#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
PRSS54	221191	broad.mit.edu	37	16	58314536	58314536	+	Silent	SNP	G	G	A	rs367759301		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:58314536G>A	ENST00000219301.4	-	7	1174	c.780C>T	c.(778-780)taC>taT	p.Y260Y	PRSS54_ENST00000567164.1_Silent_p.Y260Y|CCDC113_ENST00000443128.2_3'UTR|PRSS54_ENST00000543437.1_Silent_p.Y161Y|CCDC113_ENST00000219299.4_3'UTR	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	260	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TCCATTTGCTGTAGTCTTCCA	0.547													G|||	1	0.000199681	0.0	0.0	5008	,	,		18386	0.001		0.0	False		,,,				2504	0.0					ENST00000219301.4																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(778-780)taC>taT		protease, serine, 54		G	,,	0,4396		0,0,2198	67.0	67.0	67.0		780,,	2.8	1.0	16		67	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,utr-3,utr-3	CCDC113,PRSS54	NM_001080492.1,NM_001142302.1,NM_014157.3	,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	,,	260/396,,	58314536	1,12995	2198	4300	6498	SO:0001819	synonymous_variant	221191				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr16:58314536G>A	AK058068	CCDS32463.1	16q21	2010-05-07			ENSG00000103023	ENSG00000103023		"""Serine peptidases / Serine peptidases"""	26336	protein-coding gene	gene with protein product	"""cancer/testis antigen 67"""					17521433	Standard	NM_001080492		Approved	FLJ25339, KLKBL4, CT67	uc002enf.3	Q6PEW0		ENST00000219301.4:c.780C>T	16.37:g.58314536G>A						CCDC113_ENST00000219299.4_3'UTR|PRSS54_ENST00000543437.1_Silent_p.Y161Y|PRSS54_ENST00000567164.1_Silent_p.Y260Y|CCDC113_ENST00000443128.2_3'UTR	p.Y260Y	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN			7	1174	-			260			Peptidase S1.		Q96LN9|Q9NT77	Silent	SNP	ENST00000219301.4	37	c.780C>T	CCDS32463.1																																																																																				0.547	PRSS54-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422556.1	NM_001080492		15	11	0	0	0	1	0	15	11				
MMACHC	25974	broad.mit.edu	37	1	45973941	45973941	+	Missense_Mutation	SNP	C	C	T	rs187869948	byFrequency	TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:45973941C>T	ENST00000401061.4	+	3	614	c.334C>T	c.(334-336)Cgc>Tgc	p.R112C		NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	112					cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	cobalamin binding (GO:0031419)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8	Acute lymphoblastic leukemia(166;0.155)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCCCAACCGACGCCCCAAGAT	0.567													C|||	2	0.000399361	0.0	0.0	5008	,	,		21145	0.002		0.0	False		,,,				2504	0.0					ENST00000401061.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8						c.(334-336)Cgc>Tgc		methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						75.0	76.0	76.0					1																	45973941		1946	4134	6080	SO:0001583	missense	25974						cobalamin binding	g.chr1:45973941C>T		CCDS41324.1	1p34.1	2011-05-12			ENSG00000132763	ENSG00000132763			24525	protein-coding gene	gene with protein product		609831				16311595	Standard	NM_015506		Approved	DKFZP564I122, cblC	uc009vxv.3	Q9Y4U1	OTTHUMG00000007742	ENST00000401061.4:c.334C>T	1.37:g.45973941C>T	ENSP00000383840:p.Arg112Cys						p.R112C	NM_015506.2	NP_056321.2	Q9Y4U1	MMAC_HUMAN			3	614	+	Acute lymphoblastic leukemia(166;0.155)		112					Q5T157|Q9BRQ7	Missense_Mutation	SNP	ENST00000401061.4	37	c.334C>T	CCDS41324.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	C	17.80	3.478139	0.63849	.	.	ENSG00000132763	ENST00000401061	D	0.97688	-4.49	5.67	5.67	0.87782	.	0.098103	0.64402	D	0.000003	D	0.98557	0.9518	M	0.79926	2.475	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99123	1.0850	10	0.87932	D	0	-12.8481	14.2365	0.65929	0.1867:0.8133:0.0:0.0	.	112	Q9Y4U1	MMAC_HUMAN	C	112	ENSP00000383840:R112C	ENSP00000383840:R112C	R	+	1	0	MMACHC	45746528	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.853000	0.62911	2.689000	0.91719	0.462000	0.41574	CGC		0.567	MMACHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020864.2	NM_015506		6	42	0	0	0	1	0	6	42				
KIF25	3834	broad.mit.edu	37	6	168440860	168440860	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:168440860G>A	ENST00000443060.2	+	7	1001	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	KIF25_ENST00000354419.2_Missense_Mutation_p.V204M|KIF25_ENST00000351261.3_Missense_Mutation_p.V204M			Q9UIL4	KIF25_HUMAN	kinesin family member 25	204	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GATAATTACGGTGACTCTAAC	0.507																																						ENST00000443060.2																			0				NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(610-612)Gtg>Atg		kinesin family member 25							73.0	62.0	66.0					6																	168440860		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168440860G>A	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.610G>A	6.37:g.168440860G>A	ENSP00000388878:p.Val204Met					KIF25_ENST00000354419.2_Missense_Mutation_p.V204M|KIF25_ENST00000351261.3_Missense_Mutation_p.V204M	p.V204M			Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	7	1001	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	204			Kinesin-motor.		O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.610G>A	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922712	0.33908	.	.	ENSG00000125337	ENST00000443060;ENST00000354419;ENST00000351261	T;T;T	0.77098	-1.07;-1.07;-1.07	4.09	0.844	0.18943	Kinesin, motor domain (5);	1.000060	0.08071	N	0.999875	T	0.69441	0.3111	L	0.38531	1.155	0.09310	N	1	P;D	0.69078	0.858;0.997	P;D	0.66196	0.491;0.942	T	0.57510	-0.7799	10	0.87932	D	0	-24.803	5.748	0.18130	0.1153:0.3822:0.5026:0.0	.	204;204	Q9UIL4-2;Q9UIL4	.;KIF25_HUMAN	M	204	ENSP00000388878:V204M;ENSP00000346401:V204M;ENSP00000252688:V204M	ENSP00000252688:V204M	V	+	1	0	KIF25	168183709	0.019000	0.18553	0.001000	0.08648	0.015000	0.08874	0.049000	0.14099	0.673000	0.31224	0.411000	0.27672	GTG		0.507	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			11	18	0	0	0	1	0	11	18				
SEC22A	26984	broad.mit.edu	37	3	122990559	122990559	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122990559A>C	ENST00000309934.4	+	6	1810	c.914A>C	c.(913-915)tAt>tCt	p.Y305S	SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S|SEC22A_ENST00000481965.2_3'UTR	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)	305					ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		GCTCCCGATTATGATGTCTGA	0.493																																						ENST00000309934.4																			0				NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10						c.(913-915)tAt>tCt		SEC22 vesicle trafficking protein homolog A (S. cerevisiae)							62.0	55.0	57.0					3																	122990559		2203	4300	6503	SO:0001583	missense	26984				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity	g.chr3:122990559A>C	AF100749	CCDS3021.1	3q21.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000121542	ENSG00000121542			20260	protein-coding gene	gene with protein product		612442	"""SEC22 vesicle trafficking protein-like 2 (S. cerevisiae)"""	SEC22L2		9094723, 9501016	Standard	NM_012430		Approved		uc003ege.3	Q96IW7	OTTHUMG00000159495	ENST00000309934.4:c.914A>C	3.37:g.122990559A>C	ENSP00000310521:p.Tyr305Ser					SEC22A_ENST00000481965.2_3'UTR|SEC22A_ENST00000492595.1_Missense_Mutation_p.Y305S	p.Y305S	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN		GBM - Glioblastoma multiforme(114;0.0548)	6	1810	+			305					B2RE26|Q9Y682	Missense_Mutation	SNP	ENST00000309934.4	37	c.914A>C	CCDS3021.1	.	.	.	.	.	.	.	.	.	.	A	19.50	3.839629	0.71488	.	.	ENSG00000121542	ENST00000492595;ENST00000309934	T;T	0.22539	1.95;1.95	5.84	5.84	0.93424	.	0.058484	0.64402	D	0.000001	T	0.28499	0.0705	M	0.77616	2.38	0.58432	D	0.999998	P	0.36065	0.535	B	0.34722	0.188	T	0.05273	-1.0895	10	0.27082	T	0.32	0.2936	16.2123	0.82170	1.0:0.0:0.0:0.0	.	305	Q96IW7	SC22A_HUMAN	S	305	ENSP00000417972:Y305S;ENSP00000310521:Y305S	ENSP00000310521:Y305S	Y	+	2	0	SEC22A	124473249	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	8.962000	0.93254	2.231000	0.72958	0.455000	0.32223	TAT		0.493	SEC22A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355770.2	NM_012430		14	22	0	0	0	1	0	14	22				
GPR110	266977	broad.mit.edu	37	6	46973590	46973590	+	Silent	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:46973590C>T	ENST00000371253.2	-	13	2771	c.2556G>A	c.(2554-2556)aaG>aaA	p.K852K	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	852					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGCAGACAACTTGTTGAACA	0.373																																						ENST00000371253.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						c.(2554-2556)aaG>aaA		G protein-coupled receptor 110							79.0	64.0	69.0					6																	46973590		2203	4300	6503	SO:0001819	synonymous_variant	266977				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46973590C>T	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.2556G>A	6.37:g.46973590C>T						GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Silent_p.K655K	p.K852K	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN			13	2771	-			852					Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Silent	SNP	ENST00000371253.2	37	c.2556G>A	CCDS34471.1																																																																																				0.373	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040810.2	NM_153840		15	20	0	0	0	1	0	15	20				
VPS37B	79720	broad.mit.edu	37	12	123351949	123351949	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr12:123351949T>G	ENST00000267202.2	-	4	953	c.572A>C	c.(571-573)tAc>tCc	p.Y191S	RP11-463O12.3_ENST00000537827.2_lincRNA	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN	vacuolar protein sorting 37 homolog B (S. cerevisiae)	191	Pro-rich.				endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|midbody (GO:0030496)		p.Y191S(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)		TGGGGCAGGGTAGGGAAGGGG	0.706																																						ENST00000267202.2																			2	Substitution - Missense(2)	p.Y191S(2)	central_nervous_system(1)|skin(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|skin(1)|urinary_tract(1)	5						c.(571-573)tAc>tCc		vacuolar protein sorting 37 homolog B (S. cerevisiae)																																				SO:0001583	missense	79720				cellular membrane organization|endosome transport|protein transport	late endosome membrane		g.chr12:123351949T>G	AK022812	CCDS9239.1	12q24.31	2008-02-05	2006-04-04		ENSG00000139722	ENSG00000139722			25754	protein-coding gene	gene with protein product		610037	"""vacuolar protein sorting 37B (yeast)"""			15218037	Standard	NM_024667		Approved	FLJ12750	uc001udl.3	Q9H9H4	OTTHUMG00000168767	ENST00000267202.2:c.572A>C	12.37:g.123351949T>G	ENSP00000267202:p.Tyr191Ser						p.Y191S	NM_024667.2	NP_078943.1	Q9H9H4	VP37B_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.08e-05)|Epithelial(86;0.000197)|BRCA - Breast invasive adenocarcinoma(302;0.205)	4	953	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		191			Pro-rich.			Missense_Mutation	SNP	ENST00000267202.2	37	c.572A>C	CCDS9239.1	.	.	.	.	.	.	.	.	.	.	T	12.16	1.853426	0.32791	.	.	ENSG00000139722	ENST00000267202;ENST00000535765	T;T	0.58210	0.36;0.35	5.03	3.89	0.44902	.	0.628472	0.17365	N	0.176868	T	0.50377	0.1612	M	0.73598	2.24	0.43512	D	0.995779	B	0.18461	0.028	B	0.16289	0.015	T	0.41016	-0.9532	10	0.29301	T	0.29	-5.0922	9.6845	0.40089	0.0:0.0824:0.0:0.9176	.	191	Q9H9H4	VP37B_HUMAN	S	191;189	ENSP00000267202:Y191S;ENSP00000446075:Y189S	ENSP00000267202:Y191S	Y	-	2	0	VPS37B	121917902	1.000000	0.71417	0.990000	0.47175	0.125000	0.20455	2.647000	0.46639	0.758000	0.33059	0.533000	0.62120	TAC		0.706	VPS37B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400946.1	NM_024667		7	33	0	0	0	1	0	7	33				
NLRP1	22861	broad.mit.edu	37	17	5462409	5462409	+	Missense_Mutation	SNP	C	C	T	rs138756363		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:5462409C>T	ENST00000572272.1	-	4	1606	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	NLRP1_ENST00000354411.3_Missense_Mutation_p.R536Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536Q|NLRP1_ENST00000262467.5_Missense_Mutation_p.R536Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536Q|NLRP1_ENST00000345221.3_Missense_Mutation_p.R536Q			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTTCCTTCCGCTTCATCTG	0.547													c|||	1	0.000199681	0.0	0.0	5008	,	,		17225	0.001		0.0	False		,,,				2504	0.0					ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1606-1608)cGg>cAg		NLR family, pyrin domain containing 1		T	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	127.0	106.0	113.0		1607,1607,1607,1607,1607	-8.8	0.0	17	dbSNP_134	113	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	NLRP1	NM_001033053.2,NM_014922.4,NM_033004.3,NM_033006.3,NM_033007.3	43,43,43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	benign,benign,benign,benign,benign	536/1376,536/1430,536/1474,536/1444,536/1400	5462409	2,13004	2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462409C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1607G>A	17.37:g.5462409C>T	ENSP00000460475:p.Arg536Gln					NLRP1_ENST00000262467.5_Missense_Mutation_p.R536Q|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536Q|NLRP1_ENST00000572272.1_Missense_Mutation_p.R536Q|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536Q|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536Q	p.R536Q	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2161	-		Colorectal(1115;3.48e-05)	536			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.1607G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	c	0.237	-1.016225	0.02078	4.54E-4	0.0	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T;T	0.69806	-0.43;-0.43;-0.42;-0.41;-0.42	4.38	-8.76	0.00830	NACHT nucleoside triphosphatase (1);	2.205680	0.02159	N	0.058626	T	0.42787	0.1218	N	0.17082	0.46	0.09310	N	1	B;B;B;B;B	0.17667	0.023;0.023;0.014;0.023;0.014	B;B;B;B;B	0.10450	0.005;0.005;0.002;0.005;0.003	T	0.48246	-0.9052	10	0.05721	T	0.95	.	10.3012	0.43653	0.0:0.1425:0.2094:0.6482	.	536;536;536;536;536	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	Q	536	ENSP00000442029:R536Q;ENSP00000262467:R536Q;ENSP00000269280:R536Q;ENSP00000346390:R536Q;ENSP00000324366:R536Q	ENSP00000262467:R536Q	R	-	2	0	NLRP1	5403133	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-3.770000	0.00371	-2.901000	0.00312	-1.768000	0.00664	CGG		0.547	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		42	31	0	0	0	1	0	42	31				
