Silent_p.S701S	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	701	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CTATCCAAACGCTGAATCCAC	0.388																																						ENST00000520602.1																			0				NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62						c.(2281-2283)agC>agT		MCF.2 cell line derived transforming sequence							196.0	167.0	177.0					X																	138678882		2203	4299	6502	SO:0001819	synonymous_variant	4168				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	g.chrX:138678882G>A		CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.2103C>T	X.37:g.138678882G>A						MCF2_ENST00000414978.1_Silent_p.S761S|MCF2_ENST00000519895.1_Silent_p.S777S|MCF2_ENST00000536274.1_Silent_p.S662S|MCF2_ENST00000370578.4_Silent_p.S846S|MCF2_ENST00000370573.4_Silent_p.S701S|MCF2_ENST00000338585.6_Silent_p.S717S|MCF2_ENST00000370576.4_Silent_p.S701S	p.S761S			P10911	MCF2_HUMAN			22	2568	-	Acute lymphoblastic leukemia(192;0.000127)		701			PH.		B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	ENST00000370576.4	37	c.2283C>T	CCDS14667.1	.	.	.	.	.	.	.	.	.	.	g	7.924	0.739247	0.15642	.	.	ENSG00000101977	ENST00000437564	.	.	.	5.78	-6.83	0.01693	.	.	.	.	.	T	0.64360	0.2591	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67711	-0.5600	4	.	.	.	.	16.6015	0.84817	0.4345:0.0:0.5655:0.0	.	.	.	.	C	205	.	.	R	-	1	0	MCF2	138506548	0.993000	0.37304	0.273000	0.24645	0.876000	0.50452	0.476000	0.22180	-2.073000	0.00878	-1.272000	0.01410	CGT		0.388	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058560.1	NM_005369		7	53	0	0	0	1	0	7	53				
S100A3	6274	broad.mit.edu	37	1	153520902	153520902	+	Silent	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:153520902T>G	ENST00000368713.3	-	2	256	c.60A>C	c.(58-60)gcA>gcC	p.A20A	S100A4_ENST00000368716.4_5'Flank|S100A3_ENST00000368712.1_Silent_p.A20A|S100A4_ENST00000368714.1_Intron|S100A4_ENST00000354332.4_5'Flank	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	S100 calcium binding protein A3	20	EF-hand 1.					cytoplasm (GO:0005737)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|liver(1)|lung(1)	3	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCGCCCTGCGTATTCCT	0.612																																						ENST00000368713.3																			0				breast(1)|liver(1)|lung(1)	3						c.(58-60)gcA>gcC		S100 calcium binding protein A3							153.0	147.0	149.0					1																	153520902		2203	4300	6503	SO:0001819	synonymous_variant	6274						calcium ion binding|protein binding	g.chr1:153520902T>G	BC012893	CCDS1043.1	1q21	2008-02-05	2001-11-28		ENSG00000188015	ENSG00000188015		"""S100 calcium binding proteins"""	10493	protein-coding gene	gene with protein product		176992	"""S100 calcium-binding protein A3"""	S100E		8341667	Standard	NM_002960		Approved		uc001fca.1	P33764	OTTHUMG00000013550	ENST00000368713.3:c.60A>C	1.37:g.153520902T>G						S100A4_ENST00000368714.1_Intron|S100A3_ENST00000368712.1_Silent_p.A20A	p.A20A	NM_002960.1	NP_002951.1	P33764	S10A3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	256	-	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		20			EF-hand 1.		D3DV51|Q6FGE4	Silent	SNP	ENST00000368713.3	37	c.60A>C	CCDS1043.1																																																																																				0.612	S100A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037726.1	NM_002960		15	189	0	0	0	1	0	15	189				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		3	23	0	0	0	1	0	3	23				
AFAP1	60312	broad.mit.edu	37	4	7811388	7811388	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr4:7811388G>C	ENST00000360265.4	-	8	1241	c.1007C>G	c.(1006-1008)tCc>tGc	p.S336C	AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000420658.1_Missense_Mutation_p.S336C			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	336						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CTCGTCTGTGGACGGCTTTTT	0.507																																						ENST00000420658.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						c.(1006-1008)tCc>tGc		actin filament associated protein 1							154.0	126.0	135.0					4																	7811388		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7811388G>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.1007C>G	4.37:g.7811388G>C	ENSP00000353402:p.Ser336Cys					AFAP1_ENST00000382543.3_Missense_Mutation_p.S336C|AFAP1_ENST00000358461.2_Missense_Mutation_p.S336C|AFAP1_ENST00000360265.4_Missense_Mutation_p.S336C	p.S336C	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN			9	1279	-			336					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.1007C>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	18.12	3.553412	0.65425	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.14266	2.52;2.52;2.52;2.52	5.26	4.38	0.52667	.	0.137998	0.51477	D	0.000094	T	0.30947	0.0781	L	0.50333	1.59	0.52099	D	0.999948	D;P	0.89917	1.0;0.604	D;B	0.87578	0.998;0.323	T	0.01635	-1.1307	10	0.46703	T	0.11	-25.6003	14.2861	0.66247	0.0:0.2836:0.7164:0.0	.	336;336	E9PDT7;Q8N556	.;AFAP1_HUMAN	C	336	ENSP00000353402:S336C;ENSP00000410689:S336C;ENSP00000351245:S336C;ENSP00000371983:S336C	ENSP00000351245:S336C	S	-	2	0	AFAP1	7862288	1.000000	0.71417	0.871000	0.34182	0.759000	0.43091	6.785000	0.75089	1.285000	0.44548	0.655000	0.94253	TCC		0.507	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		10	22	0	0	0	1	0	10	22				
GRIA1	2890	broad.mit.edu	37	5	153190627	153190627	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr5:153190627C>T	ENST00000285900.5	+	16	2906	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W|GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	855					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CGAAGCCATACGGACATCGAC	0.592																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2563-2565)Cgg>Tgg		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)						64.0	67.0	66.0					5																	153190627		2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190627C>T		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2563C>T	5.37:g.153190627C>T	ENSP00000285900:p.Arg855Trp					GRIA1_ENST00000521843.2_Missense_Mutation_p.R786W|GRIA1_ENST00000518142.1_Missense_Mutation_p.R775W|GRIA1_ENST00000448073.4_Missense_Mutation_p.R865W|GRIA1_ENST00000340592.5_Missense_Mutation_p.R855W|GRIA1_ENST00000518783.1_Missense_Mutation_p.R865W	p.R855W	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2906	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	855					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2563C>T	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.033868	0.75504	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.14640	2.56;2.49;2.56;2.49;2.5;2.56;2.56	5.16	3.33	0.38152	.	0.057658	0.64402	D	0.000001	T	0.28995	0.0720	L	0.50333	1.59	0.53005	D	0.999968	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	P;P;D;P;D	0.67725	0.642;0.642;0.915;0.804;0.953	T	0.01087	-1.1456	10	0.87932	D	0	.	13.146	0.59461	0.2919:0.7081:0.0:0.0	.	865;865;775;855;855	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	W	855;855;775;855;788;786;865;865	ENSP00000285900:R855W;ENSP00000427920:R775W;ENSP00000339343:R855W;ENSP00000427864:R788W;ENSP00000442108:R786W;ENSP00000428994:R865W;ENSP00000415569:R865W	ENSP00000285900:R855W	R	+	1	2	GRIA1	153170820	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	0.503000	0.22610	0.525000	0.28522	-0.181000	0.13052	CGG		0.592	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			20	34	0	0	0	1	0	20	34				
PNPLA6	10908	broad.mit.edu	37	19	7624001	7624001	+	Missense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:7624001C>G	ENST00000221249.6	+	31	3980	c.3549C>G	c.(3547-3549)ttC>ttG	p.F1183L	PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1222					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGACTGCTTCAAGACCATGG	0.567																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(3547-3549)ttC>ttG		patatin-like phospholipase domain containing 6							73.0	56.0	62.0					19																	7624001		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7624001C>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.3549C>G	19.37:g.7624001C>G	ENSP00000221249:p.Phe1183Leu					PNPLA6_ENST00000450331.3_Missense_Mutation_p.F1183L|PNPLA6_ENST00000600737.1_Missense_Mutation_p.F1221L|PNPLA6_ENST00000414982.3_Missense_Mutation_p.F1231L|PNPLA6_ENST00000545201.2_Missense_Mutation_p.F1156L	p.F1183L	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			31	3980	+			1222					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.3549C>G	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	26.4	4.738736	0.89573	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95	4.97	4.97	0.65823	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.000000	0.85682	D	0.000000	D	0.82300	0.5007	M	0.80616	2.505	0.58432	D	0.999996	P;P;D;P	0.54964	0.948;0.859;0.969;0.94	B;P;P;P	0.52031	0.387;0.511;0.591;0.688	D	0.85778	0.1359	10	0.87932	D	0	-37.2483	15.7601	0.78073	0.0:1.0:0.0:0.0	.	1222;1156;1221;1183	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	L	1183;1156;1231;1183	ENSP00000221249:F1183L;ENSP00000443323:F1156L;ENSP00000407509:F1231L;ENSP00000394348:F1183L	ENSP00000221249:F1183L	F	+	3	2	PNPLA6	7530001	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.037000	0.41174	2.317000	0.78254	0.561000	0.74099	TTC		0.567	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		21	37	0	0	0	1	0	21	37				
FGFR2	2263	broad.mit.edu	37	10	123239400	123239400	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:123239400G>T	ENST00000358487.5	-	18	2709	c.2437C>A	c.(2437-2439)Cca>Aca	p.P813T	FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000357555.5_Intron	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	813					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTTATGTGTGGATACTGAGGA	0.478		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(2437-2439)Cca>Aca		fibroblast growth factor receptor 2	Palifermin(DB00039)						230.0	180.0	197.0					10																	123239400		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123239400G>T	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2437C>A	10.37:g.123239400G>T	ENSP00000351276:p.Pro813Thr					FGFR2_ENST00000457416.2_Missense_Mutation_p.P814T|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000369059.1_Missense_Mutation_p.P699T|FGFR2_ENST00000356226.4_Missense_Mutation_p.P696T|FGFR2_ENST00000346997.2_Missense_Mutation_p.P811T|FGFR2_ENST00000369060.4_Missense_Mutation_p.P697T|FGFR2_ENST00000478859.1_Missense_Mutation_p.P585T|FGFR2_ENST00000369061.4_Missense_Mutation_p.P701T	p.P813T	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	18	2709	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	813					B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.2437C>A	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612299	0.46631	.	.	ENSG00000066468	ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000346997;ENST00000457416	T;T;T;T;T;T;T	0.78924	-1.22;-1.17;-1.15;-1.22;-1.15;-1.18;-1.17	6.17	6.17	0.99709	.	0.284303	0.33875	N	0.004468	T	0.79805	0.4509	L	0.57536	1.79	0.80722	D	1	B;B;B;B;B	0.24317	0.034;0.101;0.057;0.001;0.081	B;B;B;B;B	0.31495	0.038;0.082;0.131;0.004;0.062	T	0.74864	-0.3519	10	0.66056	D	0.02	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	830;812;696;813;716	D3DRD5;P21802-18;P21802-20;P21802;D3DRD3	.;.;.;FGFR2_HUMAN;.	T	814;701;813;696;697;699;811;814	ENSP00000358057:P701T;ENSP00000351276:P813T;ENSP00000348559:P696T;ENSP00000358056:P697T;ENSP00000358055:P699T;ENSP00000263451:P811T;ENSP00000410294:P814T	ENSP00000263451:P811T	P	-	1	0	FGFR2	123229390	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	6.664000	0.74437	2.941000	0.99782	0.655000	0.94253	CCA		0.478	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		9	79	1	0	2.17888e-05	1	2.43522e-05	9	79				
