#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
SI	6476	broad.mit.edu	37	3	164792423	164792423	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:164792423T>C	ENST00000264382.3	-	3	213	c.151A>G	c.(151-153)Act>Gct	p.T51A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	51	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	GTCACACGAGTAGTAGCTGGA	0.333										HNSCC(35;0.089)																												ENST00000264382.3																			0				NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218						c.(151-153)Act>Gct		sucrase-isomaltase (alpha-glucosidase)	Acarbose(DB00284)						84.0	87.0	86.0					3																	164792423		2203	4299	6502	SO:0001583	missense	6476				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	g.chr3:164792423T>C	X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.151A>G	3.37:g.164792423T>C	ENSP00000264382:p.Thr51Ala	HNSCC(35;0.089)					p.T51A	NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN			3	213	-		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)	51			Ser/Thr-rich.		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	c.151A>G	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	T	1.702	-0.501190	0.04261	.	.	ENSG00000090402	ENST00000264382	D	0.88741	-2.42	2.7	1.46	0.22682	.	3.960300	0.00357	N	0.000036	D	0.84410	0.5466	L	0.53249	1.67	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.62959	-0.6743	10	0.08599	T	0.76	.	4.8508	0.13537	0.2739:0.0:0.0:0.7261	.	51	P14410	SUIS_HUMAN	A	51	ENSP00000264382:T51A	ENSP00000264382:T51A	T	-	1	0	SI	166275117	0.062000	0.20869	0.001000	0.08648	0.002000	0.02628	2.090000	0.41682	0.410000	0.25675	0.477000	0.44152	ACT		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041		23	62	0	0	0	1	0	23	62				
ADAM2	2515	broad.mit.edu	37	8	39678649	39678649	+	Missense_Mutation	SNP	G	G	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:39678649G>T	ENST00000265708.4	-	6	488	c.385C>A	c.(385-387)Ccc>Acc	p.P129T	ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	129					adult behavior (GO:0030534)|binding of sperm to zona pellucida (GO:0007339)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|visual learning (GO:0008542)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACTCCAGGGGTTCTATTCCA	0.308																																						ENST00000265708.4																			0				haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53						c.(385-387)Ccc>Acc		ADAM metallopeptidase domain 2							53.0	53.0	53.0					8																	39678649		2203	4297	6500	SO:0001583	missense	2515				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	g.chr8:39678649G>T	U52370	CCDS34884.1, CCDS64882.1, CCDS64883.1	8p11.2	2009-03-25	2008-07-31		ENSG00000104755	ENSG00000104755		"""ADAM metallopeptidase domain containing"""	198	protein-coding gene	gene with protein product	"""cancer/testis antigen 15"""	601533	"""fertilin beta"""	FTNB		8702389, 9070941	Standard	NM_001278113		Approved	PH-30b, PH30, CT15	uc003xnj.4	Q99965	OTTHUMG00000164041	ENST00000265708.4:c.385C>A	8.37:g.39678649G>T	ENSP00000265708:p.Pro129Thr					ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T	p.P129T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)	6	488	-		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	129					P78326|Q9UQQ8	Missense_Mutation	SNP	ENST00000265708.4	37	c.385C>A	CCDS34884.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018162	0.75275	.	.	ENSG00000104755	ENST00000347580;ENST00000379853;ENST00000265708;ENST00000521880	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.47	5.47	0.80525	Peptidase M12B, propeptide (1);	.	.	.	.	T	0.61451	0.2348	H	0.96015	3.755	0.44685	D	0.997678	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.999	T	0.74682	-0.3583	8	.	.	.	.	16.8353	0.85955	0.0:0.0:1.0:0.0	.	129;129;129;129	B4DWY7;Q6P2G0;Q99965-2;Q99965	.;.;.;ADAM2_HUMAN	T	129	ENSP00000343854:P129T;ENSP00000369182:P129T;ENSP00000265708:P129T;ENSP00000429352:P129T	.	P	-	1	0	ADAM2	39797806	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	4.728000	0.62000	2.568000	0.86640	0.655000	0.94253	CCC		0.308	ADAM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376926.1	NM_001464		24	61	1	0	1.64293e-13	1	1.76199e-13	24	61				
KGFLP2	654466	broad.mit.edu	37	9	41963905	41963905	+	lincRNA	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:41963905C>T	ENST00000454645.1	-	0	690					NR_003670.1																						CTTTGATTGCCACAATCCCAA	0.388																																						ENST00000454645.1																			0																																																			0							g.chr9:41963905C>T																													9.37:g.41963905C>T								NR_003670.1						0	690	-									RNA	SNP	ENST00000454645.1	37																																																																																						0.388	RP11-204M4.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000143738.1			14	125	0	0	0	1	0	14	125				
WNK1	65125	broad.mit.edu	37	12	862984	862984	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:862984A>G	ENST00000315939.6	+	1	896	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000537687.1_Missense_Mutation_p.I85V|WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	85					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCGGAGCGTCATCTGTGACTC	0.672																																					Colon(19;451 567 6672 12618 28860)	ENST00000537687.1																			0				breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104						c.(253-255)Atc>Gtc		WNK lysine deficient protein kinase 1							38.0	43.0	41.0					12																	862984		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:862984A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.253A>G	12.37:g.862984A>G	ENSP00000313059:p.Ile85Val					WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000315939.6_Missense_Mutation_p.I85V|WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V	p.I85V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		1	896	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		85					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.253A>G	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	15.05	2.718218	0.48622	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000447667;ENST00000530271	T;T;T;T;T	0.72282	-0.47;-0.48;-0.43;-0.64;-0.48	4.42	4.42	0.53409	.	0.000000	0.52532	D	0.000064	T	0.77798	0.4184	L	0.61218	1.895	0.80722	D	1	D;D;D	0.67145	0.996;0.994;0.996	D;D;D	0.77557	0.99;0.978;0.99	T	0.74965	-0.3484	10	0.05721	T	0.95	-8.5153	13.8185	0.63306	1.0:0.0:0.0:0.0	.	85;85;85	F5GWT4;Q9H4A3;F6UYG0	.;WNK1_HUMAN;.	V	85	ENSP00000441972:I85V;ENSP00000313059:I85V;ENSP00000444465:I85V;ENSP00000392542:I85V;ENSP00000433548:I85V	ENSP00000313059:I85V	I	+	1	0	WNK1	733245	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.471000	0.73562	1.853000	0.53794	0.459000	0.35465	ATC		0.672	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979		15	31	0	0	0	1	0	15	31				
IGSF1	3547	broad.mit.edu	37	X	130409952	130409952	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:130409952A>G	ENST00000361420.3	-	15	2958	c.2879T>C	c.(2878-2880)cTt>cCt	p.L960P	IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000370904.1_Missense_Mutation_p.L951P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	960					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGATCATAAGGGGCATACT	0.507																																						ENST00000370904.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						c.(2851-2853)cTt>cCt		immunoglobulin superfamily, member 1							83.0	65.0	71.0					X																	130409952		2203	4300	6503	SO:0001583	missense	3547				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding	g.chrX:130409952A>G	AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2879T>C	X.37:g.130409952A>G	ENSP00000355010:p.Leu960Pro					IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000361420.3_Missense_Mutation_p.L960P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P	p.L951P			Q8N6C5	IGSF1_HUMAN			21	3762	-			960			Ig-like C2-type 9.		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	c.2852T>C	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	A	12.21	1.871016	0.33069	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.01043	5.41;5.41;5.41;5.41	5.2	5.2	0.72013	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	1.301460	0.05760	N	0.604733	T	0.12008	0.0292	H	0.96048	3.76	0.50313	D	0.99986	D;P;P	0.54207	0.965;0.923;0.948	P;P;P	0.61003	0.762;0.882;0.549	T	0.00080	-1.2109	10	0.87932	D	0	.	10.6624	0.45710	1.0:0.0:0.0:0.0	.	951;404;960	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	P	951;960;951;965	ENSP00000359947:L951P;ENSP00000355010:L960P;ENSP00000359941:L951P;ENSP00000359940:L965P	ENSP00000355010:L960P	L	-	2	0	IGSF1	130237633	0.859000	0.29813	0.701000	0.30321	0.491000	0.33493	1.967000	0.40491	1.858000	0.53909	0.486000	0.48141	CTT		0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			37	68	0	0	0	1	0	37	68				
PDGFRA	5156	broad.mit.edu	37	4	55138644	55138644	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55138644C>T	ENST00000257290.5	+	9	1652	c.1321C>T	c.(1321-1323)Ccg>Tcg	p.P441S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	441	Ig-like C2-type 5.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TGAAGGCACGCCGCTTCCTGA	0.468			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1321-1323)Ccg>Tcg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						156.0	143.0	148.0					4																	55138644		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55138644C>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1321C>T	4.37:g.55138644C>T	ENSP00000257290:p.Pro441Ser	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.P441S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		9	1652	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		441			Ig-like C2-type 5.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1321C>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.717462	0.68844	.	.	ENSG00000134853	ENST00000257290	D	0.92647	-3.08	6.17	6.17	0.99709	Immunoglobulin-like fold (1);	0.000000	0.31936	U	0.006824	D	0.96516	0.8863	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.96033	0.9018	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	441;441	P16234-3;P16234	.;PGFRA_HUMAN	S	441	ENSP00000257290:P441S	ENSP00000257290:P441S	P	+	1	0	PDGFRA	54833401	1.000000	0.71417	0.951000	0.38953	0.005000	0.04900	6.423000	0.73361	2.941000	0.99782	0.655000	0.94253	CCG		0.468	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		10	1164	0	0	0	1	0	10	1164				
KLK12	43849	broad.mit.edu	37	19	51535256	51535256	+	Silent	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:51535256C>A	ENST00000525263.1	-	3	452	c.333G>T	c.(331-333)ctG>ctT	p.L111L	KLK12_ENST00000250351.4_Silent_p.L111L|KLK12_ENST00000319590.4_Silent_p.L111L|KLK12_ENST00000250352.11_Intron|KLK12_ENST00000529888.1_Intron|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	111	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCAGCCGCAGCAGCCGGAGGT	0.682																																						ENST00000525263.1																			0				endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12						c.(331-333)ctG>ctT		kallikrein-related peptidase 12							31.0	29.0	30.0					19																	51535256		2194	4283	6477	SO:0001819	synonymous_variant	43849				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity	g.chr19:51535256C>A		CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.333G>T	19.37:g.51535256C>A						KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250352.11_Intron|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000319590.4_Silent_p.L111L|KLK12_ENST00000250351.4_Silent_p.L111L	p.L111L			Q9UKR0	KLK12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)	3	452	-		all_neural(266;0.026)	111			Peptidase S1.		Q9UKR1|Q9UKR2	Silent	SNP	ENST00000525263.1	37	c.333G>T	CCDS12821.1																																																																																				0.682	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000386288.1	NM_019598		19	21	1	0	7.41877e-09	1	7.73224e-09	19	21				
PDGFRA	5156	broad.mit.edu	37	4	55136847	55136847	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55136847G>A	ENST00000257290.5	+	8	1500	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GAAGACAGTGGCCATTATACT	0.348			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(1168-1170)gGc>gAc		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						150.0	154.0	153.0					4																	55136847		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55136847G>A	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1169G>A	4.37:g.55136847G>A	ENSP00000257290:p.Gly390Asp	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Intron	p.G390D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		8	1500	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		390			Ig-like C2-type 4.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.1169G>A	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	g	24.7	4.565617	0.86439	.	.	ENSG00000134853	ENST00000257290	T	0.80738	-1.41	5.84	5.84	0.93424	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin-like fold (1);	0.000000	0.32533	U	0.005976	D	0.91747	0.7390	M	0.90082	3.085	0.80722	D	1	P;D	0.58970	0.939;0.984	P;D	0.66084	0.904;0.941	D	0.92572	0.6067	10	0.87932	D	0	.	20.1407	0.98058	0.0:0.0:1.0:0.0	.	390;390	P16234-3;P16234	.;PGFRA_HUMAN	D	390	ENSP00000257290:G390D	ENSP00000257290:G390D	G	+	2	0	PDGFRA	54831604	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	8.548000	0.90669	2.763000	0.94921	0.651000	0.88453	GGC		0.348	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		138	1007	0	0	0	1	0	138	1007				
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C	rs202014361	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:47207813T>C	ENST00000452145.2	-	4	506	c.395A>G	c.(394-396)cAt>cGt	p.H132R	AGAP10_ENST00000413193.2_Splice_Site_p.H228R|AGAP10_ENST00000355232.3_Splice_Site_p.H157R|RP11-144G6.12_ENST00000605970.1_RNA			Q5T2P9	AGA10_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 10	132					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294																																						ENST00000355232.3																			20	Substitution - Missense(20)	p.H228R(20)	endometrium(10)|prostate(4)|kidney(4)|urinary_tract(2)	endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						c.e5+1		ArfGAP with GTPase domain, ankyrin repeat and PH domain 10																																				SO:0001630	splice_region_variant	728127							g.chr10:47207813T>C	BC075841		10q11.22	2013-01-11	2008-09-22	2008-09-22	ENSG00000204172	ENSG00000204172		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23462	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 7"""	CTGLF7			Standard	XM_006709937		Approved	bA144G6.2		Q5T2P9	OTTHUMG00000018115	ENST00000452145.2:c.396+1A>G	10.37:g.47207813T>C						AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice	p.H157_splice							5	3482	-									Splice_Site	SNP	ENST00000452145.2	37	c.471_splice		.	.	.	.	.	.	.	.	.	.	t	0.012	-1.675265	0.00751	.	.	ENSG00000204172	ENST00000452145;ENST00000413193;ENST00000355232	D;T;D	0.87966	-2.32;2.68;-2.32	1.4	1.4	0.22301	.	0.264128	0.34555	N	0.003879	T	0.72486	0.3466	.	.	.	0.20764	N	0.999856	B	0.22003	0.063	B	0.19666	0.026	T	0.55471	-0.8136	9	0.16896	T	0.51	.	6.9024	0.24291	0.0:0.0:0.0:1.0	.	132	Q5T2P9	AGA10_HUMAN	R	132;228;157	ENSP00000392206:H132R;ENSP00000407436:H228R;ENSP00000347372:H157R	ENSP00000347372:H157R	H	-	2	0	AGAP10	46627819	1.000000	0.71417	1.000000	0.80357	0.105000	0.19272	3.704000	0.54815	0.898000	0.36418	0.163000	0.16589	CAT		0.294	AGAP10-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000047845.2	XM_001714786.2	Missense_Mutation	4	68	0	0	0	1	0	4	68				