POTEG	404785	broad.mit.edu	37	14	19553754	19553754	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:19553754G>A	ENST00000409832.3	+	1	390	c.338G>A	c.(337-339)gGc>gAc	p.G113D		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	113										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGGGGGAGCGGCAAGAGCAAA	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(337-339)gGc>gAc		POTE ankyrin domain family, member G							348.0	379.0	369.0					14																	19553754		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553754G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.338G>A	14.37:g.19553754G>A	ENSP00000386971:p.Gly113Asp						p.G113D	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	390	+			113					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.338G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	6.591	0.477486	0.12521	.	.	ENSG00000222036	ENST00000409832	T	0.28895	1.59	0.604	0.604	0.17547	.	.	.	.	.	T	0.30727	0.0774	L	0.58101	1.795	0.09310	N	1	P	0.43938	0.822	B	0.43575	0.424	T	0.16867	-1.0388	8	0.59425	D	0.04	.	.	.	.	.	113	Q6S5H5	POTEG_HUMAN	D	113	ENSP00000386971:G113D	ENSP00000386971:G113D	G	+	2	0	POTEG	18623754	0.001000	0.12720	0.002000	0.10522	0.007000	0.05969	0.607000	0.24209	0.571000	0.29365	0.416000	0.27883	GGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		5	609	0	0	0	1	0	5	609				
RPTN	126638	broad.mit.edu	37	1	152128186	152128186	+	Silent	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:152128186A>G	ENST00000316073.3	-	3	1453	c.1389T>C	c.(1387-1389)taT>taC	p.Y463Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	463	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CTGTCTGACCATAGTGGGAAC	0.512																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1387-1389)taT>taC		repetin							788.0	697.0	725.0					1																	152128186		1568	3582	5150	SO:0001819	synonymous_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128186A>G	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1389T>C	1.37:g.152128186A>G							p.Y463Y	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1453	-			463			Gln-rich.		B7ZBZ3	Silent	SNP	ENST00000316073.3	37	c.1389T>C	CCDS41397.1																																																																																				0.512	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		6	740	0	0	0	1	0	6	740				
USP9X	8239	broad.mit.edu	37	X	41082490	41082490	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chrX:41082490C>T	ENST00000324545.8	+	39	7219	c.6586C>T	c.(6586-6588)Ctt>Ttt	p.L2196F	USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2196					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GAAGACACAGCTTCTGAAATT	0.398																																					Ovarian(172;1807 2695 35459 49286)	ENST00000324545.7																			0				NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						c.(6586-6588)Ctt>Ttt		ubiquitin specific peptidase 9, X-linked							130.0	118.0	122.0					X																	41082490		2196	4300	6496	SO:0001583	missense	8239				BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity	g.chrX:41082490C>T	X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.6586C>T	X.37:g.41082490C>T	ENSP00000316357:p.Leu2196Phe					USP9X_ENST00000378308.2_Missense_Mutation_p.L2196F	p.L2196F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN			39	7219	+			2196					O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	ENST00000324545.8	37	c.6586C>T	CCDS43930.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.931674	0.92389	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.32988	1.43;1.43	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.80746	2.51	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65191	-0.6228	10	0.66056	D	0.02	.	18.483	0.90819	0.0:1.0:0.0:0.0	.	2196;2196	Q93008-1;Q93008	.;USP9X_HUMAN	F	2196	ENSP00000367558:L2196F;ENSP00000316357:L2196F	ENSP00000316357:L2196F	L	+	1	0	USP9X	40967434	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.629000	0.61290	2.307000	0.77673	0.594000	0.82650	CTT		0.398	USP9X-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056250.4	NM_004652		34	5	0	0	0	1	0	34	5				
TBX15	6913	broad.mit.edu	37	1	119428032	119428032	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:119428032C>G	ENST00000369429.3	-	8	1141	c.1132G>C	c.(1132-1134)Gcc>Ccc	p.A378P	TBX15_ENST00000207157.3_Missense_Mutation_p.A272P			Q96SF7	TBX15_HUMAN	T-box 15	378					embryonic cranial skeleton morphogenesis (GO:0048701)	Tle3-Aes complex (GO:0070722)	RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GTGTTGGGGGCCAGATGAAAA	0.522																																						ENST00000369429.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37						c.(1132-1134)Gcc>Ccc		T-box 15							38.0	43.0	41.0					1																	119428032		2203	4300	6503	SO:0001583	missense	6913					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:119428032C>G	AK127536	CCDS30816.1	1p11.1	2008-02-05	2004-10-05		ENSG00000092607	ENSG00000092607		"""T-boxes"""	11594	protein-coding gene	gene with protein product		604127	"""T-box 14"""	TBX14		9693034	Standard	XM_005271162		Approved		uc001ehl.1	Q96SF7	OTTHUMG00000012263	ENST00000369429.3:c.1132G>C	1.37:g.119428032C>G	ENSP00000358437:p.Ala378Pro					TBX15_ENST00000207157.3_Missense_Mutation_p.A272P	p.A378P			Q96SF7	TBX15_HUMAN		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)	8	1141	-	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)	378					Q08E76|Q5JT54|Q5T9S7	Missense_Mutation	SNP	ENST00000369429.3	37	c.1132G>C		.	.	.	.	.	.	.	.	.	.	C	3.616	-0.078516	0.07184	.	.	ENSG00000092607	ENST00000344218;ENST00000207157;ENST00000369429;ENST00000449873;ENST00000393149	T;T;T	0.73469	-0.75;-0.75;-0.75	5.67	5.67	0.87782	.	0.060715	0.64402	D	0.000004	T	0.36303	0.0962	N	0.13235	0.315	0.47183	D	0.999348	B;B	0.12630	0.006;0.001	B;B	0.11329	0.006;0.004	T	0.32851	-0.9891	10	0.10636	T	0.68	.	9.5506	0.39308	0.0:0.7824:0.1436:0.074	.	175;378	E9PCG3;Q96SF7	.;TBX15_HUMAN	P	175;272;378;106;105	ENSP00000207157:A272P;ENSP00000358437:A378P;ENSP00000398625:A106P	ENSP00000207157:A272P	A	-	1	0	TBX15	119229555	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.547000	0.60712	2.686000	0.91538	0.561000	0.74099	GCC		0.522	TBX15-002	PUTATIVE	not_organism_supported|upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000034351.1	NM_152380		6	32	0	0	0	1	0	6	32				
SMYD2	56950	broad.mit.edu	37	1	214491465	214491465	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:214491465T>C	ENST00000366957.5	+	4	414	c.392T>C	c.(391-393)gTg>gCg	p.V131A	SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A|SMYD2_ENST00000491455.1_3'UTR	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN	SET and MYND domain containing 2	131	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)|regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043516)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (H3-K36 specific) (GO:0046975)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|RNA polymerase II core binding (GO:0000993)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		TTGTTAGCTGTGAAGGAGTTT	0.448																																						ENST00000366957.5																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(391-393)gTg>gCg		SET and MYND domain containing 2							106.0	110.0	108.0					1																	214491465		2203	4300	6503	SO:0001583	missense	56950				negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding	g.chr1:214491465T>C	AF226053	CCDS31022.1	1q32.3	2011-07-01			ENSG00000143499	ENSG00000143499		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	20982	protein-coding gene	gene with protein product		610663					Standard	NM_020197		Approved	HSKM-B, ZMYND14, KMT3C	uc021pix.1	Q9NRG4	OTTHUMG00000037066	ENST00000366957.5:c.392T>C	1.37:g.214491465T>C	ENSP00000355924:p.Val131Ala					SMYD2_ENST00000415093.2_Missense_Mutation_p.V131A|SMYD2_ENST00000491455.1_3'UTR	p.V131A	NM_020197.2	NP_064582.2	Q9NRG4	SMYD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)	4	414	+			131			SET.		B2R9P9|I6L9H7|Q4V765|Q5VSH9|Q96AI4	Missense_Mutation	SNP	ENST00000366957.5	37	c.392T>C	CCDS31022.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.423922	0.83667	.	.	ENSG00000143499	ENST00000366957;ENST00000415093	T;T	0.14640	2.49;2.49	5.62	5.62	0.85841	SET domain (2);	0.263700	0.38492	N	0.001674	T	0.26195	0.0639	L	0.39147	1.195	0.58432	D	0.999992	D;P	0.56968	0.978;0.94	P;P	0.62560	0.904;0.836	T	0.00883	-1.1528	10	0.31617	T	0.26	-1.5315	15.8248	0.78690	0.0:0.0:0.0:1.0	.	131;115	Q9NRG4;Q05C86	SMYD2_HUMAN;.	A	131	ENSP00000355924:V131A;ENSP00000388682:V131A	ENSP00000355924:V131A	V	+	2	0	SMYD2	212558088	1.000000	0.71417	0.998000	0.56505	0.933000	0.57130	6.987000	0.76206	2.140000	0.66376	0.459000	0.35465	GTG		0.448	SMYD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089998.1	NM_020197		31	52	0	0	0	1	0	31	52				
LOC101927905	101927905	broad.mit.edu	37	12	8386955	8386955	+	lincRNA	SNP	T	T	C	rs75997195	byFrequency	TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr12:8386955T>C	ENST00000304751.9	+	0	0				FAM86FP_ENST00000427893.2_RNA																							CTTGTGCTCCTGGCAGGCAGC	0.612													.|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000427893.2																			0																																																			0							g.chr12:8386955T>C																													12.37:g.8386955T>C														0	811	-									RNA	SNP	ENST00000304751.9	37																																																																																						0.612	RP11-266K4.9-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000400464.1			6	93	0	0	0	1	0	6	93				
GRIA1	2890	broad.mit.edu	37	5	153190675	153190675	+	Missense_Mutation	SNP	G	G	A	rs139089198		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr5:153190675G>A	ENST00000285900.5	+	16	2954	c.2611G>A	c.(2611-2613)Ggc>Agc	p.G871S	GRIA1_ENST00000518142.1_Missense_Mutation_p.G791S|GRIA1_ENST00000521843.2_Missense_Mutation_p.G802S|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881S|GRIA1_ENST00000340592.5_Missense_Mutation_p.G871S|GRIA1_ENST00000518783.1_Missense_Mutation_p.G881S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	871					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	CAGCAGCGGCGGCAGTGGAGA	0.577																																						ENST00000285900.5																			0				NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81						c.(2611-2613)Ggc>Agc		glutamate receptor, ionotropic, AMPA 1	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	G	SER/GLY,SER/GLY	0,4406		0,0,2203	47.0	50.0	49.0		2611,2611	3.8	1.0	5	dbSNP_134	49	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	GRIA1	NM_000827.3,NM_001114183.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	871/907,871/907	153190675	1,13005	2203	4300	6503	SO:0001583	missense	0				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	g.chr5:153190675G>A		CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2611G>A	5.37:g.153190675G>A	ENSP00000285900:p.Gly871Ser					GRIA1_ENST00000521843.2_Missense_Mutation_p.G802S|GRIA1_ENST00000340592.5_Missense_Mutation_p.G871S|GRIA1_ENST00000448073.4_Missense_Mutation_p.G881S|GRIA1_ENST00000518783.1_Missense_Mutation_p.G881S|GRIA1_ENST00000518142.1_Missense_Mutation_p.G791S	p.G871S	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		16	2954	+		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	871					B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	ENST00000285900.5	37	c.2611G>A	CCDS4322.1	.	.	.	.	.	.	.	.	.	.	G	4.520	0.096549	0.08681	0.0	1.16E-4	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.10960	2.88;2.82;2.87;2.82;2.82;2.88;2.87	3.78	3.78	0.43462	.	0.097829	0.64402	D	0.000001	T	0.06781	0.0173	N	0.01009	-1.055	0.42305	D	0.992196	B;B;B;D;B	0.71674	0.016;0.016;0.006;0.998;0.0	B;B;B;D;B	0.65443	0.002;0.002;0.001;0.935;0.002	T	0.38394	-0.9663	10	0.02654	T	1	.	11.4288	0.50027	0.0:0.0:1.0:0.0	.	881;881;791;871;871	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	S	871;871;791;871;804;802;881;881	ENSP00000285900:G871S;ENSP00000427920:G791S;ENSP00000339343:G871S;ENSP00000427864:G804S;ENSP00000442108:G802S;ENSP00000428994:G881S;ENSP00000415569:G881S	ENSP00000285900:G871S	G	+	1	0	GRIA1	153170868	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	3.019000	0.49635	2.399000	0.81585	0.655000	0.94253	GGC		0.577	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252456.3			4	68	0	0	0	1	0	4	68				
