#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DPH2	1802	broad.mit.edu	37	1	44435899	44435899	+	Missense_Mutation	SNP	G	G	C	rs41270389		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:44435899G>C	ENST00000255108.3	+	1	224	c.52G>C	c.(52-54)Ggg>Cgg	p.G18R	DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000412950.2_5'UTR	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	18					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				GCGAGAGACCGGGGTGCCAGG	0.647																																						ENST00000255108.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19						c.(52-54)Ggg>Cgg		DPH2 homolog (S. cerevisiae)							62.0	66.0	65.0					1																	44435899		2203	4300	6503	SO:0001583	missense	1802				peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm		g.chr1:44435899G>C	AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.52G>C	1.37:g.44435899G>C	ENSP00000255108:p.Gly18Arg		Somatic				DPH2_ENST00000396758.2_Missense_Mutation_p.G18R|DPH2_ENST00000529729.1_3'UTR|DPH2_ENST00000412950.2_5'UTR	p.G18R	NM_001384.4	NP_001375.2	WXS	Illumina GAIIx	Phase_I	Q9BQC3	DPH2_HUMAN			1	224	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	18					A8MVC9|B2RDE3|B4DNI8|O60623	Missense_Mutation	SNP	ENST00000255108.3	37	c.52G>C	CCDS504.1	.	.	.	.	.	.	.	.	.	.	G	7.924	0.739265	0.15642	.	.	ENSG00000132768	ENST00000255108;ENST00000396758	.	.	.	5.24	5.24	0.73138	.	0.234553	0.40302	N	0.001121	T	0.56441	0.1985	L	0.56769	1.78	0.37484	D	0.916095	P;D	0.60575	0.894;0.988	P;P	0.55667	0.456;0.781	T	0.56992	-0.7887	9	0.20519	T	0.43	-11.3005	7.9848	0.30205	0.0859:0.162:0.7521:0.0	.	18;18	A8MVC9;Q9BQC3	.;DPH2_HUMAN	R	18	.	ENSP00000255108:G18R	G	+	1	0	DPH2	44208486	0.947000	0.32204	0.649000	0.29536	0.130000	0.20726	2.323000	0.43823	2.608000	0.88229	0.461000	0.40582	GGG		0.647	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384		6	59	6	59	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103488491	103488491	+	Missense_Mutation	SNP	T	T	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:103488491T>C	ENST00000370096.3	-	8	1364	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R	COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000358392.2_Missense_Mutation_p.Q363R|COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	351	Nonhelical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ATTTTTCCTCTGGGAATCATA	0.338																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(1087-1089)cAg>cGg		collagen, type XI, alpha 1							64.0	65.0	65.0					1																	103488491		2203	4299	6502	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103488491T>C	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.1052A>G	1.37:g.103488491T>C	ENSP00000359114:p.Gln351Arg		Somatic				COL11A1_ENST00000353414.4_Missense_Mutation_p.Q312R|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.Q351R	p.Q363R	NM_080629.2	NP_542196.2	WXS	Illumina GAIIx	Phase_I	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	8	1405	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	351			Nonhelical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.1088A>G	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	12.13	1.846988	0.32606	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000427239	D;T;D;T	0.87966	-2.29;-0.57;-2.32;-0.6	5.67	5.67	0.87782	.	0.670897	0.14762	N	0.299917	T	0.69655	0.3135	L	0.41027	1.25	0.31674	N	0.643953	B;B;B	0.28636	0.218;0.218;0.139	B;B;B	0.22601	0.04;0.04;0.018	T	0.59731	-0.7399	10	0.16420	T	0.52	.	13.4408	0.61112	0.0:0.0:0.0:1.0	.	312;363;351	P12107-3;P12107-2;P12107	.;.;COBA1_HUMAN	R	351;363;312;363	ENSP00000359114:Q351R;ENSP00000351163:Q363R;ENSP00000302551:Q312R;ENSP00000408640:Q363R	ENSP00000302551:Q312R	Q	-	2	0	COL11A1	103261079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.542000	0.67218	2.156000	0.67533	0.523000	0.50628	CAG		0.338	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		11	55	11	55	---	---	---	---
BCAN	63827	broad.mit.edu	37	1	156618650	156618650	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:156618650C>T	ENST00000329117.5	+	6	1396	c.1060C>T	c.(1060-1062)Cga>Tga	p.R354*	BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*|RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican	354	Link 2. {ECO:0000255|PROSITE- ProRule:PRU00323}.				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hippocampus development (GO:0021766)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	carbohydrate binding (GO:0030246)|hyaluronic acid binding (GO:0005540)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTACTGCTTCCGAGGTGAGCC	0.557																																						ENST00000329117.5																			0				cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55						c.(1060-1062)Cga>Tga		brevican							72.0	74.0	74.0					1																	156618650		2202	4299	6501	SO:0001587	stop_gained	63827				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding	g.chr1:156618650C>T	BC027971	CCDS1149.1, CCDS1150.1	1q31	2013-05-07			ENSG00000132692	ENSG00000132692		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	23059	protein-coding gene	gene with protein product	"""chondroitin sulfate proteoglycan 7"", ""brevican proteoglycan"""	600347				11054543, 11873941	Standard	NM_021948		Approved	BEHAB, MGC13038, CSPG7	uc001fpp.3	Q96GW7	OTTHUMG00000033322	ENST00000329117.5:c.1060C>T	1.37:g.156618650C>T	ENSP00000331210:p.Arg354*		Somatic				RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Nonsense_Mutation_p.R354*	p.R354*	NM_021948.4	NP_068767.3	WXS	Illumina GAIIx	Phase_I	Q96GW7	PGCB_HUMAN			6	1396	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					Link 2.		D3DVC2|Q5SZ10|Q5T3I5|Q8TBB9|Q9HBK1|Q9HBK4	Nonsense_Mutation	SNP	ENST00000329117.5	37	c.1060C>T	CCDS1149.1	.	.	.	.	.	.	.	.	.	.	C	31	5.067820	0.93950	.	.	ENSG00000132692	ENST00000255029;ENST00000329117;ENST00000361588	.	.	.	4.72	-0.163	0.13363	.	0.104475	0.33631	N	0.004716	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.9409	13.4383	0.61096	0.6072:0.3928:0.0:0.0	.	.	.	.	X	295;354;354	.	ENSP00000255029:R295X	R	+	1	2	BCAN	154885274	0.907000	0.30839	1.000000	0.80357	0.993000	0.82548	0.022000	0.13511	0.143000	0.18926	0.462000	0.41574	CGA		0.557	BCAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081844.2	NM_021948		9	74	9	74	---	---	---	---
SLC9C2	284525	broad.mit.edu	37	1	173495815	173495815	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:173495815A>G	ENST00000367714.3	-	19	2774	c.2352T>C	c.(2350-2352)gcT>gcC	p.A784A	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	784					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										ATTCTTTGACAGCATCCTGTT	0.259																																						ENST00000367714.3																			0											c.(2350-2352)gcT>gcC		solute carrier family 9, member C2 (putative)							97.0	97.0	97.0					1																	173495815		2203	4300	6503	SO:0001819	synonymous_variant	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173495815A>G	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2352T>C	1.37:g.173495815A>G			Somatic				SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_3'UTR	p.A784A	NM_178527.3	NP_848622.2	WXS	Illumina GAIIx	Phase_I	Q5TAH2	S9A11_HUMAN			19	2774	-			784					Q86UF3	Silent	SNP	ENST00000367714.3	37	c.2352T>C	CCDS1308.1																																																																																				0.259	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		10	62	10	62	---	---	---	---