LYSMD4	145748	broad.mit.edu	37	15	100269717	100269717	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:100269717C>T	ENST00000409796.1	-	3	564	c.502G>A	c.(502-504)Ggc>Agc	p.G168S	LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S|LYSMD4_ENST00000545021.1_Missense_Mutation_p.G42S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000604213.1_Intron	NM_001284417.1|NM_001284418.1|NM_001284420.1	NP_001271346.1|NP_001271347.1|NP_001271349.1	Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	168						integral component of membrane (GO:0016021)				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TTAAAGAAGCCCATCAGTTGG	0.567																																						ENST00000545021.1																			0				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10						c.(124-126)Ggc>Agc		LysM, putative peptidoglycan-binding, domain containing 4							73.0	72.0	72.0					15																	100269717		2203	4300	6503	SO:0001583	missense	145748				cell wall macromolecule catabolic process	integral to membrane		g.chr15:100269717C>T	BC041097	CCDS10381.1, CCDS66876.1, CCDS66877.1, CCDS73788.1	15q26.3	2005-10-24			ENSG00000183060	ENSG00000183060			26571	protein-coding gene	gene with protein product						12477932	Standard	NM_001284418		Approved	FLJ33008	uc002bvl.3	Q5XG99	OTTHUMG00000149853	ENST00000409796.1:c.502G>A	15.37:g.100269717C>T	ENSP00000386283:p.Gly168Ser					LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000409796.1_Missense_Mutation_p.G168S	p.G42S			Q5XG99	LYSM4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)		4	938	-	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		168					A6NII6|A8K2N1|Q96LY7	Missense_Mutation	SNP	ENST00000409796.1	37	c.124G>A		.	.	.	.	.	.	.	.	.	.	C	8.002	0.755572	0.15846	.	.	ENSG00000183060	ENST00000409796;ENST00000344791;ENST00000332728;ENST00000545021	T;T;T;T	0.16743	2.32;2.32;2.32;2.32	4.83	2.71	0.32032	.	0.209867	0.48767	D	0.000176	T	0.07369	0.0186	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.009;0.0	B;B	0.11329	0.006;0.0	T	0.38112	-0.9676	10	0.19147	T	0.46	-25.2803	7.5067	0.27549	0.0:0.702:0.1335:0.1645	.	169;168	Q5XG99-2;Q5XG99	.;LYSM4_HUMAN	S	168;169;168;42	ENSP00000386283:G168S;ENSP00000342840:G169S;ENSP00000333008:G168S;ENSP00000445357:G42S	ENSP00000333008:G168S	G	-	1	0	LYSMD4	98087240	0.515000	0.26210	0.405000	0.26409	0.331000	0.28603	1.373000	0.34272	0.427000	0.26145	0.655000	0.94253	GGC		0.567	LYSMD4-005	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335634.1	NM_152449		41	113	0	0	0	1	0	41	113				
ZSCAN10	84891	broad.mit.edu	37	16	3140076	3140076	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:3140076C>T	ENST00000252463.2	-	5	1281	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	ZSCAN10_ENST00000538082.2_Silent_p.A316A|ZSCAN10_ENST00000575108.1_Silent_p.A59A|RP11-473M20.9_ENST00000571404.1_lincRNA	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	398					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTGGGCGTGCGCCAGCAGGT	0.697																																						ENST00000252463.2																			0				breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						c.(1192-1194)gcG>gcA		zinc finger and SCAN domain containing 10							10.0	14.0	13.0					16																	3140076		2129	4144	6273	SO:0001819	synonymous_variant	84891				negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:3140076C>T	AA206569	CCDS10493.1, CCDS61813.1, CCDS61814.1	16p13.3	2013-01-08	2007-02-20	2007-02-20		ENSG00000130182		"""-"", ""Zinc fingers, C2H2-type"""	12997	protein-coding gene	gene with protein product			"""zinc finger protein 206"""	ZNF206		9653642	Standard	NM_032805		Approved		uc002ctv.1	Q96SZ4		ENST00000252463.2:c.1194G>A	16.37:g.3140076C>T						ZSCAN10_ENST00000575108.1_Silent_p.A59A|ZSCAN10_ENST00000538082.2_Silent_p.A316A	p.A398A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN			5	1281	-			398					B3KQD3|H0YFS6|Q1WWM2	Silent	SNP	ENST00000252463.2	37	c.1194G>A	CCDS10493.1																																																																																				0.697	ZSCAN10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437124.2	NM_032805		12	14	0	0	0	1	0	12	14				
MACF1	23499	broad.mit.edu	37	1	39950322	39950322	+	Missense_Mutation	SNP	A	A	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:39950322A>C	ENST00000372915.3	+	96	21917	c.21830A>C	c.(21829-21831)cAt>cCt	p.H7277P	MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P|MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000564288.1_Missense_Mutation_p.H7444P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7277	C-terminal tail. {ECO:0000250}.|Ser-rich.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACTTTTCATTCTAGTCGG	0.438																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(22330-22332)cAt>cCt		microtubule-actin crosslinking factor 1							119.0	126.0	124.0					1																	39950322		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39950322A>C	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21830A>C	1.37:g.39950322A>C	ENSP00000362006:p.His7277Pro					MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P|MACF1_ENST00000372915.3_Missense_Mutation_p.H7277P|MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P	p.H7444P			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		100	23108	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7277					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.22331A>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	16.87|16.87	3.242052|3.242052	0.58995|0.58995	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000539218|ENST00000360115;ENST00000442046	T;T;T;T;T;T|.	0.62364|.	0.07;0.13;0.07;0.03;0.23;1.22|.	6.03|6.03	6.03|6.03	0.97812|0.97812	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	T|T	0.70552|0.70552	0.3237|0.3237	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D;B;D;D;D;P|.	0.69078|.	0.962;0.344;0.99;0.995;0.997;0.932|.	P;B;P;D;D;B|.	0.74348|.	0.69;0.3;0.898;0.983;0.948;0.424|.	T|T	0.68796|0.68796	-0.5314|-0.5314	9|5	.|.	.|.	.|.	.|.	15.1292|15.1292	0.72507|0.72507	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	7277;5319;4322;147;5827;256|.	Q9UPN3;F8W8Q1;B1ALC4;Q9H8U2;Q96PK2;B1ANQ7|.	MACF1_HUMAN;.;.;.;MACF4_HUMAN;.|.	P|L	5319;7277;5319;5319;5189;5827;233|432;257	ENSP00000439537:H5319P;ENSP00000362006:H7277P;ENSP00000354573:H5319P;ENSP00000313438:H5319P;ENSP00000444364:H5189P;ENSP00000289893:H5827P|.	.|.	H|I	+|+	2|1	0|0	MACF1|MACF1	39722909|39722909	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.465000|6.465000	0.73538|0.73538	2.308000|2.308000	0.77769|0.77769	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	168	0	0	0	1	0	10	168				
IL12RB2	3595	broad.mit.edu	37	1	67792514	67792514	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:67792514A>G	ENST00000262345.1	+	4	1101	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	154	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma production (GO:0032609)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interferon-gamma production (GO:0032729)|response to lipopolysaccharide (GO:0032496)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACCCACTTATACACTGAGTAT	0.408																																						ENST00000262345.1																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						c.(460-462)tAc>tGc		interleukin 12 receptor, beta 2							81.0	76.0	78.0					1																	67792514		2203	4300	6503	SO:0001583	missense	3595				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	g.chr1:67792514A>G	U64198	CCDS638.1, CCDS58006.1, CCDS58007.1, CCDS72805.1	1p31.3-p31.2	2014-07-15			ENSG00000081985	ENSG00000081985		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	5972	protein-coding gene	gene with protein product		601642				9284929, 8943050	Standard	NM_001559		Approved		uc001ddu.3	Q99665	OTTHUMG00000009094	ENST00000262345.1:c.461A>G	1.37:g.67792514A>G	ENSP00000262345:p.Tyr154Cys					IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C	p.Y154C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN			4	1101	+			154			Fibronectin type-III 1.		B1AN98|B7ZKL9|F5H7L6|Q2M3V3	Missense_Mutation	SNP	ENST00000262345.1	37	c.461A>G	CCDS638.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.80|12.80	2.046356|2.046356	0.36085|0.36085	.|.	.|.	ENSG00000081985|ENSG00000081985	ENST00000441640|ENST00000262345;ENST00000371000;ENST00000541374;ENST00000544434	.|T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93	5.5|5.5	-1.33|-1.33	0.09172|0.09172	.|Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	.|1.291180	.|0.04455	.|N	.|0.373358	T|T	0.19685|0.19685	0.0473|0.0473	M|M	0.63428|0.63428	1.95|1.95	0.09310|0.09310	N|N	1|1	.|D;D;D;D	.|0.76494	.|0.991;0.999;0.997;0.993	.|P;P;P;P	.|0.61722	.|0.598;0.893;0.846;0.815	T|T	0.06023|0.06023	-1.0850|-1.0850	5|10	.|0.37606	.|T	.|0.19	-0.027|-0.027	1.1872|1.1872	0.01857|0.01857	0.4071:0.2907:0.1618:0.1403|0.4071:0.2907:0.1618:0.1403	.|.	.|154;154;154;154	.|B4DGA4;F5H7L6;Q99665-2;Q99665	.|.;.;.;I12R2_HUMAN	M|C	21|154	.|ENSP00000262345:Y154C;ENSP00000360039:Y154C;ENSP00000445276:Y154C;ENSP00000442443:Y154C	.|ENSP00000262345:Y154C	I|Y	+|+	3|2	3|0	IL12RB2|IL12RB2	67565102|67565102	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.706000|0.706000	0.40770|0.40770	0.013000|0.013000	0.13310|0.13310	-0.524000|-0.524000	0.06400|0.06400	-0.371000|-0.371000	0.07208|0.07208	ATA|TAC		0.408	IL12RB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025202.2	NM_001559		8	45	0	0	0	1	0	8	45				
ITGB6	3694	broad.mit.edu	37	2	161030526	161030526	+	Missense_Mutation	SNP	C	C	T	rs140624114		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:161030526C>T	ENST00000283249.2	-	5	955	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	240	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCCACCTTCGGGTGTGTCA	0.348																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(718-720)Gaa>Aaa		integrin, beta 6		C	LYS/GLU	0,4406		0,0,2203	103.0	102.0	102.0		718	5.3	1.0	2	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ITGB6	NM_000888.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	240/789	161030526	1,13005	2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161030526C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.718G>A	2.37:g.161030526C>T	ENSP00000283249:p.Glu240Lys					ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000485635.1_5'UTR	p.E240K			P18564	ITB6_HUMAN			5	955	-			240			VWFA.		B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.718G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384591	0.95967	0.0	1.16E-4	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.95622	-3.76;-3.76;-3.76;-3.76	5.3	5.3	0.74995	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.98349	0.9452	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99201	1.0873	10	0.87932	D	0	.	19.3005	0.94143	0.0:1.0:0.0:0.0	.	198;240	E9PEE8;P18564	.;ITB6_HUMAN	K	240;198;240;240	ENSP00000283249:E240K;ENSP00000408024:E198K;ENSP00000386828:E240K;ENSP00000386367:E240K	ENSP00000283249:E240K	E	-	1	0	ITGB6	160738772	1.000000	0.71417	0.955000	0.39395	0.954000	0.61252	7.445000	0.80570	2.646000	0.89796	0.491000	0.48974	GAA		0.348	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		26	43	0	0	0	1	0	26	43				
AHNAK	79026	broad.mit.edu	37	11	62296869	62296869	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:62296869A>G	ENST00000378024.4	-	5	5294	c.5020T>C	c.(5020-5022)Tct>Cct	p.S1674P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1674					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGCACAGACACATCCATA	0.493																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5020-5022)Tct>Cct		AHNAK nucleoprotein							316.0	320.0	319.0					11																	62296869		2202	4297	6499	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296869A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5020T>C	11.37:g.62296869A>G	ENSP00000367263:p.Ser1674Pro					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.S1674P	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	5294	-		Melanoma(852;0.155)	1674					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5020T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	A	6.350	0.432661	0.12045	.	.	ENSG00000124942	ENST00000378024	T	0.04603	3.59	3.97	-0.809	0.10864	.	0.808003	0.10095	U	0.716714	T	0.13243	0.0321	M	0.78916	2.43	0.30586	N	0.761974	P	0.46020	0.871	P	0.58266	0.836	T	0.21759	-1.0236	10	0.23302	T	0.38	.	5.02	0.14356	0.4555:0.2532:0.0:0.2912	.	1674	Q09666	AHNK_HUMAN	P	1674	ENSP00000367263:S1674P	ENSP00000367263:S1674P	S	-	1	0	AHNAK	62053445	0.000000	0.05858	0.155000	0.22561	0.007000	0.05969	0.090000	0.15025	-0.400000	0.07656	-1.210000	0.01631	TCT		0.493	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		96	319	0	0	0	1	0	96	319				
OCA2	4948	broad.mit.edu	37	15	28263615	28263615	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:28263615C>T	ENST00000354638.3	-	7	890	c.735G>A	c.(733-735)ggG>ggA	p.G245G	OCA2_ENST00000353809.5_Silent_p.G245G|OCA2_ENST00000382996.2_Silent_p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	245					cell proliferation (GO:0008283)|eye pigment biosynthetic process (GO:0006726)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|spermatid development (GO:0007286)|tyrosine transport (GO:0015828)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome membrane (GO:0033162)	L-tyrosine transmembrane transporter activity (GO:0005302)|transporter activity (GO:0005215)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTCTTCCCTCCCAGGACGAC	0.612									Oculocutaneous Albinism																													ENST00000354638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(733-735)ggG>ggA		oculocutaneous albinism II							38.0	34.0	36.0					15																	28263615		2203	4300	6503	SO:0001819	synonymous_variant	4948	Oculocutaneous Albinism	Familial Cancer Database		eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	g.chr15:28263615C>T		CCDS10020.1, CCDS73701.1	15q12	2013-01-08	2008-01-30		ENSG00000104044	ENSG00000104044			8101	protein-coding gene	gene with protein product	"""melanocyte-specific transporter protein"""	611409	"""oculocutaneous albinism II (pink-eye dilution (murine) homolog)"", ""eye color 3 (brown)"", ""eye color 2 (central brown)"", ""oculocutaneous albinism II (pink-eye dilution homolog, mouse)"""	D15S12, P, EYCL3, EYCL2			Standard	NM_000275		Approved	BEY2, EYCL, BEY, BEY1	uc001zbh.4	Q04671	OTTHUMG00000128871	ENST00000354638.3:c.735G>A	15.37:g.28263615C>T						OCA2_ENST00000353809.5_Silent_p.G245G|OCA2_ENST00000382996.2_Silent_p.G245G	p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)	7	890	-		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)	245					Q15211|Q15212|Q96EN1|Q9UMI5	Silent	SNP	ENST00000354638.3	37	c.735G>A	CCDS10020.1																																																																																				0.612	OCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250823.1	NM_000275		4	27	0	0	0	1	0	4	27				