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs371238897		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547																																						ENST00000395215.3																			2	Substitution - Missense(2)	p.S190L(2)	endometrium(2)																																																0							g.chr15:76074431C>T																													15.37:g.76074431C>T														0	610	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.205	-0.162863	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.29850	0.0746	.	.	.	.	.	.	B	0.20550	0.046	B	0.15870	0.014	T	0.30208	-0.9986	6	0.27082	T	0.32	.	7.4893	0.27452	0.0:0.9999:0.0:1.0E-4	.	190	B4DZE6	.	L	190	.	ENSP00000378641:S190L	S	+	2	0	AC019294.2	73861486	0.987000	0.35691	0.013000	0.15412	0.024000	0.10985	3.310000	0.51911	0.745000	0.32763	0.274000	0.19336	TCG		0.547	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			5	36	0	0	0	1	0	5	36				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			3	45	0	0	0	1	0	3	45				
TXNDC11	51061	broad.mit.edu	37	16	11785821	11785821	+	Missense_Mutation	SNP	G	G	A	rs554000148		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:11785821G>A	ENST00000356957.3	-	9	1413	c.1306C>T	c.(1306-1308)Ccg>Tcg	p.P436S	TXNDC11_ENST00000570917.1_5'Flank|TXNDC11_ENST00000283033.5_Missense_Mutation_p.P409S			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	436					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGCTGTGCCGGCACTTCCAGG	0.642																																						ENST00000356957.3																			0				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1306-1308)Ccg>Tcg		thioredoxin domain containing 11							35.0	35.0	35.0					16																	11785821		2197	4299	6496	SO:0001583	missense	51061				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane		g.chr16:11785821G>A	BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.1306C>T	16.37:g.11785821G>A	ENSP00000349439:p.Pro436Ser					TXNDC11_ENST00000283033.5_Missense_Mutation_p.P409S	p.P436S			Q6PKC3	TXD11_HUMAN			9	1413	-			436					O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37	c.1306C>T		.	.	.	.	.	.	.	.	.	.	G	0.569	-0.841973	0.02671	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.39997	1.05;1.05	5.39	5.39	0.77823	.	0.680316	0.14863	N	0.293947	T	0.38983	0.1061	M	0.62723	1.935	0.09310	N	1	B;P	0.42692	0.304;0.787	B;B	0.36666	0.036;0.23	T	0.42172	-0.9467	10	0.10377	T	0.69	-13.7352	16.303	0.82832	0.0:0.0:1.0:0.0	.	436;409	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	S	436;409	ENSP00000349439:P436S;ENSP00000283033:P409S	ENSP00000283033:P409S	P	-	1	0	TXNDC11	11693322	0.450000	0.25697	0.005000	0.12908	0.020000	0.10135	4.330000	0.59266	2.509000	0.84616	0.561000	0.74099	CCG		0.642	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1	NM_015914		3	31	0	0	0	1	0	3	31				
KRT28	162605	broad.mit.edu	37	17	38956166	38956166	+	De_novo_Start_InFrame	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:38956166C>T	ENST00000306658.7	-	0	45					NM_181535.3	NP_853513.2			keratin 28											NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GAAATGTTCACCTTGTCTATG	0.398																																					Melanoma(19;789 869 15380 26882 39836)	ENST00000306658.7																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30								keratin 28							46.0	49.0	48.0					17																	38956166		2203	4300	6503			162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38956166C>T	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365		17.37:g.38956166C>T								NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN			0	45	-		Breast(137;0.000301)							Translation_Start_Site	SNP	ENST00000306658.7	37		CCDS11376.1																																																																																				0.398	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		12	15	0	0	0	1	0	12	15				
CLSTN1	22883	broad.mit.edu	37	1	9804060	9804060	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:9804060A>T	ENST00000377298.4	-	9	2030	c.1238T>A	c.(1237-1239)aTg>aAg	p.M413K	CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K|CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	413					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTGCCGATTCATATCTGCAAA	0.438																																						ENST00000377298.4																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						c.(1237-1239)aTg>aAg		calsyntenin 1							88.0	95.0	93.0					1																	9804060		2203	4300	6503	SO:0001583	missense	22883				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding	g.chr1:9804060A>T	AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.1238T>A	1.37:g.9804060A>T	ENSP00000366513:p.Met413Lys					CLSTN1_ENST00000361311.4_Missense_Mutation_p.M403K|CLSTN1_ENST00000377288.3_Missense_Mutation_p.M413K	p.M413K	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)	9	2030	-	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	413					A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Missense_Mutation	SNP	ENST00000377298.4	37	c.1238T>A	CCDS30580.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.009951	0.75046	.	.	ENSG00000171603	ENST00000377298;ENST00000361311;ENST00000435891;ENST00000377288;ENST00000539822	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.66	4.51	0.55191	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.037233	0.85682	D	0.000000	T	0.08537	0.0212	M	0.69248	2.105	0.80722	D	1	D;D;D	0.61080	0.989;0.986;0.989	P;P;P	0.58721	0.844;0.758;0.844	T	0.03221	-1.1059	10	0.51188	T	0.08	-46.8057	13.0661	0.59034	0.8657:0.1343:0.0:0.0	.	413;403;413	B4E3Q1;O94985-2;O94985	.;.;CSTN1_HUMAN	K	413;403;233;413;413	ENSP00000366513:M413K;ENSP00000354997:M403K;ENSP00000401934:M233K;ENSP00000366502:M413K	ENSP00000354997:M403K	M	-	2	0	CLSTN1	9726647	1.000000	0.71417	0.992000	0.48379	0.675000	0.39556	6.212000	0.72188	1.039000	0.40074	0.533000	0.62120	ATG		0.438	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000004239.1			24	33	0	0	0	1	0	24	33				
LOC101927209	101927209	broad.mit.edu	37	1	142713773	142713773	+	lincRNA	SNP	C	C	G	rs199933143		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:142713773C>G	ENST00000610091.1	-	0	1885																											TCTTTTTCCACATTGTCATTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713773C>G																													1.37:g.142713773C>G														0	832	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	49	0	0	0	1	0	5	49				
TRBV6-1	28606	broad.mit.edu	37	7	142028602	142028602	+	RNA	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:142028602C>G	ENST00000390353.2	+	0	393									T cell receptor beta variable 6-1																		TCTGTGCCAGCAGTGAAGCCA	0.587																																						ENST00000390353.2																			0																				93.0	99.0	97.0					7																	142028602		2029	4192	6221			0							g.chr7:142028602C>G	X61446		7q34	2012-02-07			ENSG00000211706	ENSG00000211706		"""T cell receptors / TRB locus"""	12226	other	T cell receptor gene	"""T-cell receptor beta chain V region C5 -like"""					8650574	Standard	NG_001333		Approved	TRBV61, TCRBV13S3, TCRBV6S1			OTTHUMG00000158531		7.37:g.142028602C>G														0	393	+									RNA	SNP	ENST00000390353.2	37																																																																																						0.587	TRBV6-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351237.1	NG_001333		40	65	0	0	0	1	0	40	65				
ADPRM	56985	broad.mit.edu	37	17	10614356	10614356	+	Silent	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:10614356C>G	ENST00000379774.4	+	4	1015	c.924C>G	c.(922-924)gcC>gcG	p.A308A	ADPRM_ENST00000609540.1_3'UTR	NM_020233.4	NP_064618.3	Q3LIE5	ADPRM_HUMAN	ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent	308							ADP-ribose diphosphatase activity (GO:0047631)|CDP-glycerol diphosphatase activity (GO:0047734)|metal ion binding (GO:0046872)										ACAGCCAAGCCTTTGGCACAG	0.438																																						ENST00000379774.4																			0											c.(922-924)gcC>gcG		ADP-ribose/CDP-alcohol diphosphatase, manganese-dependent							129.0	120.0	123.0					17																	10614356		2203	4300	6503	SO:0001819	synonymous_variant	56985							g.chr17:10614356C>G	BC070155	CCDS11159.2	17p13.1	2012-07-20	2012-07-20	2012-07-20	ENSG00000170222	ENSG00000170222	3.6.1.13, 3.6.1.16, 3.6.1.53		30925	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 48"""	C17orf48		18352857	Standard	XM_005256738		Approved	MDS006	uc002gmt.3	Q3LIE5	OTTHUMG00000130366	ENST00000379774.4:c.924C>G	17.37:g.10614356C>G							p.A308A	NM_020233.4	NP_064618.3					4	1015	+								A8K9B4|D3DTS4|Q9BVD4|Q9NRU8	Silent	SNP	ENST00000379774.4	37	c.924C>G	CCDS11159.2																																																																																				0.438	ADPRM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252732.2	NM_020233		25	20	0	0	0	1	0	25	20				
RBL2	5934	broad.mit.edu	37	16	53487463	53487463	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr16:53487463A>G	ENST00000262133.6	+	6	1003	c.866A>G	c.(865-867)gAa>gGa	p.E289G	RBL2_ENST00000544545.1_Missense_Mutation_p.E73G|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	289					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTAGTTTTGGAAGCAAAGGGG	0.358																																						ENST00000262133.6																			0				breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(865-867)gAa>gGa		retinoblastoma-like 2 (p130)							112.0	114.0	114.0					16																	53487463		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53487463A>G	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.866A>G	16.37:g.53487463A>G	ENSP00000262133:p.Glu289Gly					RBL2_ENST00000544545.1_Missense_Mutation_p.E73G|RBL2_ENST00000379935.4_3'UTR	p.E289G	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN			6	1003	+			289					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.866A>G	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.449887	0.63290	.	.	ENSG00000103479	ENST00000262133;ENST00000544405;ENST00000544545	D;D;D	0.91945	-2.94;-2.71;-2.27	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.96172	0.8752	M	0.85462	2.755	0.58432	D	0.999998	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.97110	0.991;1.0;0.994	D	0.96843	0.9619	10	0.87932	D	0	-16.3863	14.5267	0.67894	1.0:0.0:0.0:0.0	.	73;289;289	B7Z913;Q8NE70;Q08999	.;.;RBL2_HUMAN	G	289;215;73	ENSP00000262133:E289G;ENSP00000443744:E215G;ENSP00000444685:E73G	ENSP00000262133:E289G	E	+	2	0	RBL2	52044964	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.713000	0.91408	1.815000	0.52974	0.402000	0.26972	GAA		0.358	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		19	76	0	0	0	1	0	19	76				
GPA33	10223	broad.mit.edu	37	1	167038355	167038355	+	Silent	SNP	C	C	T	rs144380186		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:167038355C>T	ENST00000367868.3	-	3	562	c.219G>A	c.(217-219)ccG>ccA	p.P73P	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	73	Ig-like V-type.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TGTTTGAAAACGGCCAGATGA	0.507													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16036	0.0		0.0	False		,,,				2504	0.0					ENST00000367868.3																			0				endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(217-219)ccG>ccA		glycoprotein A33 (transmembrane)		C		11,4395	17.9+/-39.9	0,11,2192	93.0	87.0	89.0		219	-11.3	0.0	1	dbSNP_134	89	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GPA33	NM_005814.1		0,12,6491	TT,TC,CC		0.0116,0.2497,0.0923		73/320	167038355	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	10223					integral to plasma membrane	receptor activity	g.chr1:167038355C>T	U79725	CCDS1258.1	1q24.1	2013-01-29			ENSG00000143167	ENSG00000143167		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	4445	protein-coding gene	gene with protein product		602171				9012807, 9245713	Standard	NM_005814		Approved	A33	uc001gea.1	Q99795	OTTHUMG00000034435	ENST00000367868.3:c.219G>A	1.37:g.167038355C>T						GPA33_ENST00000527955.1_5'UTR	p.P73P	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN			3	562	-			73			Ig-like V-type.		Q5VZP6	Silent	SNP	ENST00000367868.3	37	c.219G>A	CCDS1258.1																																																																																				0.507	GPA33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083245.1	NM_005814		13	19	0	0	0	1	0	13	19				
CHST12	55501	broad.mit.edu	37	7	2472601	2472601	+	Silent	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:2472601C>T	ENST00000258711.6	+	2	462	c.327C>T	c.(325-327)cgC>cgT	p.R109R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	109			R -> S (in dbSNP:rs17132395).		carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		GGTCCCCGCGCGACGCCCGGC	0.716																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(325-327)cgC>cgT		carbohydrate (chondroitin 4) sulfotransferase 12							19.0	25.0	23.0					7																	2472601		2186	4282	6468	SO:0001819	synonymous_variant	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2472601C>T	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.327C>T	7.37:g.2472601C>T							p.R109R	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	462	+		Ovarian(82;0.0253)	109		R -> S (in dbSNP:rs17132395).			A4D1Z9|Q502W3|Q9NXY7	Silent	SNP	ENST00000258711.6	37	c.327C>T	CCDS5333.1																																																																																				0.716	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		12	49	0	0	0	1	0	12	49				