XPR1	9213	broad.mit.edu	37	1	180833005	180833005	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:180833005C>A	ENST00000367590.4	+	12	1861	c.1663C>A	c.(1663-1665)Caa>Aaa	p.Q555K	XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	555	EXS. {ECO:0000255|PROSITE- ProRule:PRU00712}.				G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTATACCCCCAAAAAGTATG	0.408																																						ENST00000367590.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						c.(1663-1665)Caa>Aaa		xenotropic and polytropic retrovirus receptor 1							68.0	69.0	69.0					1																	180833005		2203	4300	6503	SO:0001583	missense	9213					integral to plasma membrane	G-protein coupled receptor activity	g.chr1:180833005C>A	AF099082	CCDS1340.1, CCDS44284.1	1q25.1	2013-07-18	2010-04-23		ENSG00000143324	ENSG00000143324			12827	protein-coding gene	gene with protein product		605237	"""xenotropic and polytropic retrovirus receptor"""			9990033	Standard	NM_004736		Approved	SYG1, X3	uc001goi.3	Q9UBH6	OTTHUMG00000035116	ENST00000367590.4:c.1663C>A	1.37:g.180833005C>A	ENSP00000356562:p.Gln555Lys		Somatic				XPR1_ENST00000367589.3_Missense_Mutation_p.Q490K	p.Q555K	NM_004736.3	NP_004727.2	WXS	Illumina GAIIx	Phase_I	Q9UBH6	XPR1_HUMAN			12	1861	+			555			EXS.		O95719|Q7L8K9|Q8IW20|Q9NT19|Q9UFB9	Missense_Mutation	SNP	ENST00000367590.4	37	c.1663C>A	CCDS1340.1	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449522	0.63178	.	.	ENSG00000143324	ENST00000367590;ENST00000367589	T;T	0.39787	1.06;1.06	5.49	5.49	0.81192	EXS, C-terminal (2);	0.050624	0.85682	D	0.000000	T	0.32645	0.0836	N	0.25201	0.72	0.46044	D	0.998831	B;B	0.14438	0.01;0.004	B;B	0.15052	0.012;0.012	T	0.06499	-1.0823	10	0.22706	T	0.39	-9.5028	18.9709	0.92715	0.0:1.0:0.0:0.0	.	490;555	Q9UBH6-2;Q9UBH6	.;XPR1_HUMAN	K	555;490	ENSP00000356562:Q555K;ENSP00000356561:Q490K	ENSP00000356561:Q490K	Q	+	1	0	XPR1	179099628	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.711000	0.84669	2.577000	0.86979	0.655000	0.94253	CAA		0.408	XPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084996.2	NM_004736		4	82	4	82	---	---	---	---
C4BPA	722	broad.mit.edu	37	1	207317225	207317225	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr1:207317225G>A	ENST00000367070.3	+	11	1701	c.1507G>A	c.(1507-1509)Gag>Aag	p.E503K		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	503	Sushi 8. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TCAGTATGTTGAGCCTGAAAA	0.433																																						ENST00000367070.3																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						c.(1507-1509)Gag>Aag		complement component 4 binding protein, alpha							237.0	208.0	218.0					1																	207317225		2203	4300	6503	SO:0001583	missense	722				complement activation, classical pathway|innate immune response	extracellular region	protein binding	g.chr1:207317225G>A	M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.1507G>A	1.37:g.207317225G>A	ENSP00000356037:p.Glu503Lys		Somatic					p.E503K	NM_000715.3	NP_000706.1	WXS	Illumina GAIIx	Phase_I	P04003	C4BPA_HUMAN			11	1701	+			503			Sushi 8.		Q5VVQ8	Missense_Mutation	SNP	ENST00000367070.3	37	c.1507G>A	CCDS1477.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413416	0.62511	.	.	ENSG00000123838	ENST00000367070	T	0.65549	-0.16	5.29	2.35	0.29111	Complement control module (2);Sushi/SCR/CCP (3);	0.672868	0.13688	N	0.369728	T	0.73337	0.3574	M	0.84683	2.71	0.09310	N	1	P	0.52316	0.952	P	0.58620	0.842	T	0.60291	-0.7292	10	0.36615	T	0.2	.	6.0393	0.19726	0.1815:0.1709:0.6475:0.0	.	503	P04003	C4BPA_HUMAN	K	503	ENSP00000356037:E503K	ENSP00000356037:E503K	E	+	1	0	C4BPA	205383848	0.013000	0.17824	0.005000	0.12908	0.123000	0.20343	0.993000	0.29680	0.724000	0.32296	0.650000	0.86243	GAG		0.433	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088089.3			4	53	4	53	---	---	---	---
TTC30A	92104	broad.mit.edu	37	2	178481831	178481831	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr2:178481831A>G	ENST00000355689.5	-	1	1863	c.1599T>C	c.(1597-1599)taT>taC	p.Y533Y	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	533					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TTGGGTCATCATAAGAGAGCT	0.388																																						ENST00000355689.5																			0				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						c.(1597-1599)taT>taC		tetratricopeptide repeat domain 30A							231.0	241.0	238.0					2																	178481831		2203	4300	6503	SO:0001819	synonymous_variant	92104				cell projection organization	cilium	binding	g.chr2:178481831A>G	AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1599T>C	2.37:g.178481831A>G			Somatic				AC073834.3_ENST00000357045.4_RNA	p.Y533Y	NM_152275.3	NP_689488.3	WXS	Illumina GAIIx	Phase_I	Q86WT1	TT30A_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)		1	1863	-								A8K8N0|Q8IVP2	Silent	SNP	ENST00000355689.5	37	c.1599T>C	CCDS2276.1																																																																																				0.388	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2	NM_152275		101	172	101	172	---	---	---	---
MYLK	4638	broad.mit.edu	37	3	123452701	123452701	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:123452701G>A	ENST00000475616.1	-	7	1141	c.1142C>T	c.(1141-1143)aCc>aTc	p.T381I	MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360772.3_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I			Q15746	MYLK_HUMAN	myosin light chain kinase	381					actin filament organization (GO:0007015)|aorta smooth muscle tissue morphogenesis (GO:0060414)|bleb assembly (GO:0032060)|cellular hypotonic response (GO:0071476)|muscle contraction (GO:0006936)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cell migration (GO:0030335)|positive regulation of wound healing (GO:0090303)|protein phosphorylation (GO:0006468)|smooth muscle contraction (GO:0006939)|tonic smooth muscle contraction (GO:0014820)	cell-cell junction (GO:0005911)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|metal ion binding (GO:0046872)|myosin light chain kinase activity (GO:0004687)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GGTGGGGAAGGTGGCTGGACG	0.622																																						ENST00000360772.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113						c.(1141-1143)aCc>aTc		myosin light chain kinase							73.0	76.0	75.0					3																	123452701		2203	4300	6503	SO:0001583	missense	4638				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	g.chr3:123452701G>A	X85337	CCDS3023.1, CCDS43141.1, CCDS46896.1, CCDS46897.1, CCDS58849.1	3q21	2013-02-11	2008-01-23		ENSG00000065534	ENSG00000065534	2.7.11.18	"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7590	protein-coding gene	gene with protein product	"""smooth muscle myosin light chain kinase"""	600922	"""myosin, light polypeptide kinase"""			8575746	Standard	NM_053026		Approved	MLCK, smMLCK, MYLK1, MLCK1	uc003ego.3	Q15746	OTTHUMG00000141304	ENST00000475616.1:c.1142C>T	3.37:g.123452701G>A	ENSP00000418335:p.Thr381Ile		Somatic				MYLK_ENST00000475616.1_Missense_Mutation_p.T381I|MYLK_ENST00000359169.1_Missense_Mutation_p.T381I|MYLK_ENST00000346322.5_Missense_Mutation_p.T381I|MYLK_ENST00000360304.3_Missense_Mutation_p.T381I	p.T381I			WXS	Illumina GAIIx	Phase_I	Q15746	MYLK_HUMAN		GBM - Glioblastoma multiforme(114;0.0736)	11	1520	-		Lung NSC(201;0.0496)	381					B4DUE3|D3DN97|O95796|O95797|O95798|O95799|Q14844|Q16794|Q17S15|Q3ZCP9|Q5MY99|Q5MYA0|Q6P2N0|Q7Z4J0|Q9C0L5|Q9UBG5|Q9UBY6|Q9UIT9	Missense_Mutation	SNP	ENST00000475616.1	37	c.1142C>T	CCDS46896.1	.	.	.	.	.	.	.	.	.	.	G	16.94	3.260608	0.59431	.	.	ENSG00000065534	ENST00000360772;ENST00000360304;ENST00000359169;ENST00000346322;ENST00000475616	T;T;T;T;T	0.68025	-0.3;-0.23;-0.3;-0.29;-0.23	5.43	3.54	0.40534	.	.	.	.	.	T	0.67942	0.2947	L	0.32530	0.975	0.18873	N	0.999983	D;B;D;B;P	0.67145	0.996;0.275;0.996;0.13;0.722	D;B;D;B;B	0.63703	0.917;0.075;0.917;0.075;0.231	T	0.55579	-0.8119	9	0.22109	T	0.4	.	10.1571	0.42829	0.0:0.1473:0.6999:0.1528	.	381;381;381;381;381	Q15746-6;Q15746-4;Q15746-3;Q15746-2;Q15746	.;.;.;.;MYLK_HUMAN	I	381	ENSP00000354004:T381I;ENSP00000353452:T381I;ENSP00000352088:T381I;ENSP00000320622:T381I;ENSP00000418335:T381I	ENSP00000320622:T381I	T	-	2	0	MYLK	124935391	0.002000	0.14202	0.010000	0.14722	0.038000	0.13279	1.249000	0.32839	1.503000	0.48686	0.655000	0.94253	ACC		0.622	MYLK-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356464.1	NM_053025		5	74	5	74	---	---	---	---