ABCA12	26154	broad.mit.edu	37	2	215823032	215823032	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:215823032C>A	ENST00000272895.7	-	41	6305	c.6086G>T	c.(6085-6087)tGc>tTc	p.C2029F	ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F|AC072062.1_ENST00000607412.1_RNA|AC072062.1_ENST00000420134.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2029					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACCCAGTAGCATGTCACGCC	0.418																																					Ovarian(66;664 1488 5121 34295)	ENST00000272895.7																			0				NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139						c.(6085-6087)tGc>tTc		ATP-binding cassette, sub-family A (ABC1), member 12							227.0	199.0	209.0					2																	215823032		2203	4300	6503	SO:0001583	missense	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215823032C>A	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.6086G>T	2.37:g.215823032C>A	ENSP00000272895:p.Cys2029Phe					ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F|AC072062.1_ENST00000607412.1_RNA	p.C2029F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	41	6305	-		Renal(323;0.127)	2029					Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	c.6086G>T	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	C	9.342	1.063313	0.20067	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.82711	-1.64;-1.64	5.52	5.52	0.82312	.	0.078533	0.56097	D	0.000032	T	0.74489	0.3723	N	0.25144	0.715	0.80722	D	1	B;B	0.20261	0.043;0.021	B;B	0.20184	0.028;0.01	T	0.68561	-0.5376	10	0.35671	T	0.21	.	16.5023	0.84260	0.0:0.8015:0.1985:0.0	.	2029;1711	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	F	2029;1711	ENSP00000272895:C2029F;ENSP00000374312:C1711F	ENSP00000272895:C2029F	C	-	2	0	ABCA12	215531277	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.317000	0.51968	2.765000	0.95021	0.650000	0.86243	TGC		0.418	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		5	106	1	0	8.12818e-05	1	8.23953e-05	5	106				
RET	5979	broad.mit.edu	37	10	43604537	43604537	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:43604537G>A	ENST00000355710.3	+	6	1354	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	RET_ENST00000340058.5_Silent_p.V374V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	374					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	AGCTGGCGGTGCTGGTCAATG	0.622		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma																												Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	ENST00000355710.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(1120-1122)gtG>gtA		ret proto-oncogene	Sunitinib(DB01268)						79.0	72.0	74.0					10																	43604537		2203	4300	6503	SO:0001819	synonymous_variant	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43604537G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.1122G>A	10.37:g.43604537G>A						RET_ENST00000340058.5_Silent_p.V374V	p.V374V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN			6	1354	+		Ovarian(717;0.0423)	374					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Silent	SNP	ENST00000355710.3	37	c.1122G>A	CCDS7200.1																																																																																				0.622	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975		23	38	0	0	0	1	0	23	38				
SLC9C2	284525	broad.mit.edu	37	1	173526626	173526626	+	Silent	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:173526626C>G	ENST00000367714.3	-	10	1490	c.1068G>C	c.(1066-1068)gtG>gtC	p.V356V	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.V254V|SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	356					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										AAATAGGGCTCACTAACAAAA	0.333																																						ENST00000367714.3																			0											c.(1066-1068)gtG>gtC		solute carrier family 9, member C2 (putative)							104.0	112.0	109.0					1																	173526626		2202	4300	6502	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173526626C>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1068G>C	1.37:g.173526626C>G						SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Silent_p.V254V|RP3-436N22.3_ENST00000431459.1_RNA	p.V356V	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			10	1490	-			356					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.1068G>C	CCDS1308.1																																																																																				0.333	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		7	162	0	0	0	1	0	7	162				
LILRA4	23547	broad.mit.edu	37	19	54849448	54849448	+	Silent	SNP	G	G	A	rs138743259	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:54849448G>A	ENST00000291759.4	-	4	470	c.414C>T	c.(412-414)aaC>aaT	p.N138N	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	138	Ig-like C2-type 2.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGAGGGTCACGTTCACTCCTG	0.572													G|||	3	0.000599042	0.0023	0.0	5008	,	,		18655	0.0		0.0	False		,,,				2504	0.0					ENST00000291759.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(412-414)aaC>aaT		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4		G		2,4404		0,2,2201	57.0	58.0	58.0		414	-2.7	0.2	19	dbSNP_134	58	0,8600		0,0,4300	no	coding-synonymous	LILRA4	NM_012276.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		138/500	54849448	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54849448G>A	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.414C>T	19.37:g.54849448G>A							p.N138N	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	4	470	-	Ovarian(34;0.19)		138			Ig-like C2-type 2.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.414C>T	CCDS12890.1																																																																																				0.572	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276		18	37	0	0	0	1	0	18	37				
NPAP1	23742	broad.mit.edu	37	15	24921057	24921057	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:24921057C>T	ENST00000329468.2	+	1	517	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	15					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											GTGCCGCCGCCGGCCCCTGCC	0.662																																						ENST00000329468.2																			0											c.(43-45)Cgg>Tgg		nuclear pore associated protein 1							5.0	7.0	7.0					15																	24921057		1886	3920	5806	SO:0001583	missense	23742							g.chr15:24921057C>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.43C>T	15.37:g.24921057C>T	ENSP00000333735:p.Arg15Trp						p.R15W	NM_018958.2	NP_061831.2					1	517	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.43C>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	12.70	2.016797	0.35606	.	.	ENSG00000185823	ENST00000329468	T	0.09073	3.02	2.29	-4.57	0.03421	.	1.199260	0.06709	N	0.772857	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	1	B	0.27932	0.194	B	0.14578	0.011	T	0.37663	-0.9696	10	0.66056	D	0.02	.	4.7125	0.12879	0.1597:0.6014:0.0:0.2388	.	15	Q9NZP6	CO002_HUMAN	W	15	ENSP00000333735:R15W	ENSP00000333735:R15W	R	+	1	2	C15orf2	22472150	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.564000	0.02152	-1.481000	0.01863	-0.373000	0.07131	CGG		0.662	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		6	11	0	0	0	1	0	6	11				
HBG2	3048	broad.mit.edu	37	11	5275635	5275635	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5275635C>A	ENST00000380259.2	-	7	1442	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L	HBG2_ENST00000380252.1_Missense_Mutation_p.V58L|HBG2_ENST00000336906.4_Missense_Mutation_p.V68L			P69892	HBG2_HUMAN	hemoglobin, gamma G	68			V -> M (in TNCY; hemoglobin Toms River; the side chain of methionine decreases both the affinity of oxygen for binding to the mutant hemoglobin subunit via steric hindrance and the rate at which it does so; the mutant methionine is converted to aspartic acid post- translationally). {ECO:0000269|PubMed:21561349}.		blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGTCAGCACCTTCTTGCCA	0.537																																						ENST00000380259.2																			0				endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13						c.(202-204)Gtg>Ttg		hemoglobin, gamma G							272.0	210.0	231.0					11																	5275635		2201	4298	6499	SO:0001583	missense	3048							g.chr11:5275635C>A	BC029387	CCDS7755.1	11p15.5	2014-05-19			ENSG00000196565	ENSG00000196565			4832	protein-coding gene	gene with protein product		142250				2649166	Standard	NM_000184		Approved	HBG-T1		P69892	OTTHUMG00000066673	ENST00000380259.2:c.202G>T	11.37:g.5275635C>A	ENSP00000369609:p.Val68Leu					HBG2_ENST00000336906.4_Missense_Mutation_p.V68L|HBG2_ENST00000380252.1_Missense_Mutation_p.V58L	p.V68L						Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	7	1442	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)						A8MZE0|P02096|P62027|Q14491|Q68NH9|Q96FH6|Q96FH7	Missense_Mutation	SNP	ENST00000380259.2	37	c.202G>T	CCDS7755.1	.	.	.	.	.	.	.	.	.	.	C	14.95	2.689194	0.48097	.	.	ENSG00000196565	ENST00000380252;ENST00000380259;ENST00000336906;ENST00000380247	D;D;D	0.96334	-3.98;-3.98;-3.98	3.98	2.01	0.26516	Globin-like (2);Globin, structural domain (2);	.	.	.	.	D	0.97911	0.9313	H	0.95437	3.67	0.36208	D	0.851209	P;D	0.60575	0.923;0.988	P;P	0.58721	0.755;0.844	D	0.97994	1.0356	9	0.87932	D	0	.	7.8263	0.29318	0.1597:0.7507:0.0:0.0896	.	68;68	P69892;P69891	HBG2_HUMAN;HBG1_HUMAN	L	58;68;68;68	ENSP00000369602:V58L;ENSP00000369609:V68L;ENSP00000338082:V68L	ENSP00000338082:V68L	V	-	1	0	HBG2	5232211	0.971000	0.33674	0.411000	0.26484	0.410000	0.31052	2.866000	0.48420	0.393000	0.25203	0.650000	0.86243	GTG		0.537	HBG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142967.2	NM_000184		55	122	1	0	1.07796e-43	1	1.19058e-43	55	122				
PDGFRA	5156	broad.mit.edu	37	4	55131143	55131143	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131143A>T	ENST00000257290.5	+	5	1017	c.686A>T	c.(685-687)gAa>gTa	p.E229V	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AAGTCAGGGGAAACGATTGTG	0.428			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(685-687)gAa>gTa		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						173.0	166.0	168.0					4																	55131143		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131143A>T	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.686A>T	4.37:g.55131143A>T	ENSP00000257290:p.Glu229Val	TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	p.E229V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1017	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		229			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.686A>T	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.417984	0.83449	.	.	ENSG00000134853	ENST00000257290	T	0.70045	-0.45	5.26	5.26	0.73747	Immunoglobulin I-set (1);Tyrosine-protein kinase, vascular endothelial growth factor receptor (VEGFR), N-terminal (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32884	U	0.005529	D	0.82356	0.5019	M	0.81802	2.56	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.98	D	0.85251	0.1044	10	0.87932	D	0	.	15.175	0.72903	1.0:0.0:0.0:0.0	.	229;229	P16234-3;P16234	.;PGFRA_HUMAN	V	229	ENSP00000257290:E229V	ENSP00000257290:E229V	E	+	2	0	PDGFRA	54825900	1.000000	0.71417	0.796000	0.32109	0.757000	0.42996	7.543000	0.82106	1.999000	0.58509	0.402000	0.26972	GAA		0.428	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		1046	792	0	0	0	1	0	1046	792				
SLC45A4	57210	broad.mit.edu	37	8	142228943	142228943	+	Missense_Mutation	SNP	C	C	T	rs139911158	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:142228943C>T	ENST00000024061.3	-	4	950	c.643G>A	c.(643-645)Gct>Act	p.A215T	SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T|SLC45A4_ENST00000519067.1_Missense_Mutation_p.A215T	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCTCAGCGCTGCGCTCC	0.672																																						ENST00000519067.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(643-645)Gct>Act		solute carrier family 45, member 4		C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	59.0	64.0	62.0		643	-7.1	0.0	8	dbSNP_134	62	4,8596	3.7+/-12.6	0,4,4296	no	missense	SLC45A4	NM_001080431.1	58	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	benign	215/799	142228943	5,13001	2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228943C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.643G>A	8.37:g.142228943C>T	ENSP00000024061:p.Ala215Thr					SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T|SLC45A4_ENST00000024061.3_Missense_Mutation_p.A215T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T	p.A215T			Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	946	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		266					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.643G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	1.596	-0.527688	0.04141	2.27E-4	4.65E-4	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061;ENST00000520137	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;0.97	4.8	-7.13	0.01532	.	1.967430	0.03037	N	0.152895	T	0.54615	0.1869	N	0.08118	0	0.09310	N	1	B;B;B	0.21753	0.06;0.003;0.003	B;B;B	0.15052	0.012;0.002;0.002	T	0.51474	-0.8701	10	0.13108	T	0.6	0.0228	3.882	0.09082	0.0869:0.4013:0.3023:0.2095	.	266;215;215	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	T	215;266;208;215;73	ENSP00000429059:A215T;ENSP00000428137:A266T;ENSP00000400799:A208T;ENSP00000024061:A215T;ENSP00000429033:A73T	ENSP00000024061:A215T	A	-	1	0	SLC45A4	142298125	0.000000	0.05858	0.000000	0.03702	0.067000	0.16453	-0.554000	0.06006	-1.876000	0.01131	-1.723000	0.00705	GCT		0.672	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	XM_050325		55	61	0	0	0	1	0	55	61				