PRDM15	63977	broad.mit.edu	37	21	43230589	43230589	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:43230589G>A	ENST00000269844.3	-	28	3781	c.3671C>T	c.(3670-3672)gCg>gTg	p.A1224V	PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000422911.1_Missense_Mutation_p.A915V|PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GCAGCTCTGCGCCTCCACCTT	0.627																																						ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(2743-2745)gCg>gTg		PR domain containing 15							102.0	65.0	77.0					21																	43230589		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43230589G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.3671C>T	21.37:g.43230589G>A	ENSP00000269844:p.Ala1224Val					PRDM15_ENST00000538201.1_Missense_Mutation_p.A878V|PRDM15_ENST00000269844.3_Missense_Mutation_p.A1224V|PRDM15_ENST00000447207.2_Missense_Mutation_p.A858V|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000398548.1_Missense_Mutation_p.A895V	p.A915V			P57071	PRD15_HUMAN			22	2845	-			1224					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2744C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	28.2	4.901726	0.92035	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.08807	4.75;4.75;4.75;4.75;3.05	4.11	4.11	0.48088	Zinc finger, C2H2 (1);	.	.	.	.	T	0.18676	0.0448	L	0.31476	0.935	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.986;0.996	T	0.02885	-1.1098	9	0.87932	D	0	-18.5854	15.3339	0.74234	0.0:0.0:1.0:0.0	.	1224;915;895	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	V	915;895;878;858;1224	ENSP00000408592:A915V;ENSP00000381556:A895V;ENSP00000444044:A878V;ENSP00000390245:A858V;ENSP00000269844:A1224V	ENSP00000269844:A1224V	A	-	2	0	PRDM15	42103658	1.000000	0.71417	0.976000	0.42696	0.954000	0.61252	9.491000	0.97954	1.836000	0.53414	0.306000	0.20318	GCG		0.627	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		4	29	0	0	0	1	0	4	29				
TAS1R2	80834	broad.mit.edu	37	1	19166997	19166997	+	Missense_Mutation	SNP	G	G	A	rs199701205		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:19166997G>A	ENST00000375371.3	-	6	1637	c.1616C>T	c.(1615-1617)cCg>cTg	p.P539L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	539					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CTCGTTATTCGGGCAGGCCTG	0.587																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1615-1617)cCg>cTg		taste receptor, type 1, member 2	Aspartame(DB00168)						48.0	51.0	50.0					1																	19166997		2203	4299	6502	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166997G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1616C>T	1.37:g.19166997G>A	ENSP00000364520:p.Pro539Leu						p.P539L	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1637	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	539					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1616C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854636	0.17106	.	.	ENSG00000179002	ENST00000375371	D	0.90324	-2.65	5.38	4.47	0.54385	GPCR, family 3, nine cysteines domain (1);	0.000000	0.53938	D	0.000058	D	0.84678	0.5525	L	0.41079	1.255	0.58432	D	0.999993	P	0.45348	0.856	B	0.36378	0.223	D	0.85299	0.1072	10	0.72032	D	0.01	.	12.0912	0.53728	0.0846:0.0:0.9154:0.0	.	539	Q8TE23	TS1R2_HUMAN	L	539	ENSP00000364520:P539L	ENSP00000364520:P539L	P	-	2	0	TAS1R2	19039584	0.428000	0.25522	0.866000	0.34008	0.057000	0.15508	0.675000	0.25232	1.282000	0.44496	-0.137000	0.14449	CCG		0.587	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			22	16	0	0	0	1	0	22	16				
LOC101927209	101927209	broad.mit.edu	37	1	142713774	142713774	+	lincRNA	SNP	A	A	G	rs201023195		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:142713774A>G	ENST00000610091.1	-	0	1884																											CTTTTTCCACATTGTCATTTT	0.284																																						ENST00000369381.2																			0																																																			0							g.chr1:142713774A>G																													1.37:g.142713774A>G														0	831	-									RNA	SNP	ENST00000610091.1	37																																																																																						0.284	RP11-417J8.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037265.2			5	49	0	0	0	1	0	5	49				
LILRB1	10859	broad.mit.edu	37	19	55143638	55143638	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:55143638C>T	ENST00000396331.1	+	6	968	c.611C>T	c.(610-612)tCt>tTt	p.S204F	LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	204	Ig-like C2-type 2.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GACTCGAACTCTCCCTATGAG	0.602										HNSCC(37;0.09)																												ENST00000396331.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74						c.(610-612)tCt>tTt		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1							159.0	156.0	157.0					19																	55143638		2203	4300	6503	SO:0001583	missense	0				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143638C>T	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.611C>T	19.37:g.55143638C>T	ENSP00000379622:p.Ser204Phe	HNSCC(37;0.09)				LILRB1_ENST00000448689.1_Missense_Mutation_p.S204F|LILRB1_ENST00000434867.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396321.2_Missense_Mutation_p.S204F|LILRB1_ENST00000396332.4_Missense_Mutation_p.S204F|LILRB1_ENST00000396315.1_Missense_Mutation_p.S204F|LILRB1_ENST00000418536.2_Missense_Mutation_p.S204F|LILRB1_ENST00000324602.7_Missense_Mutation_p.S204F|LILRB1_ENST00000396317.1_Missense_Mutation_p.S204F|LILRB1_ENST00000396327.3_Missense_Mutation_p.S204F|LILRB1_ENST00000427581.2_Missense_Mutation_p.S240F	p.S204F	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	6	968	+			204			Ig-like C2-type 2.		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.611C>T	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	C	0.399	-0.919507	0.02396	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.24350	1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86;1.86	1.57	-3.14	0.05250	Immunoglobulin-like fold (1);	3.116130	0.00941	N	0.002821	T	0.28167	0.0695	M	0.63428	1.95	0.09310	N	1	B;B;B;B;B	0.18741	0.03;0.002;0.005;0.008;0.002	B;B;B;B;B	0.28465	0.09;0.01;0.007;0.025;0.003	T	0.30707	-0.9969	10	0.62326	D	0.03	.	4.3027	0.10932	0.3303:0.4937:0.1759:0.0	.	204;204;204;204;204	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	F	204;204;204;204;204;204;204;204;240;204;204	ENSP00000379614:S204F;ENSP00000391514:S204F;ENSP00000409968:S204F;ENSP00000379622:S204F;ENSP00000379618:S204F;ENSP00000315997:S204F;ENSP00000405243:S204F;ENSP00000379623:S204F;ENSP00000395004:S240F;ENSP00000379610:S204F;ENSP00000379608:S204F	ENSP00000315997:S204F	S	+	2	0	LILRB1	59835450	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-3.281000	0.00528	-1.184000	0.02720	-1.296000	0.01341	TCT		0.602	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4			14	60	0	0	0	1	0	14	60				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	27	0	0	0	1	0	3	27				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		3	25	0	0	0	1	0	3	25				
SLC16A6	9120	broad.mit.edu	37	17	66274395	66274395	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:66274395A>G	ENST00000327268.4	-	3	231	c.67T>C	c.(67-69)Tgg>Cgg	p.W23R	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	23					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCCCAGCCCCATCCTCCATCA	0.378																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(67-69)Tgg>Cgg		solute carrier family 16, member 6	Pyruvic acid(DB00119)						91.0	90.0	90.0					17																	66274395		2203	4300	6503	SO:0001583	missense	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66274395A>G	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.67T>C	17.37:g.66274395A>G	ENSP00000319991:p.Trp23Arg					ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.W23R	p.W23R	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		3	231	-	all_cancers(12;1.24e-09)		23					Q6P1X3	Missense_Mutation	SNP	ENST00000327268.4	37	c.67T>C	CCDS11675.1	.	.	.	.	.	.	.	.	.	.	A	11.66	1.704204	0.30232	.	.	ENSG00000108932	ENST00000327268	T	0.56444	0.46	5.18	5.18	0.71444	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.73241	0.3562	M	0.80332	2.49	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77864	-0.2429	10	0.87932	D	0	.	14.4929	0.67665	1.0:0.0:0.0:0.0	.	23	O15403	MOT7_HUMAN	R	23	ENSP00000319991:W23R	ENSP00000319991:W23R	W	-	1	0	SLC16A6	63785990	1.000000	0.71417	1.000000	0.80357	0.695000	0.40330	8.641000	0.91032	2.081000	0.62600	0.533000	0.62120	TGG		0.378	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		29	38	0	0	0	1	0	29	38				
CLPTM1	1209	broad.mit.edu	37	19	45490584	45490584	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:45490584G>A	ENST00000337392.5	+	8	1091	c.941G>A	c.(940-942)cGc>cAc	p.R314H	CLPTM1_ENST00000541297.2_Missense_Mutation_p.R300H|CLPTM1_ENST00000546079.1_Missense_Mutation_p.R212H|CLPTM1_ENST00000589158.1_3'UTR	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	314					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TCGCTTTGGCGCTGGCAGCTC	0.587																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(898-900)cGc>cAc		cleft lip and palate associated transmembrane protein 1							93.0	92.0	93.0					19																	45490584		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45490584G>A	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.941G>A	19.37:g.45490584G>A	ENSP00000336994:p.Arg314His					CLPTM1_ENST00000546079.1_Missense_Mutation_p.R212H|CLPTM1_ENST00000589158.1_3'UTR|CLPTM1_ENST00000337392.5_Missense_Mutation_p.R314H	p.R300H			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	8	1364	+		all_neural(266;0.224)|Ovarian(192;0.231)	314					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.899G>A	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.855345	0.91355	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	4.64	4.64	0.57946	.	0.057152	0.64402	D	0.000002	T	0.76371	0.3978	M	0.69185	2.1	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73380	0.967;0.98;0.98	T	0.78455	-0.2197	9	0.59425	D	0.04	-27.0067	15.1028	0.72296	0.0:0.0:1.0:0.0	.	300;314;314	F5H8J3;B3KQH2;O96005	.;.;CLPT1_HUMAN	H	212;300;314;314	.	ENSP00000336994:R314H	R	+	2	0	CLPTM1	50182424	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	9.058000	0.93896	2.426000	0.82243	0.558000	0.71614	CGC		0.587	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		12	47	0	0	0	1	0	12	47				
POMGNT1	55624	broad.mit.edu	37	1	46663480	46663480	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:46663480T>G	ENST00000371984.3	-	2	171	c.14A>C	c.(13-15)aAg>aCg	p.K5T	POMGNT1_ENST00000535522.1_5'Flank|POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000396420.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T	NM_017739.3	NP_060209	Q8WZA1	PMGT1_HUMAN	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)	5					protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)			breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(166;0.155)					GGGGCTGGGCTTCCAGTCGTC	0.582																																						ENST00000396420.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(13-15)aAg>aCg		protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)							60.0	62.0	62.0					1																	46663480		2203	4300	6503	SO:0001583	missense	55624				protein N-linked glycosylation|protein O-linked glycosylation	Golgi membrane|integral to membrane|microsome	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity	g.chr1:46663480T>G		CCDS531.1, CCDS57995.1	1p34.1	2014-09-17	2013-07-31		ENSG00000085998	ENSG00000085998	2.4.1.-	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	19139	protein-coding gene	gene with protein product	"""protein O-mannose beta-1,2-N-acetylglucosaminyltransferase"""	606822	"""muscle-eye-brain disease"", ""protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase"""	MEB		11742540, 12788071	Standard	NM_017739		Approved	FLJ20277, MGAT1.2, LGMD2O	uc001cpg.3	Q8WZA1	OTTHUMG00000007604	ENST00000371984.3:c.14A>C	1.37:g.46663480T>G	ENSP00000361052:p.Lys5Thr					POMGNT1_ENST00000371992.1_Missense_Mutation_p.K5T|POMGNT1_ENST00000371986.3_Missense_Mutation_p.K5T|POMGNT1_ENST00000371984.3_Missense_Mutation_p.K5T	p.K5T			Q8WZA1	PMGT1_HUMAN			2	650	-	Acute lymphoblastic leukemia(166;0.155)		5					D3DQ16|Q5VST2|Q5VST3|Q9BV55|Q9H9L8|Q9NXF9|Q9NYF7	Missense_Mutation	SNP	ENST00000371984.3	37	c.14A>C	CCDS531.1	.	.	.	.	.	.	.	.	.	.	T	16.34	3.094644	0.56075	.	.	ENSG00000085998	ENST00000396420;ENST00000371984;ENST00000371992;ENST00000371986	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.43	5.43	0.79202	.	0.224762	0.53938	D	0.000058	T	0.59797	0.2220	N	0.16307	0.4	0.37977	D	0.933467	B;B;B	0.13145	0.007;0.005;0.003	B;B;B	0.14578	0.011;0.005;0.003	T	0.58329	-0.7655	10	0.21014	T	0.42	-21.7741	15.4786	0.75504	0.0:0.0:0.0:1.0	.	5;5;5	Q68CV6;Q5VST3;Q8WZA1	.;.;PMGT1_HUMAN	T	5	ENSP00000379698:K5T;ENSP00000361052:K5T;ENSP00000361060:K5T;ENSP00000361054:K5T	ENSP00000361052:K5T	K	-	2	0	POMGNT1	46436067	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.048000	0.71046	2.056000	0.61249	0.533000	0.62120	AAG		0.582	POMGNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020146.1	NM_017739		32	44	0	0	0	1	0	32	44				