NISCH	11188	broad.mit.edu	37	3	52522494	52522494	+	Missense_Mutation	SNP	C	C	A	rs200965700		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:52522494C>A	ENST00000479054.1	+	17	3058	c.2986C>A	c.(2986-2988)Cgc>Agc	p.R996S	NISCH_ENST00000345716.4_Missense_Mutation_p.R996S			Q9Y2I1	NISCH_HUMAN	nischarin	996					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCACTTCCTGCGCGTCTACAA	0.647																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(2986-2988)Cgc>Agc		nischarin							61.0	60.0	60.0					3																	52522494		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52522494C>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.2986C>A	3.37:g.52522494C>A	ENSP00000418232:p.Arg996Ser					NISCH_ENST00000479054.1_Missense_Mutation_p.R996S	p.R996S	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	16	3120	+			996					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.2986C>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409455	0.42715	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000414197	T;T	0.60672	0.17;0.17	5.21	4.24	0.50183	.	0.263109	0.37577	N	0.002040	T	0.34077	0.0885	N	0.14661	0.345	0.31926	N	0.612828	P	0.35714	0.517	B	0.30716	0.119	T	0.44937	-0.9295	10	0.41790	T	0.15	-24.0172	7.952	0.30021	0.2231:0.6846:0.0:0.0923	.	996	Q9Y2I1	NISCH_HUMAN	S	996;996;340	ENSP00000418232:R996S;ENSP00000339958:R996S	ENSP00000339958:R996S	R	+	1	0	NISCH	52497534	1.000000	0.71417	0.999000	0.59377	0.824000	0.46624	1.886000	0.39688	2.434000	0.82447	0.462000	0.41574	CGC		0.647	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		3	86	1	0	1	1	1	3	86				
ARHGAP22	58504	broad.mit.edu	37	10	49791063	49791063	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:49791063G>A	ENST00000249601.4	-	2	465	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000491108.1_5'UTR	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	57	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACAAACCAGCGCTGCTGCCAG	0.612																																						ENST00000249601.4																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(169-171)Cgc>Tgc		Rho GTPase activating protein 22							143.0	132.0	135.0					10																	49791063		2203	4300	6503	SO:0001583	missense	58504				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity	g.chr10:49791063G>A	AY324801	CCDS7227.1, CCDS58079.1, CCDS58080.1, CCDS58081.1	10q11.23	2013-01-10			ENSG00000128805	ENSG00000128805		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	30320	protein-coding gene	gene with protein product		610585				8619474	Standard	NM_021226		Approved	RhoGAP2	uc010qgm.3	Q7Z5H3	OTTHUMG00000018176	ENST00000249601.4:c.169C>T	10.37:g.49791063G>A	ENSP00000249601:p.Arg57Cys					ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R57C|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R63C	p.R57C	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN			2	465	-			57			PH.		A0AVP7|A5YM75|B4DED8|B9EGA0|C9JDM2|O00152|Q6ZSB0	Missense_Mutation	SNP	ENST00000249601.4	37	c.169C>T	CCDS7227.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.552177	0.86127	.	.	ENSG00000128805	ENST00000249601;ENST00000435790;ENST00000417912	T;T;T	0.39406	1.08;1.08;1.08	5.28	5.28	0.74379	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.64402	D	0.000001	T	0.74816	0.3766	H	0.96943	3.91	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.82737	-0.0309	10	0.87932	D	0	.	12.5575	0.56263	0.0:0.0:0.8336:0.1664	.	63;57;57;57	B4DED8;A6NDI7;Q7Z5H3-2;Q7Z5H3	.;.;.;RHG22_HUMAN	C	57;63;57	ENSP00000249601:R57C;ENSP00000416701:R63C;ENSP00000412461:R57C	ENSP00000249601:R57C	R	-	1	0	ARHGAP22	49461069	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.417000	0.80156	2.486000	0.83907	0.655000	0.94253	CGC		0.612	ARHGAP22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000358767.1	NM_021226		93	100	0	0	0	1	0	93	100				
EIF4G2	1982	broad.mit.edu	37	11	10821136	10821136	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr11:10821136G>T	ENST00000526148.1	-	19	2797	c.2287C>A	c.(2287-2289)Cat>Aat	p.H763N	EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N|RP11-685M7.5_ENST00000532365.1_RNA|SNORD97_ENST00000459187.1_RNA	NM_001172705.1	NP_001166176			eukaryotic translation initiation factor 4 gamma, 2											NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TTATCTACATGAAGTTTGGGA	0.363																																						ENST00000526148.1																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43						c.(2287-2289)Cat>Aat		eukaryotic translation initiation factor 4 gamma, 2							137.0	131.0	133.0					11																	10821136		2201	4294	6495	SO:0001583	missense	1982				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr11:10821136G>T	U73824	CCDS31428.1, CCDS41618.1	11p15	2005-09-29			ENSG00000110321	ENSG00000110321			3297	protein-coding gene	gene with protein product		602325				9030685, 9032289	Standard	NM_001042559		Approved	DAP5, NAT1, p97	uc001mjc.3	P78344	OTTHUMG00000165823	ENST00000526148.1:c.2287C>A	11.37:g.10821136G>T	ENSP00000433664:p.His763Asn					RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000339995.5_Missense_Mutation_p.H763N|EIF4G2_ENST00000396525.2_Missense_Mutation_p.H725N|EIF4G2_ENST00000525681.1_Missense_Mutation_p.H763N	p.H763N	NM_001172705.1	NP_001166176.1	P78344	IF4G2_HUMAN		all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)	19	2797	-			763			W2.			Missense_Mutation	SNP	ENST00000526148.1	37	c.2287C>A	CCDS31428.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622014	0.87460	.	.	ENSG00000110321	ENST00000526148;ENST00000525681;ENST00000339995;ENST00000396525;ENST00000429377;ENST00000528839;ENST00000379653	T;T;T;T	0.18338	2.22;2.22;2.22;2.23	5.52	5.52	0.82312	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.38772	0.1053	M	0.73598	2.24	0.51482	D	0.999920	D;D	0.67145	0.989;0.996	P;P	0.57101	0.813;0.813	T	0.06481	-1.0824	9	0.37606	T	0.19	-9.3538	19.4476	0.94854	0.0:0.0:1.0:0.0	.	763;836	P78344;B4DZF2	IF4G2_HUMAN;.	N	763;763;763;725;836;111;145	ENSP00000433664:H763N;ENSP00000433371:H763N;ENSP00000340281:H763N;ENSP00000379778:H725N	ENSP00000340281:H763N	H	-	1	0	EIF4G2	10777712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.599000	0.87857	0.563000	0.77884	CAT		0.363	EIF4G2-006	KNOWN	alternative_5_UTR|non_ATG_start|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386603.1	NM_001418		5	68	1	0	0.00307968	1	0.00331211	5	68				
RAF1	5894	broad.mit.edu	37	3	12626634	12626634	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:12626634T>C	ENST00000251849.4	-	15	2094	c.1655A>G	c.(1654-1656)aAc>aGc	p.N552S	RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	552	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	ATCTCGGTTGTTGATGTGAGA	0.517			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																													ENST00000251849.4				Dom	yes		3	3p25	5894	T	v-raf-1 murine leukemia viral oncogene homolog 1			M	SRGAP3		pilocytic astrocytoma	ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32						c.(1654-1656)aAc>aGc		v-raf-1 murine leukemia viral oncogene homolog 1	Sorafenib(DB00398)						88.0	77.0	81.0					3																	12626634		2203	4300	6503	SO:0001583	missense	5894	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr3:12626634T>C	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.1655A>G	3.37:g.12626634T>C	ENSP00000251849:p.Asn552Ser					RAF1_ENST00000534997.1_Missense_Mutation_p.N337S|RAF1_ENST00000442415.2_Missense_Mutation_p.N572S|RAF1_ENST00000542177.1_Missense_Mutation_p.N471S	p.N552S	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN			15	2094	-			552			Protein kinase.		B0LPH8|B2R5N3|Q15278|Q9UC20	Missense_Mutation	SNP	ENST00000251849.4	37	c.1655A>G	CCDS2612.1	.	.	.	.	.	.	.	.	.	.	T	11.89	1.774714	0.31411	.	.	ENSG00000132155	ENST00000251849;ENST00000442415;ENST00000432427;ENST00000534997;ENST00000542177	D;D;D;D;D	0.98807	-5.15;-5.15;-5.15;-5.15;-5.15	5.54	3.14	0.36123	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.239499	0.50627	D	0.000102	D	0.93703	0.7988	N	0.04373	-0.215	0.35881	D	0.82892	B;B;B	0.15719	0.014;0.004;0.009	B;B;B	0.25614	0.062;0.013;0.05	D	0.89819	0.3987	10	0.33141	T	0.24	.	8.4182	0.32683	0.0:0.2121:0.0:0.7879	.	471;337;552	B4E0X2;B4E1N6;P04049	.;.;RAF1_HUMAN	S	552;572;431;337;471	ENSP00000251849:N552S;ENSP00000401888:N572S;ENSP00000398591:N431S;ENSP00000441186:N337S;ENSP00000443567:N471S	ENSP00000251849:N552S	N	-	2	0	RAF1	12601634	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	2.127000	0.42035	0.523000	0.28482	0.533000	0.62120	AAC		0.517	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252015.2	NM_002880		3	80	0	0	0	1	0	3	80				
PPIG	9360	broad.mit.edu	37	2	170493494	170493494	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:170493494C>T	ENST00000260970.3	+	14	1946	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	576	Arg/Ser-rich (RS domain).				protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)	p.R576*(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAGAAGAGTGCGATCAAGAAC	0.448																																						ENST00000260970.3																			1	Substitution - Nonsense(1)	p.R576*(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(1726-1728)Cga>Tga		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						145.0	138.0	140.0					2																	170493494		2202	4300	6502	SO:0001587	stop_gained	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493494C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.1726C>T	2.37:g.170493494C>T	ENSP00000260970:p.Arg576*					PPIG_ENST00000448752.2_Nonsense_Mutation_p.R576*|PPIG_ENST00000409714.3_Nonsense_Mutation_p.R561*	p.R576*	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	1946	+			576			Arg/Ser-rich (RS domain).		D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Nonsense_Mutation	SNP	ENST00000260970.3	37	c.1726C>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	16.29	3.082793	0.55861	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	.	.	.	5.74	1.39	0.22231	.	0.233426	0.35262	N	0.003325	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.9424	8.9443	0.35749	0.6327:0.288:0.0:0.0792	.	.	.	.	X	576;561;576	.	ENSP00000260970:R576X	R	+	1	2	PPIG	170201740	0.213000	0.23551	0.999000	0.59377	0.142000	0.21351	0.587000	0.23909	0.323000	0.23307	-0.119000	0.15052	CGA		0.448	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			3	47	0	0	0	1	0	3	47				
EPPIN	57119	broad.mit.edu	37	20	44167989	44167989	+	IGR	SNP	G	G	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr20:44167989G>C	ENST00000354280.4	-	0	1987				WFDC6_ENST00000600168.1_Missense_Mutation_p.Q20E|WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN-WFDC6_ENST00000504988.1_Intron|EPPIN_ENST00000555685.1_Intron	NM_020398.3	NP_065131.1	O95925	EPPI_HUMAN	epididymal peptidase inhibitor						defense response to bacterium (GO:0042742)|negative regulation of peptidase activity (GO:0010466)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CCAGGTTCCTGGATGTCCCCC	0.502																																						ENST00000600168.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)	6						c.(58-60)Cag>Gag		WAP four-disulfide core domain 6							121.0	107.0	112.0					20																	44167989		2203	4300	6503	SO:0001628	intergenic_variant	140870							g.chr20:44167989G>C	AF286370	CCDS13359.1	20q13.12	2014-01-21	2012-08-22	2012-08-22	ENSG00000101448	ENSG00000101448		"""WAP four-disulfide core domain containing"""	15932	protein-coding gene	gene with protein product	"""epididymal protease inhibitor"", ""cancer/testis antigen 72"""	609031	"""serine protease inhibitor-like, with Kunitz and WAP domains 1 (eppin)"", ""serine peptidase inhibitor-like, with Kunitz and WAP domains 1 (eppin)"""	SPINLW1		11404006, 12206714	Standard	NM_020398		Approved	EPPIN1, EPPIN2, EPPIN3, dJ461P17.2, WAP7, WFDC7, CT71		O95925	OTTHUMG00000032588		20.37:g.44167989G>C						EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.Q20E|EPPIN_ENST00000555685.1_Intron	p.Q20E							1	145	-		Myeloproliferative disorder(115;0.0122)						A6PVD6|Q86TP9|Q96SD7|Q9HD30	Missense_Mutation	SNP	ENST00000354280.4	37	c.58C>G	CCDS13359.1	.	.	.	.	.	.	.	.	.	.	G	15.46	2.840413	0.51057	.	.	ENSG00000243543	ENST00000372670;ENST00000372665	T	0.39997	1.05	3.42	3.42	0.39159	.	.	.	.	.	T	0.49558	0.1564	.	.	.	0.44908	D	0.997921	D	0.58268	0.982	P	0.52554	0.702	T	0.54925	-0.8220	8	0.87932	D	0	.	10.6249	0.45502	0.0:0.0:1.0:0.0	.	20	Q9BQY6-2	.	E	20	ENSP00000361750:Q20E	ENSP00000361750:Q20E	Q	-	1	0	WFDC6	43601403	0.375000	0.25089	0.268000	0.24571	0.009000	0.06853	1.434000	0.34958	2.209000	0.71365	0.455000	0.32223	CAG		0.502	EPPIN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079467.4			37	40	0	0	0	1	0	37	40				