CHD9	80205	broad.mit.edu	37	16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:53288443C>T	ENST00000398510.3	+	17	4042	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000566029.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGTTTGACCGAGCCAGTTT	0.413																																						ENST00000566029.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78						c.(3955-3957)Cga>Tga		chromodomain helicase DNA binding protein 9							222.0	216.0	218.0					16																	53288443		1871	4108	5979	SO:0001587	stop_gained	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53288443C>T	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.3955C>T	16.37:g.53288443C>T	ENSP00000381522:p.Arg1319*					CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*	p.R1319*			Q3L8U1	CHD9_HUMAN			18	4164	+		all_cancers(37;0.0212)	1319			Helicase C-terminal.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Nonsense_Mutation	SNP	ENST00000398510.3	37	c.3955C>T		.	.	.	.	.	.	.	.	.	.	C	43	10.421252	0.99402	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000219084	.	.	.	5.48	4.5	0.54988	.	0.000000	0.47093	D	0.000253	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-9.8648	13.543	0.61686	0.3403:0.6597:0.0:0.0	.	.	.	.	X	1319;1319;845	.	ENSP00000219084:R845X	R	+	1	2	CHD9	51845944	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.458000	0.35223	1.268000	0.44264	0.650000	0.86243	CGA		0.413	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134		13	143	0	0	0	1	0	13	143				
RNF113A	7737	broad.mit.edu	37	X	119004589	119004589	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:119004589C>T	ENST00000371442.2	-	1	1202	c.988G>A	c.(988-990)Gac>Aac	p.D330N	NDUFA1_ENST00000371437.4_5'Flank	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	330							zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCTGGCAAGTCGGAAGCACCA	0.418																																						ENST00000371442.2																			0				NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						c.(988-990)Gac>Aac		ring finger protein 113A							135.0	140.0	138.0					X																	119004589		2203	4300	6503	SO:0001583	missense	7737						nucleic acid binding|zinc ion binding	g.chrX:119004589C>T	X98253	CCDS14589.1	Xq24	2013-10-22	2005-03-22	2005-03-22	ENSG00000125352	ENSG00000125352		"""RING-type (C3HC4) zinc fingers"""	12974	protein-coding gene	gene with protein product			"""zinc finger protein 183 (RING finger, C3HC4 type)"""	ZNF183		9224902	Standard	NM_006978		Approved	RNF113, Cwc24	uc004esb.3	O15541	OTTHUMG00000022283	ENST00000371442.2:c.988G>A	X.37:g.119004589C>T	ENSP00000360497:p.Asp330Asn						p.D330N	NM_006978.2	NP_008909.1	O15541	R113A_HUMAN			1	1202	-			330					B2RBR7	Missense_Mutation	SNP	ENST00000371442.2	37	c.988G>A	CCDS14589.1	.	.	.	.	.	.	.	.	.	.	C	4.864	0.160644	0.09287	.	.	ENSG00000125352	ENST00000371442	T	0.32272	1.46	5.24	4.39	0.52855	.	0.606372	0.15569	N	0.255571	T	0.21468	0.0517	N	0.21448	0.665	0.09310	N	0.999999	B	0.09022	0.002	B	0.04013	0.001	T	0.14755	-1.0461	10	0.36615	T	0.2	-39.1074	11.1275	0.48328	0.0:0.9074:0.0:0.0926	.	330	O15541	R113A_HUMAN	N	330	ENSP00000360497:D330N	ENSP00000360497:D330N	D	-	1	0	RNF113A	118888617	0.303000	0.24463	0.002000	0.10522	0.148000	0.21650	2.184000	0.42575	1.118000	0.41863	-0.190000	0.12839	GAC		0.418	RNF113A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058071.1	NM_006978		94	150	0	0	0	1	0	94	150				
DUSP1	1843	broad.mit.edu	37	5	172195811	172195811	+	Missense_Mutation	SNP	G	G	A	rs150141714	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:172195811G>A	ENST00000239223.3	-	4	1300	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	353	Tyrosine-protein phosphatase.				cellular response to hormone stimulus (GO:0032870)|endoderm formation (GO:0001706)|inactivation of MAPK activity (GO:0000188)|intracellular signal transduction (GO:0035556)|mitotic cell cycle arrest (GO:0071850)|negative regulation of apoptotic process (GO:0043066)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of meiotic cell cycle (GO:0051447)|peptidyl-threonine dephosphorylation (GO:0035970)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of apoptotic process (GO:0043065)|protein dephosphorylation (GO:0006470)|regulation of apoptotic process (GO:0042981)|regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to estradiol (GO:0032355)|response to glucocorticoid (GO:0051384)|response to hydrogen peroxide (GO:0042542)|response to light stimulus (GO:0009416)|response to oxidative stress (GO:0006979)|response to retinoic acid (GO:0032526)|response to testosterone (GO:0033574)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|protein tyrosine/threonine phosphatase activity (GO:0008330)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GTAGCTCAGCGCACTGTTCGT	0.617													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19016	0.0		0.0	False		,,,				2504	0.0					ENST00000239223.3																			0				NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1057-1059)gCg>gTg		dual specificity phosphatase 1		G	VAL/ALA	6,4400	11.4+/-27.6	0,6,2197	101.0	96.0	98.0		1058	5.4	1.0	5	dbSNP_134	98	0,8600		0,0,4300	yes	missense	DUSP1	NM_004417.3	64	0,6,6497	AA,AG,GG		0.0,0.1362,0.0461	benign	353/368	172195811	6,13000	2203	4300	6503	SO:0001583	missense	1843				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding	g.chr5:172195811G>A	X68277	CCDS4380.1	5q35.1	2011-06-09			ENSG00000120129	ENSG00000120129		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3064	protein-coding gene	gene with protein product		600714		PTPN10		1406996, 7806236	Standard	NM_004417		Approved	HVH1, CL100, MKP-1	uc003mbv.2	P28562	OTTHUMG00000130523	ENST00000239223.3:c.1058C>T	5.37:g.172195811G>A	ENSP00000239223:p.Ala353Val					RP11-779O18.3_ENST00000523005.1_RNA	p.A353V	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)	4	1300	-	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	353			Tyrosine-protein phosphatase.		D3DQL9|Q2V508	Missense_Mutation	SNP	ENST00000239223.3	37	c.1058C>T	CCDS4380.1	.	.	.	.	.	.	.	.	.	.	G	13.89	2.370790	0.42003	0.001362	0.0	ENSG00000120129	ENST00000239223;ENST00000457103;ENST00000434080	T	0.02236	4.38	5.36	5.36	0.76844	.	0.183620	0.47455	D	0.000231	T	0.01061	0.0035	N	0.00347	-1.61	0.41657	D	0.989163	B;B	0.23650	0.003;0.089	B;B	0.12156	0.002;0.007	T	0.68269	-0.5453	10	0.44086	T	0.13	.	19.4492	0.94860	0.0:0.0:1.0:0.0	.	353;310	P28562;B4DNT2	DUS1_HUMAN;.	V	353;326;288	ENSP00000239223:A353V	ENSP00000239223:A353V	A	-	2	0	DUSP1	172128417	1.000000	0.71417	0.970000	0.41538	0.997000	0.91878	6.126000	0.71635	2.669000	0.90835	0.655000	0.94253	GCG		0.617	DUSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252943.3	NM_004417		33	37	0	0	0	1	0	33	37				
CHST11	50515	broad.mit.edu	37	12	105151332	105151332	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:105151332C>T	ENST00000303694.5	+	3	1249	c.810C>T	c.(808-810)caC>caT	p.H270H	CHST11_ENST00000549260.1_Silent_p.H265H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	270					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATCCCTGCCACATCCACTATG	0.557																																						ENST00000303694.5																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(808-810)caC>caT		carbohydrate (chondroitin 4) sulfotransferase 11							117.0	97.0	104.0					12																	105151332		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr12:105151332C>T	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.810C>T	12.37:g.105151332C>T						CHST11_ENST00000549260.1_Silent_p.H265H	p.H270H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN			3	1249	+			270					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.810C>T	CCDS9099.1																																																																																				0.557	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		11	15	0	0	0	1	0	11	15				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			39	61	0	0	0	1	0	39	61				
PDE6B	5158	broad.mit.edu	37	4	658001	658001	+	Missense_Mutation	SNP	A	A	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:658001A>T	ENST00000496514.1	+	17	2141	c.2120A>T	c.(2119-2121)gAg>gTg	p.E707V	PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V|RP11-1191J2.5_ENST00000609172.1_RNA|PDE6B_ENST00000255622.6_Missense_Mutation_p.E707V			P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	707					cytosolic calcium ion homeostasis (GO:0051480)|GMP metabolic process (GO:0046037)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30					Caffeine(DB00201)	ACCCGGAAGGAGATCGTCATG	0.617																																					GBM(71;463 1194 9848 25922 46834)	ENST00000255622.6																			0				NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						c.(2119-2121)gAg>gTg		phosphodiesterase 6B, cGMP-specific, rod, beta							68.0	73.0	71.0					4																	658001		2203	4300	6503	SO:0001583	missense	5158				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	g.chr4:658001A>T	BC000249	CCDS33932.1, CCDS46993.1, CCDS54703.1	4p16.3	2014-01-28	2008-07-31		ENSG00000133256	ENSG00000133256	3.1.4.17	"""Phosphodiesterases"""	8786	protein-coding gene	gene with protein product	"""congenital stationary night blindness 3, autosomal dominant"""	180072		PDEB		1313787	Standard	NM_001145292		Approved	CSNB3, rd1, RP40, CSNBAD2	uc003gap.3	P35913	OTTHUMG00000159909	ENST00000496514.1:c.2120A>T	4.37:g.658001A>T	ENSP00000420295:p.Glu707Val					PDE6B_ENST00000496514.1_Missense_Mutation_p.E707V|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V	p.E707V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763.1	P35913	PDE6B_HUMAN			17	2163	+			707					B7Z9T9|E7ETT3|Q53XN5|Q9BWH5|Q9UD49	Missense_Mutation	SNP	ENST00000496514.1	37	c.2120A>T	CCDS33932.1	.	.	.	.	.	.	.	.	.	.	A	23.9	4.466951	0.84425	.	.	ENSG00000133256	ENST00000255622;ENST00000496514;ENST00000429163;ENST00000471824	T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48	3.79	3.79	0.43588	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.192837	0.46758	D	0.000267	D	0.87585	0.6214	M	0.74258	2.255	0.58432	D	0.999998	D;D	0.76494	0.996;0.999	D;D	0.72625	0.944;0.978	D	0.88394	0.3010	10	0.87932	D	0	.	10.7725	0.46332	1.0:0.0:0.0:0.0	.	707;707	P35913;P35913-2	PDE6B_HUMAN;.	V	707;707;428;67	ENSP00000255622:E707V;ENSP00000420295:E707V;ENSP00000406334:E428V;ENSP00000417852:E67V	ENSP00000255622:E707V	E	+	2	0	PDE6B	648001	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	8.629000	0.90983	1.473000	0.48159	0.397000	0.26171	GAG		0.617	PDE6B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000358109.1	NM_000283		31	33	0	0	0	1	0	31	33				
SYNCRIP	10492	broad.mit.edu	37	6	86324886	86324886	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:86324886C>G	ENST00000369622.3	-	11	1960	c.1460G>C	c.(1459-1461)gGt>gCt	p.G487A	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L|SYNCRIP_ENST00000355238.6_Missense_Mutation_p.G487A	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	487	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATCTTCATAACCATAGTATGG	0.438																																						ENST00000355238.6																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33						c.(1459-1461)gGt>gCt		synaptotagmin binding, cytoplasmic RNA interacting protein							48.0	44.0	45.0					6																	86324886		2203	4298	6501	SO:0001583	missense	10492				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding	g.chr6:86324886C>G	AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.1460G>C	6.37:g.86324886C>G	ENSP00000358635:p.Gly487Ala					SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G487A|RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L	p.G487A	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0389)	11	1666	-		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)	487			3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	ENST00000369622.3	37	c.1460G>C	CCDS5005.1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.372435	0.24857	.	.	ENSG00000135316	ENST00000355238;ENST00000369622	T;T	0.32515	1.47;1.45	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.27629	0.0679	M	0.74881	2.28	0.80722	D	1	B;B;B;B;B;B;B	0.34399	0.323;0.452;0.139;0.218;0.452;0.452;0.323	B;B;B;B;B;B;B	0.35813	0.066;0.139;0.066;0.211;0.139;0.139;0.066	T	0.07271	-1.0781	10	0.33940	T	0.23	.	19.177	0.93605	0.0:1.0:0.0:0.0	.	487;452;389;335;452;487;487	O60506;O60506-2;B7Z645;O60506-5;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.;.	A	487	ENSP00000347380:G487A;ENSP00000358635:G487A	ENSP00000347380:G487A	G	-	2	0	SYNCRIP	86381605	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.051000	0.71072	2.528000	0.85240	0.563000	0.77884	GGT		0.438	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041396.1	NM_006372		15	29	0	0	0	1	0	15	29				
TNS4	84951	broad.mit.edu	37	17	38635967	38635967	+	Silent	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr17:38635967T>C	ENST00000254051.6	-	10	2027	c.1869A>G	c.(1867-1869)aaA>aaG	p.K623K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	623	Phosphatase tensin-type.			K -> E (in Ref. 1; AAN32666 and 3; BAB55413). {ECO:0000305}.	apoptotic process (GO:0006915)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCTGTGACTTTGAAGTGGA	0.617																																						ENST00000254051.6																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30						c.(1867-1869)aaA>aaG		tensin 4							127.0	95.0	106.0					17																	38635967		2203	4300	6503	SO:0001819	synonymous_variant	84951				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	g.chr17:38635967T>C	AF417488	CCDS11368.1	17q21.2	2013-02-14			ENSG00000131746	ENSG00000131746		"""SH2 domain containing"""	24352	protein-coding gene	gene with protein product	"""C terminal tensin like"""	608385				12154022, 12711115	Standard	NM_032865		Approved	CTEN	uc010cxb.3	Q8IZW8	OTTHUMG00000133330	ENST00000254051.6:c.1869A>G	17.37:g.38635967T>C							p.K623K	NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	STAD - Stomach adenocarcinoma(5;5.91e-05)		10	2027	-		Breast(137;0.000496)	623	K -> E (in Ref. 1; AAN32666 and 3; BAB55413).		Phosphatase tensin-type.		A6NMJ7|Q71RB7|Q8WV64|Q96JV4	Silent	SNP	ENST00000254051.6	37	c.1869A>G	CCDS11368.1																																																																																				0.617	TNS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257154.3	NM_032865		3	67	0	0	0	1	0	3	67				
FAT1	2195	broad.mit.edu	37	4	187540255	187540255	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:187540255G>A	ENST00000441802.2	-	10	7694	c.7485C>T	c.(7483-7485)aaC>aaT	p.N2495N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2495	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCATATTCGTTCTGAAGGA	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(7483-7485)aaC>aaT		FAT atypical cadherin 1							241.0	228.0	232.0					4																	187540255		1903	4119	6022	SO:0001819	synonymous_variant	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187540255G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7485C>T	4.37:g.187540255G>A		HNSCC(5;0.00058)					p.N2495N	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			10	7694	-			2495			Cadherin 23.			Silent	SNP	ENST00000441802.2	37	c.7485C>T	CCDS47177.1																																																																																				0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		116	39	0	0	0	1	0	116	39				