GPNMB	10457	broad.mit.edu	37	7	23313767	23313767	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:23313767C>T	ENST00000381990.2	+	11	1804	c.1643C>T	c.(1642-1644)gCa>gTa	p.A548V	GPNMB_ENST00000258733.4_Missense_Mutation_p.A536V|GPNMB_ENST00000539136.1_Missense_Mutation_p.A437V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A490V|GPNMB_ENST00000478451.1_3'UTR	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	548					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTCAACCGTGCAAAAGCCGTG	0.418																																						ENST00000258733.4																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1606-1608)gCa>gTa		glycoprotein (transmembrane) nmb							90.0	91.0	91.0					7																	23313767		2203	4300	6503	SO:0001583	missense	10457				negative regulation of cell proliferation	melanosome		g.chr7:23313767C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1643C>T	7.37:g.23313767C>T	ENSP00000371420:p.Ala548Val					GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000539136.1_Missense_Mutation_p.A437V|GPNMB_ENST00000453162.2_Missense_Mutation_p.A490V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A548V	p.A536V			Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		11	1902	+			548					A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	c.1607C>T	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	C	1.928	-0.446633	0.04572	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.13657	2.58;2.58;2.57;2.57	6.07	3.2	0.36748	.	0.346446	0.25436	N	0.030684	T	0.08358	0.0208	L	0.39633	1.23	0.09310	N	1	B;B;B;P	0.45531	0.176;0.012;0.136;0.86	B;B;B;P	0.44561	0.037;0.023;0.025;0.453	T	0.40346	-0.9568	10	0.05721	T	0.95	-9.8319	1.0898	0.01661	0.2137:0.3994:0.2084:0.1785	.	437;490;548;536	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	V	536;583;548;431;437;490	ENSP00000258733:A536V;ENSP00000371420:A548V;ENSP00000445266:A437V;ENSP00000405586:A490V	ENSP00000258733:A536V	A	+	2	0	GPNMB	23280292	0.028000	0.19301	0.020000	0.16555	0.019000	0.09904	1.346000	0.33964	2.884000	0.98904	0.655000	0.94253	GCA		0.418	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340		39	48	0	0	0	1	0	39	48				
EPB41L3	23136	broad.mit.edu	37	18	5395093	5395093	+	Silent	SNP	C	C	T	rs144676596		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr18:5395093C>T	ENST00000341928.2	-	21	3466	c.3126G>A	c.(3124-3126)acG>acA	p.T1042T	EPB41L3_ENST00000540638.2_Silent_p.T820T|EPB41L3_ENST00000427684.2_Silent_p.T339T|EPB41L3_ENST00000342933.3_Silent_p.T1042T|EPB41L3_ENST00000400111.3_Silent_p.T820T|EPB41L3_ENST00000544123.1_Silent_p.T873T|EPB41L3_ENST00000542146.1_Silent_p.T347T|EPB41L3_ENST00000542652.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1042	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.T1042T(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGCATCCCCCGTGATGACTA	0.448																																						ENST00000341928.2																			1	Substitution - coding silent(1)	p.T1042T(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3124-3126)acG>acA		erythrocyte membrane protein band 4.1-like 3		C		2,4404	4.2+/-10.8	0,2,2201	150.0	128.0	136.0		3126	-11.9	0.8	18	dbSNP_134	136	0,8600		0,0,4300	no	coding-synonymous	EPB41L3	NM_012307.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		1042/1088	5395093	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5395093C>T	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3126G>A	18.37:g.5395093C>T						EPB41L3_ENST00000400111.3_Silent_p.T820T|EPB41L3_ENST00000544123.1_Silent_p.T873T|EPB41L3_ENST00000342933.3_Silent_p.T1042T|EPB41L3_ENST00000540638.2_Silent_p.T820T|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Silent_p.T347T|EPB41L3_ENST00000427684.2_Silent_p.T339T	p.T1042T	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			21	3466	-			1042			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Silent	SNP	ENST00000341928.2	37	c.3126G>A	CCDS11838.1																																																																																				0.448	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		4	51	0	0	0	1	0	4	51				
NRIP1	8204	broad.mit.edu	37	21	16339649	16339649	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:16339649T>C	ENST00000400202.1	-	3	1577	c.865A>G	c.(865-867)Aat>Gat	p.N289D	NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D|NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	289	Interaction with ZNF366.|Repression domain 1.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGATTTGCATTTTGCGTTTTT	0.448																																						ENST00000400202.1																			0				cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39						c.(865-867)Aat>Gat		nuclear receptor interacting protein 1							108.0	101.0	103.0					21																	16339649		2203	4300	6503	SO:0001583	missense	8204				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity	g.chr21:16339649T>C	X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.865A>G	21.37:g.16339649T>C	ENSP00000383063:p.Asn289Asp					NRIP1_ENST00000318948.4_Missense_Mutation_p.N289D|NRIP1_ENST00000400199.1_Missense_Mutation_p.N289D	p.N289D			P48552	NRIP1_HUMAN		Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)	3	1577	-			289			Repression domain 1.		Q8IWE8	Missense_Mutation	SNP	ENST00000400202.1	37	c.865A>G	CCDS13568.1	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099552	0.37048	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.08896	3.04;3.04;3.04	5.99	5.99	0.97316	.	0.331890	0.31976	N	0.006778	T	0.12050	0.0293	L	0.50333	1.59	0.32659	N	0.518337	P	0.39480	0.675	B	0.39258	0.295	T	0.04053	-1.0981	10	0.49607	T	0.09	-16.1196	16.4886	0.84191	0.0:0.0:0.0:1.0	.	289	P48552	NRIP1_HUMAN	D	289	ENSP00000383060:N289D;ENSP00000383063:N289D;ENSP00000327213:N289D	ENSP00000327213:N289D	N	-	1	0	NRIP1	15261520	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.209000	0.58493	2.294000	0.77228	0.528000	0.53228	AAT		0.448	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157926.1	NM_003489		32	54	0	0	0	1	0	32	54				
PI4KA	5297	broad.mit.edu	37	22	21097023	21097023	+	Silent	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:21097023G>T	ENST00000572273.1	-	31	3542	c.3312C>A	c.(3310-3312)acC>acA	p.T1104T	PI4KA_ENST00000255882.6_Silent_p.T1162T			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1104					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TCTGGCCTGTGGTGCCTGAGA	0.478																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(3484-3486)acC>acA		phosphatidylinositol 4-kinase, catalytic, alpha							243.0	188.0	207.0					22																	21097023		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21097023G>T	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3312C>A	22.37:g.21097023G>T						PI4KA_ENST00000572273.1_Silent_p.T1104T	p.T1162T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		31	3572	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1104					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.3486C>A																																																																																					0.478	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		15	76	1	0	6.31663e-08	1	6.51402e-08	15	76				
ARHGAP20	57569	broad.mit.edu	37	11	110479773	110479773	+	Splice_Site	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr11:110479773C>T	ENST00000260283.4	-	9	994	c.710G>A	c.(709-711)gGc>gAc	p.G237D	ARHGAP20_ENST00000524756.1_Splice_Site_p.G214D|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201D|ARHGAP20_ENST00000533353.1_Splice_Site_p.G211D|ARHGAP20_ENST00000527598.1_Splice_Site_p.G201D|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211D	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	237	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TCTCTCAGAGCCCTTAGAGAT	0.373																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.e9-1		Rho GTPase activating protein 20							102.0	113.0	110.0					11																	110479773		2201	4298	6499	SO:0001630	splice_region_variant	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110479773C>T	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.709-1G>A	11.37:g.110479773C>T						ARHGAP20_ENST00000527598.1_Splice_Site_p.G201_splice|ARHGAP20_ENST00000357139.3_Splice_Site_p.G211_splice|ARHGAP20_ENST00000533353.1_Splice_Site_p.G211_splice|ARHGAP20_ENST00000528829.1_Splice_Site_p.G201_splice|ARHGAP20_ENST00000524756.1_Splice_Site_p.G214_splice	p.G237_splice	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	9	994	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	237			Ras-associating.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Splice_Site	SNP	ENST00000260283.4	37	c.708_splice	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.961773	0.74016	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	5.76	5.76	0.90799	Ras-association (2);	0.044086	0.85682	D	0.000000	T	0.77336	0.4115	L	0.59436	1.845	0.48901	D	0.999724	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.72924	-0.4144	10	0.36615	T	0.2	.	19.9345	0.97131	0.0:1.0:0.0:0.0	.	237;214	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	D	237;211;214;201;211;201	ENSP00000260283:G237D;ENSP00000349660:G211D;ENSP00000432076:G214D;ENSP00000436319:G201D;ENSP00000436522:G211D;ENSP00000431399:G201D	ENSP00000260283:G237D	G	-	2	0	ARHGAP20	109984983	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	4.939000	0.63526	2.882000	0.98803	0.655000	0.94253	GGC		0.373	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809	Missense_Mutation	51	65	0	0	0	1	0	51	65				
NPR3	4883	broad.mit.edu	37	5	32789763	32789763	+	3'UTR	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr5:32789763C>T	ENST00000265074.8	+	0	5281				AC026703.1_ENST00000326958.1_Missense_Mutation_p.H86Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3						adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTACTCAAGGCACATGTGCCT	0.408																																						ENST00000326958.1																			0											c.(256-258)Cac>Tac									141.0	120.0	127.0					5																	32789763		2203	4300	6503	SO:0001624	3_prime_UTR_variant	0							g.chr5:32789763C>T		CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.*3312C>T	5.37:g.32789763C>T						NPR3_ENST00000265074.8_3'UTR	p.H86Y							1	819	+								A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	ENST00000265074.8	37	c.256C>T	CCDS56357.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896437	0.33442	.	.	ENSG00000181495	ENST00000326958	.	.	.	4.68	0.628	0.17681	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.20764	N	0.999855	.	.	.	.	.	.	T	0.36768	-0.9734	5	0.87932	D	0	.	3.3698	0.07216	0.3585:0.4458:0.0:0.1957	.	.	.	.	Y	86	.	ENSP00000318340:H86Y	H	+	1	0	AC026703.1	32825520	0.003000	0.15002	0.008000	0.14137	0.956000	0.61745	-0.148000	0.10219	0.301000	0.22738	0.591000	0.81541	CAC		0.408	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317550.3	NM_000908		4	126	0	0	0	1	0	4	126				
SRSF4	6429	broad.mit.edu	37	1	29481413	29481413	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:29481413G>A	ENST00000373795.4	-	4	607	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	SRSF4_ENST00000546138.1_Intron|RP11-242O24.5_ENST00000450108.1_RNA|SRSF4_ENST00000466448.1_5'UTR	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN	serine/arginine-rich splicing factor 4	125	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						CCTGCCTGACGCATATAATCC	0.343																																						ENST00000373795.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(1)	27						c.(373-375)Cgt>Tgt		serine/arginine-rich splicing factor 4							69.0	68.0	68.0					1																	29481413		2203	4300	6503	SO:0001583	missense	6429				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|RNA binding	g.chr1:29481413G>A	BC002781	CCDS333.1	1p35.3	2013-02-12	2010-06-22	2010-06-22	ENSG00000116350	ENSG00000116350		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10786	protein-coding gene	gene with protein product	"""SR splicing factor 4"""	601940	"""splicing factor, arginine/serine-rich 4"""	SFRS4		8321209, 20516191	Standard	NM_005626		Approved	SRP75	uc001bro.3	Q08170	OTTHUMG00000003663	ENST00000373795.4:c.373C>T	1.37:g.29481413G>A	ENSP00000362900:p.Arg125Cys					SRSF4_ENST00000546138.1_Intron|SRSF4_ENST00000466448.1_5'UTR	p.R125C	NM_005626.4	NP_005617.2	Q08170	SRSF4_HUMAN			4	607	-			125			RRM 2.		Q5VXP1|Q9BUA4|Q9UEB5	Missense_Mutation	SNP	ENST00000373795.4	37	c.373C>T	CCDS333.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.398081	0.83120	.	.	ENSG00000116350	ENST00000373795;ENST00000434636	T	0.17691	2.26	5.47	5.47	0.80525	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	H	0.98507	4.25	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77998	-0.2376	10	0.87932	D	0	.	18.678	0.91535	0.0:0.0:1.0:0.0	.	125	Q08170	SRSF4_HUMAN	C	125	ENSP00000362900:R125C	ENSP00000362900:R125C	R	-	1	0	SRSF4	29354000	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.774000	0.62339	2.708000	0.92522	0.650000	0.86243	CGT		0.343	SRSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010392.1	NM_005626		10	40	0	0	0	1	0	10	40				
SPTA1	6708	broad.mit.edu	37	1	158614143	158614143	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:158614143G>A	ENST00000368147.4	-	30	4418	c.4238C>T	c.(4237-4239)gCa>gTa	p.A1413V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1413					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTCTCACGTGCCACCATCCA	0.473																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(4237-4239)gCa>gTa		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							109.0	106.0	107.0					1																	158614143		1963	4157	6120	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158614143G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.4238C>T	1.37:g.158614143G>A	ENSP00000357129:p.Ala1413Val					SPTA1_ENST00000368147.3_Missense_Mutation_p.A1413V	p.A1413V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			30	4418	-	all_hematologic(112;0.0378)		1413					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.4238C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.315485	0.81358	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.35236	1.32;1.32	5.03	3.16	0.36331	.	0.000000	0.32120	N	0.006560	T	0.25680	0.0625	M	0.71206	2.165	0.50632	D	0.999882	P	0.46220	0.874	B	0.44278	0.445	T	0.03587	-1.1022	10	0.35671	T	0.21	.	10.8484	0.46757	0.1567:0.0:0.8433:0.0	.	1413	P02549	SPTA1_HUMAN	V	1413	ENSP00000357130:A1413V;ENSP00000357129:A1413V	ENSP00000357129:A1413V	A	-	2	0	SPTA1	156880767	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	5.989000	0.70587	0.825000	0.34637	0.591000	0.81541	GCA		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		3	51	0	0	0	1	0	3	51				