SALL1	6299	broad.mit.edu	37	16	51172768	51172768	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr16:51172768A>G	ENST00000251020.4	-	2	3398	c.3365T>C	c.(3364-3366)cTg>cCg	p.L1122P	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.L1025P|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1122					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AGCAGGGAGCAGAACTGGGGA	0.567																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(3073-3075)cTg>cCg		spalt-like transcription factor 1							88.0	75.0	79.0					16																	51172768		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51172768A>G	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.3365T>C	16.37:g.51172768A>G	ENSP00000251020:p.Leu1122Pro					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L1122P	p.L1025P	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	3505	-		all_cancers(37;0.0322)	1122					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.3074T>C	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	A	19.46	3.831723	0.71258	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.07567	3.18;3.19	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.20455	0.0492	L	0.39245	1.2	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	T	0.01242	-1.1408	10	0.33940	T	0.23	.	15.4691	0.75426	1.0:0.0:0.0:0.0	.	1122	Q9NSC2	SALL1_HUMAN	P	1122;1025;1086	ENSP00000251020:L1122P;ENSP00000407914:L1025P	ENSP00000251020:L1122P	L	-	2	0	SALL1	49730269	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	9.329000	0.96413	2.046000	0.60703	0.460000	0.39030	CTG		0.567	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		16	37	0	0	0	1	0	16	37				
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170018	20170018	+	RNA	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr15:20170018C>G	ENST00000338912.5	-	0	253									immunoglobulin heavy variable 1/OR15-9 (non-functional)									p.G85A(1)									GGTGACTCTGCCCTGGAACTT	0.547																																						ENST00000338912.5																			1	Substitution - Missense(1)	p.G85A(1)	lung(1)																	171.0	166.0	167.0					15																	20170018		2107	4229	6336			0							g.chr15:20170018C>G	L25542		15q11.1	2013-10-18	2008-08-22		ENSG00000188403	ENSG00000188403		"""Immunoglobulins / IGH orphons"""	5569	other	immunoglobulin gene			"""immunoglobulin heavy variable 1/OR15-9"", ""V-set and immunoglobulin domain containing 7"""	VSIG7		7959766	Standard	NG_032069		Approved	IGHV1/OR15-9, IGHV1OR159			OTTHUMG00000171652		15.37:g.20170018C>G														0	253	-									RNA	SNP	ENST00000338912.5	37																																																																																						0.547	IGHV1OR15-9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000414646.4			3	145	0	0	0	1	0	3	145				
PRG4	10216	broad.mit.edu	37	1	186276981	186276981	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:186276981A>G	ENST00000445192.2	+	7	2175	c.2130A>G	c.(2128-2130)aaA>aaG	p.K710K	PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	710	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTACCCCTAAAGGGACTGCTC	0.582																																						ENST00000445192.2																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						c.(2128-2130)aaA>aaG		proteoglycan 4							162.0	175.0	171.0					1																	186276981		2203	4300	6503	SO:0001819	synonymous_variant	10216				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity	g.chr1:186276981A>G	U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.2130A>G	1.37:g.186276981A>G						PRG4_ENST00000367486.3_Silent_p.K667K|PRG4_ENST00000367485.4_Silent_p.K617K|PRG4_ENST00000367483.4_Silent_p.K669K|PRG4_ENST00000367484.3_Intron	p.K710K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN			7	2175	+			710			59 X 8 AA repeats of K-X-P-X-P-T-T-X.		Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Silent	SNP	ENST00000445192.2	37	c.2130A>G	CCDS1369.1																																																																																				0.582	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807		4	92	0	0	0	1	0	4	92				
YLPM1	56252	broad.mit.edu	37	14	75266297	75266297	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr14:75266297G>A	ENST00000325680.7	+	5	4421	c.4297G>A	c.(4297-4299)Gat>Aat	p.D1433N	YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1238					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GATGGGGTCCGATGCAAGCTT	0.483																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(4297-4299)Gat>Aat		YLP motif containing 1							132.0	123.0	126.0					14																	75266297		1946	4146	6092	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75266297G>A	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000325680.7:c.4297G>A	14.37:g.75266297G>A	ENSP00000324463:p.Asp1433Asn					YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Missense_Mutation_p.D1238N	p.D1433N	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	5	4421	+			1238					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000325680.7	37	c.4297G>A	CCDS45135.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.675640	0.88445	.	.	ENSG00000119596	ENST00000325680;ENST00000238571;ENST00000423680	.	.	.	5.96	5.02	0.67125	.	0.185586	0.37437	N	0.002100	T	0.41650	0.1168	L	0.36672	1.1	0.39719	D	0.971449	P	0.48230	0.907	B	0.37304	0.246	T	0.48525	-0.9028	9	0.49607	T	0.09	-12.4889	15.1719	0.72881	0.0:0.2569:0.743:0.0	.	1433	P49750-4	.	N	1433;1238;1146	.	ENSP00000238571:D1238N	D	+	1	0	YLPM1	74336050	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.031000	0.49728	2.826000	0.97356	0.637000	0.83480	GAT		0.483	YLPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404451.1	NM_019589		4	139	0	0	0	1	0	4	139				
ATP8B3	148229	broad.mit.edu	37	19	1789573	1789573	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:1789573C>A	ENST00000310127.6	-	23	2870	c.2632G>T	c.(2632-2634)Gct>Tct	p.A878S	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A888S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	878					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCGGTGCAGCCAGCGGGAGC	0.692																																						ENST00000539485.1																			0				central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23						c.(2662-2664)Gct>Tct		ATPase, aminophospholipid transporter, class I, type 8B, member 3							6.0	8.0	8.0					19																	1789573		1888	4019	5907	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1789573C>A	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.2632G>T	19.37:g.1789573C>A	ENSP00000311336:p.Ala878Ser					ATP8B3_ENST00000310127.6_Missense_Mutation_p.A878S|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A841S	p.A888S			O60423	AT8B3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2895	-		Hepatocellular(1079;0.137)	878					Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.2662G>T	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	C	5.747	0.322322	0.10900	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.58210	0.35;0.49;0.46	2.43	-4.87	0.03123	HAD-like domain (1);	5.433850	0.00616	N	0.000422	T	0.18841	0.0452	N	0.00500	-1.43	0.09310	N	1	B;B	0.18610	0.029;0.01	B;B	0.18561	0.014;0.022	T	0.26849	-1.0091	10	0.62326	D	0.03	.	2.6822	0.05096	0.1272:0.471:0.255:0.1468	.	878;841	O60423;Q7Z485	AT8B3_HUMAN;.	S	878;888;841	ENSP00000311336:A878S;ENSP00000443574:A888S;ENSP00000437115:A841S	ENSP00000311336:A878S	A	-	1	0	ATP8B3	1740573	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.473000	0.02339	-2.084000	0.00866	-1.360000	0.01215	GCT		0.692	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		2	1	1	0	0.0784	1	0.0827556	2	1				
GAD2	2572	broad.mit.edu	37	10	26575312	26575312	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:26575312C>G	ENST00000376261.3	+	13	1778	c.1275C>G	c.(1273-1275)taC>taG	p.Y425*	GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	425					glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|cell junction (GO:0030054)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGCCTCCTACCTCTTTCAGC	0.393																																						ENST00000376261.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						c.(1273-1275)taC>taG		glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	L-Glutamic Acid(DB00142)						129.0	111.0	117.0					10																	26575312		2203	4300	6503	SO:0001587	stop_gained	2572				glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding	g.chr10:26575312C>G	AJ251501	CCDS7149.1	10p13-p11.2	2003-11-11	2002-08-29		ENSG00000136750	ENSG00000136750	4.1.1.15		4093	protein-coding gene	gene with protein product		138275	"""glutamate decarboxylase 2 (pancreatic islets and brain, 65kD)"""			2039509	Standard	NM_000818		Approved	GAD65	uc001isp.2	Q05329	OTTHUMG00000017836	ENST00000376261.3:c.1275C>G	10.37:g.26575312C>G	ENSP00000365437:p.Tyr425*					GAD2_ENST00000259271.3_Nonsense_Mutation_p.Y425*	p.Y425*	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN			13	1778	+			425					Q9UD87	Nonsense_Mutation	SNP	ENST00000376261.3	37	c.1275C>G	CCDS7149.1	.	.	.	.	.	.	.	.	.	.	C	38	6.794103	0.97845	.	.	ENSG00000136750	ENST00000376261;ENST00000259271	.	.	.	4.98	4.08	0.47627	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-15.5209	13.1568	0.59522	0.0:0.9228:0.0:0.0772	.	.	.	.	X	425	.	ENSP00000259271:Y425X	Y	+	3	2	GAD2	26615318	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.777000	0.55364	1.092000	0.41356	0.655000	0.94253	TAC		0.393	GAD2-001	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047255.1	NM_000818		29	39	0	0	0	1	0	29	39				
MRPL47	57129	broad.mit.edu	37	3	179320488	179320488	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:179320488C>A	ENST00000476781.1	-	2	225	c.196G>T	c.(196-198)Gaa>Taa	p.E66*	NDUFB5_ENST00000472629.1_5'Flank|NDUFB5_ENST00000493866.1_5'Flank|MRPL47_ENST00000392659.2_Intron|NDUFB5_ENST00000259037.3_5'Flank|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	mitochondrial ribosomal protein L47	66					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)			TCAAAAAATTCTTCTAGTCCT	0.373																																						ENST00000476781.1																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1)	11						c.(196-198)Gaa>Taa		mitochondrial ribosomal protein L47							88.0	96.0	93.0					3																	179320488		2203	4300	6503	SO:0001587	stop_gained	57129				translation	mitochondrial ribosome	structural constituent of ribosome	g.chr3:179320488C>A	AF285120	CCDS3232.1, CCDS3233.1	3q26.33	2012-11-14			ENSG00000136522	ENSG00000136522		"""Mitochondrial ribosomal proteins / large subunits"""	16652	protein-coding gene	gene with protein product	"""nasopharyngeal carcinoma metastasis-related 1"""	611852				11551941	Standard	NM_177988		Approved	CGI-204, NCM1	uc003fjz.3	Q9HD33	OTTHUMG00000157784	ENST00000476781.1:c.196G>T	3.37:g.179320488C>A	ENSP00000417602:p.Glu66*					MRPL47_ENST00000392659.2_Intron|MRPL47_ENST00000259038.2_Nonsense_Mutation_p.E46*	p.E66*	NM_020409.2	NP_065142.2	Q9HD33	RM47_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		2	225	-	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		66					Q6XRG1|Q8N5D1	Nonsense_Mutation	SNP	ENST00000476781.1	37	c.196G>T	CCDS3232.1	.	.	.	.	.	.	.	.	.	.	C	37	6.112409	0.97296	.	.	ENSG00000136522	ENST00000476781;ENST00000259038	.	.	.	5.94	5.94	0.96194	.	0.183136	0.45867	D	0.000321	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-25.849	19.1451	0.93461	0.0:1.0:0.0:0.0	.	.	.	.	X	66;46	.	ENSP00000259038:E46X	E	-	1	0	MRPL47	180803182	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.493000	0.66899	2.820000	0.97059	0.650000	0.86243	GAA		0.373	MRPL47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349623.1	NM_020409		27	44	1	0	3.65163e-15	1	4.24781e-15	27	44				
SRGAP1	57522	broad.mit.edu	37	12	64491145	64491145	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr12:64491145T>G	ENST00000355086.3	+	15	2327	c.1803T>G	c.(1801-1803)atT>atG	p.I601M	SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	601	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ACGATCTGATTTCTTGTATCA	0.428																																						ENST00000355086.3																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(1801-1803)atT>atG		SLIT-ROBO Rho GTPase activating protein 1							85.0	83.0	84.0					12																	64491145		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64491145T>G	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1803T>G	12.37:g.64491145T>G	ENSP00000347198:p.Ile601Met					SRGAP1_ENST00000357825.3_Missense_Mutation_p.I578M|RP11-196H14.2_ENST00000535594.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.I538M	p.I601M	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	15	2327	+			601			Rho-GAP.		Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.1803T>G	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	T	11.56	1.676014	0.29783	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.20463	2.07;2.07;2.07	5.48	5.48	0.80851	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.35436	U	0.003204	T	0.19485	0.0468	L	0.37630	1.12	0.51767	D	0.999934	B;B	0.26445	0.149;0.063	B;B	0.34779	0.189;0.06	T	0.08229	-1.0732	9	.	.	.	.	11.0338	0.47789	0.1387:0.0:0.0:0.8613	.	601;538	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	M	601;578;538	ENSP00000347198:I601M;ENSP00000350480:I578M;ENSP00000437948:I538M	.	I	+	3	3	SRGAP1	62777412	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.975000	0.29449	2.206000	0.71126	0.533000	0.62120	ATT		0.428	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1			15	29	0	0	0	1	0	15	29				