EPHB1	2047	broad.mit.edu	37	3	134885817	134885817	+	Silent	SNP	C	C	T	rs369483622		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:134885817C>T	ENST00000398015.3	+	9	2098	c.1728C>T	c.(1726-1728)agC>agT	p.S576S	EPHB1_ENST00000493838.1_Silent_p.S137S	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	576					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|camera-type eye morphogenesis (GO:0048593)|cell chemotaxis (GO:0060326)|cell-substrate adhesion (GO:0031589)|central nervous system projection neuron axonogenesis (GO:0021952)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|neural precursor cell proliferation (GO:0061351)|neurogenesis (GO:0022008)|optic nerve morphogenesis (GO:0021631)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of JNK cascade (GO:0046328)|retinal ganglion cell axon guidance (GO:0031290)	axon (GO:0030424)|early endosome membrane (GO:0031901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTGTGTACAGCGATAAGCTCC	0.552																																						ENST00000398015.3																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						c.(1726-1728)agC>agT		EPH receptor B1		C		0,3834		0,0,1917	144.0	151.0	149.0		1728	-2.5	1.0	3		149	2,8272		0,2,4135	no	coding-synonymous	EPHB1	NM_004441.4		0,2,6052	TT,TC,CC		0.0242,0.0,0.0165		576/985	134885817	2,12106	1917	4137	6054	SO:0001819	synonymous_variant	2047					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	g.chr3:134885817C>T	L40636	CCDS46921.1	3q21-q23	2013-02-11	2004-10-28			ENSG00000154928		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3392	protein-coding gene	gene with protein product		600600	"""EphB1"""	EPHT2		8666391	Standard	NM_004441		Approved	Hek6	uc003eqt.3	P54762		ENST00000398015.3:c.1728C>T	3.37:g.134885817C>T			Somatic				EPHB1_ENST00000493838.1_Silent_p.S137S	p.S576S	NM_004441.4	NP_004432.1	WXS	Illumina GAIIx	Phase_I	P54762	EPHB1_HUMAN			9	2098	+			576					A8K593|B3KTB2|B5A969|O43569|O95142|O95143|Q0VG87	Silent	SNP	ENST00000398015.3	37	c.1728C>T	CCDS46921.1																																																																																				0.552	EPHB1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357671.1	NM_004441		7	178	7	178	---	---	---	---
PPEF2	5470	broad.mit.edu	37	4	76811139	76811139	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr4:76811139C>A	ENST00000286719.7	-	5	744	c.388G>T	c.(388-390)Gcc>Tcc	p.A130S	PPEF2_ENST00000510607.1_5'Flank	NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	130	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|protein dephosphorylation (GO:0006470)|regulation of JUN kinase activity (GO:0043506)|regulation of MAP kinase activity (GO:0043405)|visual perception (GO:0007601)	cilium (GO:0005929)|cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|Hsp70 protein binding (GO:0030544)|Hsp90 protein binding (GO:0051879)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTACCAGGGCAGTTGCATGG	0.527																																					NSCLC(105;1359 1603 15961 44567 47947)	ENST00000286719.7																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						c.(388-390)Gcc>Tcc		protein phosphatase, EF-hand calcium binding domain 2							217.0	193.0	202.0					4																	76811139		2203	4300	6503	SO:0001583	missense	5470				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity	g.chr4:76811139C>A	AF023456	CCDS34013.1	4q21.1	2013-01-10			ENSG00000156194	ENSG00000156194		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9244	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, beta isozyme"""	602256				9326663, 12051765	Standard	NM_006239		Approved	PPP7CB	uc003hix.3	O14830	OTTHUMG00000160915	ENST00000286719.7:c.388G>T	4.37:g.76811139C>A	ENSP00000286719:p.Ala130Ser		Somatic					p.A130S	NM_006239.2	NP_006230.2	WXS	Illumina GAIIx	Phase_I	O14830	PPE2_HUMAN	Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)		5	744	-			130			Catalytic.		O14831	Missense_Mutation	SNP	ENST00000286719.7	37	c.388G>T	CCDS34013.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.115689	0.77323	.	.	ENSG00000156194	ENST00000286719;ENST00000337500	T	0.42513	0.97	4.8	4.8	0.61643	Serine/threonine phosphatase, PPP5 (1);	0.269740	0.37809	N	0.001922	T	0.61739	0.2371	M	0.75447	2.3	0.50313	D	0.999869	D;D	0.89917	0.981;1.0	P;D	0.87578	0.813;0.998	T	0.58934	-0.7548	10	0.15499	T	0.54	-3.4223	15.3613	0.74478	0.0:1.0:0.0:0.0	.	130;130	O14830-2;O14830	.;PPE2_HUMAN	S	130	ENSP00000286719:A130S	ENSP00000286719:A130S	A	-	1	0	PPEF2	77030163	1.000000	0.71417	1.000000	0.80357	0.664000	0.39144	4.259000	0.58828	2.227000	0.72691	0.313000	0.20887	GCC		0.527	PPEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362929.1	NM_006239		7	120	7	120	---	---	---	---
PCDHA12	56137	broad.mit.edu	37	5	140256502	140256502	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:140256502C>T	ENST00000398631.2	+	1	1445	c.1445C>T	c.(1444-1446)gCg>gTg	p.A482V	PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	482	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCATGGGACGCGGACGCGCAG	0.662																																					Pancreas(113;759 1672 13322 24104 50104)	ENST00000398631.2																			0				NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						c.(1444-1446)gCg>gTg									82.0	84.0	83.0					5																	140256502		2203	4300	6503	SO:0001583	missense	56137							g.chr5:140256502C>T	AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1445C>T	5.37:g.140256502C>T	ENSP00000381628:p.Ala482Val		Somatic				PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	p.A482V	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	WXS	Illumina GAIIx	Phase_I			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1445	+								O75278|Q2M1N8	Missense_Mutation	SNP	ENST00000398631.2	37	c.1445C>T	CCDS47285.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.231262	0.79688	.	.	ENSG00000251664	ENST00000398631	T	0.01228	5.14	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.03011	0.0089	L	0.38649	1.16	0.33090	D	0.537793	P;P	0.38167	0.568;0.621	B;B	0.43478	0.133;0.421	T	0.37267	-0.9713	9	0.72032	D	0.01	.	18.8361	0.92164	0.0:1.0:0.0:0.0	.	482;482	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	V	482	ENSP00000381628:A482V	ENSP00000381628:A482V	A	+	2	0	PCDHA12	140236686	0.000000	0.05858	1.000000	0.80357	0.981000	0.71138	0.878000	0.28126	2.452000	0.82932	0.650000	0.86243	GCG		0.662	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372882.2	NM_018903		5	98	5	98	---	---	---	---
HDAC3	8841	broad.mit.edu	37	5	141005788	141005788	+	Missense_Mutation	SNP	T	T	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr5:141005788T>G	ENST00000305264.3	-	11	972	c.893A>C	c.(892-894)tAt>tCt	p.Y298S	HDAC3_ENST00000469207.1_5'Flank|AC008781.7_ENST00000422040.2_RNA	NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	298	Histone deacetylase.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle (GO:0045786)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|protein deacetylation (GO:0006476)|regulation of mitotic cell cycle (GO:0007346)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|cyclin binding (GO:0030332)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	TCGGACAGTATAACCACCACC	0.512																																						ENST00000305264.3																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13						c.(892-894)tAt>tCt		histone deacetylase 3	Vorinostat(DB02546)						155.0	118.0	131.0					5																	141005788		2203	4300	6503	SO:0001583	missense	8841				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding	g.chr5:141005788T>G	AF059650	CCDS4264.1	5q31.1-q31.2	2008-07-18			ENSG00000171720	ENSG00000171720	3.5.1.98		4854	protein-coding gene	gene with protein product		605166				9501169, 9464271	Standard	NM_003883		Approved	RPD3, HD3, RPD3-2	uc003llf.2	O15379	OTTHUMG00000129629	ENST00000305264.3:c.893A>C	5.37:g.141005788T>G	ENSP00000302967:p.Tyr298Ser		Somatic				AC008781.7_ENST00000422040.2_RNA	p.Y298S	NM_003883.3	NP_003874.2	WXS	Illumina GAIIx	Phase_I	O15379	HDAC3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		11	972	-			298			Histone deacetylase.		D3DQE1|O43268|Q9UEI5|Q9UEV0	Missense_Mutation	SNP	ENST00000305264.3	37	c.893A>C	CCDS4264.1	.	.	.	.	.	.	.	.	.	.	T	28.7	4.945874	0.92593	.	.	ENSG00000171720	ENST00000305264;ENST00000523353	D;D	0.91124	-2.79;-2.79	5.65	5.65	0.86999	Histone deacetylase domain (2);	0.000000	0.85682	D	0.000000	D	0.97244	0.9099	H	0.98218	4.175	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98660	1.0683	10	0.87932	D	0	-19.8183	15.6986	0.77521	0.0:0.0:0.0:1.0	.	298	O15379	HDAC3_HUMAN	S	298;107	ENSP00000302967:Y298S;ENSP00000430667:Y107S	ENSP00000302967:Y298S	Y	-	2	0	HDAC3	140985972	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.868000	0.87116	2.371000	0.80710	0.533000	0.62120	TAT		0.512	HDAC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251824.2	NM_003883		15	24	15	24	---	---	---	---