GABRG3	2567	broad.mit.edu	37	15	27772702	27772702	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:27772702C>T	ENST00000333743.6	+	8	1243	c.989C>T	c.(988-990)gCg>gTg	p.A330V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	330					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A330V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCTTCGCCGCGCTGATGGAG	0.547																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6																			1	Substitution - Missense(1)	p.A330V(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(988-990)gCg>gTg		gamma-aminobutyric acid (GABA) A receptor, gamma 3							113.0	103.0	106.0					15																	27772702		2155	4263	6418	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772702C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.989C>T	15.37:g.27772702C>T	ENSP00000331912:p.Ala330Val					RP11-100M12.3_ENST00000556642.1_RNA	p.A330V	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1243	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	330					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.989C>T	CCDS45195.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.4|21.4	4.150729|4.150729	0.78001|0.78001	.|.	.|.	ENSG00000182256|ENSG00000182256	ENST00000333743|ENST00000451330	D|.	0.87256|.	-2.23|.	5.48|5.48	4.56|4.56	0.56223|0.56223	Neurotransmitter-gated ion-channel transmembrane domain (2);|.	0.052637|.	0.85682|.	N|.	0.000000|.	T|T	0.69314|0.69314	0.3097|0.3097	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.80764|.	0.994|.	T|T	0.68277|0.68277	-0.5451|-0.5451	10|5	0.87932|.	D|.	0|.	.|.	13.4591|13.4591	0.61217|0.61217	0.0:0.9246:0.0:0.0754|0.0:0.9246:0.0:0.0754	.|.	330|.	Q99928|.	GBRG3_HUMAN|.	V|C	330|93	ENSP00000331912:A330V|.	ENSP00000331912:A330V|.	A|R	+|+	2|1	0|0	GABRG3|GABRG3	25446297|25446297	1.000000|1.000000	0.71417|0.71417	0.515000|0.515000	0.27774|0.27774	0.397000|0.397000	0.30659|0.30659	7.461000|7.461000	0.80834|0.80834	1.306000|1.306000	0.44926|0.44926	0.563000|0.563000	0.77884|0.77884	GCG|CGC		0.547	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			19	14	0	0	0	1	0	19	14				
MYO10	4651	broad.mit.edu	37	5	16684040	16684040	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:16684040G>A	ENST00000513610.1	-	30	4449	c.3995C>T	c.(3994-3996)aCc>aTc	p.T1332I	MYO10_ENST00000274203.9_Missense_Mutation_p.T689I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000515803.1_Missense_Mutation_p.T671I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1332					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACATCCAAGGTGCCCTGGAA	0.463																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3994-3996)aCc>aTc		myosin X							83.0	83.0	83.0					5																	16684040		2045	4186	6231	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16684040G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3995C>T	5.37:g.16684040G>A	ENSP00000421280:p.Thr1332Ile					MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000515803.1_Missense_Mutation_p.T671I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000274203.9_Missense_Mutation_p.T689I	p.T1332I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			30	4449	-			1332					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3995C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642989	0.87859	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01	5.4	5.4	0.78164	Pleckstrin homology-type (1);	.	.	.	.	T	0.80325	0.4602	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.984;0.995;0.998	T	0.81699	-0.0814	9	0.72032	D	0.01	.	19.5496	0.95312	0.0:0.0:1.0:0.0	.	211;972;1332	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	I	1332;671;689;671;689	ENSP00000421280:T1332I;ENSP00000425051:T671I;ENSP00000274203:T689I;ENSP00000421170:T671I;ENSP00000391106:T689I	ENSP00000274203:T689I	T	-	2	0	MYO10	16737040	1.000000	0.71417	0.962000	0.40283	0.945000	0.59286	9.813000	0.99286	2.688000	0.91661	0.655000	0.94253	ACC		0.463	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		11	13	0	0	0	1	0	11	13				
FREM2	341640	broad.mit.edu	37	13	39263024	39263024	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr13:39263024G>A	ENST00000280481.7	+	1	1759	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	515					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTGGCAGCCGGCCAGGTGGT	0.602																																						ENST00000280481.7																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148						c.(1543-1545)Ggc>Agc		FRAS1 related extracellular matrix protein 2							26.0	25.0	25.0					13																	39263024		2203	4299	6502	SO:0001583	missense	341640				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr13:39263024G>A	BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1543G>A	13.37:g.39263024G>A	ENSP00000280481:p.Gly515Ser						p.G515S	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)	1	1759	+		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)	515					Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	c.1543G>A	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960626	0.74016	.	.	ENSG00000150893	ENST00000280481	T	0.25579	1.79	5.4	5.4	0.78164	.	0.051165	0.85682	N	0.000000	T	0.43523	0.1251	L	0.43554	1.36	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.25257	-1.0137	10	0.59425	D	0.04	.	19.1654	0.93555	0.0:0.0:1.0:0.0	.	515	Q5SZK8	FREM2_HUMAN	S	515	ENSP00000280481:G515S	ENSP00000280481:G515S	G	+	1	0	FREM2	38161024	1.000000	0.71417	0.960000	0.40013	0.930000	0.56654	7.962000	0.87912	2.538000	0.85594	0.561000	0.74099	GGC		0.602	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2	NM_207361		4	8	0	0	0	1	0	4	8				
OR2T4	127074	broad.mit.edu	37	1	248525411	248525411	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:248525411T>C	ENST00000366475.1	+	1	529	c.529T>C	c.(529-531)Tca>Cca	p.S177P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	177						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCTTCCTGTCATCAGGCTG	0.532																																						ENST00000366475.1																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56						c.(529-531)Tca>Cca		olfactory receptor, family 2, subfamily T, member 4							266.0	232.0	243.0					1																	248525411		2203	4300	6503	SO:0001583	missense	127074				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248525411T>C	BK004464	CCDS31113.1	1q44	2012-08-09			ENSG00000196944	ENSG00000196944		"""GPCR / Class A : Olfactory receptors"""	15016	protein-coding gene	gene with protein product							Standard	NM_001004696		Approved	OR2T4Q	uc001ieh.1	Q8NH00	OTTHUMG00000040453	ENST00000366475.1:c.529T>C	1.37:g.248525411T>C	ENSP00000355431:p.Ser177Pro						p.S177P	NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	529	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		177					Q6IEZ8	Missense_Mutation	SNP	ENST00000366475.1	37	c.529T>C	CCDS31113.1	.	.	.	.	.	.	.	.	.	.	T	2.592	-0.294943	0.05568	.	.	ENSG00000196944	ENST00000366475	T	0.38240	1.15	3.48	0.418	0.16429	GPCR, rhodopsin-like superfamily (1);	1.058640	0.07443	N	0.897735	T	0.27866	0.0686	L	0.43152	1.355	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.36163	-0.9759	10	0.66056	D	0.02	.	2.6302	0.04941	0.3488:0.0:0.4402:0.2111	.	177	Q8NH00	OR2T4_HUMAN	P	177	ENSP00000355431:S177P	ENSP00000355431:S177P	S	+	1	0	OR2T4	246592034	0.197000	0.23362	0.009000	0.14445	0.004000	0.04260	0.693000	0.25497	0.026000	0.15269	-0.359000	0.07587	TCA		0.532	OR2T4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097349.2	NM_001004696		77	108	0	0	0	1	0	77	108				
SCN10A	6336	broad.mit.edu	37	3	38739124	38739124	+	Missense_Mutation	SNP	G	G	A	rs370779258		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38739124G>A	ENST00000449082.2	-	27	5586	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1863	IQ.				AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R1863W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	ACATAGCTCCGATAGGCCTTT	0.488																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.R1863W(1)	large_intestine(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(5587-5589)Cgg>Tgg		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	G	TRP/ARG	0,4406		0,0,2203	159.0	137.0	145.0		5587	2.0	1.0	3		145	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCN10A	NM_006514.2	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1863/1957	38739124	1,13005	2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38739124G>A	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.5587C>T	3.37:g.38739124G>A	ENSP00000390600:p.Arg1863Trp						p.R1863W	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	27	5586	-			1863			IQ.		A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.5587C>T	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	G	15.45	2.835830	0.50951	0.0	1.16E-4	ENSG00000185313	ENST00000449082	D	0.97480	-4.4	5.09	1.97	0.26223	.	0.000000	0.64402	D	0.000001	D	0.97679	0.9239	M	0.62088	1.915	0.42936	D	0.994332	D	0.89917	1.0	D	0.91635	0.999	D	0.97791	1.0238	10	0.87932	D	0	.	13.7464	0.62879	0.0:0.0:0.4734:0.5266	.	1863	Q9Y5Y9	SCNAA_HUMAN	W	1863	ENSP00000390600:R1863W	ENSP00000390600:R1863W	R	-	1	2	SCN10A	38714128	1.000000	0.71417	0.980000	0.43619	0.994000	0.84299	1.142000	0.31540	0.678000	0.31325	-0.182000	0.12963	CGG		0.488	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		30	41	0	0	0	1	0	30	41				
FAT3	120114	broad.mit.edu	37	11	92535041	92535041	+	Silent	SNP	C	C	T	rs192587610	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:92535041C>T	ENST00000298047.6	+	9	8879	c.8862C>T	c.(8860-8862)tcC>tcT	p.S2954S	FAT3_ENST00000409404.2_Silent_p.S2954S|FAT3_ENST00000525166.1_Silent_p.S2804S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2954	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGACACATCCGACGTTAATC	0.527										TCGA Ovarian(4;0.039)			C|||	7	0.00139776	0.0008	0.0086	5008	,	,		21701	0.0		0.0	False		,,,				2504	0.0					ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(8860-8862)tcC>tcT		FAT atypical cadherin 3		C		2,3954		0,2,1976	63.0	65.0	65.0		8862	-10.2	0.1	11		65	0,8300		0,0,4150	no	coding-synonymous	FAT3	NM_001008781.2		0,2,6126	TT,TC,CC		0.0,0.0506,0.0163		2954/4558	92535041	2,12254	1978	4150	6128	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92535041C>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8862C>T	11.37:g.92535041C>T		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.S2804S|FAT3_ENST00000409404.2_Silent_p.S2954S	p.S2954S			Q8TDW7	FAT3_HUMAN			9	8879	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2954			Cadherin 27.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.8862C>T																																																																																					0.527	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		21	28	0	0	0	1	0	21	28				
XIST	7503	broad.mit.edu	37	X	73061471	73061471	+	lincRNA	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:73061471C>A	ENST00000429829.1	-	0	11117					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGCTATCTCACTGTTGAAATT	0.348																																						ENST00000429829.1																			0																				31.0	32.0	32.0					X																	73061471		876	1988	2864			0							g.chrX:73061471C>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73061471C>A								NR_001564.2						0	11117	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.348	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		3	38	1	0	6.4e-05	1	6.57778e-05	3	38				
MNDA	4332	broad.mit.edu	37	1	158815755	158815755	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:158815755T>C	ENST00000368141.4	+	5	1210	c.949T>C	c.(949-951)Tct>Cct	p.S317P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	317	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAAGCAAGCATCTGGAACAAT	0.318																																						ENST00000368141.4																			0				NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(949-951)Tct>Cct		myeloid cell nuclear differentiation antigen							71.0	75.0	74.0					1																	158815755		2203	4300	6503	SO:0001583	missense	4332				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:158815755T>C	BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.949T>C	1.37:g.158815755T>C	ENSP00000357123:p.Ser317Pro						p.S317P	NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN			5	1210	+	all_hematologic(112;0.0378)		317			HIN-200.			Missense_Mutation	SNP	ENST00000368141.4	37	c.949T>C	CCDS1177.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	12.81|12.81	2.050809|2.050809	0.36181|0.36181	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000438394|ENST00000368141	.|T	.|0.16073	.|2.37	4.28|4.28	-2.94|-2.94	0.05581|0.05581	.|HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.|0.504521	.|0.14974	.|N	.|0.287653	T|T	0.02418|0.02418	0.0074|0.0074	L|L	0.28344|0.28344	0.845|0.845	0.09310|0.09310	N|N	1|1	.|P	.|0.42357	.|0.777	.|B	.|0.37888	.|0.26	T|T	0.35847|0.35847	-0.9772|-0.9772	5|10	.|0.39692	.|T	.|0.17	-0.321|-0.321	0.8801|0.8801	0.01232|0.01232	0.1642:0.3003:0.1689:0.3665|0.1642:0.3003:0.1689:0.3665	.|.	.|317	.|P41218	.|MNDA_HUMAN	T|P	22|317	.|ENSP00000357123:S317P	.|ENSP00000357123:S317P	I|S	+|+	2|1	0|0	MNDA|MNDA	157082379|157082379	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.614000|0.614000	0.37383|0.37383	-2.624000|-2.624000	0.00876|0.00876	-0.295000|-0.295000	0.08960|0.08960	0.533000|0.533000	0.62120|0.62120	ATC|TCT		0.318	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059069.1	NM_002432		40	68	0	0	0	1	0	40	68				
SEL1L2	80343	broad.mit.edu	37	20	13856732	13856732	+	Silent	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:13856732C>T	ENST00000284951.5	-	12	1130	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	352						integral component of membrane (GO:0016021)		p.P352P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGTTATTTTGCGGCACGGCAG	0.348																																						ENST00000284951.5																			1	Substitution - coding silent(1)	p.P352P(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(1054-1056)ccG>ccA		sel-1 suppressor of lin-12-like 2 (C. elegans)							173.0	165.0	168.0					20																	13856732		1915	4123	6038	SO:0001819	synonymous_variant	80343					integral to membrane	binding	g.chr20:13856732C>T	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.1056G>A	20.37:g.13856732C>T						SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P	p.P352P			Q5TEA6	SE1L2_HUMAN			12	1130	-			352					B4DXX5	Silent	SNP	ENST00000284951.5	37	c.1056G>A																																																																																					0.348	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		45	72	0	0	0	1	0	45	72				