KIAA1217	56243	broad.mit.edu	37	10	24669920	24669920	+	Silent	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr10:24669920T>C	ENST00000376454.3	+	3	507	c.477T>C	c.(475-477)ccT>ccC	p.P159P	KIAA1217_ENST00000376462.1_Silent_p.P79P|KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376452.3_Silent_p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	159					embryonic skeletal system development (GO:0048706)	cytoplasm (GO:0005737)				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCAACCCCTTTTTCCAGAG	0.542																																						ENST00000376454.3																			0				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						c.(475-477)ccT>ccC		KIAA1217							62.0	63.0	63.0					10																	24669920		2203	4300	6503	SO:0001819	synonymous_variant	56243				embryonic skeletal system development	cytoplasm		g.chr10:24669920T>C	BX640796	CCDS31165.1, CCDS41496.1, CCDS60501.1, CCDS60502.1, CCDS60504.1, CCDS60505.1	10p12.31	2009-09-16			ENSG00000120549	ENSG00000120549			25428	protein-coding gene	gene with protein product	"""sickle tail"""					10574462	Standard	XM_005252500		Approved	DKFZP761L0424, SKT	uc001iru.4	Q5T5P2	OTTHUMG00000017824	ENST00000376454.3:c.477T>C	10.37:g.24669920T>C						KIAA1217_ENST00000458595.1_Silent_p.P159P|KIAA1217_ENST00000430453.2_Silent_p.P80P|KIAA1217_ENST00000376452.3_Silent_p.P159P|KIAA1217_ENST00000376462.1_Silent_p.P79P	p.P159P	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN			3	507	+			159					A5LHW9|A6NLF3|A6PVQ5|A6PVQ6|A6PVQ7|B9EGK4|Q4KMG4|Q5T5P3|Q5T7H3|Q6MZZ6|Q6ZUI4|Q8WV45|Q9NSR2|Q9ULK3	Silent	SNP	ENST00000376454.3	37	c.477T>C	CCDS31165.1																																																																																				0.542	KIAA1217-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047223.2	NM_019590		3	63	0	0	0	1	0	3	63				
COL18A1	80781	broad.mit.edu	37	21	46900696	46900696	+	Missense_Mutation	SNP	G	G	A	rs367836626		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr21:46900696G>A	ENST00000359759.4	+	12	2801	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N|COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	927	Triple-helical region 3 (COL3).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGGTGAACAGCTCCGACGTC	0.721																																						ENST00000359759.4																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2779-2781)aGc>aAc		collagen, type XVIII, alpha 1		G	ASN/SER,ASN/SER	0,3846		0,0,1923	20.0	26.0	24.0		2075,1535	4.0	0.2	21		24	1,8223		0,1,4111	no	missense,missense	COL18A1	NM_030582.3,NM_130445.2	46,46	0,1,6034	AA,AG,GG		0.0122,0.0,0.0083	possibly-damaging,possibly-damaging	692/1520,512/1340	46900696	1,12069	1923	4112	6035	SO:0001583	missense	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46900696G>A		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.2780G>A	21.37:g.46900696G>A	ENSP00000352798:p.Ser927Asn					COL18A1_ENST00000355480.5_Missense_Mutation_p.S692N|COL18A1_ENST00000400337.2_Missense_Mutation_p.S512N	p.S927N			P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	12	2801	+			927			Triple-helical region 3 (COL3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	ENST00000359759.4	37	c.2780G>A		.	.	.	.	.	.	.	.	.	.	G	10.99	1.508000	0.27036	0.0	1.22E-4	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645	D;D;D	0.90900	-2.73;-2.75;-2.62	4.04	4.04	0.47022	.	0.527792	0.18619	N	0.135904	D	0.85279	0.5660	L	0.27053	0.805	0.09310	N	1	P;B;B	0.38711	0.643;0.361;0.241	B;B;B	0.40901	0.343;0.232;0.104	T	0.78471	-0.2191	10	0.44086	T	0.13	.	12.1016	0.53788	0.0:0.0:1.0:0.0	.	927;692;512	P39060;P39060-1;P39060-2	COIA1_HUMAN;.;.	N	512;512;692;927;927	ENSP00000383191:S512N;ENSP00000347665:S692N;ENSP00000352798:S927N	ENSP00000347665:S692N	S	+	2	0	COL18A1	45725124	0.029000	0.19370	0.238000	0.24106	0.062000	0.15995	1.572000	0.36461	1.985000	0.57927	0.555000	0.69702	AGC		0.721	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1			13	17	0	0	0	1	0	13	17				
ERICH3	127254	broad.mit.edu	37	1	75072309	75072309	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:75072309C>T	ENST00000326665.5	-	10	1683	c.1465G>A	c.(1465-1467)Gac>Aac	p.D489N	C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		489	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCCTGGTCGTCTTCCAAG	0.358																																						ENST00000326665.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						c.(1465-1467)Gac>Aac		chromosome 1 open reading frame 173							179.0	178.0	178.0					1																	75072309		2202	4299	6501	SO:0001583	missense	127254							g.chr1:75072309C>T																												ENST00000326665.5:c.1465G>A	1.37:g.75072309C>T	ENSP00000322609:p.Asp489Asn					C1orf173_ENST00000420661.2_Missense_Mutation_p.D292N|RP4-612J11.1_ENST00000416017.1_RNA	p.D489N	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN			10	1683	-			489			Glu-rich.		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	ENST00000326665.5	37	c.1465G>A	CCDS30755.1	.	.	.	.	.	.	.	.	.	.	C	7.467	0.645916	0.14451	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18174	2.69;2.23	5.15	-1.76	0.08006	.	.	.	.	.	T	0.03651	0.0104	L	0.42245	1.32	0.09310	N	1	B;D	0.53151	0.116;0.958	B;B	0.38954	0.017;0.286	T	0.34725	-0.9817	9	0.30078	T	0.28	-2.4118	4.7357	0.12986	0.328:0.3524:0.0:0.3196	.	292;489	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	N	489;292	ENSP00000322609:D489N;ENSP00000398581:D292N	ENSP00000322609:D489N	D	-	1	0	C1orf173	74844897	0.000000	0.05858	0.010000	0.14722	0.116000	0.19942	-0.173000	0.09854	-0.254000	0.09500	0.655000	0.94253	GAC		0.358	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026516.1			32	50	0	0	0	1	0	32	50				
ZSCAN29	146050	broad.mit.edu	37	15	43654116	43654116	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr15:43654116C>A	ENST00000396976.2	-	5	1848	c.1714G>T	c.(1714-1716)Gaa>Taa	p.E572*	ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I|ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	572					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GAATTATCTTCATTCTCAAAT	0.343																																						ENST00000396976.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24						c.(1714-1716)Gaa>Taa		zinc finger and SCAN domain containing 29							55.0	59.0	58.0					15																	43654116		2201	4299	6500	SO:0001587	stop_gained	146050				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:43654116C>A	AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.1714G>T	15.37:g.43654116C>A	ENSP00000380174:p.Glu572*					ZSCAN29_ENST00000568898.1_Nonsense_Mutation_p.E182*|ZSCAN29_ENST00000396972.1_Nonsense_Mutation_p.E183*|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.M500I	p.E572*	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN		GBM - Glioblastoma multiforme(94;8.97e-07)	5	1848	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	572					B3KVB9|Q32M75|Q32M76|Q8NA40	Nonsense_Mutation	SNP	ENST00000396976.2	37	c.1714G>T	CCDS10095.2	.	.	.	.	.	.	.	.	.	.	C	18.22	3.575646	0.65878	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	.	.	.	4.87	3.88	0.44766	.	0.196476	0.36167	N	0.002757	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-14.9061	5.7496	0.18140	0.0:0.7927:0.0:0.2073	.	.	.	.	X	572;183	.	ENSP00000380170:E183X	E	-	1	0	ZSCAN29	41441408	0.887000	0.30362	1.000000	0.80357	0.876000	0.50452	0.878000	0.28126	2.521000	0.84997	0.655000	0.94253	GAA		0.343	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253278.1	NM_152455		3	48	1	0	1	1	1	3	48				
ILKAP	80895	broad.mit.edu	37	2	239096826	239096826	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:239096826G>A	ENST00000254654.3	-	5	546	c.371C>T	c.(370-372)gCc>gTc	p.A124V		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	124	PP2C-like.				protein dephosphorylation (GO:0006470)|regulation of nuclear cell cycle DNA replication (GO:0033262)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		GATGACGTGGGCATCCTGCAT	0.542																																						ENST00000254654.3																			0				endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(370-372)gCc>gTc		integrin-linked kinase-associated serine/threonine phosphatase							141.0	99.0	113.0					2																	239096826		2203	4300	6503	SO:0001583	missense	80895					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding	g.chr2:239096826G>A	AY024365	CCDS2526.1	2q37.3	2012-04-17	2010-10-25		ENSG00000132323	ENSG00000132323	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	15566	protein-coding gene	gene with protein product			"""integrin-linked kinase-associated serine/threonine phosphatase 2C"""				Standard	NM_030768		Approved	DKFZP434J2031, FLJ10181	uc002vxv.3	Q9H0C8	OTTHUMG00000133334	ENST00000254654.3:c.371C>T	2.37:g.239096826G>A	ENSP00000254654:p.Ala124Val						p.A124V	NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)	5	546	-		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)	124			PP2C-like.		B3KM39	Missense_Mutation	SNP	ENST00000254654.3	37	c.371C>T	CCDS2526.1	.	.	.	.	.	.	.	.	.	.	G	33	5.213390	0.95069	.	.	ENSG00000132323	ENST00000254654;ENST00000457149	T;T	0.11277	2.79;2.79	5.84	5.84	0.93424	Protein phosphatase 2C-like (5);	0.000000	0.85682	D	0.000000	T	0.27454	0.0674	M	0.72479	2.2	0.80722	D	1	B	0.34103	0.437	P	0.46299	0.511	T	0.00638	-1.1632	10	0.87932	D	0	.	18.9061	0.92462	0.0:0.0:1.0:0.0	.	124	Q9H0C8	ILKAP_HUMAN	V	124;122	ENSP00000254654:A124V;ENSP00000395301:A122V	ENSP00000254654:A124V	A	-	2	0	ILKAP	238761565	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.657000	0.83745	2.765000	0.95021	0.655000	0.94253	GCC		0.542	ILKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257163.2	NM_030768		21	18	0	0	0	1	0	21	18				