KIF13A	63971	broad.mit.edu	37	6	17779890	17779890	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:17779890C>T	ENST00000259711.6	-	32	3977	c.3872G>A	c.(3871-3873)aGa>aAa	p.R1291K	KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378814.5_Missense_Mutation_p.R1278K	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1291					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGGGATATTCTCCTCTTCAA	0.299																																						ENST00000378814.5																			0				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64						c.(3832-3834)aGa>aAa		kinesin family member 13A							33.0	35.0	35.0					6																	17779890		1808	4067	5875	SO:0001583	missense	63971				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding	g.chr6:17779890C>T	AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.3872G>A	6.37:g.17779890C>T	ENSP00000259711:p.Arg1291Lys		Somatic				KIF13A_ENST00000259711.6_Missense_Mutation_p.R1291K|KIF13A_ENST00000378826.2_Missense_Mutation_p.R1291K|KIF13A_ENST00000378843.2_Missense_Mutation_p.R1278K|KIF13A_ENST00000378816.5_Missense_Mutation_p.R1291K	p.R1278K	NM_001105568.2	NP_001099038.1	WXS	Illumina GAIIx	Phase_I	Q9H1H9	KI13A_HUMAN	all cancers(50;0.0865)|Epithelial(50;0.0974)		31	3832	-	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	1291					A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	c.3833G>A	CCDS47381.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.19|19.19	3.779601|3.779601	0.70107|0.70107	.|.	.|.	ENSG00000137177|ENSG00000137177	ENST00000358380|ENST00000378814;ENST00000502297;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	.|T;T;T;T;T;T	.|0.70869	.|-0.49;1.89;-0.52;-0.48;-0.49;-0.48	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.49253|0.49253	0.1546|0.1546	L|L	0.39514|0.39514	1.22|1.22	0.58432|0.58432	D|D	0.999992|0.999992	.|B;B;B;P	.|0.34412	.|0.144;0.28;0.089;0.453	.|B;B;B;B	.|0.36186	.|0.219;0.13;0.034;0.172	T|T	0.56019|0.56019	-0.8048|-0.8048	5|10	.|0.06891	.|T	.|0.86	.|.	19.7743|19.7743	0.96385|0.96385	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1278;1291;1291;1278	.|Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.|.;.;KI13A_HUMAN;.	K|K	685|1278;295;1291;1291;1278;1291	.|ENSP00000368091:R1278K;ENSP00000425616:R295K;ENSP00000259711:R1291K;ENSP00000368103:R1291K;ENSP00000368120:R1278K;ENSP00000368093:R1291K	.|ENSP00000259711:R1291K	E|R	-|-	1|2	0|0	KIF13A|KIF13A	17887869|17887869	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.973000|0.973000	0.67179|0.67179	7.294000|7.294000	0.78760|0.78760	2.663000|2.663000	0.90544|0.90544	0.557000|0.557000	0.71058|0.71058	GAA|AGA		0.299	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			13	30	13	30	---	---	---	---
HIST1H4A	8359	broad.mit.edu	37	6	26022184	26022184	+	Missense_Mutation	SNP	G	G	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:26022184G>T	ENST00000359907.3	+	1	278	c.278G>T	c.(277-279)cGc>cTc	p.R93L		NM_003538.3	NP_003529.1	P62805	H4_HUMAN	histone cluster 1, H4a	93					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|skin(1)	2						GCGCTTAAGCGCCAGGGACGC	0.537																																						ENST00000359907.3																			0				large_intestine(1)|skin(1)	2						c.(277-279)cGc>cTc		histone cluster 1, H4a							92.0	80.0	85.0					6																	26022184		2203	4300	6503	SO:0001583	missense	8359				CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr6:26022184G>T	X60481	CCDS4571.1	6p22.1	2011-01-27	2006-10-11	2003-03-07	ENSG00000196176	ENSG00000278637		"""Histones / Replication-dependent"""	4781	protein-coding gene	gene with protein product		602822	"""H4 histone family, member A"", ""histone 1, H4a"""	H4FA		9119399, 12408966	Standard	NM_003538		Approved		uc003nfq.3	P62805	OTTHUMG00000014419	ENST00000359907.3:c.278G>T	6.37:g.26022184G>T	ENSP00000352980:p.Arg93Leu		Somatic					p.R93L	NM_003538.3	NP_003529.1	WXS	Illumina GAIIx	Phase_I	P62805	H4_HUMAN			1	278	+			93					A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Missense_Mutation	SNP	ENST00000359907.3	37	c.278G>T	CCDS4571.1	.	.	.	.	.	.	.	.	.	.	g	21.7	4.185406	0.78677	.	.	ENSG00000196176	ENST00000359907	T	0.63255	-0.03	3.97	3.97	0.46021	.	.	.	.	.	T	0.63604	0.2525	.	.	.	0.43569	D	0.995891	.	.	.	.	.	.	T	0.64292	-0.6442	5	.	.	.	.	15.9333	0.79683	0.0:0.0:1.0:0.0	.	.	.	.	L	93	ENSP00000352980:R93L	.	R	+	2	0	HIST1H4A	26130163	1.000000	0.71417	1.000000	0.80357	0.266000	0.26442	7.661000	0.83786	2.134000	0.65973	0.655000	0.94253	CGC		0.537	HIST1H4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040081.1	NM_003538		5	71	5	71	---	---	---	---
UTRN	7402	broad.mit.edu	37	6	145157535	145157535	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:145157535C>T	ENST00000367545.3	+	70	9923	c.9923C>T	c.(9922-9924)aCg>aTg	p.T3308M	UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3308					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCCATCACACGTCTGAGGAT	0.502																																						ENST00000367545.3																			0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148						c.(9922-9924)aCg>aTg		utrophin							104.0	106.0	105.0					6																	145157535		2203	4300	6503	SO:0001583	missense	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145157535C>T	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.9923C>T	6.37:g.145157535C>T	ENSP00000356515:p.Thr3308Met		Somatic				UTRN_ENST00000367526.4_Missense_Mutation_p.T863M	p.T3308M	NM_007124.2	NP_009055.2	WXS	Illumina GAIIx	Phase_I	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	70	9923	+		Ovarian(120;0.218)	3308					Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.9923C>T	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	11.57	1.676677	0.29783	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.60920	0.15;3.46	5.91	5.04	0.67666	.	0.114707	0.39341	N	0.001393	T	0.20047	0.0482	N	0.08118	0	0.26693	N	0.971315	P	0.46020	0.871	B	0.39503	0.301	T	0.10268	-1.0637	10	0.59425	D	0.04	.	9.4248	0.38572	0.1439:0.7848:0.0:0.0713	.	3308	P46939	UTRO_HUMAN	M	3308;863	ENSP00000356515:T3308M;ENSP00000356496:T863M	ENSP00000356496:T863M	T	+	2	0	UTRN	145199228	0.849000	0.29639	0.932000	0.37286	0.321000	0.28281	1.096000	0.30976	2.813000	0.96785	0.655000	0.94253	ACG		0.502	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			13	153	13	153	---	---	---	---
TIAM2	26230	broad.mit.edu	37	6	155500568	155500568	+	Silent	SNP	G	G	A	rs199773084		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr6:155500568G>A	ENST00000461783.3	+	14	3958	c.2685G>A	c.(2683-2685)aaG>aaA	p.K895K	TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000456144.1_Silent_p.K895K|TIAM2_ENST00000360366.4_Silent_p.K919K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	895	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGCTCACGAAGACTGGGAGTG	0.413																																						ENST00000461783.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(2683-2685)aaG>aaA		T-cell lymphoma invasion and metastasis 2							283.0	276.0	279.0					6																	155500568		2203	4300	6503	SO:0001819	synonymous_variant	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	g.chr6:155500568G>A		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.2685G>A	6.37:g.155500568G>A			Somatic				TIAM2_ENST00000528391.2_Silent_p.K231K|TIAM2_ENST00000367174.2_Silent_p.K271K|TIAM2_ENST00000360366.4_Silent_p.K919K|TIAM2_ENST00000529824.2_Silent_p.K895K|TIAM2_ENST00000456877.2_Silent_p.K207K|TIAM2_ENST00000318981.5_Silent_p.K895K|TIAM2_ENST00000456144.1_Silent_p.K895K	p.K895K			WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	14	3958	+		Ovarian(120;0.196)	895			PDZ.		B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Silent	SNP	ENST00000461783.3	37	c.2685G>A	CCDS34558.1																																																																																				0.413	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		34	79	34	79	---	---	---	---