OR4L1	122742	broad.mit.edu	37	14	20528658	20528658	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr14:20528658G>T	ENST00000315683.1	+	1	455	c.455G>T	c.(454-456)gGt>gTt	p.G152V		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	152						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G152V(1)		central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TGGATAATTGGTTTTTTACAC	0.403																																						ENST00000315683.1																			1	Substitution - Missense(1)	p.G152V(1)	large_intestine(1)	central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(454-456)gGt>gTt		olfactory receptor, family 4, subfamily L, member 1							143.0	134.0	137.0					14																	20528658		2203	4300	6503	SO:0001583	missense	122742				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20528658G>T		CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.455G>T	14.37:g.20528658G>T	ENSP00000319217:p.Gly152Val						p.G152V	NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)	1	455	+	all_cancers(95;0.00108)		152					Q6IEZ5	Missense_Mutation	SNP	ENST00000315683.1	37	c.455G>T	CCDS32029.1	.	.	.	.	.	.	.	.	.	.	.	10.46	1.355282	0.24512	.	.	ENSG00000176246	ENST00000315683	T	0.39056	1.1	4.37	4.37	0.52481	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	T	0.73024	0.3534	H	0.94847	3.59	0.21256	N	0.999749	D	0.89917	1.0	D	0.91635	0.999	T	0.69895	-0.5021	10	0.87932	D	0	.	14.8025	0.69926	0.0:0.0:1.0:0.0	.	152	Q8NH43	OR4L1_HUMAN	V	152	ENSP00000319217:G152V	ENSP00000319217:G152V	G	+	2	0	OR4L1	19598498	0.996000	0.38824	0.615000	0.29064	0.091000	0.18340	4.483000	0.60264	2.423000	0.82170	0.650000	0.86243	GGT		0.403	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404381.1			48	34	1	0	2.77807e-22	1	2.9573e-22	48	34				
CHST12	55501	broad.mit.edu	37	7	2473422	2473422	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:2473422A>G	ENST00000258711.6	+	2	1283	c.1148A>G	c.(1147-1149)aAg>aGg	p.K383R		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	383					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		TGGTTCGCCAAGATCCCCCTG	0.627																																						ENST00000258711.6																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21						c.(1147-1149)aAg>aGg		carbohydrate (chondroitin 4) sulfotransferase 12							47.0	51.0	50.0					7																	2473422		2203	4300	6503	SO:0001583	missense	55501				dermatan sulfate biosynthetic process	integral to Golgi membrane	3'-phosphoadenosine 5'-phosphosulfate binding|chondroitin 4-sulfotransferase activity|protein binding	g.chr7:2473422A>G	AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.1148A>G	7.37:g.2473422A>G	ENSP00000258711:p.Lys383Arg						p.K383R	NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)	2	1283	+		Ovarian(82;0.0253)	383					A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	c.1148A>G	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	A	13.09	2.134670	0.37630	.	.	ENSG00000136213	ENST00000258711	T	0.72835	-0.69	5.15	0.369	0.16151	.	2.679520	0.01667	N	0.025437	T	0.60457	0.2270	L	0.34521	1.04	0.20307	N	0.999917	B	0.12013	0.005	B	0.14023	0.01	T	0.38200	-0.9672	10	0.33940	T	0.23	-24.3429	6.7016	0.23229	0.6196:0.2889:0.0915:0.0	.	383	Q9NRB3	CHSTC_HUMAN	R	383	ENSP00000258711:K383R	ENSP00000258711:K383R	K	+	2	0	CHST12	2439948	0.948000	0.32251	0.000000	0.03702	0.983000	0.72400	3.420000	0.52735	-0.045000	0.13468	0.459000	0.35465	AAG		0.627	CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641		28	27	0	0	0	1	0	28	27				
TGM6	343641	broad.mit.edu	37	20	2384322	2384322	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr20:2384322G>A	ENST00000202625.2	+	9	1250	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	TGM6_ENST00000381423.1_Missense_Mutation_p.A397T	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	397					cell death (GO:0008219)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GGAGGTCAACGCCGACTACAT	0.617																																						ENST00000202625.2																			0				breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52						c.(1189-1191)Gcc>Acc		transglutaminase 6	L-Glutamine(DB00130)						109.0	88.0	95.0					20																	2384322		2203	4300	6503	SO:0001583	missense	343641				cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2384322G>A	AF540970	CCDS13025.1, CCDS58761.1	20p13	2010-12-19	2004-07-05	2004-07-07	ENSG00000166948	ENSG00000166948		"""Transglutaminases"""	16255	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 35"""	613900	"""transglutaminase 3-like"""	TGM3L		11390390, 21106500	Standard	NM_198994		Approved	dJ734P14.3, TGY, SCA35	uc002wfy.1	O95932	OTTHUMG00000031692	ENST00000202625.2:c.1189G>A	20.37:g.2384322G>A	ENSP00000202625:p.Ala397Thr					TGM6_ENST00000381423.1_Missense_Mutation_p.A397T	p.A397T	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN			9	1250	+			397					Q5JXU4|Q5JXU5|Q719M2|Q719M3|Q9Y4U8	Missense_Mutation	SNP	ENST00000202625.2	37	c.1189G>A	CCDS13025.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174753	0.78452	.	.	ENSG00000166948	ENST00000202625;ENST00000381423	T;T	0.73897	-0.79;-0.79	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	D	0.87497	0.6192	M	0.88310	2.945	0.35590	D	0.806985	D;D	0.89917	0.999;1.0	D;P	0.66979	0.948;0.894	D	0.92183	0.5753	10	0.87932	D	0	-19.2016	16.0187	0.80464	0.0:0.0:1.0:0.0	.	397;397	O95932-2;O95932	.;TGM3L_HUMAN	T	397	ENSP00000202625:A397T;ENSP00000370831:A397T	ENSP00000202625:A397T	A	+	1	0	TGM6	2332322	1.000000	0.71417	0.405000	0.26409	0.853000	0.48598	6.434000	0.73408	2.735000	0.93741	0.549000	0.68633	GCC		0.617	TGM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077581.2	NM_198994		25	19	0	0	0	1	0	25	19				
COL1A2	1278	broad.mit.edu	37	7	94057038	94057038	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr7:94057038C>T	ENST00000297268.6	+	49	3838	c.3367C>T	c.(3367-3369)Cgc>Tgc	p.R1123C		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1123				Missing (in Ref. 17; CAA23761). {ECO:0000305}.	blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGACCAGCCTCGCTCAGCACC	0.552										HNSCC(75;0.22)																												ENST00000297268.6																		COL1A2/PLAG1(3)	0				NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115						c.(3367-3369)Cgc>Tgc		collagen, type I, alpha 2	Collagenase(DB00048)						98.0	97.0	98.0					7																	94057038		2203	4300	6503	SO:0001583	missense	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057038C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3367C>T	7.37:g.94057038C>T	ENSP00000297268:p.Arg1123Cys	HNSCC(75;0.22)					p.R1123C	NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		49	3838	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1123	Missing (in Ref. 17; CAA23761).				P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	ENST00000297268.6	37	c.3367C>T	CCDS34682.1	.	.	.	.	.	.	.	.	.	.	C	18.02	3.530525	0.64860	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.89939	-2.59	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000040	D	0.90225	0.6944	N	0.22421	0.69	0.43819	D	0.99638	D	0.89917	1.0	D	0.74023	0.982	D	0.90829	0.4715	10	0.62326	D	0.03	.	15.7376	0.77859	0.0:1.0:0.0:0.0	.	1123	P08123	CO1A2_HUMAN	C	1123;1124	ENSP00000297268:R1123C	ENSP00000297268:R1123C	R	+	1	0	COL1A2	93894974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.549000	0.53681	2.873000	0.98535	0.561000	0.74099	CGC		0.552	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		32	25	0	0	0	1	0	32	25				
SH3D21	79729	broad.mit.edu	37	1	36786088	36786088	+	Silent	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:36786088G>A	ENST00000426732.2	+	13	1761	c.1476G>A	c.(1474-1476)gaG>gaA	p.E492E	SH3D21_ENST00000505871.1_Silent_p.E497E|SH3D21_ENST00000312808.4_Silent_p.E254E|EVA1B_ENST00000490466.1_5'Flank|SH3D21_ENST00000453908.2_Silent_p.E608E|SH3D21_ENST00000474766.1_3'UTR			A4FU49	SH321_HUMAN	SH3 domain containing 21	492						extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						CCCCCAACGAGCAGAGGCCTC	0.602																																						ENST00000453908.2																			0				endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						c.(1822-1824)gaG>gaA		SH3 domain containing 21							35.0	42.0	40.0					1																	36786088		2203	4300	6503	SO:0001819	synonymous_variant	79729							g.chr1:36786088G>A	AK056459	CCDS30674.1, CCDS30674.2	1p34.3	2011-02-21	2011-02-21	2011-02-21	ENSG00000214193	ENSG00000214193			26236	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 113"""	C1orf113		12477932	Standard	NM_024676		Approved	FLJ22938	uc010oia.1	A4FU49	OTTHUMG00000007868	ENST00000426732.2:c.1476G>A	1.37:g.36786088G>A						SH3D21_ENST00000505871.1_Silent_p.E497E|SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Silent_p.E492E|SH3D21_ENST00000312808.4_Silent_p.E254E	p.E608E	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN			14	1852	+			492					B4DLI6|D3DPS6|J3KQM5|Q5VTK7|Q86XZ6|Q8N445|Q96DN4|Q9H5W5	Silent	SNP	ENST00000426732.2	37	c.1824G>A																																																																																					0.602	SH3D21-202	KNOWN	basic	protein_coding	protein_coding		NM_024676		15	21	0	0	0	1	0	15	21				
OLFML3	56944	broad.mit.edu	37	1	114524076	114524076	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:114524076T>G	ENST00000320334.4	+	3	980	c.906T>G	c.(904-906)gaT>gaG	p.D302E	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E|OLFML3_ENST00000369551.1_Missense_Mutation_p.D282E	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	302	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAAGTTAGATCCACAGACAC	0.547																																						ENST00000369551.1																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14						c.(844-846)gaT>gaG		olfactomedin-like 3							99.0	82.0	87.0					1																	114524076		2203	4300	6503	SO:0001583	missense	56944				multicellular organismal development	extracellular region		g.chr1:114524076T>G	AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.906T>G	1.37:g.114524076T>G	ENSP00000322273:p.Asp302Glu					OLFML3_ENST00000320334.4_Missense_Mutation_p.D302E|OLFML3_ENST00000393300.2_Missense_Mutation_p.D282E|OLFML3_ENST00000491700.1_3'UTR	p.D282E			Q9NRN5	OLFL3_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	4	1134	+	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	302			Olfactomedin-like.		Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	Missense_Mutation	SNP	ENST00000320334.4	37	c.846T>G	CCDS870.1	.	.	.	.	.	.	.	.	.	.	T	16.14	3.037802	0.54896	.	.	ENSG00000116774	ENST00000369551;ENST00000320334;ENST00000393300	D;D;D	0.90676	-2.71;-2.71;-2.71	5.96	1.56	0.23342	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	T	0.81235	0.4780	L	0.59967	1.855	0.80722	D	1	P;P	0.51537	0.946;0.757	B;B	0.43155	0.41;0.334	T	0.76634	-0.2887	10	0.32370	T	0.25	.	9.4195	0.38541	0.0:0.6642:0.0:0.3358	.	282;302	Q9NRN5-2;Q9NRN5	.;OLFL3_HUMAN	E	282;302;282	ENSP00000358564:D282E;ENSP00000322273:D302E;ENSP00000376977:D282E	ENSP00000322273:D302E	D	+	3	2	OLFML3	114325599	0.958000	0.32768	1.000000	0.80357	0.995000	0.86356	0.213000	0.17521	0.278000	0.22164	0.533000	0.62120	GAT		0.547	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033119.1	NM_020190		12	54	0	0	0	1	0	12	54				
USH2A	7399	broad.mit.edu	37	1	216251433	216251433	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:216251433T>G	ENST00000307340.3	-	27	5956	c.5570A>C	c.(5569-5571)cAa>cCa	p.Q1857P	RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000442606.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1857	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAACTTACCTTGTTCCAAACA	0.458										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(5569-5571)cAa>cCa		Usher syndrome 2A (autosomal recessive, mild)							72.0	77.0	75.0					1																	216251433		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216251433T>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5570A>C	1.37:g.216251433T>G	ENSP00000305941:p.Gln1857Pro	HNSCC(13;0.011)				RP11-22M7.2_ENST00000446411.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.Q1857P|RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA	p.Q1857P			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	27	5956	-			1857			Laminin G-like 2.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5570A>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.941165	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78003	-1.14;-1.14	5.01	-2.47	0.06442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.384731	0.18942	N	0.126915	T	0.64080	0.2566	L	0.43701	1.375	0.21841	N	0.999514	B	0.15141	0.012	B	0.16722	0.016	T	0.48547	-0.9026	10	0.27785	T	0.31	.	8.6101	0.33797	0.2134:0.0:0.4408:0.3458	.	1857	O75445	USH2A_HUMAN	P	1857	ENSP00000305941:Q1857P;ENSP00000355910:Q1857P	ENSP00000305941:Q1857P	Q	-	2	0	USH2A	214318056	1.000000	0.71417	0.478000	0.27316	0.911000	0.54048	1.443000	0.35057	-0.804000	0.04410	0.528000	0.53228	CAA		0.458	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		31	35	0	0	0	1	0	31	35				