PDGFRA	5156	broad.mit.edu	37	4	55131185	55131185	+	Missense_Mutation	SNP	T	T	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131185T>G	ENST00000257290.5	+	5	1059	c.728T>G	c.(727-729)gTt>gGt	p.V243G	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	243	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AATGAGGTGGTTGACCTTCAA	0.473			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(727-729)gTt>gGt		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						152.0	143.0	146.0					4																	55131185		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131185T>G	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.728T>G	4.37:g.55131185T>G	ENSP00000257290:p.Val243Gly	TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	p.V243G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1059	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		243			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.728T>G	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.349051	0.82132	.	.	ENSG00000134853	ENST00000257290	T	0.67865	-0.29	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.29529	U	0.011890	T	0.81955	0.4932	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.963	D	0.84430	0.0576	10	0.72032	D	0.01	.	15.3461	0.74337	0.0:0.0:0.0:1.0	.	243;243	P16234-3;P16234	.;PGFRA_HUMAN	G	243	ENSP00000257290:V243G	ENSP00000257290:V243G	V	+	2	0	PDGFRA	54825942	1.000000	0.71417	0.997000	0.53966	0.755000	0.42902	6.492000	0.73654	2.037000	0.60232	0.459000	0.35465	GTT		0.473	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		8	1428	0	0	0	1	0	8	1428				
CAMSAP1	157922	broad.mit.edu	37	9	138713204	138713204	+	Silent	SNP	G	G	A	rs200971914		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:138713204G>A	ENST00000389532.4	-	11	3367	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1101					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCGGCCTTCCGGAACGGGAAT	0.642													g|||	1	0.000199681	0.0	0.0	5008	,	,		15592	0.0		0.001	False		,,,				2504	0.0					ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(3301-3303)tcC>tcT		calmodulin regulated spectrin-associated protein 1							34.0	41.0	39.0					9																	138713204		2203	4300	6503	SO:0001819	synonymous_variant	157922					cytoplasm|microtubule		g.chr9:138713204G>A	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.3303C>T	9.37:g.138713204G>A						CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S|CAMSAP1_ENST00000483991.1_5'UTR	p.S1101S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	11	3367	-			1101					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Silent	SNP	ENST00000389532.4	37	c.3303C>T	CCDS35176.2																																																																																				0.642	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		20	30	0	0	0	1	0	20	30				
PRF1	5551	broad.mit.edu	37	10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23	GRCh37	CM021668	PRF1	M		c.(694-696)cGc>cAc		perforin 1 (pore forming protein)							56.0	50.0	52.0					10																	72358782		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358782C>T	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.695G>A	10.37:g.72358782C>T	ENSP00000398568:p.Arg232His					PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	855	-			232			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.695G>A	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	C	18.96	3.733686	0.69189	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.84873	-1.91;-1.91	5.76	3.9	0.45041	Membrane attack complex component/perforin (MACPF) domain (3);	0.489144	0.21436	N	0.074564	D	0.87317	0.6147	M	0.68952	2.095	0.28340	N	0.921407	D	0.65815	0.995	P	0.55785	0.784	T	0.80955	-0.1151	10	0.48119	T	0.1	-49.3741	8.5644	0.33531	0.0:0.7593:0.0:0.2407	.	232	P14222	PERF_HUMAN	H	232	ENSP00000362305:R232H;ENSP00000398568:R232H	ENSP00000316746:R232H	R	-	2	0	PRF1	72028788	0.002000	0.14202	0.888000	0.34837	0.739000	0.42172	-0.019000	0.12546	1.424000	0.47217	0.655000	0.94253	CGC		0.657	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		3	29	0	0	0	1	0	3	29				
SCN10A	6336	broad.mit.edu	37	3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	AGGGTAATGACGCTAAAATCC	0.458																																						ENST00000449082.2																			1	Substitution - Missense(1)	p.V196I(1)	large_intestine(1)	NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150						c.(586-588)Gtc>Atc		sodium channel, voltage-gated, type X, alpha subunit	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)						169.0	161.0	163.0					3																	38812783		2203	4300	6503	SO:0001583	missense	6336				sensory perception	voltage-gated sodium channel complex		g.chr3:38812783C>T	AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.586G>A	3.37:g.38812783C>T	ENSP00000390600:p.Val196Ile						p.V196I	NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	4	585	-			196					A6NDQ1	Missense_Mutation	SNP	ENST00000449082.2	37	c.586G>A	CCDS33736.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.513523	0.85389	.	.	ENSG00000185313	ENST00000449082	D	0.98567	-5.0	5.15	5.15	0.70609	Ion transport (1);	0.061365	0.64402	D	0.000004	D	0.98429	0.9477	L	0.48935	1.535	0.49051	D	0.999744	D	0.89917	1.0	D	0.83275	0.996	D	0.99879	1.1109	10	0.87932	D	0	.	18.4138	0.90561	0.0:1.0:0.0:0.0	.	196	Q9Y5Y9	SCNAA_HUMAN	I	196	ENSP00000390600:V196I	ENSP00000390600:V196I	V	-	1	0	SCN10A	38787787	1.000000	0.71417	0.991000	0.47740	0.970000	0.65996	7.317000	0.79018	2.665000	0.90641	0.655000	0.94253	GTC		0.458	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109745.3	NM_006514		4	92	0	0	0	1	0	4	92				
PDGFRA	5156	broad.mit.edu	37	4	55131197	55131197	+	Missense_Mutation	SNP	G	G	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131197G>C	ENST00000257290.5	+	5	1071	c.740G>C	c.(739-741)tGg>tCg	p.W247S	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	247	Ig-like C2-type 3.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	GACCTTCAATGGACTTACCCT	0.478			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		0				NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(739-741)tGg>tCg		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						138.0	130.0	132.0					4																	55131197		2203	4300	6503	SO:0001583	missense	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55131197G>C	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.740G>C	4.37:g.55131197G>C	ENSP00000257290:p.Trp247Ser	TSP Lung(21;0.16)				PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	p.W247S	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		5	1071	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		247			Ig-like C2-type 3.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	ENST00000257290.5	37	c.740G>C	CCDS3495.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557196	0.65425	.	.	ENSG00000134853	ENST00000257290	D	0.96300	-3.97	5.35	5.35	0.76521	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.30538	U	0.009404	D	0.98239	0.9417	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99167	1.0863	10	0.87932	D	0	.	19.0765	0.93165	0.0:0.0:1.0:0.0	.	247;247	P16234-3;P16234	.;PGFRA_HUMAN	S	247	ENSP00000257290:W247S	ENSP00000257290:W247S	W	+	2	0	PDGFRA	54825954	1.000000	0.71417	1.000000	0.80357	0.394000	0.30568	7.968000	0.87980	2.518000	0.84900	0.561000	0.74099	TGG		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		27	1263	0	0	0	1	0	27	1263				
PCF11	51585	broad.mit.edu	37	11	82877730	82877730	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:82877730G>A	ENST00000298281.4	+	5	2243	c.1791G>A	c.(1789-1791)tgG>tgA	p.W597*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	597					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAAGATGGAAATCTGGTT	0.343																																						ENST00000298281.4																			0				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						c.(1789-1791)tgG>tgA		PCF11 cleavage and polyadenylation factor subunit							74.0	76.0	76.0					11																	82877730		1745	3809	5554	SO:0001587	stop_gained	51585				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex		g.chr11:82877730G>A	AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.1791G>A	11.37:g.82877730G>A	ENSP00000298281:p.Trp597*						p.W597*	NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN			5	2243	+			597					A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	ENST00000298281.4	37	c.1791G>A	CCDS44689.1	.	.	.	.	.	.	.	.	.	.	G	42	9.210834	0.99101	.	.	ENSG00000165494	ENST00000298281;ENST00000530660;ENST00000530304	.	.	.	6.07	6.07	0.98685	.	0.000000	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.6593	0.99626	0.0:0.0:1.0:0.0	.	.	.	.	X	597	.	.	W	+	3	0	PCF11	82555378	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.912000	0.92726	2.885000	0.99019	0.655000	0.94253	TGG		0.343	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392548.2	NM_015885		29	48	0	0	0	1	0	29	48				
EPHA7	2045	broad.mit.edu	37	6	93964444	93964444	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:93964444T>C	ENST00000369303.4	-	14	2637	c.2453A>G	c.(2452-2454)gAt>gGt	p.D818G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	818	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTCCATACATCACTGGCTGA	0.383																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(2452-2454)gAt>gGt		EPH receptor A7							135.0	117.0	123.0					6																	93964444		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93964444T>C	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.2453A>G	6.37:g.93964444T>C	ENSP00000358309:p.Asp818Gly						p.D818G	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	14	2637	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	818			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.2453A>G	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	T	27.9	4.874037	0.91664	.	.	ENSG00000135333	ENST00000369303	D	0.88818	-2.43	5.51	5.51	0.81932	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.96876	0.8980	H	0.99249	4.485	0.80722	D	1	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.97110	0.992;1.0;1.0	D	0.98725	1.0710	10	0.87932	D	0	.	15.6344	0.76941	0.0:0.0:0.0:1.0	.	814;813;818	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	G	818	ENSP00000358309:D818G	ENSP00000358309:D818G	D	-	2	0	EPHA7	94021165	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.031000	0.88826	2.105000	0.64084	0.533000	0.62120	GAT		0.383	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			22	50	0	0	0	1	0	22	50				
CD93	22918	broad.mit.edu	37	20	23065956	23065956	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:23065956G>A	ENST00000246006.4	-	1	1021	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	292	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.R292G(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCAGCAGCCGGAATCCTGGT	0.627																																						ENST00000246006.4																			1	Substitution - Missense(1)	p.R292G(1)	large_intestine(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(874-876)Cgg>Tgg		CD93 molecule							70.0	78.0	75.0					20																	23065956		2203	4300	6503	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065956G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.874C>T	20.37:g.23065956G>A	ENSP00000246006:p.Arg292Trp						p.R292W	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1021	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		292			EGF-like 1.		O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.874C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545734	0.65198	.	.	ENSG00000125810	ENST00000246006;ENST00000413585	D	0.87571	-2.27	5.51	3.52	0.40303	Epidermal growth factor-like (1);EGF-like region, conserved site (1);	0.368951	0.22983	N	0.053290	D	0.92084	0.7491	M	0.86268	2.805	0.32524	N	0.535883	D	0.89917	1.0	D	0.63283	0.913	D	0.92303	0.5851	10	0.66056	D	0.02	-42.1424	8.8426	0.35151	0.0:0.2451:0.4849:0.27	.	292	Q9NPY3	C1QR1_HUMAN	W	292	ENSP00000246006:R292W	ENSP00000246006:R292W	R	-	1	2	CD93	23013956	0.119000	0.22226	0.998000	0.56505	0.859000	0.49053	0.456000	0.21859	0.753000	0.32945	0.650000	0.86243	CGG		0.627	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		54	80	0	0	0	1	0	54	80				
TLL1	7092	broad.mit.edu	37	4	166795174	166795174	+	Missense_Mutation	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:166795174A>G	ENST00000061240.2	+	1	765	c.118A>G	c.(118-120)Aac>Gac	p.N40D	TLL1_ENST00000513213.1_Missense_Mutation_p.N40D|TLL1_ENST00000507499.1_Missense_Mutation_p.N40D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	40					cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTGATGGGAACGAAGAGGA	0.572																																						ENST00000061240.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(118-120)Aac>Gac		tolloid-like 1							192.0	200.0	197.0					4																	166795174		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166795174A>G	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.118A>G	4.37:g.166795174A>G	ENSP00000061240:p.Asn40Asp					TLL1_ENST00000513213.1_Missense_Mutation_p.N40D|TLL1_ENST00000507499.1_Missense_Mutation_p.N40D	p.N40D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	1	765	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	40					B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.118A>G	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	A	1.019	-0.685376	0.03328	.	.	ENSG00000038295	ENST00000061240;ENST00000507499;ENST00000513213	T;T;T	0.57595	0.52;0.45;0.39	4.29	-5.89	0.02282	.	0.463064	0.19333	U	0.116850	T	0.22589	0.0545	N	0.19112	0.55	0.09310	N	1	B;B	0.13594	0.008;0.002	B;B	0.09377	0.004;0.004	T	0.18871	-1.0323	10	0.13853	T	0.58	.	2.6262	0.04930	0.435:0.1261:0.3278:0.1111	.	40;40	E9PD25;O43897	.;TLL1_HUMAN	D	40	ENSP00000061240:N40D;ENSP00000426082:N40D;ENSP00000422937:N40D	ENSP00000061240:N40D	N	+	1	0	TLL1	167014624	0.005000	0.15991	0.003000	0.11579	0.002000	0.02628	0.679000	0.25291	-0.580000	0.05944	-0.464000	0.05259	AAC		0.572	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			96	50	0	0	0	1	0	96	50				
TMEM2	23670	broad.mit.edu	37	9	74355062	74355062	+	Missense_Mutation	SNP	C	C	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:74355062C>A	ENST00000377044.4	-	5	1660	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	374					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCCTTCCCGCCACTGCTATG	0.433																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(1120-1122)gGc>gTc		transmembrane protein 2							112.0	106.0	108.0					9																	74355062		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74355062C>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.1121G>T	9.37:g.74355062C>A	ENSP00000366243:p.Gly374Val					TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V	p.G374V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	5	1660	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	374					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.1121G>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.169920	0.78452	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.74526	-0.85;-0.85	5.65	5.65	0.86999	.	0.095984	0.64402	D	0.000001	T	0.81983	0.4938	M	0.68317	2.08	0.80722	D	1	D;P	0.55800	0.973;0.724	P;B	0.53518	0.728;0.19	T	0.81497	-0.0906	10	0.45353	T	0.12	.	19.7153	0.96115	0.0:1.0:0.0:0.0	.	374;374	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	374	ENSP00000366243:G374V;ENSP00000366266:G374V	ENSP00000366243:G374V	G	-	2	0	TMEM2	73544882	1.000000	0.71417	0.994000	0.49952	0.909000	0.53808	7.151000	0.77411	2.673000	0.90976	0.491000	0.48974	GGC		0.433	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		9	79	1	0	0.000274275	1	0.000274275	9	79				