ELN	2006	broad.mit.edu	37	7	73456962	73456962	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr7:73456962C>A	ENST00000252034.7	+	6	650	c.251C>A	c.(250-252)gCa>gAa	p.A84E	ELN_ENST00000445912.1_Missense_Mutation_p.A84E|ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000380576.5_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000414324.1_Missense_Mutation_p.A74E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	84					blood circulation (GO:0008015)|blood vessel remodeling (GO:0001974)|cell proliferation (GO:0008283)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|organ morphogenesis (GO:0009887)|regulation of actin filament polymerization (GO:0030833)|respiratory gaseous exchange (GO:0007585)|skeletal muscle tissue development (GO:0007519)|stress fiber assembly (GO:0043149)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)				GCCTTCCCCGCAGTTACCTTT	0.637			T	PAX5	B-ALL		"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""																															ENST00000252034.7				Dom	yes		7	7q11.23	2006	T	elastin	yes	"""Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"""	L	PAX5		B-ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32						c.(250-252)gCa>gAa		elastin	Rofecoxib(DB00533)						62.0	63.0	62.0					7																	73456962		2203	4300	6503	SO:0001583	missense	2006				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	g.chr7:73456962C>A		CCDS5562.2, CCDS43598.1, CCDS43599.1, CCDS47611.1, CCDS47612.1, CCDS64673.1, CCDS64674.1, CCDS64675.1, CCDS64676.1, CCDS64677.1, CCDS64678.1, CCDS75616.1, CCDS75617.1	7q11.1-q21.1	2008-08-01	2008-08-01		ENSG00000049540	ENSG00000049540			3327	protein-coding gene	gene with protein product	"""tropoelastin"", ""supravalvular aortic stenosis"", ""Williams-Beuren syndrome"""	130160				8096434	Standard	NM_001278939		Approved	WBS, WS, SVAS	uc003tzn.3	P15502	OTTHUMG00000150229	ENST00000252034.7:c.251C>A	7.37:g.73456962C>A	ENSP00000252034:p.Ala84Glu		Somatic				ELN_ENST00000320492.7_Missense_Mutation_p.A72E|ELN_ENST00000380553.4_Intron|ELN_ENST00000380576.5_Missense_Mutation_p.A84E|ELN_ENST00000380575.4_Missense_Mutation_p.A74E|ELN_ENST00000358929.4_Missense_Mutation_p.A84E|ELN_ENST00000380562.4_Missense_Mutation_p.A84E|ELN_ENST00000320399.6_Missense_Mutation_p.A84E|ELN_ENST00000458204.1_Missense_Mutation_p.A74E|ELN_ENST00000357036.5_Missense_Mutation_p.A84E|ELN_ENST00000380584.4_Missense_Mutation_p.A84E|ELN_ENST00000429192.1_Missense_Mutation_p.A84E|ELN_ENST00000414324.1_Missense_Mutation_p.A74E|ELN_ENST00000445912.1_Missense_Mutation_p.A84E	p.A84E	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	WXS	Illumina GAIIx	Phase_I	P15502	ELN_HUMAN			6	650	+		Lung NSC(55;0.159)	84					B3KTS6|O15336|O15337|Q14233|Q14234|Q14235|Q14238|Q6P0L4|Q6ZWJ6|Q75MU5|Q7Z316|Q7Z3F5|Q9UMF5	Missense_Mutation	SNP	ENST00000252034.7	37	c.251C>A	CCDS5562.2	.	.	.	.	.	.	.	.	.	.	C	12.33	1.904789	0.33628	.	.	ENSG00000049540	ENST00000445912;ENST00000252034;ENST00000358929;ENST00000431562;ENST00000320492;ENST00000438906;ENST00000414324;ENST00000380562;ENST00000380575;ENST00000380584;ENST00000458204;ENST00000357036;ENST00000417091;ENST00000429192;ENST00000442310;ENST00000380576;ENST00000428787;ENST00000320399	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.48836	1.18;1.19;1.16;1.37;0.8;1.23;1.19;1.2;1.21;1.2;1.19;1.18;1.2;1.17	3.92	-2.38	0.06622	.	.	.	.	.	T	0.33990	0.0882	L	0.51422	1.61	0.09310	N	1	P;P;P;P;P;P;P;P;P;P;P;P	0.36535	0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557;0.557	B;B;B;B;B;B;B;B;B;B;B;B	0.30572	0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117;0.117	T	0.16482	-1.0401	9	0.27785	T	0.31	-0.4892	9.288	0.37769	0.0:0.2476:0.6469:0.1055	.	84;72;74;74;84;74;84;84;84;74;84;84	E7ENM0;G5E950;G3V0G6;E7EN65;P15502-1;P15502-7;P15502-12;P15502-5;P15502-13;B3KRT8;P15502-8;P15502-2	.;.;.;.;.;.;.;.;.;.;.;.	E	84;84;84;62;72;72;74;84;74;84;74;84;84;84;84;84;84;84	ENSP00000389857:A84E;ENSP00000252034:A84E;ENSP00000351807:A84E;ENSP00000315607:A72E;ENSP00000406949:A72E;ENSP00000392575:A74E;ENSP00000369936:A84E;ENSP00000369949:A74E;ENSP00000369958:A84E;ENSP00000403162:A74E;ENSP00000349540:A84E;ENSP00000391129:A84E;ENSP00000369950:A84E;ENSP00000313565:A84E	ENSP00000252034:A84E	A	+	2	0	ELN	73094898	0.028000	0.19301	0.003000	0.11579	0.022000	0.10575	0.107000	0.15375	-0.286000	0.09076	0.462000	0.41574	GCA		0.637	ELN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316913.1	NM_000501		10	52	10	52	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56257968	56257968	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56257968A>C	ENST00000327216.2	-	1	903	c.879T>G	c.(877-879)aaT>aaG	p.N293K		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTACATTTTTATTTCTAAGGC	0.328																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(877-879)aaT>aaG		olfactory receptor, family 5, subfamily M, member 8							38.0	43.0	42.0					11																	56257968		2200	4293	6493	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56257968A>C	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.879T>G	11.37:g.56257968A>C	ENSP00000323354:p.Asn293Lys		Somatic					p.N293K	NM_001005282.1	NP_001005282.1	WXS	Illumina GAIIx	Phase_I	Q8NGP6	OR5M8_HUMAN			1	903	-	Esophageal squamous(21;0.00352)		293					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.879T>G	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	A	5.459	0.269831	0.10349	.	.	ENSG00000181371	ENST00000327216	T	0.50001	0.76	4.35	-3.65	0.04502	.	0.000000	0.35096	U	0.003442	T	0.58708	0.2141	H	0.96943	3.91	0.09310	N	1	P	0.39847	0.691	B	0.40228	0.323	T	0.63427	-0.6640	10	0.87932	D	0	-16.2852	11.7121	0.51630	0.4609:0.0:0.5391:0.0	.	293	Q8NGP6	OR5M8_HUMAN	K	293	ENSP00000323354:N293K	ENSP00000323354:N293K	N	-	3	2	OR5M8	56014544	0.000000	0.05858	0.354000	0.25760	0.008000	0.06430	-0.578000	0.05841	-0.671000	0.05274	-0.281000	0.10026	AAT		0.328	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		17	30	17	30	---	---	---	---
OR5M8	219484	broad.mit.edu	37	11	56258436	56258436	+	Missense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr11:56258436C>A	ENST00000327216.2	-	1	435	c.411G>T	c.(409-411)aaG>aaT	p.K137N		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	137						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGCACACACTCTTGGACATTC	0.542																																						ENST00000327216.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(409-411)aaG>aaT		olfactory receptor, family 5, subfamily M, member 8							96.0	82.0	87.0					11																	56258436		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258436C>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.411G>T	11.37:g.56258436C>A	ENSP00000323354:p.Lys137Asn		Somatic					p.K137N	NM_001005282.1	NP_001005282.1	WXS	Illumina GAIIx	Phase_I	Q8NGP6	OR5M8_HUMAN			1	435	-	Esophageal squamous(21;0.00352)		137					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.411G>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	C	5.180	0.218748	0.09810	.	.	ENSG00000181371	ENST00000327216	T	0.21361	2.01	4.41	1.38	0.22167	GPCR, rhodopsin-like superfamily (1);	1.041630	0.07656	N	0.932768	T	0.16428	0.0395	L	0.39514	1.22	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.32348	-0.9910	10	0.30078	T	0.28	-6.4481	5.8521	0.18699	0.1584:0.6557:0.0:0.1858	.	137	Q8NGP6	OR5M8_HUMAN	N	137	ENSP00000323354:K137N	ENSP00000323354:K137N	K	-	3	2	OR5M8	56015012	0.000000	0.05858	0.001000	0.08648	0.047000	0.14425	-2.426000	0.01027	0.408000	0.25621	0.638000	0.83543	AAG		0.542	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	NM_001005282		21	34	21	34	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34528968	34528968	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:34528968C>A	ENST00000354181.3	-	23	3475	c.2983G>T	c.(2983-2985)Gaa>Taa	p.E995*	SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	995					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GACCTTTGTTCCATCATCAAA	0.458																																						ENST00000354181.3																			0				central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45						c.(2983-2985)Gaa>Taa		solute carrier family 12 (potassium/chloride transporter), member 6	Potassium Chloride(DB00761)						221.0	190.0	200.0					15																	34528968		2201	4298	6499	SO:0001587	stop_gained	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34528968C>A	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2983G>T	15.37:g.34528968C>A	ENSP00000346112:p.Glu995*		Somatic				SLC12A6_ENST00000397702.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558589.1_Nonsense_Mutation_p.E986*|SLC12A6_ENST00000458406.2_Nonsense_Mutation_p.E936*|SLC12A6_ENST00000558667.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560611.1_Nonsense_Mutation_p.E995*|SLC12A6_ENST00000560164.1_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000451844.2_Nonsense_Mutation_p.E807*|SLC12A6_ENST00000290209.5_Nonsense_Mutation_p.E944*|SLC12A6_ENST00000397707.2_Nonsense_Mutation_p.E980*	p.E995*			WXS	Illumina GAIIx	Phase_I	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	23	3475	-		all_lung(180;2.78e-08)	995					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Nonsense_Mutation	SNP	ENST00000354181.3	37	c.2983G>T	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	C	42	9.391632	0.99158	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	.	.	.	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	17.5803	0.87965	0.0:1.0:0.0:0.0	.	.	.	.	X	944;980;986;936;936;807	.	ENSP00000290209:E944X	E	-	1	0	SLC12A6	32316260	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	7.651000	0.83577	2.692000	0.91855	0.650000	0.86243	GAA		0.458	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		13	71	13	71	---	---	---	---