BAG6	7917	broad.mit.edu	37	6	31614196	31614196	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr6:31614196G>A	ENST00000375964.6	-	8	1224	c.911C>T	c.(910-912)gCt>gTt	p.A304V	BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000470875.1_5'Flank|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V|BAG6_ENST00000404765.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V	NM_004639.3|NM_080703.2	NP_004630.3|NP_542434.1	P46379	BAG6_HUMAN	BCL2-associated athanogene 6	304	4 X 29 AA approximate repeats.				brain development (GO:0007420)|cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|embryo development (GO:0009790)|immune system process (GO:0002376)|internal peptidyl-lysine acetylation (GO:0018393)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|kidney development (GO:0001822)|lung development (GO:0030324)|negative regulation of apoptotic process (GO:0043066)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|negative regulation of proteolysis (GO:0045861)|protein stabilization (GO:0050821)|regulation of cell proliferation (GO:0042127)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)|ubiquitin-dependent protein catabolic process (GO:0006511)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)|proteasome binding (GO:0070628)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						CGTGGTGGCAGCAGCACCCAG	0.572																																						ENST00000404765.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(2)|pancreas(2)|skin(3)|urinary_tract(2)	36						c.(892-894)gCt>gTt		BCL2-associated athanogene 6							118.0	111.0	114.0					6																	31614196		1511	2709	4220	SO:0001583	missense	7917				apoptosis in response to endoplasmic reticulum stress|brain development|cell differentiation|chromatin modification|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|embryo development|internal peptidyl-lysine acetylation|kidney development|lung development|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|protein stabilization|spermatogenesis|synaptonemal complex assembly|tail-anchored membrane protein insertion into ER membrane|transport|ubiquitin-dependent protein catabolic process	BAT3 complex|nucleus	polyubiquitin binding|proteasome binding|ribosome binding	g.chr6:31614196G>A	M31294	CCDS4709.1, CCDS47403.1, CCDS56414.1, CCDS56415.1	6p21.3	2011-06-14	2010-12-09	2010-12-09	ENSG00000204463	ENSG00000204463			13919	protein-coding gene	gene with protein product		142590	"""HLA-B associated transcript 3"""	BAT3		2156268	Standard	NM_004639		Approved	G3, D6S52E	uc003nvf.4	P46379	OTTHUMG00000031171	ENST00000375964.6:c.911C>T	6.37:g.31614196G>A	ENSP00000365131:p.Ala304Val					BAG6_ENST00000375964.6_Missense_Mutation_p.A304V|BAG6_ENST00000439687.2_Missense_Mutation_p.A298V|BAG6_ENST00000211379.5_Missense_Mutation_p.A298V|BAG6_ENST00000362049.6_Missense_Mutation_p.A298V|BAG6_ENST00000375976.4_Missense_Mutation_p.A298V	p.A298V			P46379	BAG6_HUMAN			8	1182	-			304			4 X 29 AA approximate repeats.		A2ADJ7|A3KQ42|A3KQ44|A6NGY6|A6PWF7|B0UX84|B4DZ12|B4E3V4|E7EMZ4|F8VXY4|O95874|Q5HYL9|Q5SQ35|Q5SQ36|Q5SQ37|Q5SQ41|Q5SRP8|Q5SRP9|Q5STC1|Q5STX1|Q5STX3|Q96SA6|Q9BCN4	Missense_Mutation	SNP	ENST00000375964.6	37	c.893C>T	CCDS47403.1	.	.	.	.	.	.	.	.	.	.	G	18.91	3.724273	0.68959	.	.	ENSG00000204463	ENST00000375976;ENST00000375964;ENST00000211379;ENST00000404765;ENST00000439687;ENST00000362049;ENST00000437771;ENST00000435080	T;T;T;T;T;T;T	0.56444	1.06;1.01;1.06;1.06;0.48;1.09;0.46	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.60958	0.2309	L	0.54323	1.7	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.997;0.999;0.999;0.963;0.996	D;D;D;D;D	0.87578	0.992;0.994;0.998;0.966;0.986	T	0.55933	-0.8062	10	0.30854	T	0.27	.	17.6651	0.88201	0.0:0.0:1.0:0.0	.	298;298;298;304;298	E7EMZ4;F8VXY4;B0UX85;P46379;P46379-2	.;.;.;BAG6_HUMAN;.	V	298;304;298;298;298;298;298;298	ENSP00000365143:A298V;ENSP00000365131:A304V;ENSP00000211379:A298V;ENSP00000384494:A298V;ENSP00000402856:A298V;ENSP00000354875:A298V;ENSP00000397978:A298V	ENSP00000211379:A298V	A	-	2	0	BAG6	31722175	1.000000	0.71417	0.387000	0.26183	0.131000	0.20780	7.677000	0.84024	2.470000	0.83445	0.563000	0.77884	GCT		0.572	BAG6-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_080703		3	73	0	0	0	1	0	3	73				
DLK2	65989	broad.mit.edu	37	6	43418675	43418675	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr6:43418675G>A	ENST00000357338.3	-	6	1454	c.754C>T	c.(754-756)Cct>Tct	p.P252S	DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S|DLK2_ENST00000372488.3_Missense_Mutation_p.P252S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	252					negative regulation of Notch signaling pathway (GO:0045746)|regulation of fat cell differentiation (GO:0045598)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCTGGGACAGGTAAGACAAGC	0.672																																						ENST00000357338.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7						c.(754-756)Cct>Tct		delta-like 2 homolog (Drosophila)							56.0	61.0	59.0					6																	43418675		2203	4300	6503	SO:0001583	missense	65989					integral to membrane	calcium ion binding	g.chr6:43418675G>A	AK055380	CCDS4897.1, CCDS75461.1	6p21.1	2008-02-05	2007-07-05	2007-07-05	ENSG00000171462	ENSG00000171462			21113	protein-coding gene	gene with protein product			"""EGF-like-domain, multiple 9"""	EGFL9			Standard	NM_001286656		Approved	MGC2487	uc003ovb.3	Q6UY11	OTTHUMG00000014735	ENST00000357338.3:c.754C>T	6.37:g.43418675G>A	ENSP00000349893:p.Pro252Ser					DLK2_ENST00000372485.1_Missense_Mutation_p.P246S|DLK2_ENST00000372488.3_Missense_Mutation_p.P252S|DLK2_ENST00000414245.1_Missense_Mutation_p.P246S	p.P252S	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		6	1454	-	all_lung(25;0.00536)		252					B3KNZ7|Q5T3T8|Q9BQ54	Missense_Mutation	SNP	ENST00000357338.3	37	c.754C>T	CCDS4897.1	.	.	.	.	.	.	.	.	.	.	G	10.45	1.352294	0.24512	.	.	ENSG00000171462	ENST00000372485;ENST00000372488;ENST00000357338;ENST00000414245	D;D;D;D	0.89485	-2.52;-2.47;-2.47;-2.52	4.94	4.94	0.65067	.	0.145360	0.47852	D	0.000205	D	0.88706	0.6509	L	0.29908	0.895	0.47778	D	0.999515	D	0.89917	1.0	D	0.80764	0.994	D	0.86522	0.1816	10	0.25106	T	0.35	.	18.5187	0.90944	0.0:0.0:1.0:0.0	.	252	Q6UY11	DLK2_HUMAN	S	246;252;252;246	ENSP00000361563:P246S;ENSP00000361566:P252S;ENSP00000349893:P252S;ENSP00000398906:P246S	ENSP00000349893:P252S	P	-	1	0	DLK2	43526653	0.514000	0.26202	0.667000	0.29798	0.089000	0.18198	1.471000	0.35365	2.454000	0.82982	0.462000	0.41574	CCT		0.672	DLK2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040618.1	NM_023932		34	60	0	0	0	1	0	34	60				
CNTNAP4	85445	broad.mit.edu	37	16	76532484	76532484	+	Missense_Mutation	SNP	T	T	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr16:76532484T>C	ENST00000476707.1	+	14	2406	c.2267T>C	c.(2266-2268)cTt>cCt	p.L756P	CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000307431.8_Missense_Mutation_p.L752P			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	753	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|regulation of grooming behavior (GO:2000821)|regulation of synaptic transmission, dopaminergic (GO:0032225)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ACTGGATTGCTTGCTTATAAA	0.393																																						ENST00000307431.8																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						c.(2254-2256)cTt>cCt		contactin associated protein-like 4							85.0	78.0	80.0					16																	76532484		1960	4202	6162	SO:0001583	missense	85445				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr16:76532484T>C	AB051550	CCDS10924.1, CCDS10924.2, CCDS73915.1	16q23.1	2008-02-05			ENSG00000152910	ENSG00000152910			18747	protein-coding gene	gene with protein product		610518				12093160	Standard	NM_033401		Approved	CASPR4, KIAA1763	uc010chb.1	Q9C0A0	OTTHUMG00000137617	ENST00000476707.1:c.2267T>C	16.37:g.76532484T>C	ENSP00000417628:p.Leu756Pro					CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L680P|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L704P|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L756P	p.L752P	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN			16	2640	+			753			Fibrinogen C-terminal.		E9PFZ6|Q86YZ7	Missense_Mutation	SNP	ENST00000476707.1	37	c.2255T>C		.	.	.	.	.	.	.	.	.	.	T	19.34	3.809488	0.70797	.	.	ENSG00000152910	ENST00000307431;ENST00000377504;ENST00000478060;ENST00000476707	T;T;T;T	0.24723	1.84;1.84;1.84;1.84	4.93	4.93	0.64822	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (1);	0.000000	0.37530	N	0.002046	T	0.52025	0.1709	.	.	.	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.75484	0.986;0.977;0.959	T	0.57843	-0.7741	9	0.87932	D	0	.	14.7099	0.69222	0.0:0.0:0.0:1.0	.	680;756;753	E9PFZ6;E9PDN6;Q9C0A0	.;.;CNTP4_HUMAN	P	752;704;680;756	ENSP00000306893:L752P;ENSP00000439733:L704P;ENSP00000418741:L680P;ENSP00000417628:L756P	ENSP00000306893:L752P	L	+	2	0	CNTNAP4	75089985	1.000000	0.71417	0.999000	0.59377	0.833000	0.47200	7.806000	0.86020	2.199000	0.70637	0.528000	0.53228	CTT		0.393	CNTNAP4-005	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000348216.1	NM_033401		17	19	0	0	0	1	0	17	19				
PAPD7	11044	broad.mit.edu	37	5	6738818	6738818	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr5:6738818G>A	ENST00000230859.6	+	3	242	c.113G>A	c.(112-114)aGt>aAt	p.S38N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	268	Ala-rich.				double-strand break repair (GO:0006302)|mitotic chromosome condensation (GO:0007076)|response to drug (GO:0042493)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|SMC family protein binding (GO:0043221)			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGCAGCTTTAGTACAGGTCTT	0.418																																					NSCLC(7;212 333 5667 23379 46547)	ENST00000230859.6																			0				cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(112-114)aGt>aAt		PAP associated domain containing 7							217.0	225.0	223.0					5																	6738818		2203	4300	6503	SO:0001583	missense	11044				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	g.chr5:6738818G>A	AF089896	CCDS3871.1	5p15	2010-11-18	2010-01-19	2010-01-19	ENSG00000112941	ENSG00000112941			16705	protein-coding gene	gene with protein product	"""topoisomerase-related function protein 4-1"", ""polymerase (DNA-directed) sigma"", ""DNA polymerase kappa"", ""TUTase5"""	605198	"""polymerase (DNA directed) sigma"""	POLS		10066793, 10926539	Standard	NM_006999		Approved	POLK, TRF4, LAK-1, TRF4-1	uc003jdx.1	Q5XG87	OTTHUMG00000090457	ENST00000230859.6:c.113G>A	5.37:g.6738818G>A	ENSP00000230859:p.Ser38Asn						p.S38N	NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN			3	242	+			38					A8K1E2|M1JCE6|O43289|Q17RZ1|Q9Y6C1	Missense_Mutation	SNP	ENST00000230859.6	37	c.113G>A	CCDS3871.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.139746	0.77775	.	.	ENSG00000112941	ENST00000230859	T	0.43688	0.94	4.84	4.84	0.62591	Nucleotidyl transferase domain (1);	0.000000	0.85682	D	0.000000	T	0.42177	0.1191	L	0.60067	1.865	0.48696	D	0.99969	P;P	0.37548	0.599;0.599	B;B	0.42062	0.374;0.27	T	0.19943	-1.0290	10	0.23891	T	0.37	-7.5591	11.7929	0.52080	0.0811:0.0:0.9189:0.0	.	38;38	B7ZLL4;Q5XG87	.;PAPD7_HUMAN	N	38	ENSP00000230859:S38N	ENSP00000230859:S38N	S	+	2	0	PAPD7	6791818	1.000000	0.71417	0.966000	0.40874	0.998000	0.95712	5.835000	0.69368	2.386000	0.81285	0.563000	0.77884	AGT		0.418	PAPD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206904.1	NM_006999		84	112	0	0	0	1	0	84	112				
LAMB1	3912	broad.mit.edu	37	7	107569561	107569561	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr7:107569561G>A	ENST00000222399.6	-	31	5065	c.4835C>T	c.(4834-4836)gCa>gTa	p.A1612V	LAMB1_ENST00000474380.1_5'Flank|LAMB1_ENST00000393561.1_Missense_Mutation_p.A1636V	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	1612	Domain I.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						TTGTTTAATTGCCTTCTCTGC	0.418																																						ENST00000393561.1																			0				NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						c.(4906-4908)gCa>gTa		laminin, beta 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						305.0	274.0	285.0					7																	107569561		2203	4300	6503	SO:0001583	missense	3912				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	g.chr7:107569561G>A	M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.4835C>T	7.37:g.107569561G>A	ENSP00000222399:p.Ala1612Val					LAMB1_ENST00000222399.6_Missense_Mutation_p.A1612V	p.A1636V			P07942	LAMB1_HUMAN			29	5091	-			1612			Domain I.		Q14D91	Missense_Mutation	SNP	ENST00000222399.6	37	c.4907C>T	CCDS5750.1	.	.	.	.	.	.	.	.	.	.	G	36	5.895026	0.97074	.	.	ENSG00000091136	ENST00000393561;ENST00000222399	T;T	0.77750	-1.12;-1.12	5.96	5.96	0.96718	Prefoldin (1);	.	.	.	.	D	0.88698	0.6507	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.987;0.988;0.996	D	0.87953	0.2725	9	0.56958	D	0.05	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	1612;1636;909	P07942;G3XAI2;Q8TAS6	LAMB1_HUMAN;.;.	V	1636;1612	ENSP00000377191:A1636V;ENSP00000222399:A1612V	ENSP00000222399:A1612V	A	-	2	0	LAMB1	107356797	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.258000	0.95555	2.832000	0.97577	0.655000	0.94253	GCA		0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314584.1	NM_002291		8	157	0	0	0	1	0	8	157				
TMEM39A	55254	broad.mit.edu	37	3	119176912	119176912	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:119176912T>G	ENST00000319172.5	-	3	709	c.289A>C	c.(289-291)Aca>Cca	p.T97P	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	97						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		CACCACACTGTTTTATAAATG	0.383																																						ENST00000319172.5																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13						c.(289-291)Aca>Cca		transmembrane protein 39A							150.0	152.0	151.0					3																	119176912		2203	4300	6503	SO:0001583	missense	55254					integral to membrane		g.chr3:119176912T>G	BC021277	CCDS2987.1	3q13.33	2005-01-10			ENSG00000176142	ENSG00000176142			25600	protein-coding gene	gene with protein product						12477932	Standard	NM_018266		Approved	FLJ10902	uc003eck.2	Q9NV64	OTTHUMG00000159361	ENST00000319172.5:c.289A>C	3.37:g.119176912T>G	ENSP00000326063:p.Thr97Pro					TMEM39A_ENST00000486159.1_5'UTR	p.T97P	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN		GBM - Glioblastoma multiforme(114;0.244)	3	709	-			97					D3DN80|Q53FN4|Q53GI1|Q6PKB5	Missense_Mutation	SNP	ENST00000319172.5	37	c.289A>C	CCDS2987.1	.	.	.	.	.	.	.	.	.	.	T	18.69	3.678293	0.68042	.	.	ENSG00000176142	ENST00000319172;ENST00000468676;ENST00000497993;ENST00000461654	T	0.61742	0.08	4.59	4.59	0.56863	.	0.051780	0.85682	D	0.000000	T	0.59729	0.2215	M	0.74467	2.265	0.80722	D	1	P	0.35208	0.49	B	0.36608	0.229	T	0.66775	-0.5838	10	0.72032	D	0.01	-8.8026	13.5892	0.61951	0.0:0.0:0.0:1.0	.	97	Q9NV64	TM39A_HUMAN	P	97	ENSP00000326063:T97P	ENSP00000326063:T97P	T	-	1	0	TMEM39A	120659602	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	7.446000	0.80609	2.045000	0.60652	0.460000	0.39030	ACA		0.383	TMEM39A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354941.3	NM_018266		4	77	0	0	0	1	0	4	77				