STAM	8027	broad.mit.edu	37	10	17756581	17756581	+	Missense_Mutation	SNP	C	C	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:17756581C>G	ENST00000377524.3	+	14	1640	c.1425C>G	c.(1423-1425)agC>agG	p.S475R	STAM_ENST00000540523.1_Missense_Mutation_p.S364R	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	475					endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	SH3/SH2 adaptor activity (GO:0005070)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATATCCCAGCCAGGCGCCAG	0.473																																						ENST00000377524.3																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(1423-1425)agC>agG		signal transducing adaptor molecule (SH3 domain and ITAM motif) 1							75.0	76.0	76.0					10																	17756581		2203	4300	6503	SO:0001583	missense	8027				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	g.chr10:17756581C>G	U43899	CCDS7122.1	10p14-p13	2009-04-29			ENSG00000136738	ENSG00000136738			11357	protein-coding gene	gene with protein product	"""HSE1 homolog (S. cerevisiae)"""	601899				8780729	Standard	NM_003473		Approved	STAM1	uc001ipj.2	Q92783	OTTHUMG00000017749	ENST00000377524.3:c.1425C>G	10.37:g.17756581C>G	ENSP00000366746:p.Ser475Arg					STAM_ENST00000540523.1_Missense_Mutation_p.S364R	p.S475R	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN			14	1640	+			475					B0YJ99|D3DRU5|Q8N6D9	Missense_Mutation	SNP	ENST00000377524.3	37	c.1425C>G	CCDS7122.1	.	.	.	.	.	.	.	.	.	.	C	8.884	0.952250	0.18431	.	.	ENSG00000136738	ENST00000377524;ENST00000540523	T;T	0.39787	1.36;1.06	5.4	3.56	0.40772	.	0.835709	0.11410	N	0.566868	T	0.26412	0.0645	N	0.14661	0.345	0.41971	D	0.99075	B;B	0.32245	0.361;0.01	B;B	0.29942	0.109;0.025	T	0.02646	-1.1129	10	0.25751	T	0.34	-0.126	11.947	0.52934	0.0:0.8585:0.0:0.1415	.	364;475	B4DZT2;Q92783	.;STAM1_HUMAN	R	475;364	ENSP00000366746:S475R;ENSP00000438073:S364R	ENSP00000366746:S475R	S	+	3	2	STAM	17796587	0.934000	0.31675	0.983000	0.44433	0.039000	0.13416	1.821000	0.39041	0.652000	0.30806	-0.444000	0.05651	AGC		0.473	STAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047039.1	NM_003473		47	102	0	0	0	1	0	47	102				
ABCA4	24	broad.mit.edu	37	1	94471002	94471002	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:94471002C>T	ENST00000370225.3	-	44	6228	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K|ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2048	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCACCTTTTCGATTTCTTCT	0.448																																						ENST00000370225.3																			0				NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147						c.(6142-6144)Gaa>Aaa		ATP-binding cassette, sub-family A (ABC1), member 4							108.0	106.0	107.0					1																	94471002		2203	4300	6503	SO:0001583	missense	24				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr1:94471002C>T	U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.6142G>A	1.37:g.94471002C>T	ENSP00000359245:p.Glu2048Lys					ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K|ABCA4_ENST00000465352.1_5'UTR	p.E2048K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)	44	6228	-		all_lung(203;0.000757)|Lung NSC(277;0.00335)	2048			ABC transporter 2.		O15112|O60438|O60915|Q0QD48|Q4LE31	Missense_Mutation	SNP	ENST00000370225.3	37	c.6142G>A	CCDS747.1	.	.	.	.	.	.	.	.	.	.	C	5.891	0.348450	0.11126	.	.	ENSG00000198691	ENST00000546054;ENST00000370225;ENST00000536513;ENST00000535881	D;D;D	0.93763	-3.28;-3.28;-3.28	5.63	1.68	0.24146	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.681206	0.15936	N	0.237426	T	0.71426	0.3338	N	0.20357	0.565	0.09310	N	0.999999	B;B	0.13594	0.008;0.003	B;B	0.10450	0.005;0.002	T	0.59783	-0.7389	10	0.05620	T	0.96	.	11.9419	0.52905	0.0:0.7001:0.0:0.2999	.	167;2048	B4DX12;P78363	.;ABCA4_HUMAN	K	840;2048;318;167	ENSP00000359245:E2048K;ENSP00000439707:E318K;ENSP00000443203:E167K	ENSP00000359245:E2048K	E	-	1	0	ABCA4	94243590	0.000000	0.05858	0.004000	0.12327	0.099000	0.18886	0.133000	0.15912	0.433000	0.26313	-0.136000	0.14681	GAA		0.448	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029320.1	NM_000350		31	69	0	0	0	1	0	31	69				
P2RY8	286530	broad.mit.edu	37	X	1585386	1585386	+	Silent	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:1585386G>A	ENST00000381297.4	-	2	276	c.66C>T	c.(64-66)atC>atT	p.I22I	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCACCGCGATCGCCGGGT	0.697			T	CRLF2	"""B-ALL, Downs associated ALL"""								g|||	1	0.000199681	0.0	0.0	5008	,	,		12375	0.001		0.0	False		,,,				2504	0.0					ENST00000381297.4				Dom	yes		"""X,Y"""	Xp22.3; Yp11.3	286530	T	"""purinergic receptor P2Y, G-protein coupled, 8"""			L	CRLF2		"""B-ALL, Downs associated ALL"""		0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23						c.(64-66)atC>atT		purinergic receptor P2Y, G-protein coupled, 8							33.0	37.0	36.0					X																	1585386		2203	4294	6497	SO:0001819	synonymous_variant	286530					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:1585386G>A	AA804531	CCDS14115.1	Xp22.33 and Yp11.3	2012-08-08			ENSG00000182162	ENSG00000182162		"""Pseudoautosomal regions / PAR1"", ""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	15524	protein-coding gene	gene with protein product		300525				11004484	Standard	NM_178129		Approved	P2Y8	uc004cpz.2	Q86VZ1	OTTHUMG00000021060	ENST00000381297.4:c.66C>T	X.37:g.1585386G>A						P2RY8_ENST00000460672.1_5'UTR	p.I22I	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN			2	276	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	22						Silent	SNP	ENST00000381297.4	37	c.66C>T	CCDS14115.1																																																																																				0.697	P2RY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055602.1	NM_178129		5	24	0	0	0	1	0	5	24				
TRBV9	28586	broad.mit.edu	37	7	142239993	142239993	+	RNA	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr7:142239993A>G	ENST00000390363.2	-	0	65				TRBV5-3_ENST00000390362.1_RNA					T cell receptor beta variable 9																		GCCACACAGCAGAGGAGCCTG	0.527																																						ENST00000390363.2																			0																				80.0	88.0	85.0					7																	142239993		1946	4133	6079			0							g.chr7:142239993A>G	L36092		7q34	2012-02-07			ENSG00000211716	ENSG00000211716		"""T cell receptors / TRB locus"""	12246	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TCRBV1S1A1N1, TCRBV9S1			OTTHUMG00000158527		7.37:g.142239993A>G														0	65	-									RNA	SNP	ENST00000390363.2	37																																																																																						0.527	TRBV9-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351233.1	NG_001333		31	35	0	0	0	1	0	31	35				
SPATC1	375686	broad.mit.edu	37	8	145095874	145095874	+	Missense_Mutation	SNP	G	G	A			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:145095874G>A	ENST00000377470.3	+	3	1274	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	391						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCCACCTCGTACCTCATCC	0.622																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(1171-1173)cGt>cAt		spermatogenesis and centriole associated 1							219.0	96.0	138.0					8																	145095874		2203	4300	6503	SO:0001583	missense	375686							g.chr8:145095874G>A	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1172G>A	8.37:g.145095874G>A	ENSP00000366690:p.Arg391His					SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H	p.R391H	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	1274	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		391					B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	ENST00000377470.3	37	c.1172G>A	CCDS6413.2	.	.	.	.	.	.	.	.	.	.	G	14.77	2.633664	0.47049	.	.	ENSG00000186583	ENST00000377470;ENST00000447830	T	0.59502	0.26	4.06	2.2	0.27929	.	1.130170	0.06771	N	0.783439	T	0.66829	0.2829	L	0.57536	1.79	0.09310	N	1	D;D	0.76494	0.999;0.994	D;P	0.64595	0.927;0.809	T	0.48969	-0.8987	10	0.24483	T	0.36	-1.0427	5.6227	0.17465	0.1153:0.2015:0.6832:0.0	.	391;391	B4DWW9;Q76KD6	.;SPERI_HUMAN	H	391	ENSP00000366690:R391H	ENSP00000366690:R391H	R	+	2	0	SPATC1	145167862	0.011000	0.17503	0.001000	0.08648	0.118000	0.20060	1.198000	0.32223	0.275000	0.22094	0.462000	0.41574	CGT		0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		23	30	0	0	0	1	0	23	30				
DCDC1	341019	broad.mit.edu	37	11	31312192	31312192	+	Splice_Site	SNP	A	A	G			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:31312192A>G	ENST00000452803.1	-	7	1162		c.e7+1		DCDC1_ENST00000597505.1_Splice_Site	NM_181807.3	NP_861523.2	P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTAAAAATTACCTTTTTCAT	0.333																																						ENST00000597505.1																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31						c.e5+1		doublecortin domain containing 1							39.0	41.0	40.0					11																	31312192		2199	4296	6495	SO:0001630	splice_region_variant	341019				intracellular signal transduction			g.chr11:31312192A>G	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000452803.1:c.960+1T>C	11.37:g.31312192A>G						DCDC1_ENST00000452803.1_Splice_Site				P59894	DCDC1_HUMAN			5	960	-	Lung SC(675;0.225)							A6PVL6|B7WNX6|Q6ZU04	Splice_Site	SNP	ENST00000452803.1	37		CCDS7872.1	.	.	.	.	.	.	.	.	.	.	A	16.62	3.173516	0.57584	.	.	ENSG00000188682	ENST00000452803	.	.	.	5.63	4.51	0.55191	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.261	0.43427	0.9252:0.0:0.0748:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DCDC1	31268768	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	3.709000	0.54853	1.072000	0.40860	0.533000	0.62120	.		0.333	DCDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316531.1	NM_181807	Intron	37	45	0	0	0	1	0	37	45				
HJURP	55355	broad.mit.edu	37	2	234756099	234756099	+	Missense_Mutation	SNP	T	T	C	rs375563604		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:234756099T>C	ENST00000411486.2	-	5	411	c.346A>G	c.(346-348)Agc>Ggc	p.S116G	HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron|HJURP_ENST00000434039.1_5'Flank	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	116					cell cycle (GO:0007049)|CENP-A containing nucleosome assembly (GO:0034080)|chromosome segregation (GO:0007059)|nucleosome assembly (GO:0006334)|regulation of DNA binding (GO:0051101)|regulation of protein complex assembly (GO:0043254)	chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|identical protein binding (GO:0042802)			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTCACCGCTTTTTGAATCT	0.458																																						ENST00000411486.2																			0				NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(346-348)Agc>Ggc		Holliday junction recognition protein							99.0	86.0	90.0					2																	234756099		2203	4300	6503	SO:0001583	missense	55355				cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding	g.chr2:234756099T>C		CCDS33406.1, CCDS63166.1, CCDS63167.1	2q37.1	2007-12-06			ENSG00000123485	ENSG00000123485			25444	protein-coding gene	gene with protein product		612667				17823411	Standard	NM_001282962		Approved	DKFZp762E1312, URLC9, hFLEG1, FAKTS	uc002vvg.3	Q8NCD3	OTTHUMG00000059125	ENST00000411486.2:c.346A>G	2.37:g.234756099T>C	ENSP00000414109:p.Ser116Gly					HJURP_ENST00000441687.1_Intron|HJURP_ENST00000432087.1_Intron	p.S116G	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)	5	411	-		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)	116					A8IRH5|B4DWR0|B4DZV4|Q9BUT2|Q9NSL8	Missense_Mutation	SNP	ENST00000411486.2	37	c.346A>G	CCDS33406.1	.	.	.	.	.	.	.	.	.	.	T	8.400	0.841765	0.16963	.	.	ENSG00000123485	ENST00000411486;ENST00000454020	T;T	0.37058	2.9;1.22	3.13	0.768	0.18487	.	2.269430	0.01606	N	0.022318	T	0.32071	0.0817	L	0.47716	1.5	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.12708	-1.0537	10	0.38643	T	0.18	0.0402	4.6326	0.12509	0.0:0.2908:0.0:0.7092	.	116	Q8NCD3	HJURP_HUMAN	G	116;75	ENSP00000414109:S116G;ENSP00000414051:S75G	ENSP00000414109:S116G	S	-	1	0	HJURP	234420838	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	0.233000	0.17911	0.158000	0.19367	0.528000	0.53228	AGC		0.458	HJURP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130996.6	NM_018410		32	43	0	0	0	1	0	32	43				
DNAH3	55567	broad.mit.edu	37	16	21031081	21031081	+	Missense_Mutation	SNP	C	C	T			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:21031081C>T	ENST00000261383.3	-	41	5886	c.5887G>A	c.(5887-5889)Gtg>Atg	p.V1963M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1963					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCCAGCCACGGTCCACACC	0.488																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(5887-5889)Gtg>Atg		dynein, axonemal, heavy chain 3							124.0	112.0	116.0					16																	21031081		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21031081C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.5887G>A	16.37:g.21031081C>T	ENSP00000261383:p.Val1963Met					DNAH3_ENST00000415178.1_3'UTR	p.V1963M	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	41	5886	-			1963					O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.5887G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	11.36	1.616979	0.28801	.	.	ENSG00000158486	ENST00000261383	T	0.27557	1.66	5.73	3.7	0.42460	.	0.520211	0.18991	N	0.125584	T	0.30166	0.0756	M	0.71871	2.18	0.80722	D	1	D	0.53885	0.963	B	0.42422	0.387	T	0.07501	-1.0769	10	0.44086	T	0.13	.	5.1279	0.14894	0.1414:0.5785:0.0:0.2801	.	1963	Q8TD57	DYH3_HUMAN	M	1963	ENSP00000261383:V1963M	ENSP00000261383:V1963M	V	-	1	0	DNAH3	20938582	0.001000	0.12720	0.216000	0.23742	0.995000	0.86356	-0.131000	0.10482	0.698000	0.31739	0.558000	0.71614	GTG		0.488	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	42	0	0	0	1	0	4	42				
TSGA13	114960	broad.mit.edu	37	7	130364078	130364078	+	Missense_Mutation	SNP	T	T	C			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr7:130364078T>C	ENST00000456951.1	-	6	1153	c.302A>G	c.(301-303)aAc>aGc	p.N101S	TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S			Q96PP4	TSG13_HUMAN	testis specific, 13	101										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGTGGGTTGTTGGTCATAAT	0.438																																						ENST00000456951.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(301-303)aAc>aGc		testis specific, 13							325.0	275.0	292.0					7																	130364078		2203	4300	6503	SO:0001583	missense	114960							g.chr7:130364078T>C	AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.302A>G	7.37:g.130364078T>C	ENSP00000406047:p.Asn101Ser					TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S	p.N101S			Q96PP4	TSG13_HUMAN			6	1153	-	Melanoma(18;0.0435)		101					B3KSC9	Missense_Mutation	SNP	ENST00000456951.1	37	c.302A>G	CCDS5824.1	.	.	.	.	.	.	.	.	.	.	T	17.96	3.516597	0.64634	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588	.	.	.	4.96	4.96	0.65561	.	0.000000	0.52532	D	0.000065	T	0.56920	0.2018	L	0.36672	1.1	0.32547	N	0.532861	D	0.89917	1.0	D	0.83275	0.996	T	0.67051	-0.5768	9	0.87932	D	0	-21.5249	10.9557	0.47356	0.0:0.0:0.0:1.0	.	101	Q96PP4	TSG13_HUMAN	S	101	.	ENSP00000348996:N101S	N	-	2	0	TSGA13	130014618	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	3.667000	0.54547	2.084000	0.62774	0.460000	0.39030	AAC		0.438	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337997.1	NM_052933		42	58	0	0	0	1	0	42	58				