BNC1	646	broad.mit.edu	37	15	83935780	83935780	+	Silent	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr15:83935780C>T	ENST00000345382.2	-	3	328	c.243G>A	c.(241-243)caG>caA	p.Q81Q	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.Q74Q	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	81					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						CAATCTCCACCTGGCTTGTTG	0.443																																						ENST00000345382.2																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						c.(241-243)caG>caA		basonuclin 1							64.0	62.0	63.0					15																	83935780		2203	4300	6503	SO:0001819	synonymous_variant	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935780C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.243G>A	15.37:g.83935780C>T			Somatic				BNC1_ENST00000569704.1_Silent_p.Q74Q|RP11-382A20.4_ENST00000565495.1_RNA	p.Q81Q	NM_001717.3	NP_001708.3	WXS	Illumina GAIIx	Phase_I	Q01954	BNC1_HUMAN			3	328	-			81					Q15840	Silent	SNP	ENST00000345382.2	37	c.243G>A	CCDS10324.1																																																																																				0.443	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717		5	41	5	41	---	---	---	---
NUPR1	26471	broad.mit.edu	37	16	28549403	28549403	+	Silent	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr16:28549403G>A	ENST00000324873.6	-	2	452	c.186C>T	c.(184-186)caC>caT	p.H62H	NUPR1_ENST00000395641.2_Silent_p.H80H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	62					acute inflammatory response (GO:0002526)|cell growth (GO:0016049)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male gonad development (GO:0008584)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast proliferation (GO:0048147)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein modification process (GO:0031401)|protein acetylation (GO:0006473)|protein complex assembly (GO:0006461)|regulation of female gonad development (GO:2000194)|regulation of transcription, DNA-templated (GO:0006355)|response to toxic substance (GO:0009636)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(1)|large_intestine(1)|lung(1)	3						GTTTCCTCTCGTGCCCGCCAG	0.622																																						ENST00000324873.6																			0				breast(1)|large_intestine(1)|lung(1)	3						c.(184-186)caC>caT		nuclear protein, transcriptional regulator, 1							123.0	139.0	134.0					16																	28549403		2197	4300	6497	SO:0001819	synonymous_variant	26471				cell growth|induction of apoptosis	nucleus		g.chr16:28549403G>A	AF069073	CCDS10634.1, CCDS42137.1	16p11.2	2012-07-04	2012-07-04		ENSG00000176046	ENSG00000176046			29990	protein-coding gene	gene with protein product	"""candidate of metastasis 1"""	614812				9405444, 10493524, 10092851	Standard	NM_012385		Approved	COM1, p8	uc002dqd.1	O60356	OTTHUMG00000131764	ENST00000324873.6:c.186C>T	16.37:g.28549403G>A			Somatic				NUPR1_ENST00000395641.2_Silent_p.H80H	p.H62H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	WXS	Illumina GAIIx	Phase_I	O60356	NUPR1_HUMAN			2	452	-			62					B2R5C4|O60357|Q6FGG3	Silent	SNP	ENST00000324873.6	37	c.186C>T	CCDS10634.1																																																																																				0.622	NUPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254692.2	NM_012385		49	73	49	73	---	---	---	---
TMEM199	147007	broad.mit.edu	37	17	26687568	26687568	+	Missense_Mutation	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:26687568G>A	ENST00000292114.3	+	4	482	c.392G>A	c.(391-393)gGg>gAg	p.G131E	TMEM199_ENST00000395404.3_5'UTR|MIR4723_ENST00000585070.1_RNA|TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.3_ENST00000591482.1_RNA|CTB-96E2.7_ENST00000577850.1_RNA	NM_152464.1	NP_689677.1	Q8N511	TM199_HUMAN	transmembrane protein 199	131						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6	all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		AGACATGGTGGGACTCTCAGC	0.468																																						ENST00000292114.3																			0				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						c.(391-393)gGg>gAg		transmembrane protein 199							109.0	99.0	103.0					17																	26687568		2203	4300	6503	SO:0001583	missense	147007					integral to membrane		g.chr17:26687568G>A	AY074907	CCDS11228.1	17q11.2	2007-12-17	2007-12-17	2007-12-17	ENSG00000244045	ENSG00000244045			18085	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 32"""	C17orf32			Standard	NM_152464		Approved	MGC45714	uc002hba.3	Q8N511	OTTHUMG00000132498	ENST00000292114.3:c.392G>A	17.37:g.26687568G>A	ENSP00000292114:p.Gly131Glu		Somatic				TMEM199_ENST00000509083.1_Missense_Mutation_p.G131E|CTB-96E2.3_ENST00000591482.1_RNA|TMEM199_ENST00000395404.3_5'UTR	p.G131E	NM_152464.1	NP_689677.1	WXS	Illumina GAIIx	Phase_I	Q8N511	TM199_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	4	482	+	all_lung(13;0.000354)|Lung NSC(42;0.00115)		131						Missense_Mutation	SNP	ENST00000292114.3	37	c.392G>A	CCDS11228.1	.	.	.	.	.	.	.	.	.	.	G	15.67	2.901999	0.52227	.	.	ENSG00000244045	ENST00000292114;ENST00000509083;ENST00000395404	T;T	0.27402	1.67;1.67	5.85	2.71	0.32032	.	0.089556	0.85682	N	0.000000	T	0.32102	0.0818	L	0.38838	1.175	0.58432	D	0.999993	D;P	0.57899	0.981;0.751	P;B	0.58077	0.832;0.327	T	0.09271	-1.0682	10	0.09843	T	0.71	-6.543	9.1618	0.37028	0.075:0.2767:0.6483:0.0	.	131;131	E9PBQ3;Q8N511	.;TM199_HUMAN	E	131;131;49	ENSP00000292114:G131E;ENSP00000427614:G131E	ENSP00000292114:G131E	G	+	2	0	TMEM199	23711695	1.000000	0.71417	0.958000	0.39756	0.529000	0.34654	2.656000	0.46716	0.353000	0.24079	-0.140000	0.14226	GGG		0.468	TMEM199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255676.2	NM_152464		7	26	7	26	---	---	---	---
CPD	1362	broad.mit.edu	37	17	28748781	28748781	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:28748781A>C	ENST00000225719.4	+	4	1313	c.1237A>C	c.(1237-1239)Aca>Cca	p.T413P	CPD_ENST00000543464.2_Missense_Mutation_p.T166P	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	413	Carboxypeptidase-like 1.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metallocarboxypeptidase activity (GO:0004181)|serine-type carboxypeptidase activity (GO:0004185)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						TAATATCACAACAGGCAGATT	0.368																																						ENST00000225719.4																			0				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						c.(1237-1239)Aca>Cca		carboxypeptidase D							148.0	143.0	145.0					17																	28748781		2203	4300	6503	SO:0001583	missense	1362				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding	g.chr17:28748781A>C	U65090	CCDS11257.1, CCDS56025.1	17q11.2	2012-02-10			ENSG00000108582	ENSG00000108582	3.4.17.22		2301	protein-coding gene	gene with protein product	"""metallocarboxypeptidase D"""	603102				9628828, 9355738	Standard	NM_001304		Approved	GP180	uc002hfb.2	O75976	OTTHUMG00000132797	ENST00000225719.4:c.1237A>C	17.37:g.28748781A>C	ENSP00000225719:p.Thr413Pro		Somatic				CPD_ENST00000543464.2_Missense_Mutation_p.T166P	p.T413P	NM_001304.4	NP_001295.2	WXS	Illumina GAIIx	Phase_I	O75976	CBPD_HUMAN			4	1313	+			413			Carboxypeptidase-like 1.		B7Z7T9|B7ZAU4|F5GZH6|O15377|Q86SH9|Q86XE6	Missense_Mutation	SNP	ENST00000225719.4	37	c.1237A>C	CCDS11257.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205604	0.79127	.	.	ENSG00000108582	ENST00000225719;ENST00000543464	T;T	0.37584	1.19;1.19	6.07	6.07	0.98685	Peptidase M14, carboxypeptidase A (1);Carboxypeptidase-like, regulatory domain (1);Carboxypeptidase, regulatory domain (1);	0.248758	0.40908	D	0.000984	T	0.68751	0.3035	H	0.96489	3.83	0.52501	D	0.999955	D;D	0.64830	0.986;0.994	D;D	0.67231	0.914;0.95	T	0.77765	-0.2465	10	0.87932	D	0	.	10.0478	0.42197	0.9186:0.0:0.0814:0.0	.	166;413	F5GZH6;O75976	.;CBPD_HUMAN	P	413;166	ENSP00000225719:T413P;ENSP00000444443:T166P	ENSP00000225719:T413P	T	+	1	0	CPD	25772907	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.982000	0.76173	2.326000	0.78906	0.533000	0.62120	ACA		0.368	CPD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256214.3	NM_001304		41	63	41	63	---	---	---	---