ZDBF2	57683	broad.mit.edu	37	2	207170677	207170677	+	Missense_Mutation	SNP	G	G	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:207170677G>T	ENST00000374423.3	+	5	1811	c.1425G>T	c.(1423-1425)caG>caT	p.Q475H		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	475							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TAAGTCTTCAGAATGCAAGGC	0.348																																						ENST00000374423.3																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(1423-1425)caG>caT		zinc finger, DBF-type containing 2							52.0	49.0	50.0					2																	207170677		1852	4099	5951	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207170677G>T	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.1425G>T	2.37:g.207170677G>T	ENSP00000363545:p.Gln475His						p.Q475H	NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN			5	1811	+			475					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.1425G>T	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	G	9.339	1.062538	0.19987	.	.	ENSG00000204186	ENST00000374423	T	0.60040	0.22	4.59	0.305	0.15801	.	1.172330	0.06530	N	0.741207	T	0.43411	0.1246	L	0.38175	1.15	0.09310	N	1	B	0.24963	0.115	B	0.19666	0.026	T	0.30765	-0.9967	10	0.45353	T	0.12	.	3.542	0.07815	0.2002:0.0:0.4577:0.3421	.	475	Q9HCK1	ZDBF2_HUMAN	H	475	ENSP00000363545:Q475H	ENSP00000363545:Q475H	Q	+	3	2	ZDBF2	206878922	0.572000	0.26668	0.001000	0.08648	0.028000	0.11728	0.765000	0.26546	-0.068000	0.12953	0.650000	0.86243	CAG		0.348	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		6	15	1	0	0.00116845	1	0.0012808	6	15				
ADAMTS12	81792	broad.mit.edu	37	5	33576475	33576475	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr5:33576475C>A	ENST00000504830.1	-	19	3991	c.3656G>T	c.(3655-3657)gGa>gTa	p.G1219V	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V|ADAMTS12_ENST00000504582.1_5'Flank	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1219	Spacer 2.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGCAGTCCTTCCATTAC	0.557										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(3655-3657)gGa>gTa		ADAM metallopeptidase with thrombospondin type 1 motif, 12							150.0	142.0	145.0					5																	33576475		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33576475C>A	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.3656G>T	5.37:g.33576475C>A	ENSP00000422554:p.Gly1219Val	HNSCC(64;0.19)				ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G1134V	p.G1219V	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			19	3991	-			1219			Spacer 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.3656G>T	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795595	0.31777	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.60672	0.19;0.17	5.18	4.3	0.51218	.	0.439260	0.24022	N	0.042268	T	0.55625	0.1932	L	0.32530	0.975	0.24770	N	0.992873	D;P	0.53619	0.961;0.935	P;P	0.54372	0.75;0.567	T	0.46978	-0.9152	10	0.40728	T	0.16	.	10.1707	0.42908	0.0:0.848:0.0:0.152	.	1134;1219	P58397-3;P58397	.;ATS12_HUMAN	V	1219;1134	ENSP00000422554:G1219V;ENSP00000344847:G1134V	ENSP00000344847:G1134V	G	-	2	0	ADAMTS12	33612232	0.241000	0.23857	0.309000	0.25155	0.225000	0.24961	0.513000	0.22770	2.679000	0.91253	0.655000	0.94253	GGA		0.557	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		48	58	1	0	1.46357e-32	1	1.73799e-32	48	58				
PARVG	64098	broad.mit.edu	37	22	44585032	44585032	+	Missense_Mutation	SNP	G	G	A	rs200000493		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr22:44585032G>A	ENST00000444313.3	+	6	770	c.286G>A	c.(286-288)Gcc>Acc	p.A96T	PARVG_ENST00000415224.1_Missense_Mutation_p.A96T|PARVG_ENST00000422871.1_Missense_Mutation_p.A96T	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	96	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				AGAGGACATCGCCCTGACAGC	0.652																																						ENST00000422871.1																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17						c.(286-288)Gcc>Acc		parvin, gamma							105.0	93.0	97.0					22																	44585032		2203	4300	6503	SO:0001583	missense	64098				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr22:44585032G>A	AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.286G>A	22.37:g.44585032G>A	ENSP00000391583:p.Ala96Thr					PARVG_ENST00000444313.2_Missense_Mutation_p.A96T|PARVG_ENST00000415224.1_Missense_Mutation_p.A96T	p.A96T	NM_001137605.1	NP_001131077.1	Q9HBI0	PARVG_HUMAN			6	710	+		Ovarian(80;0.024)|all_neural(38;0.0299)	96			CH 1.		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	ENST00000444313.3	37	c.286G>A	CCDS14057.1	.	.	.	.	.	.	.	.	.	.	G	6.297	0.422888	0.11928	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.94862	-3.54;-3.54;-3.54	4.86	2.71	0.32032	Calponin homology domain (4);	0.066647	0.64402	D	0.000012	D	0.87981	0.6315	N	0.26130	0.795	0.42608	D	0.993305	D	0.55172	0.97	P	0.47118	0.538	D	0.84913	0.0849	10	0.02654	T	1	-19.638	7.1608	0.25662	0.093:0.0:0.7309:0.1761	.	96	Q9HBI0	PARVG_HUMAN	T	96	ENSP00000391453:A96T;ENSP00000391583:A96T;ENSP00000416761:A96T	ENSP00000349378:A96T	A	+	1	0	PARVG	42916365	0.962000	0.33011	0.008000	0.14137	0.331000	0.28603	2.592000	0.46171	0.418000	0.25898	0.555000	0.69702	GCC		0.652	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318238.4	NM_022141		7	64	0	0	0	1	0	7	64				
TPTE2	93492	broad.mit.edu	37	13	20067611	20067611	+	Silent	SNP	G	G	A	rs144275026		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr13:20067611G>A	ENST00000400230.2	-	2	86	c.42C>T	c.(40-42)acC>acT	p.T14T	TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	14					phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		GTGCCTCCTCGGTTGTTCCTT	0.373													g|||	1	0.000199681	0.0008	0.0	5008	,	,		18548	0.0		0.0	False		,,,				2504	0.0					ENST00000400230.2																			0				NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(40-42)acC>acT		transmembrane phosphoinositide 3-phosphatase and tensin homolog 2		G	,,	2,4404	4.2+/-10.8	0,2,2201	120.0	112.0	115.0		42,42,42	-1.6	0.0	13	dbSNP_134	115	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	TPTE2	NM_001141968.1,NM_130785.3,NM_199254.2	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	14/412,14/446,14/523	20067611	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	93492					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr13:20067611G>A	AJ421032	CCDS9285.1, CCDS45013.1, CCDS45014.1	13q12.11	2012-12-10			ENSG00000132958	ENSG00000132958		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	17299	protein-coding gene	gene with protein product		606791				11716755, 12717346, 15057823	Standard	NM_130785		Approved	TPIP	uc001umd.3	Q6XPS3	OTTHUMG00000016493	ENST00000400230.2:c.42C>T	13.37:g.20067611G>A						TPTE2_ENST00000255310.6_Silent_p.T14T|TPTE2_ENST00000382975.4_Silent_p.T14T|TPTE2_ENST00000457266.2_Silent_p.T14T|TPTE2_ENST00000390680.2_Silent_p.T14T|TPTE2_ENST00000400103.2_Silent_p.T14T|TPTE2_ENST00000382978.1_Silent_p.T14T|TPTE2_ENST00000382977.4_Silent_p.T14T	p.T14T			Q6XPS3	TPTE2_HUMAN		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)	2	86	-		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	14					A1A4X0|A1A4X1|A8MX64|B1AQ16|B4DWZ2|Q5VUH2|Q8WWL4|Q8WWL5	Silent	SNP	ENST00000400230.2	37	c.42C>T	CCDS45014.1																																																																																				0.373	TPTE2-205	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_199254		9	57	0	0	0	1	0	9	57				
NBPF10	100132406	broad.mit.edu	37	1	145327548	145327548	+	Missense_Mutation	SNP	A	A	G	rs202019968		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr1:145327548A>G	ENST00000342960.5	+	32	4140	c.4105A>G	c.(4105-4107)Aat>Gat	p.N1369D	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	712						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GGACTCACTGAATAGATGTTA	0.473																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4105-4107)Aat>Gat		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145327548A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4105A>G	1.37:g.145327548A>G	ENSP00000345684:p.Asn1369Asp					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.N1369D	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	32	4140	+	all_hematologic(923;0.032)		1369					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4105A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.005	-2.181510	0.00308	.	.	ENSG00000163386	ENST00000342960	T	0.03301	3.98	1.5	-0.755	0.11061	.	.	.	.	.	T	0.00210	0.0006	N	0.00179	-1.91	0.09310	N	1	.	.	.	.	.	.	T	0.40608	-0.9554	7	0.02654	T	1	.	5.1791	0.15150	0.6356:0.0:0.3644:0.0	.	.	.	.	D	1369	ENSP00000345684:N1369D	ENSP00000345684:N1369D	N	+	1	0	NBPF10	144038905	0.003000	0.15002	0.004000	0.12327	0.050000	0.14768	-0.536000	0.06135	-0.488000	0.06726	-1.353000	0.01230	AAT		0.473	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		2	3	0	0	0	1	0	2	3				
TRAM1	23471	broad.mit.edu	37	8	71496023	71496023	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr8:71496023G>A	ENST00000262213.2	-	9	921	c.752C>T	c.(751-753)tCt>tTt	p.S251F	TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000521425.1_Missense_Mutation_p.S165F|TRAM1_ENST00000521049.1_5'UTR	NM_014294.5	NP_055109.1	Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	251	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			TGCCCACAGAGAAAATCTGCA	0.403																																					Ovarian(85;984 1334 5116 12432 40638)	ENST00000521425.1																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17						c.(493-495)tCt>tTt		translocation associated membrane protein 1							66.0	73.0	71.0					8																	71496023		2202	4300	6502	SO:0001583	missense	23471				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	g.chr8:71496023G>A	X63679	CCDS6207.1	8q13.1	2004-01-22			ENSG00000067167	ENSG00000067167			20568	protein-coding gene	gene with protein product		605190				1315422	Standard	NM_014294		Approved	TRAM, TRAMP	uc003xyo.2	Q15629	OTTHUMG00000164428	ENST00000262213.2:c.752C>T	8.37:g.71496023G>A	ENSP00000262213:p.Ser251Phe					TRAM1_ENST00000536748.1_Missense_Mutation_p.S220F|TRAM1_ENST00000262213.2_Missense_Mutation_p.S251F|TRAM1_ENST00000521049.1_5'UTR	p.S165F			Q15629	TRAM1_HUMAN	Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)		9	1530	-			251			TLC.		B4E0K2	Missense_Mutation	SNP	ENST00000262213.2	37	c.494C>T	CCDS6207.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174162	0.78452	.	.	ENSG00000067167	ENST00000521425;ENST00000262213;ENST00000536748	D;D;D	0.84873	-1.91;-1.91;-1.91	5.4	5.4	0.78164	TRAM/LAG1/CLN8 homology domain (3);	0.225652	0.44285	D	0.000466	D	0.89663	0.6780	L	0.59436	1.845	0.50039	D	0.999849	D	0.57899	0.981	D	0.64687	0.928	D	0.85596	0.1249	10	0.12103	T	0.63	-23.6741	19.1656	0.93555	0.0:0.0:1.0:0.0	.	251	Q15629	TRAM1_HUMAN	F	165;251;220	ENSP00000428052:S165F;ENSP00000262213:S251F;ENSP00000439359:S220F	ENSP00000262213:S251F	S	-	2	0	TRAM1	71658577	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.268000	0.65536	2.539000	0.85634	0.557000	0.71058	TCT		0.403	TRAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378738.1	NM_014294		24	24	0	0	0	1	0	24	24				