PIK3CB	5291	broad.mit.edu	37	3	138417865	138417865	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:138417865C>T	ENST00000477593.1	-	12	1727	c.1654G>A	c.(1654-1656)Gaa>Aaa	p.E552K	PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	552	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)	p.E552K(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	ATTTCATTTTCACACAGTTGA	0.373																																						ENST00000477593.1																			1	Substitution - Missense(1)	p.E552K(1)	endometrium(1)	NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1654-1656)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta							98.0	98.0	98.0					3																	138417865		2203	4300	6503	SO:0001583	missense	5291				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:138417865C>T		CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1654G>A	3.37:g.138417865C>T	ENSP00000418143:p.Glu552Lys					PIK3CB_ENST00000544716.1_5'UTR|PIK3CB_ENST00000289153.2_Missense_Mutation_p.E552K	p.E552K			P42338	PK3CB_HUMAN			12	1727	-			552			PI3K helical.		D3DNF0|Q24JU2	Missense_Mutation	SNP	ENST00000477593.1	37	c.1654G>A	CCDS3104.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.522909	0.85600	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.63255	-0.03;-0.03	5.91	5.01	0.66863	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73845	0.3639	L	0.54863	1.705	0.80722	D	1	D;D	0.76494	0.967;0.999	P;D	0.73708	0.897;0.981	T	0.69228	-0.5200	10	0.30078	T	0.28	-17.9641	16.5318	0.84362	0.1311:0.8689:0.0:0.0	.	552;139	P42338;B4DZI3	PK3CB_HUMAN;.	K	552	ENSP00000418143:E552K;ENSP00000289153:E552K	ENSP00000289153:E552K	E	-	1	0	PIK3CB	139900555	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.758000	0.68776	2.805000	0.96524	0.460000	0.39030	GAA		0.373	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358019.1			7	71	0	0	0	1	0	7	71				
SMPD2	6610	broad.mit.edu	37	6	109762786	109762786	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr6:109762786G>A	ENST00000258052.3	+	3	538	c.179G>A	c.(178-180)aGa>aAa	p.R60K	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	60					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		CAGTACCTGAGACAGAAGCTG	0.607																																						ENST00000258052.3																			0				endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8						c.(178-180)aGa>aAa		sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)							173.0	155.0	161.0					6																	109762786		2203	4300	6503	SO:0001583	missense	6610				induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity	g.chr6:109762786G>A	AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.179G>A	6.37:g.109762786G>A	ENSP00000258052:p.Arg60Lys						p.R60K	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)	3	538	+		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)	60					Q5TED1|Q9BWR3	Missense_Mutation	SNP	ENST00000258052.3	37	c.179G>A	CCDS5075.1	.	.	.	.	.	.	.	.	.	.	G	11.63	1.695050	0.30052	.	.	ENSG00000135587	ENST00000258052	T	0.29397	1.57	4.87	1.94	0.25998	Endonuclease/exonuclease/phosphatase (2);	0.234553	0.49916	N	0.000127	T	0.03434	0.0099	N	0.04355	-0.22	0.31040	N	0.716408	B;B	0.06786	0.001;0.0	B;B	0.15484	0.013;0.003	T	0.44982	-0.9292	10	0.12430	T	0.62	-5.0742	6.9569	0.24576	0.2911:0.0:0.7089:0.0	.	60;60	B2R8U8;O60906	.;NSMA_HUMAN	K	60	ENSP00000258052:R60K	ENSP00000258052:R60K	R	+	2	0	SMPD2	109869479	0.886000	0.30341	0.945000	0.38365	0.993000	0.82548	1.217000	0.32455	0.280000	0.22209	0.655000	0.94253	AGA		0.607	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041755.1			35	42	0	0	0	1	0	35	42				
CSNK1G1	53944	broad.mit.edu	37	15	64464144	64464144	+	Nonsense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr15:64464144G>A	ENST00000303052.7	-	12	1678	c.1255C>T	c.(1255-1257)Cag>Tag	p.Q419*	CSNK1G1_ENST00000607537.1_Intron	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	419					Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TTGTGGCGCTGAGCAGTCTTC	0.547																																						ENST00000303052.7																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						c.(1255-1257)Cag>Tag		casein kinase 1, gamma 1							110.0	117.0	115.0					15																	64464144		2054	4207	6261	SO:0001587	stop_gained	53944				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	g.chr15:64464144G>A	AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.1255C>T	15.37:g.64464144G>A	ENSP00000305777:p.Gln419*					CSNK1G1_ENST00000607537.1_Intron	p.Q419*	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN			12	1678	-			419					Q5JPH1|Q96AE9|Q9HCP1	Nonsense_Mutation	SNP	ENST00000303052.7	37	c.1255C>T	CCDS10192.2	.	.	.	.	.	.	.	.	.	.	G	38	7.081683	0.98051	.	.	ENSG00000169118	ENST00000303052;ENST00000447727	.	.	.	5.66	5.66	0.87406	.	0.422190	0.27730	N	0.018086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.7417	0.96234	0.0:0.0:1.0:0.0	.	.	.	.	X	419;375	.	ENSP00000305777:Q419X	Q	-	1	0	CSNK1G1	62251197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.278000	0.72614	2.661000	0.90470	0.655000	0.94253	CAG		0.547	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256605.1	NM_022048		38	68	0	0	0	1	0	38	68				
NBPF9	400818	broad.mit.edu	37	1	144815953	144815953	+	Missense_Mutation	SNP	A	A	G	rs199822480	byFrequency	TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:144815953A>G	ENST00000440491.2	+	4	550	c.550A>G	c.(550-552)Aat>Gat	p.N184D	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2	Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	442	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.N184D(2)		NS(2)|prostate(1)	3						CAACGATGACAATGAAGATGT	0.423													.|||	2409	0.48103	0.388	0.4496	5008	,	,		14195	0.755		0.4533	False		,,,				2504	0.3753					ENST00000440491.2																			2	Substitution - Missense(2)	p.N184D(2)	kidney(2)	NS(2)|prostate(1)	3						c.(550-552)Aat>Gat		neuroblastoma breakpoint family, member 9																																				SO:0001583	missense	400818							g.chr1:144815953A>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000440491.2:c.550A>G	1.37:g.144815953A>G	ENSP00000390934:p.Asn184Asp					NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.N184D	p.N184D	NM_001037675.2	NP_001032764.1					4	550	+									Missense_Mutation	SNP	ENST00000440491.2	37	c.550A>G		.	.	.	.	.	.	.	.	.	.	.	0.004	-2.349402	0.00219	.	.	ENSG00000168614	ENST00000338347;ENST00000440491	T;T	0.02323	4.34;4.34	0.723	0.723	0.18231	DUF1220 (1);	.	.	.	.	T	0.00328	0.0010	.	.	.	0.58432	P	1.999999999946489E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.42137	-0.9469	7	0.02654	T	1	.	3.2222	0.06720	0.3262:0.0:0.6738:0.0	.	442	Q3BBV1	NBPFK_HUMAN	D	184	ENSP00000342975:N184D;ENSP00000390934:N184D	ENSP00000342975:N184D	N	+	1	0	NBPF9	143527310	0.002000	0.14202	0.001000	0.08648	0.004000	0.04260	-1.711000	0.01886	-0.094000	0.12374	-1.032000	0.02404	AAT		0.423	NBPF9-203	KNOWN	basic	protein_coding	protein_coding		NM_001037675		4	192	0	0	0	1	0	4	192				
PPP2R5A	5525	broad.mit.edu	37	1	212515567	212515567	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:212515567C>G	ENST00000261461.2	+	4	1092	c.518C>G	c.(517-519)cCt>cGt	p.P173R	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R|PPP2R5A_ENST00000498129.2_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	173					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		TTGGAGAGCCCTGATTTCCAG	0.348																																						ENST00000261461.2																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16						c.(517-519)cCt>cGt		protein phosphatase 2, regulatory subunit B', alpha							130.0	124.0	126.0					1																	212515567		2203	4300	6503	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212515567C>G	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.518C>G	1.37:g.212515567C>G	ENSP00000261461:p.Pro173Arg					PPP2R5A_ENST00000498129.1_3'UTR|PPP2R5A_ENST00000537030.3_Missense_Mutation_p.P116R	p.P173R	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	4	1092	+			173					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.518C>G	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359211	0.82353	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.86	5.86	0.93980	Armadillo-type fold (1);	0.046304	0.85682	N	0.000000	T	0.81059	0.4744	M	0.88181	2.935	0.58432	D	0.999998	P;P	0.43314	0.803;0.803	P;P	0.49252	0.604;0.604	D	0.83591	0.0123	9	0.72032	D	0.01	-11.9491	20.1837	0.98210	0.0:1.0:0.0:0.0	.	116;173	B7Z7L2;Q15172	.;2A5A_HUMAN	R	173;173;116	.	ENSP00000261461:P173R	P	+	2	0	PPP2R5A	210582190	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.769000	0.47654	2.774000	0.95407	0.650000	0.86243	CCT		0.348	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		48	72	0	0	0	1	0	48	72				
GSX2	170825	broad.mit.edu	37	4	54966544	54966544	+	Silent	SNP	C	C	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr4:54966544C>A	ENST00000326902.2	+	1	347	c.33C>A	c.(31-33)atC>atA	p.I11I	GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	11					forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain morphogenesis (GO:0048853)|hindbrain morphogenesis (GO:0021575)|neuron fate specification (GO:0048665)|olfactory bulb interneuron differentiation (GO:0021889)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|spinal cord association neuron differentiation (GO:0021527)|subpallium neuron fate commitment (GO:0060163)|telencephalon regionalization (GO:0021978)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			ACTCGCTCATCATCAAGGACA	0.642																																						ENST00000326902.2																			0				endometrium(2)|large_intestine(2)|lung(2)	6						c.(31-33)atC>atA		GS homeobox 2							57.0	44.0	48.0					4																	54966544		2203	4299	6502	SO:0001819	synonymous_variant	170825					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:54966544C>A		CCDS3494.1	4q12	2012-03-09			ENSG00000180613	ENSG00000180613		"""Homeoboxes / ANTP class : HOXL subclass"""	24959	protein-coding gene	gene with protein product						11861295, 12205114	Standard	NM_133267		Approved	Gsh2	uc010igp.1	Q9BZM3	OTTHUMG00000128696	ENST00000326902.2:c.33C>A	4.37:g.54966544C>A						GSX2_ENST00000503800.1_Silent_p.I11I|FIP1L1_ENST00000507166.1_Intron	p.I11I	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00216)		1	347	+	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		11						Silent	SNP	ENST00000326902.2	37	c.33C>A	CCDS3494.1																																																																																				0.642	GSX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250595.1	NM_133267		3	29	1	0	0.115264	1	0.115264	3	29				
PTPRC	5788	broad.mit.edu	37	1	198713285	198713285	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:198713285A>C	ENST00000367376.2	+	26	2965	c.2794A>C	c.(2794-2796)Aaa>Caa	p.K932Q	PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	932					axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACATGAAGAAAAGGGATCC	0.378																																						ENST00000367376.2																			0				breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						c.(2794-2796)Aaa>Caa		protein tyrosine phosphatase, receptor type, C							85.0	80.0	82.0					1																	198713285		2202	4298	6500	SO:0001583	missense	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198713285A>C	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2794A>C	1.37:g.198713285A>C	ENSP00000356346:p.Lys932Gln					PTPRC_ENST00000442510.2_Missense_Mutation_p.K934Q|PTPRC_ENST00000594404.1_Missense_Mutation_p.K771Q|PTPRC_ENST00000352140.3_Missense_Mutation_p.K884Q|PTPRC_ENST00000348564.6_Missense_Mutation_p.K773Q	p.K932Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN			26	2965	+			932					A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	ENST00000367376.2	37	c.2794A>C		.	.	.	.	.	.	.	.	.	.	A	12.71	2.020906	0.35606	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	T	0.14022	2.54	5.78	5.78	0.91487	.	0.000000	0.52532	D	0.000069	T	0.08758	0.0217	N	0.17474	0.49	0.38002	D	0.934276	B;P;B	0.34462	0.264;0.454;0.264	B;B;B	0.37601	0.186;0.254;0.186	T	0.23583	-1.0184	10	0.07813	T	0.8	.	11.2273	0.48890	0.8633:0.0:0.0:0.1367	.	773;884;932	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	Q	934;884;932;771	ENSP00000193532:K884Q	ENSP00000306782:K771Q	K	+	1	0	PTPRC	196979908	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.279000	0.43435	2.199000	0.70637	0.519000	0.50382	AAA		0.378	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				15	21	0	0	0	1	0	15	21				