MYO1D	4642	broad.mit.edu	37	17	31099824	31099824	+	Missense_Mutation	SNP	A	A	C			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr17:31099824A>C	ENST00000318217.5	-	5	905	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V|MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	201	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			AAAGAATGAAAGCTTCTTTCT	0.393																																						ENST00000318217.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(601-603)Ttt>Gtt		myosin ID							141.0	148.0	146.0					17																	31099824		2203	4300	6503	SO:0001583	missense	4642					myosin complex	actin binding|ATP binding|calmodulin binding	g.chr17:31099824A>C	AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.601T>G	17.37:g.31099824A>C	ENSP00000324527:p.Phe201Val		Somatic				MYO1D_ENST00000394649.4_Missense_Mutation_p.F113V|MYO1D_ENST00000579584.1_Missense_Mutation_p.F201V|MYO1D_ENST00000583621.1_Missense_Mutation_p.F201V	p.F201V	NM_015194.1	NP_056009.1	WXS	Illumina GAIIx	Phase_I	O94832	MYO1D_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0362)		5	905	-			201			Myosin head-like.		A6H8V3|Q8NHP9	Missense_Mutation	SNP	ENST00000318217.5	37	c.601T>G	CCDS32615.1	.	.	.	.	.	.	.	.	.	.	A	22.3	4.277857	0.80692	.	.	ENSG00000176658	ENST00000318217	T	0.79141	-1.24	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.40818	U	0.001012	D	0.88213	0.6376	H	0.97659	4.05	0.80722	D	1	P;P	0.44260	0.83;0.83	P;P	0.46940	0.532;0.532	D	0.91613	0.5304	10	0.87932	D	0	.	13.5371	0.61652	1.0:0.0:0.0:0.0	.	112;201	Q7Z3N6;O94832	.;MYO1D_HUMAN	V	201	ENSP00000324527:F201V	ENSP00000324527:F201V	F	-	1	0	MYO1D	28123937	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.461000	0.90372	2.070000	0.61991	0.528000	0.53228	TTT		0.393	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			5	207	5	207	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8793060	8793060	+	Missense_Mutation	SNP	T	T	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr18:8793060T>A	ENST00000359865.3	+	8	2094	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E	SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000518815.1_Intron|SOGA2_ENST00000400050.3_Intron	NM_015210.3	NP_056025.2																					GGTCAGCTCGTGCAGGCGGCC	0.498																																						ENST00000359865.3																			0											c.(1951-1953)gTg>gAg		SOGA family member 2							100.0	111.0	107.0					18																	8793060		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8793060T>A																												ENST00000359865.3:c.1952T>A	18.37:g.8793060T>A	ENSP00000352927:p.Val651Glu		Somatic				SOGA2_ENST00000517570.1_Intron|SOGA2_ENST00000306285.7_5'UTR|SOGA2_ENST00000306329.11_Intron|SOGA2_ENST00000400050.3_Intron|SOGA2_ENST00000518815.1_Intron	p.V651E	NM_015210.3	NP_056025.2	WXS	Illumina GAIIx	Phase_I	Q9Y4B5	CC165_HUMAN			8	2094	+			980						Missense_Mutation	SNP	ENST00000359865.3	37	c.1952T>A	CCDS11841.1	.	.	.	.	.	.	.	.	.	.	T	9.262	1.043461	0.19748	.	.	ENSG00000168502	ENST00000306329;ENST00000359865	T	0.36340	1.26	5.68	-3.26	0.05064	.	1.026340	0.07770	N	0.951654	T	0.11452	0.0279	N	0.03608	-0.345	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.32561	-0.9902	10	0.02654	T	1	.	5.4174	0.16382	0.3864:0.218:0.0:0.3956	.	651	Q9Y4B5-3	.	E	672;651	ENSP00000352927:V651E	ENSP00000305027:V672E	V	+	2	0	CCDC165	8783060	0.020000	0.18652	0.000000	0.03702	0.395000	0.30598	0.420000	0.21263	-0.437000	0.07243	-0.379000	0.06801	GTG		0.498	SOGA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254476.1			39	83	39	83	---	---	---	---
HDGFRP2	84717	broad.mit.edu	37	19	4491627	4491627	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:4491627C>T	ENST00000301284.4	+	5	618	c.554C>T	c.(553-555)tCc>tTc	p.S185F	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		185	Ser-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)										GTGTCCCCATCCGAAGAGGAG	0.617																																						ENST00000301284.4																			0											c.(553-555)tCc>tTc									54.0	62.0	59.0					19																	4491627		2013	4150	6163	SO:0001583	missense	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4491627C>T																												ENST00000301284.4:c.554C>T	19.37:g.4491627C>T	ENSP00000301284:p.Ser185Phe		Somatic				HDGFRP2_ENST00000586684.1_Missense_Mutation_p.S185F	p.S185F	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	WXS	Illumina GAIIx	Phase_I	Q7Z4V5	HDGR2_HUMAN			5	618	+			185			Ser-rich.		I3L080|K7EQZ6|Q96GI5|Q9BW08	Missense_Mutation	SNP	ENST00000301284.4	37	c.554C>T	CCDS42472.1	.	.	.	.	.	.	.	.	.	.	C	17.13	3.309869	0.60414	.	.	ENSG00000167674	ENST00000301284;ENST00000398364	T	0.52057	0.68	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.57592	0.2064	M	0.63843	1.955	0.20703	N	0.999861	D;D	0.61697	0.99;0.99	P;P	0.53313	0.723;0.723	T	0.56263	-0.8008	10	0.72032	D	0.01	.	14.6729	0.68958	0.0:1.0:0.0:0.0	.	185;185	C9JEE1;Q7Z4V5	.;HDGR2_HUMAN	F	185;171	ENSP00000301284:S185F	ENSP00000301284:S185F	S	+	2	0	AC011498.1	4442627	0.937000	0.31787	0.039000	0.18376	0.830000	0.47004	4.868000	0.63021	2.219000	0.72066	0.555000	0.69702	TCC		0.617	HDGFRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000458642.1			9	52	9	52	---	---	---	---
C3	718	broad.mit.edu	37	19	6707507	6707507	+	Missense_Mutation	SNP	C	C	T	rs534845907		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:6707507C>T	ENST00000245907.6	-	16	2109	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	673					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GTGAGCTGCACGGAACGGCGT	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		14416	0.0		0.0	False		,,,				2504	0.001					ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2017-2019)Gtg>Atg		complement component 3							48.0	58.0	55.0					19																	6707507		2203	4298	6501	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6707507C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2017G>A	19.37:g.6707507C>T	ENSP00000245907:p.Val673Met		Somatic					p.V673M	NM_000064.2	NP_000055.2	WXS	Illumina GAIIx	Phase_I	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	16	2109	-			673					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2017G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	12.93	2.085512	0.36758	.	.	ENSG00000125730	ENST00000245907	T	0.36157	1.27	4.98	3.94	0.45596	.	0.517766	0.20182	N	0.097483	T	0.50480	0.1618	M	0.86178	2.8	0.22975	N	0.998485	P	0.52463	0.953	P	0.50708	0.648	T	0.49031	-0.8981	10	0.54805	T	0.06	.	9.3579	0.38177	0.0:0.8997:0.0:0.1003	.	673	P01024	CO3_HUMAN	M	673	ENSP00000245907:V673M	ENSP00000245907:V673M	V	-	1	0	C3	6658507	0.082000	0.21442	0.758000	0.31321	0.033000	0.12548	0.597000	0.24059	1.099000	0.41499	-0.192000	0.12808	GTG		0.662	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		5	64	5	64	---	---	---	---
ADAMTS10	81794	broad.mit.edu	37	19	8654353	8654353	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:8654353C>T	ENST00000597188.1	-	17	2287	c.2017G>A	c.(2017-2019)Gtc>Atc	p.V673I	ADAMTS10_ENST00000270328.4_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	673	Cys-rich.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCGCCACTGACGCAAATGTCC	0.657																																						ENST00000270328.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2017-2019)Gtc>Atc		ADAM metallopeptidase with thrombospondin type 1 motif, 10							75.0	78.0	77.0					19																	8654353		2203	4300	6503	SO:0001583	missense	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8654353C>T	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2017G>A	19.37:g.8654353C>T	ENSP00000471851:p.Val673Ile		Somatic				ADAMTS10_ENST00000597188.1_Missense_Mutation_p.V673I|ADAMTS10_ENST00000595838.1_Missense_Mutation_p.V160I	p.V673I			WXS	Illumina GAIIx	Phase_I	Q9H324	ATS10_HUMAN			16	2283	-			673			Cys-rich.		M0QZE4	Missense_Mutation	SNP	ENST00000597188.1	37	c.2017G>A	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	C	9.129	1.010961	0.19277	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	T	0.61742	0.08	5.03	5.03	0.67393	.	0.000000	0.64402	U	0.000003	T	0.31263	0.0791	N	0.05050	-0.12	0.80722	D	1	B;B;P	0.35959	0.098;0.161;0.53	B;B;B	0.28553	0.014;0.028;0.091	T	0.36625	-0.9740	10	0.06494	T	0.89	.	17.3415	0.87297	0.0:1.0:0.0:0.0	.	427;673;160	Q59FE5;Q9H324;E9PCI6	.;ATS10_HUMAN;.	I	673;427	ENSP00000270328:V673I	ENSP00000270328:V673I	V	-	1	0	ADAMTS10	8560353	1.000000	0.71417	0.995000	0.50966	0.819000	0.46315	4.585000	0.60977	2.314000	0.78098	0.655000	0.94253	GTC		0.657	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		6	67	6	67	---	---	---	---