NDUFB10	4716	broad.mit.edu	37	16	2011661	2011661	+	Intron	SNP	C	C	T			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr16:2011661C>T	ENST00000268668.6	+	3	526				SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000569148.1_Intron|SNORA10_ENST00000384084.1_RNA|NDUFB10_ENST00000543683.2_Missense_Mutation_p.P145S	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						CCACCCCCAACCCCCCACCAT	0.597																																						ENST00000543683.2																			0				lung(1)|urinary_tract(1)	2						c.(433-435)Ccc>Tcc		NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	NADH(DB00157)						9.0	9.0	9.0					16																	2011661		2122	4145	6267	SO:0001627	intron_variant	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011661C>T	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.409+24C>T	16.37:g.2011661C>T						NDUFB10_ENST00000569148.1_Intron|NDUFB10_ENST00000268668.6_Intron	p.P145S			O96000	NDUBA_HUMAN			3	515	+			13					Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	c.433C>T	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	C	0.766	-0.767382	0.02974	.	.	ENSG00000140990	ENST00000543683	.	.	.	2.04	-3.18	0.05186	.	.	.	.	.	T	0.15609	0.0376	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.01281	0.0	T	0.23261	-1.0193	6	.	.	.	.	1.6492	0.02768	0.1892:0.3309:0.342:0.1379	.	145	Q96II6	.	S	145	.	.	P	+	1	0	NDUFB10	1951662	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.755000	0.04709	-1.712000	0.00714	CCC		0.597	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		4	3	0	0	0	1	0	4	3				
CCSER1	401145	broad.mit.edu	37	4	91230659	91230659	+	Silent	SNP	A	A	G			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr4:91230659A>G	ENST00000509176.1	+	2	1512	c.1224A>G	c.(1222-1224)aaA>aaG	p.K408K	CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	408																	AACATGTAAAAGGGATCCATC	0.358																																						ENST00000509176.1																			0											c.(1222-1224)aaA>aaG		coiled-coil serine-rich protein 1							116.0	113.0	114.0					4																	91230659		1861	4087	5948	SO:0001819	synonymous_variant	401145							g.chr4:91230659A>G		CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.1224A>G	4.37:g.91230659A>G						CCSER1_ENST00000432775.2_Silent_p.K408K|CCSER1_ENST00000333691.8_Silent_p.K408K	p.K408K	NM_001145065.1	NP_001138537.1					2	1512	+								Q4W5M0|Q86V57	Silent	SNP	ENST00000509176.1	37	c.1224A>G	CCDS47099.1																																																																																				0.358	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065		3	163	0	0	0	1	0	3	163				
SCTR	6344	broad.mit.edu	37	2	120223462	120223462	+	Splice_Site	SNP	G	G	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr2:120223462G>A	ENST00000019103.5	-	5	673	c.406C>T	c.(406-408)Cac>Tac	p.H136Y		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	136					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	AGGTAGGAGTGCTGCAGAGAG	0.622																																						ENST00000019103.5																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19						c.e5-1		secretin receptor	Secretin(DB00021)						133.0	97.0	109.0					2																	120223462		2203	4300	6503	SO:0001630	splice_region_variant	6344				digestion|excretion	integral to plasma membrane	secretin receptor activity	g.chr2:120223462G>A		CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.406-1C>T	2.37:g.120223462G>A							p.H136_splice	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN			5	673	-			136					Q12961|Q13213|Q53T00	Splice_Site	SNP	ENST00000019103.5	37	c.405_splice	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	G	0.011	-1.694807	0.00731	.	.	ENSG00000080293	ENST00000019103	T	0.42131	0.98	5.33	3.49	0.39957	.	0.193718	0.36740	N	0.002425	T	0.24661	0.0598	L	0.33293	1	0.38845	D	0.956143	B	0.02656	0.0	B	0.06405	0.002	T	0.13388	-1.0511	10	0.02654	T	1	.	8.0022	0.30304	0.0834:0.306:0.6106:0.0	.	136	P47872	SCTR_HUMAN	Y	136	ENSP00000019103:H136Y	ENSP00000019103:H136Y	H	-	1	0	SCTR	119939932	1.000000	0.71417	0.968000	0.41197	0.115000	0.19883	3.553000	0.53713	0.776000	0.33473	-0.175000	0.13238	CAC		0.622	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		Missense_Mutation	3	41	0	0	0	1	0	3	41				
MRAS	22808	broad.mit.edu	37	3	138117381	138117381	+	Missense_Mutation	SNP	C	C	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr3:138117381C>A	ENST00000289104.4	+	4	1065	c.418C>A	c.(418-420)Caa>Aaa	p.Q140K	MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K|MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	140					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						CACCAGGGAGCAAGGAAAAGA	0.512																																						ENST00000289104.4																			0				kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(418-420)Caa>Aaa		muscle RAS oncogene homolog							148.0	133.0	138.0					3																	138117381		2203	4300	6503	SO:0001583	missense	22808				actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity	g.chr3:138117381C>A	AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.418C>A	3.37:g.138117381C>A	ENSP00000289104:p.Gln140Lys					MRAS_ENST00000474559.1_Missense_Mutation_p.Q140K|MRAS_ENST00000464896.1_Missense_Mutation_p.Q64K|MRAS_ENST00000423968.2_Missense_Mutation_p.Q140K	p.Q140K	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN			4	1065	+			140					B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	c.418C>A	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968475	0.74131	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	L	0.28344	0.845	0.80722	D	1	B	0.34329	0.449	B	0.29524	0.103	T	0.70568	-0.4836	10	0.62326	D	0.03	.	15.1511	0.72700	0.0:1.0:0.0:0.0	.	140	O14807	RASM_HUMAN	K	140;140;64;64;140	ENSP00000289104:Q140K;ENSP00000389682:Q140K;ENSP00000417685:Q64K;ENSP00000419582:Q64K;ENSP00000418356:Q140K	ENSP00000289104:Q140K	Q	+	1	0	MRAS	139600071	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.555000	0.82223	2.149000	0.67028	0.561000	0.74099	CAA		0.512	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			3	70	1	0	0.150653	1	0.156132	3	70				
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	-	T	rs375424853		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr1:74575212_74575213insT	ENST00000395089.1	-	4	731_732	c.732_733insA	c.(730-735)aaacagfs	p.Q245fs	LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.Q137fs|LRRIQ3_ENST00000354431.4_Frame_Shift_Ins_p.Q245fs			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	245				QQEKII -> TAGKNY (in Ref. 1; BAD18621). {ECO:0000305}.						NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TTTTCCTGCTGTTTTTTTTTGT	0.327																																						ENST00000354431.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						c.(730-735)aaagcafs		leucine-rich repeats and IQ motif containing 3																																				SO:0001589	frameshift_variant	127255							g.chr1:74575212_74575213insT	BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.733dupA	1.37:g.74575221_74575221dupT	ENSP00000378524:p.Gln245fs					LRRIQ3_ENST00000395089.1_Frame_Shift_Ins_p.A245fs|LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Frame_Shift_Ins_p.A137fs	p.A245fs	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN			5	923_924	-			245	QQEKII -> TAGKNY (in Ref. 1; BAD18621).				A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Frame_Shift_Ins	INS	ENST00000395089.1	37	c.732_733insA	CCDS41350.1																																																																																				0.327	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316539.1	NM_145258		7	89						7	89	---	---	---	---
UGT2B10	7365	broad.mit.edu	37	4	69682325	69682326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr4:69682325_69682326insC	ENST00000265403.7	+	1	615_616	c.588_589insC	c.(589-591)atgfs	p.M197fs	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	197					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTGTTGTTATGTCAAAATT	0.356																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(586-591)gttgtcfs		UDP glucuronosyltransferase 2 family, polypeptide B10																																				SO:0001589	frameshift_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682325_69682326insC	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		Exception_encountered	4.37:g.69682325_69682326insC	ENSP00000265403:p.Met197fs					UGT2B10_ENST00000458688.2_Intron	p.V197fs	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			1	615_616	+			197					A8K9M3|B4DPP1|Q14CR8	Frame_Shift_Ins	INS	ENST00000265403.7	37	c.588_589insC																																																																																					0.356	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		25	39						25	39	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr11:14284600delA	ENST00000534587.1	-	0	38				SPON1_ENST00000310358.7_RNA																							GGACCTGTTTaaaaaaaaaaa	0.463																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284600delA																													11.37:g.14284600delA						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2795	+									RNA	DEL	ENST00000534587.1	37																																																																																						0.463	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			3	6						3	6	---	---	---	---
EMG1	10436	broad.mit.edu	37	12	7080212	7080213	+	Splice_Site	INS	-	-	C	rs11428482|rs374779752|rs17857448		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR|PHB2_ENST00000440277.1_5'Flank|PHB2_ENST00000535923.1_5'Flank|PHB2_ENST00000399433.2_5'Flank|PHB2_ENST00000542912.1_5'Flank|PHB2_ENST00000546111.1_5'Flank|PHB2_ENST00000544134.1_5'Flank	NM_006331.7	NP_006322.4			EMG1 N1-specific pseudouridine methyltransferase																		GAGGCCGTAGTTTATTGTGGTG	0.569																																						ENST00000546220.1																			0													EMG1 N1-specific pseudouridine methyltransferase				3746,4		1873,0,2						5.4	1.0		dbSNP_120	28	7902,2		3951,0,1	no	frameshift	EMG1	NM_006331.7		5824,0,3	A1A1,A1R,RR		0.0253,0.1067,0.0515				11648,6				SO:0001630	splice_region_variant	10436				ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding	g.chr12:7080212_7080213insC	U72514	CCDS73430.1	12p13	2013-05-22	2013-05-22			ENSG00000126749			16912	protein-coding gene	gene with protein product		611531	"""EMG1 nucleolar protein homolog (S. cerevisiae)"""			9074930, 11935223, 19463982	Standard	NM_006331		Approved	C2F, NEP1, Grcc2f	uc001qsh.4	Q92979		ENST00000261406.6:c.124-1->C	12.37:g.7080212_7080213insC						U47924.19_ENST00000564245.1_RNA|U47924.28_ENST00000261406.6_lincRNA				Q92979	NEP1_HUMAN			0	157_158	+									RNA	INS	ENST00000261406.6	37																																																																																						0.569	EMG1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_006331	Frame_Shift_Ins	7	9						7	9	---	---	---	---
OR6C75	390323	broad.mit.edu	37	12	55759486	55759486	+	Frame_Shift_Del	DEL	T	T	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:55759486delT	ENST00000343399.3	+	1	592	c.592delT	c.(592-594)tttfs	p.F199fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L200fs*1(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACTCATGGCATTTTTTTTAGC	0.393																																						ENST00000343399.3																			1	Deletion - Frameshift(1)	p.L200fs*1(1)	large_intestine(1)	endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						c.(592-594)ttfs		olfactory receptor, family 6, subfamily C, member 75							154.0	133.0	140.0					12																	55759486		2203	4300	6503	SO:0001589	frameshift_variant	390323				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55759486delT		CCDS31820.1	12q13.2	2013-09-23			ENSG00000187857	ENSG00000187857		"""GPCR / Class A : Olfactory receptors"""	31304	protein-coding gene	gene with protein product							Standard	NM_001005497		Approved		uc010spk.2	A6NL08	OTTHUMG00000169886	ENST00000343399.3:c.592delT	12.37:g.55759486delT	ENSP00000368987:p.Phe199fs						p.F199fs	NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN			1	592	+			199						Frame_Shift_Del	DEL	ENST00000343399.3	37	c.592delT	CCDS31820.1																																																																																				0.393	OR6C75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406418.1			7	81						7	81	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2272-2274)aaafs	p.K758fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.K733fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.K729fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	758	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2269-2274)ttaaaafs		ubiquitin specific peptidase 15																																				SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785633_62785634insA	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2278dupA	12.37:g.62785640_62785640dupA	ENSP00000280377:p.Lys758fs					USP15_ENST00000393654.3_Frame_Shift_Ins_p.LK732fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.LK728fs	p.LK757fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	17	2329_2330	+			757					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Ins	INS	ENST00000280377.5	37	c.2271_2272insA	CCDS58251.1																																																																																				0.277	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		23	28						23	28	---	---	---	---