HBB	3043	broad.mit.edu	37	11	5248019	5248019	+	Missense_Mutation	SNP	C	C	A	rs1141387|rs35699671|rs35389895		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5248019C>A	ENST00000335295.4	-	2	152	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F	CoTC_ribozyme_ENST00000408104.1_RNA	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta	35			V -> D (in Santander; unstable). {ECO:0000269|PubMed:12603091}.|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity). {ECO:0000269|PubMed:12908805}.		bicarbonate transport (GO:0015701)|blood coagulation (GO:0007596)|hydrogen peroxide catabolic process (GO:0042744)|nitric oxide transport (GO:0030185)|oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|platelet aggregation (GO:0070527)|positive regulation of cell death (GO:0010942)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|protein heterooligomerization (GO:0051291)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|renal absorption (GO:0070293)|response to hydrogen peroxide (GO:0042542)|small molecule metabolic process (GO:0044281)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|hemoglobin binding (GO:0030492)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAGGGTAGACCACCAGCAGC	0.507									Sickle Cell Trait																													ENST00000335295.3																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15	GRCh37	CM033781|CM800011|HM971912	HBB	M	rs1141387	c.(103-105)Gtc>Ttc		hemoglobin, beta	Iron Dextran(DB00893)						80.0	80.0	80.0					11																	5248019		2201	4298	6499	SO:0001583	missense	3043	Sickle Cell Trait	Familial Cancer Database		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity	g.chr11:5248019C>A	J00173	CCDS7753.1	11p15.5	2014-05-19			ENSG00000244734	ENSG00000244734			4827	protein-coding gene	gene with protein product		141900				2649166	Standard	NM_000518		Approved	CD113t-C, HBD, beta-globin	uc001mae.1	P68871	OTTHUMG00000066678	ENST00000335295.4:c.103G>T	11.37:g.5248019C>A	ENSP00000333994:p.Val35Phe						p.V35F	NM_000518.4	NP_000509.1	P68871	HBB_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	278	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	35		V -> D (in Santander; unstable).|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity).			A4GX73|B2ZUE0|P02023|Q13852|Q14481|Q14510|Q45KT0|Q549N7|Q6FI08|Q6R7N2|Q8IZI1|Q9BX96|Q9UCD6|Q9UCP8|Q9UCP9	Missense_Mutation	SNP	ENST00000335295.4	37	c.103G>T	CCDS7753.1	.	.	.	.	.	.	.	.	.	.	c	20.1	3.939349	0.73557	.	.	ENSG00000244734	ENST00000335295;ENST00000380315	D;D	0.88046	-2.33;-2.33	5.1	5.1	0.69264	Globin-like (1);Globin, structural domain (1);	.	.	.	.	D	0.94591	0.8257	M	0.89840	3.065	0.58432	D	0.999999	D	0.76494	0.999	D	0.75020	0.985	D	0.95236	0.8347	9	0.87932	D	0	-19.5477	17.6123	0.88058	0.0:1.0:0.0:0.0	rs1141387	35	P68871	HBB_HUMAN	F	35	ENSP00000333994:V35F;ENSP00000369671:V35F	ENSP00000333994:V35F	V	-	1	0	HBB	5204595	1.000000	0.71417	0.973000	0.42090	0.735000	0.41995	5.310000	0.65780	2.812000	0.96745	0.555000	0.69702	GTC		0.507	HBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142977.2	NM_000518		21	42	1	0	1.00905e-13	1	1.09808e-13	21	42				
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2		Q8N1L4	CP4Z2_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 2, pseudogene							integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)										AAAAAAAAAAGTTGTTTTAAGAC	0.409																																						ENST00000505841.1																			0																																																			0							g.chr1:47325313_47325315delGTT	AY262057		1p33	2013-07-25	2013-05-03		ENSG00000154198	ENSG00000154198		"""Cytochrome P450s"""	24426	pseudogene	pseudogene						15059886	Standard	NR_002788		Approved	FLJ40054	uc031pmm.1	Q8N1L4	OTTHUMG00000008024		1.37:g.47325316_47325318delGTT								NR_002788.2						0	1204	-								Q66ZJ5	RNA	DEL	ENST00000505841.1	37																																																																																						0.409	CYP4Z2P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361094.1	NR_002788		7	93						7	93	---	---	---	---
HSPD1P6	645548	broad.mit.edu	37	3	36810381	36810381	+	RNA	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:36810381delT	ENST00000424886.1	-	0	405									heat shock 60kDa protein 1 (chaperonin) pseudogene 6																		GAGTGAGGCCttttttttttt	0.542																																						ENST00000424886.1																			0																																																			0							g.chr3:36810381delT			3p22.3	2010-06-25	2002-08-29	2008-09-22	ENSG00000230067	ENSG00000230067			5267	pseudogene	pseudogene			"""heat shock 60kD protein 1 (chaperonin) pseudogene 6"""	HSPDP6			Standard	NG_008828		Approved	HSPD1-6P			OTTHUMG00000155803		3.37:g.36810381delT														0	405	-									RNA	DEL	ENST00000424886.1	37																																																																																						0.542	HSPD1P6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341724.1	XR_017400		2	4						2	4	---	---	---	---
RBPJ	3516	broad.mit.edu	37	4	26426086	26426086	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:26426086delT	ENST00000361572.6	+	6	852	c.658delT	c.(658-660)tttfs	p.F221fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000342320.4_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	221					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCA	0.358																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(616-618)ttfs		recombination signal binding protein for immunoglobulin kappa J region							114.0	119.0	118.0					4																	26426086		2203	4300	6503	SO:0001589	frameshift_variant	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26426086delT	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.658delT	4.37:g.26426086delT	ENSP00000354528:p.Phe221fs					RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs	p.F207fs			Q06330	SUH_HUMAN			6	792	+		Breast(46;0.0503)	221					B4DY22|Q5XKH9|Q6P1N3	Frame_Shift_Del	DEL	ENST00000361572.6	37	c.616delT	CCDS3437.1																																																																																				0.358	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		7	2330						7	2330	---	---	---	---
PDGFRA	5156	broad.mit.edu	37	4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)	ENST00000257290.5				Dom	yes		4	4q11-q13	5156	"""Mis, O, T"""	"""platelet-derived growth factor, alpha-receptor"""			"""L, M, O"""	FIP1L1		"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""		1	Substitution - Missense(1)	p.F808L(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967						c.(2422-2424)ttfs		platelet-derived growth factor receptor, alpha polypeptide	Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)						71.0	69.0	70.0					4																	55151636		2203	4300	6503	SO:0001589	frameshift_variant	5156	Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	g.chr4:55151636delT	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.2422delT	4.37:g.55151636delT	ENSP00000257290:p.Phe808fs	TSP Lung(21;0.16)				FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	p.F808fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		17	2753	+	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		808			Protein kinase.		B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Frame_Shift_Del	DEL	ENST00000257290.5	37	c.2422delT	CCDS3495.1																																																																																				0.418	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250598.2	NM_006206		8	1709						8	1709	---	---	---	---
UBQLN1	29979	broad.mit.edu	37	9	86294709	86294717	+	In_Frame_Del	DEL	TTATTCAAC	TTATTCAAC	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:86294709_86294717delTTATTCAAC	ENST00000376395.4	-	4	1207_1215	c.684_692delGTTGAATAA	c.(682-693)atgttgaataat>att	p.228_231MLNN>I	UBQLN1_ENST00000257468.7_In_Frame_Del_p.228_231MLNN>I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	228					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TATATCTGGATTATTCAACATATGACTAA	0.33																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(682-693)att>at		ubiquilin 1																																				SO:0001651	inframe_deletion	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86294709_86294717delTTATTCAAC	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.684_692delGTTGAATAA	9.37:g.86294709_86294717delTTATTCAAC	ENSP00000365576:p.Met228_Asn231delinsIle					UBQLN1_ENST00000257468.7_In_Frame_Del_p.MLNN228del	p.MLNN228del	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			4	1207_1215	-			228					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	In_Frame_Del	DEL	ENST00000376395.4	37	c.684_692delGTTGAATAA	CCDS6663.1																																																																																				0.330	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		31	51						31	51	---	---	---	---
ARID2	196528	broad.mit.edu	37	12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)agafs	p.R53fs	LINC00938_ENST00000609803.1_lincRNA|ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID. {ECO:0000255|PROSITE- ProRule:PRU00355}.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.53			"""N, S, F"""		hepatocellular carcinoma																																	ENST00000334344.6				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(157-159)afs		AT rich interactive domain 2 (ARID, RFX-like)																																				SO:0001589	frameshift_variant	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46123891_46123892delAG		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.157_158delAG	12.37:g.46123893_46123894delAG	ENSP00000335044:p.Arg53fs					ARID2_ENST00000422737.1_5'UTR	p.R53fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	2	329_330	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	53			ARID.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Frame_Shift_Del	DEL	ENST00000334344.6	37	c.157_158delAG	CCDS31783.1																																																																																				0.530	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		38	71						38	71	---	---	---	---
NUCB1	4924	broad.mit.edu	37	19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del|NUCB1-AS1_ENST00000416432.1_RNA|NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1_ENST00000485798.1_3'UTR	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	407	Poly-Gln.					endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64																																						ENST00000405315.4																			0				cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17						c.(1198-1203)aag>a		nucleobindin 1																																				SO:0001651	inframe_deletion	4924					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	g.chr19:49425109_49425111delAGC	BC002356	CCDS12740.1	19q13.33	2013-01-10			ENSG00000104805	ENSG00000104805		"""EF-hand domain containing"""	8043	protein-coding gene	gene with protein product		601323				8661046	Standard	NM_006184		Approved	NUC, Calnuc	uc002plb.4	Q02818	OTTHUMG00000152514	ENST00000405315.4:c.1199_1201delAGC	19.37:g.49425118_49425120delAGC	ENSP00000385923:p.Gln407del					NUCB1_ENST00000263273.5_In_Frame_Del_p.KQ400del|NUCB1_ENST00000485798.1_3'UTR|NUCB1_ENST00000407032.1_In_Frame_Del_p.KQ400del	p.KQ400del	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)	12	1533_1535	+		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)	400					B2RD64|Q15838|Q7Z4J7|Q9BUR1	In_Frame_Del	DEL	ENST00000405315.4	37	c.1199_1201delAGC	CCDS12740.1																																																																																				0.640	NUCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326545.2	NM_006184		7	40						7	40	---	---	---	---
SIGLEC7	27036	broad.mit.edu	37	19	51658545	51658545	+	IGR	DEL	A	A	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:51658545delA	ENST00000317643.6	+	0	1754				CTD-3187F8.14_ENST00000600074.1_RNA	NM_014385.2	NP_055200.1	Q9Y286	SIGL7_HUMAN	sialic acid binding Ig-like lectin 7						cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(11)|skin(2)|stomach(1)	29		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000836)|OV - Ovarian serous cystadenocarcinoma(262;0.00297)		GGCACTGCCTAGCAGGGCATG	0.607																																						ENST00000600074.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr19:51658545delA	AF170485	CCDS12826.1, CCDS42601.1, CCDS62771.1	19q13.41	2014-03-20			ENSG00000168995	ENSG00000168995		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10876	protein-coding gene	gene with protein product		604410	"""sialic acid binding Ig-like lectin 19, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 2"""	SIGLEC19P, SIGLECP2		10567377	Standard	NM_001277201		Approved	SIGLEC-7, p75/AIRM1, QA79, CD328	uc002pvv.1	Q9Y286	OTTHUMG00000182895		19.37:g.51658545delA														0	674	-								Q9NZQ1|Q9UJ86|Q9UJ87|Q9Y502	RNA	DEL	ENST00000317643.6	37		CCDS12826.1																																																																																				0.607	SIGLEC7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464226.2	NM_016543		2	4						2	4	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76920173	76920173	+	Frame_Shift_Del	DEL	T	T	-			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:76920173delT	ENST00000373344.5	-	11	4118	c.3904delA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTTCCAGTTCTTTTTTTCCCT	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		3	Unknown(1)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	p.R1302fs*7(1)|p.?(1)|p.R1302fs*44(1)	central_nervous_system(2)|bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3904-3906)gafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						196.0	176.0	183.0					X																	76920173		2203	4296	6499	SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76920173delT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3904delA	X.37:g.76920173delT	ENSP00000362441:p.Arg1302fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs	p.R1302fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			11	4118	-			1302					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.3904delA	CCDS14434.1																																																																																				0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		71	90						71	90	---	---	---	---