GPR32	2854	broad.mit.edu	37	19	51274218	51274218	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51274218G>T	ENST00000270590.4	+	1	498	c.361G>T	c.(361-363)Gtg>Ttg	p.V121L		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	121					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CATCACCTTTGTGTTCCTCAG	0.537																																					Esophageal Squamous(113;152 1581 5732 15840 44398)	ENST00000270590.4																			0				breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(361-363)Gtg>Ttg		G protein-coupled receptor 32							190.0	179.0	183.0					19																	51274218		2203	4300	6503	SO:0001583	missense	2854					integral to plasma membrane	N-formyl peptide receptor activity	g.chr19:51274218G>T	AF045764	CCDS12801.1	19q13.33	2012-08-20			ENSG00000142511	ENSG00000142511		"""GPCR / Class A : Resolvin receptors"""	4487	protein-coding gene	gene with protein product	"""resolvin D1 receptor"""	603195				9653656	Standard	NM_001506		Approved	RVDR1	uc010ycf.3	O75388		ENST00000270590.4:c.361G>T	19.37:g.51274218G>T	ENSP00000270590:p.Val121Leu						p.V121L	NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)	1	498	+		all_neural(266;0.131)	121					Q502U7|Q6NWS5	Missense_Mutation	SNP	ENST00000270590.4	37	c.361G>T	CCDS12801.1	.	.	.	.	.	.	.	.	.	.	G	3.073	-0.190597	0.06299	.	.	ENSG00000142511	ENST00000270590	T	0.36520	1.25	2.73	-2.18	0.07037	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19127	0.0459	N	0.13327	0.33	0.09310	N	1	B	0.29766	0.256	B	0.37943	0.261	T	0.33163	-0.9879	9	0.30854	T	0.27	.	1.4546	0.02382	0.1789:0.2608:0.3925:0.1678	.	121	O75388	GPR32_HUMAN	L	121	ENSP00000270590:V121L	ENSP00000270590:V121L	V	+	1	0	GPR32	55966030	0.000000	0.05858	0.163000	0.22734	0.313000	0.28021	-0.126000	0.10563	-0.064000	0.13043	0.313000	0.20887	GTG		0.537	GPR32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465016.1			36	27	1	0	4.14481e-20	1	4.34218e-20	36	27				
PLA2G4A	5321	broad.mit.edu	37	1	186925324	186925324	+	Nonsense_Mutation	SNP	C	C	G			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr1:186925324C>G	ENST00000367466.3	+	14	1579	c.1427C>G	c.(1426-1428)tCa>tGa	p.S476*	PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	476	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	GTGAGTGATTCAGCTTTATTC	0.418																																						ENST00000367466.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53						c.(1426-1428)tCa>tGa		phospholipase A2, group IVA (cytosolic, calcium-dependent)	Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)						154.0	137.0	143.0					1																	186925324		2203	4300	6503	SO:0001587	stop_gained	5321				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	g.chr1:186925324C>G	M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.1427C>G	1.37:g.186925324C>G	ENSP00000356436:p.Ser476*					PLA2G4A_ENST00000442353.2_Nonsense_Mutation_p.S416*	p.S476*	NM_024420.2	NP_077734.1	P47712	PA24A_HUMAN			14	1579	+			476			PLA2c.		B1AKG4|Q29R80	Nonsense_Mutation	SNP	ENST00000367466.3	37	c.1427C>G	CCDS1372.1	.	.	.	.	.	.	.	.	.	.	C	38	6.814899	0.97857	.	.	ENSG00000116711	ENST00000367466;ENST00000442353	.	.	.	5.45	5.45	0.79879	.	0.179711	0.49916	D	0.000129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-16.0726	14.9864	0.71351	0.0:0.8472:0.1528:0.0	.	.	.	.	X	476;416	.	ENSP00000356436:S476X	S	+	2	0	PLA2G4A	185191947	1.000000	0.71417	0.282000	0.24776	0.955000	0.61496	5.814000	0.69208	2.725000	0.93324	0.655000	0.94253	TCA		0.418	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086236.1	NM_024420		22	30	0	0	0	1	0	22	30				
MAP2K4	6416	broad.mit.edu	37	17	11998899	11998899	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr17:11998899G>A	ENST00000353533.5	+	4	464	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	MAP2K4_ENST00000415385.3_Missense_Mutation_p.R145Q|MAP2K4_ENST00000581941.1_3'UTR	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.R134Q(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		CAGAGAATTCGGTCAACAGTG	0.333			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	ENST00000415385.3				Rec	yes		17	17p11.2	6416	"""D, Mis, N"""	mitogen-activated protein kinase kinase 4			E			"""pancreatic, breast, colorectal"""		12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	p.0?(10)|p.R134Q(1)|p.?(1)	ovary(4)|breast(4)|large_intestine(2)|biliary_tract(1)|pancreas(1)	NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(433-435)cGg>cAg		mitogen-activated protein kinase kinase 4							118.0	114.0	115.0					17																	11998899		2203	4300	6503	SO:0001583	missense	6416				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:11998899G>A	L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.401G>A	17.37:g.11998899G>A	ENSP00000262445:p.Arg134Gln					MAP2K4_ENST00000353533.5_Missense_Mutation_p.R134Q	p.R145Q			P45985	MP2K4_HUMAN		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)	5	487	+		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)	134			Protein kinase.		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	ENST00000353533.5	37	c.434G>A	CCDS11162.1	.	.	.	.	.	.	.	.	.	.	G	33	5.245099	0.95272	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.65364	-0.15;-0.15	5.97	5.0	0.66597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.70124	0.3188	L	0.45352	1.415	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.996	D;D;D	0.65140	0.93;0.917;0.932	T	0.71556	-0.4557	10	0.72032	D	0.01	.	13.5397	0.61666	0.0757:0.0:0.9243:0.0	.	6;145;134	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	Q	134;145;111;6	ENSP00000262445:R134Q;ENSP00000410402:R145Q	ENSP00000262445:R134Q	R	+	2	0	MAP2K4	11939624	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.022000	0.88759	2.835000	0.97688	0.591000	0.81541	CGG		0.333	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441226.1			9	39	0	0	0	1	0	9	39				
CASR	846	broad.mit.edu	37	3	122002787	122002792	+	In_Frame_Del	DEL	CTCCAG	CTCCAG	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr3:122002787_122002792delCTCCAG	ENST00000490131.1	+	7	2358_2363	c.1986_1991delCTCCAG	c.(1984-1992)ttctccagc>ttc	p.SS663del	AC068754.1_ENST00000408547.1_RNA|CASR_ENST00000296154.5_In_Frame_Del_p.SS663del|CASR_ENST00000498619.1_In_Frame_Del_p.SS673del	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	663					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TCTGCTGCTTCTCCAGCTCCCTGTTC	0.592																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(2014-2022)ttc>tt		calcium-sensing receptor	Cinacalcet(DB01012)																																			SO:0001651	inframe_deletion	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122002787_122002792delCTCCAG	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1986_1991delCTCCAG	3.37:g.122002787_122002792delCTCCAG	ENSP00000418685:p.Ser663_Ser664del					CASR_ENST00000490131.1_In_Frame_Del_p.FSS662del|CASR_ENST00000296154.5_In_Frame_Del_p.FSS662del	p.FSS672del	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	2454_2459	+			662					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	In_Frame_Del	DEL	ENST00000490131.1	37	c.2016_2021delCTCCAG	CCDS3010.1																																																																																				0.592	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		19	58						19	58	---	---	---	---
IFNA16	3449	broad.mit.edu	37	9	21217216	21217216	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr9:21217216delT	ENST00000380216.1	-	1	94	c.89delA	c.(88-90)cacfs	p.H30fs		NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN	interferon, alpha 16	30					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		ACCCAGGCTGTGAGTCTGAGG	0.507																																						ENST00000380216.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	13						c.(88-90)ccfs		interferon, alpha 16							95.0	95.0	95.0					9																	21217216		2203	4300	6503	SO:0001589	frameshift_variant	3449				blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding	g.chr9:21217216delT		CCDS34996.1	9p22	2010-12-10			ENSG00000147885	ENSG00000147885		"""Interferons"""	5421	protein-coding gene	gene with protein product		147580				1385305	Standard	NM_002173		Approved	IFN-alphaO	uc003zor.1	P05015	OTTHUMG00000019663	ENST00000380216.1:c.89delA	9.37:g.21217216delT	ENSP00000369564:p.His30fs						p.H30fs	NM_002173.2	NP_002164.1	P05015	IFN16_HUMAN		Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)	1	94	-			30					Q5VV12	Frame_Shift_Del	DEL	ENST00000380216.1	37	c.89delA	CCDS34996.1																																																																																				0.507	IFNA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051892.1	NM_002173		42	100						42	100	---	---	---	---
IDE	3416	broad.mit.edu	37	10	94269859	94269859	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr10:94269859delT	ENST00000265986.6	-	6	901	c.845delA	c.(844-846)aatfs	p.N282fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	282					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	CAATGGAACATTTTTGTTCTC	0.318																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(844-846)atfs		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						137.0	143.0	141.0					10																	94269859		2203	4299	6502	SO:0001589	frameshift_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94269859delT	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.845delA	10.37:g.94269859delT	ENSP00000265986:p.Asn282fs						p.N282fs	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			6	901	-			282					B2R721|B7ZAU2|D3DR35|Q5T5N2	Frame_Shift_Del	DEL	ENST00000265986.6	37	c.845delA	CCDS7421.1																																																																																				0.318	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		13	62						13	62	---	---	---	---
LOC101928517	101928517	broad.mit.edu	37	19	51671586	51671587	+	RNA	DEL	GT	GT	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr19:51671586_51671587delGT	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							CCCGGAGCTGGTGTGACCACGG	0.629																																						ENST00000600074.1																			0																																																			0							g.chr19:51671586_51671587delGT																													19.37:g.51671588_51671589delGT						SIGLEC17P_ENST00000598286.1_RNA								0	493	-									RNA	DEL	ENST00000600074.1	37																																																																																						0.629	CTD-3187F8.14-001	KNOWN	basic	antisense	antisense	OTTHUMT00000465635.1			7	19						7	19	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11085863	11085864	+	RNA	INS	-	-	C			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr21:11085863_11085864insC	ENST00000470054.1	-	0	324							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		catcaccaccaccaccatcacc	0.579																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11085863_11085864insC	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11085865_11085865dupC												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	324	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.579	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		3	6						3	6	---	---	---	---
MKL1	57591	broad.mit.edu	37	22	40813046	40813046	+	Frame_Shift_Del	DEL	T	T	-			TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:40813046delT	ENST00000355630.3	-	14	2812	c.2222delA	c.(2221-2223)aatfs	p.N741fs	MKL1_ENST00000407029.1_Frame_Shift_Del_p.N741fs|MKL1_ENST00000396617.3_Frame_Shift_Del_p.N741fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.N691fs|RP5-1042K10.13_ENST00000609279.1_RNA	NM_020831.3	NP_065882.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	741	Pro-rich.				negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription via serum response element binding (GO:0010735)|smooth muscle cell differentiation (GO:0051145)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|actin monomer binding (GO:0003785)|leucine zipper domain binding (GO:0043522)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						TGAGGAACCATTTTCCTGTGG	0.517			T	RBM15	acute megakaryocytic leukemia																																	ENST00000396617.3				Dom	yes		22	22q13	57591	T	megakaryoblastic leukemia (translocation) 1			L	RBM15		acute megakaryocytic leukemia		0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						c.(2221-2223)atfs		megakaryoblastic leukemia (translocation) 1							52.0	46.0	48.0					22																	40813046		2201	4299	6500	SO:0001589	frameshift_variant	57591				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity	g.chr22:40813046delT	AB037859	CCDS14003.1, CCDS74865.1, CCDS74866.1	22q13	2008-06-12			ENSG00000196588	ENSG00000196588			14334	protein-coding gene	gene with protein product	"""megakaryocytic acute leukemia"", ""myocardin-related transcription factor A"", ""basic, SAP and coiled-coil domain"""	606078				11431691, 12019265, 14970199	Standard	XM_005261692		Approved	KIAA1438, MAL, MRTF-A, BSAC	uc003ayw.1	Q969V6	OTTHUMG00000151146	ENST00000355630.3:c.2222delA	22.37:g.40813046delT	ENSP00000347847:p.Asn741fs					MKL1_ENST00000402042.1_Frame_Shift_Del_p.N691fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.N741fs|MKL1_ENST00000355630.3_Frame_Shift_Del_p.N741fs	p.N741fs			Q969V6	MKL1_HUMAN			14	2812	-			741			Pro-rich.		Q8TCL1|Q96SC5|Q96SC6|Q9P2B0	Frame_Shift_Del	DEL	ENST00000355630.3	37	c.2222delA	CCDS14003.1																																																																																				0.517	MKL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321522.1	NM_020831		2	4						2	4	---	---	---	---
EP300-AS1	101927279	broad.mit.edu	37	22	41586192	41586192	+	RNA	DEL	C	C	-	rs76554533|rs200000207|rs397687872|rs538168962|rs60941555		TCGA-YL-A8SL-01B-21D-A377-08	TCGA-YL-A8SL-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31956c72-63ea-4756-9bbd-b80357634619	59fb4f93-39cd-4c19-8932-4e6c7609ea75	g.chr22:41586192delC	ENST00000420537.1	-	0	223																											TCTTCAAAGGCaaaaaaaaaa	0.408																																						ENST00000420537.1																			0																																																			0							g.chr22:41586192delC																													22.37:g.41586192delC														0	223	-									RNA	DEL	ENST00000420537.1	37																																																																																						0.408	RP1-85F18.5-001	KNOWN	basic	antisense	antisense	OTTHUMT00000320612.1			3	4						3	4	---	---	---	---