AC002331.1	0	broad.mit.edu	37	16	26599065	26599068	+	lincRNA	DEL	ACAG	ACAG	-	rs71134607|rs142408431	byFrequency	TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr16:26599065_26599068delACAG	ENST00000443373.1	-	0	104																											ACATACAGACacagacagacagac	0.353																																						ENST00000443373.1																			0																																																			0							g.chr16:26599065_26599068delACAG																													16.37:g.26599073_26599076delACAG														0	104	-									RNA	DEL	ENST00000443373.1	37																																																																																						0.353	AC002331.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000133457.1			2	4						2	4	---	---	---	---
CXADRP3	440224	broad.mit.edu	37	18	14479021	14479023	+	lincRNA	DEL	ATC	ATC	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr18:14479021_14479023delATC	ENST00000581457.1	-	0	885_887					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CTGGATAGTAATCATCATAAATT	0.374																																						ENST00000581457.1																			0																																																			0							g.chr18:14479021_14479023delATC			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479024_14479026delATC								NR_024076.1						0	885_887	-									RNA	DEL	ENST00000581457.1	37																																																																																						0.374	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		5	8						5	8	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2338915	2338915	+	RNA	DEL	T	T	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-10A-01D-2115-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	bb02213c-0f97-4cea-a808-094166184ac9	g.chr19:2338915delT	ENST00000452401.2	+	0	539							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGGGGGTTTGTGCCTCA	0.682																																						ENST00000452401.2																			0													signal peptide peptidase like 2B																																						56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2338915delT		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2338915delT						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	539	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	DEL	ENST00000452401.2	37																																																																																						0.682	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		7	1						7	1	---	---	---	---
UGT2B10	7365	broad.mit.edu	37	4	69682325	69682326	+	Frame_Shift_Ins	INS	-	-	C			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr4:69682325_69682326insC	ENST00000265403.7	+	1	615_616	c.588_589insC	c.(589-591)atgfs	p.M197fs	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	197					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TACCTGTTGTTATGTCAAAATT	0.356																																					Melanoma(133;755 1763 25578 26334 46021)	ENST00000265403.7																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(586-591)gttgtcfs		UDP glucuronosyltransferase 2 family, polypeptide B10																																				SO:0001589	frameshift_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682325_69682326insC	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		Exception_encountered	4.37:g.69682325_69682326insC	ENSP00000265403:p.Met197fs					UGT2B10_ENST00000458688.2_Intron	p.V197fs	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN			1	615_616	+			197					A8K9M3|B4DPP1|Q14CR8	Frame_Shift_Ins	INS	ENST00000265403.7	37	c.588_589insC																																																																																					0.356	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		25	39						25	39	---	---	---	---
SPON1	10418	broad.mit.edu	37	11	14284600	14284600	+	RNA	DEL	A	A	-	rs79477301		TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr11:14284600delA	ENST00000534587.1	-	0	38				SPON1_ENST00000310358.7_RNA																							GGACCTGTTTaaaaaaaaaaa	0.463																																						ENST00000310358.7																			0				NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21								spondin 1, extracellular matrix protein																																						10418				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding	g.chr11:14284600delA																													11.37:g.14284600delA						RP11-21L19.1_ENST00000534587.1_RNA				Q9HCB6	SPON1_HUMAN		Epithelial(150;0.00898)	0	2795	+									RNA	DEL	ENST00000534587.1	37																																																																																						0.463	RP11-21L19.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000386031.1			3	6						3	6	---	---	---	---
USP15	9958	broad.mit.edu	37	12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr12:62785633_62785634insA	ENST00000280377.5	+	17	2329_2330	c.2271_2272insA	c.(2272-2274)aaafs	p.K758fs	USP15_ENST00000393654.3_Frame_Shift_Ins_p.K733fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.K729fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	758	USP.				BMP signaling pathway (GO:0030509)|monoubiquitinated protein deubiquitination (GO:0035520)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|protein deubiquitination (GO:0016579)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|identical protein binding (GO:0042802)|SMAD binding (GO:0046332)|transforming growth factor beta receptor binding (GO:0005160)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277																																					Melanoma(181;615 2041 39364 49691 50001)	ENST00000280377.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37						c.(2269-2274)ttaaaafs		ubiquitin specific peptidase 15																																				SO:0001589	frameshift_variant	9958				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr12:62785633_62785634insA	AB011101	CCDS8963.1, CCDS58250.1, CCDS58251.1	12q14	2006-07-18	2005-08-08					"""Ubiquitin-specific peptidases"""	12613	protein-coding gene	gene with protein product		604731	"""ubiquitin specific protease 15"""			12838346	Standard	NM_001252078		Approved	KIAA0529, UNPH4	uc001src.2	Q9Y4E8	OTTHUMG00000170186	ENST00000280377.5:c.2278dupA	12.37:g.62785640_62785640dupA	ENSP00000280377:p.Lys758fs					USP15_ENST00000393654.3_Frame_Shift_Ins_p.LK732fs|USP15_ENST00000353364.3_Frame_Shift_Ins_p.LK728fs	p.LK757fs	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)	17	2329_2330	+			757					Q08AL5|Q9H8G9|Q9HCA6|Q9UNP0|Q9Y5B5	Frame_Shift_Ins	INS	ENST00000280377.5	37	c.2271_2272insA	CCDS58251.1																																																																																				0.277	USP15-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000407831.2	NM_006313		23	28						23	28	---	---	---	---
CXADRP3	440224	broad.mit.edu	37	18	14479021	14479023	+	lincRNA	DEL	ATC	ATC	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr18:14479021_14479023delATC	ENST00000581457.1	-	0	885_887					NR_024076.1				coxsackie virus and adenovirus receptor pseudogene 3																		CTGGATAGTAATCATCATAAATT	0.374																																						ENST00000581457.1																			0																																																			0							g.chr18:14479021_14479023delATC			18p11.21	2013-09-19			ENSG00000265766	ENSG00000265766			33974	pseudogene	pseudogene							Standard	NR_024076		Approved		uc010xai.2		OTTHUMG00000178700		18.37:g.14479024_14479026delATC								NR_024076.1						0	885_887	-									RNA	DEL	ENST00000581457.1	37																																																																																						0.374	CXADRP3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000443008.1	NR_024076		5	8						5	8	---	---	---	---
ONECUT2	9480	broad.mit.edu	37	18	55103477	55103479	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr18:55103477_55103479delCAC	ENST00000491143.2	+	1	561_563	c.529_531delCAC	c.(529-531)cacdel	p.H184del	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	184	Poly-His.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		ccaccatccgcaccaccaccacc	0.655																																						ENST00000491143.2																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15						c.(529-531)del		one cut homeobox 2				142,294,3708		10,1,121,12,269,1659						-3.2	0.9			40	19,703,7402		1,0,17,11,681,3352	no	codingComplex	ONECUT2	NM_004852.2		11,1,138,23,950,5011	A1A1,A1A2,A1R,A2A2,A2R,RR		8.8872,10.5212,9.4392				161,997,11110				SO:0001651	inframe_deletion	9480				organ morphogenesis	nucleus	sequence-specific DNA binding	g.chr18:55103477_55103479delCAC	Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.529_531delCAC	18.37:g.55103486_55103488delCAC	ENSP00000419185:p.His184del						p.H184del	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)	1	561_563	+		Colorectal(73;0.234)	184			Poly-His.			In_Frame_Del	DEL	ENST00000491143.2	37	c.529_531delCAC	CCDS42440.1																																																																																				0.655	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357264.3			4	9						4	9	---	---	---	---
SPPL2B	56928	broad.mit.edu	37	19	2338915	2338915	+	RNA	DEL	T	T	-			TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:2338915delT	ENST00000452401.2	+	0	539							Q8TCT7	SPP2B_HUMAN	signal peptide peptidase like 2B						membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|regulation of immune response (GO:0050776)	endosome membrane (GO:0010008)|Golgi-associated vesicle membrane (GO:0030660)|integral component of cytoplasmic side of endoplasmic reticulum membrane (GO:0071458)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aspartic endopeptidase activity, intramembrane cleaving (GO:0042500)|protein homodimerization activity (GO:0042803)						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCGGGGGGGTTTGTGCCTCA	0.682																																						ENST00000452401.2																			0													signal peptide peptidase like 2B																																						56928					Golgi membrane|integral to membrane	aspartic-type endopeptidase activity	g.chr19:2338915delT		CCDS74252.1, CCDS74253.1	19p13.3	2012-02-21			ENSG00000005206	ENSG00000005206			30627	protein-coding gene	gene with protein product	"""intramembrane protease 4"""	608239				10819331	Standard	NM_001077238		Approved	IMP4, PSL1, KIAA1532	uc002lvs.3	Q8TCT7			19.37:g.2338915delT						AC005258.3_ENST00000590001.1_RNA				Q8TCT7	PSL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	0	539	+		Hepatocellular(1079;0.137)						D6W609|O60365|Q567S3|Q8IUH9|Q9BUY6|Q9H3M4|Q9NPN2|Q9P1Z6	RNA	DEL	ENST00000452401.2	37																																																																																						0.682	SPPL2B-202	KNOWN	basic	processed_transcript	processed_transcript		NM_020172		7	1						7	1	---	---	---	---
LOC284395	284395	broad.mit.edu	37	19	29919002	29919002	+	RNA	DEL	C	C	-	rs34808890	byFrequency	TCGA-HC-7752-01A-11D-2114-08	TCGA-HC-7752-11A-01D-2114-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	109ba14b-307b-4a23-b09d-643fa235d0ff	e6773cf6-a13a-4c92-9f1e-af315aa2657d	g.chr19:29919002delC	ENST00000582581.1	-	0	409					NR_040029.1																						CTCACTCCTTCCCCCCAACCG	0.632													CCCCC|CCCCCC|CCCCC|insertion	3455	0.689896	0.6997	0.6772	5008	,	,		14021	0.8214		0.5477	False		,,,				2504	0.6963					ENST00000582581.1																			0																																																			0							g.chr19:29919002delC																													19.37:g.29919002delC								NR_040029.1						0	409	-									RNA	DEL	ENST00000582581.1	37																																																																																						0.632	CTC-525D6.1-001	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000444111.1			6	4						6	4	---	---	---	---