CD22	933	broad.mit.edu	37	19	35831815	35831815	+	Silent	SNP	A	A	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:35831815A>G	ENST00000085219.5	+	7	1347	c.1281A>G	c.(1279-1281)caA>caG	p.Q427Q	CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000341773.6_Silent_p.Q250Q|CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000270311.6_Silent_p.Q307Q	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	427	Ig-like C2-type 4.				cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGTGATTCAAAACCCCATGC	0.507																																					Ovarian(42;1009 1133 23674 26041)	ENST00000085219.5																			0				breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54						c.(1279-1281)caA>caG		CD22 molecule	OspA lipoprotein(DB00045)						128.0	114.0	119.0					19																	35831815		2203	4300	6503	SO:0001819	synonymous_variant	933				cell adhesion		protein binding|sugar binding	g.chr19:35831815A>G	X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.1281A>G	19.37:g.35831815A>G			Somatic				CD22_ENST00000544992.2_Silent_p.Q427Q|CD22_ENST00000270311.6_Silent_p.Q307Q|CD22_ENST00000594250.1_Silent_p.Q250Q|CD22_ENST00000536635.2_Silent_p.Q339Q|CD22_ENST00000419549.2_Silent_p.Q255Q|CD22_ENST00000341773.6_Silent_p.Q250Q	p.Q427Q	NM_001771.3	NP_001762.2	WXS	Illumina GAIIx	Phase_I	P20273	CD22_HUMAN	Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		7	1347	+	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		427			Ig-like C2-type 4.		F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Silent	SNP	ENST00000085219.5	37	c.1281A>G	CCDS12457.1																																																																																				0.507	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466099.1	NM_001771		3	83	3	83	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43430713	43430713	+	RNA	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:43430713G>A	ENST00000406070.2	-	0	961				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				TTTTCAATGCGTCGCTTTACC	0.493																																						ENST00000446844.3																			0													pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)							237.0	219.0	225.0					19																	43430713		2202	4284	6486			5676				female pregnancy	extracellular region		g.chr19:43430713G>A			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430713G>A			Somatic				PSG7_ENST00000406070.2_RNA				WXS	Illumina GAIIx	Phase_I	Q13046	PSG7_HUMAN			0	954	-		Prostate(69;0.00682)						Q15232	RNA	SNP	ENST00000406070.2	37																																																																																						0.493	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		109	226	109	226	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381839	45381839	+	Intron	SNP	G	G	A			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:45381839G>A	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_Missense_Mutation_p.D468N	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		GTCCCAGCTGGACGGCTCCCT	0.637																																						ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1402-1404)Gac>Aac		poliovirus receptor-related 2 (herpesvirus entry mediator B)							56.0	50.0	52.0					19																	45381839		2203	4300	6503	SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381839G>A	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3629G>A	19.37:g.45381839G>A			Somatic				PVRL2_ENST00000252483.5_Intron	p.D468N	NM_002856.2	NP_002847.1	WXS	Illumina GAIIx	Phase_I	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1753	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	527					A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.1402G>A	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797046	0.90453	.	.	ENSG00000130202	ENST00000252485	T	0.76968	-1.06	5.91	5.91	0.95273	.	.	.	.	.	D	0.86619	0.5976	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86962	0.2092	9	0.87932	D	0	.	17.7902	0.88550	0.0:0.0:1.0:0.0	.	468	Q92692-2	.	N	468	ENSP00000252485:D468N	ENSP00000252485:D468N	D	+	1	0	PVRL2	50073679	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	6.056000	0.71111	2.813000	0.96785	0.655000	0.94253	GAC		0.637	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		3	34	3	34	---	---	---	---
ZNF256	10172	broad.mit.edu	37	19	58453386	58453386	+	Missense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr19:58453386C>T	ENST00000282308.3	-	3	986	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	264					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		TAAGGCTTTTCTGAAGTGTGA	0.428																																					NSCLC(55;1313 1552 8040 11996)	ENST00000282308.3																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(790-792)Gaa>Aaa		zinc finger protein 256							144.0	137.0	139.0					19																	58453386		2203	4300	6503	SO:0001583	missense	10172				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58453386C>T	AF067165	CCDS12966.1	19q13	2013-01-08				ENSG00000152454		"""Zinc fingers, C2H2-type"", ""-"""	13049	protein-coding gene	gene with protein product		606956					Standard	NM_005773		Approved	BMZF-3	uc002qqu.3	Q9Y2P7		ENST00000282308.3:c.790G>A	19.37:g.58453386C>T	ENSP00000282308:p.Glu264Lys		Somatic				ZNF256_ENST00000598928.1_3'UTR	p.E264K	NM_005773.2	NP_005764.2	WXS	Illumina GAIIx	Phase_I	Q9Y2P7	ZN256_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)	3	986	-		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	264					B2RA92|Q53Y85|Q9BV71	Missense_Mutation	SNP	ENST00000282308.3	37	c.790G>A	CCDS12966.1	.	.	.	.	.	.	.	.	.	.	.	19.07	3.756646	0.69648	.	.	ENSG00000152454	ENST00000282308	T	0.24350	1.86	3.04	1.96	0.26148	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.30293	0.0760	M	0.73319	2.225	0.27882	N	0.939647	P	0.46395	0.877	B	0.42653	0.394	T	0.15009	-1.0452	9	0.51188	T	0.08	.	11.0305	0.47769	0.0:0.8084:0.1916:0.0	.	264	Q9Y2P7	ZN256_HUMAN	K	264	ENSP00000282308:E264K	ENSP00000282308:E264K	E	-	1	0	ZNF256	63145198	0.740000	0.28207	0.035000	0.18076	0.902000	0.53008	3.314000	0.51943	0.584000	0.29591	0.460000	0.39030	GAA		0.428	ZNF256-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466702.1			67	360	67	360	---	---	---	---
SOGA1	140710	broad.mit.edu	37	20	35425294	35425294	+	Missense_Mutation	SNP	C	C	G			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr20:35425294C>G	ENST00000357779.3	-	13	3085	c.2759G>C	c.(2758-2760)gGt>gCt	p.G920A	SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G920A|SOGA1_ENST00000237536.4_Missense_Mutation_p.G1158A			O94964	SOGA1_HUMAN	suppressor of glucose, autophagy associated 1	920					insulin receptor signaling pathway (GO:0008286)|negative regulation of gluconeogenesis (GO:0045721)|regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						CCTCTTTAAACCATTTCCTCC	0.582																																						ENST00000237536.4																			0				endometrium(5)|kidney(1)|lung(21)|urinary_tract(1)	28						c.(3472-3474)gGt>gCt		suppressor of glucose, autophagy associated 1							110.0	119.0	116.0					20																	35425294		2128	4233	6361	SO:0001583	missense	140710							g.chr20:35425294C>G	AK126630	CCDS46598.1, CCDS54459.1	20q11.23	2012-03-01	2012-02-27	2012-02-27	ENSG00000149639	ENSG00000149639			16111	protein-coding gene	gene with protein product	"""suppressor of glucose by autophagy"", ""suppressor of glucose from autophagy"""		"""chromosome 20 open reading frame 117"", ""KIAA0889"""	C20orf117, KIAA0889		20813965	Standard	NM_080627		Approved	dJ132F21.1, FLJ44670, SOGA	uc021wcx.1	O94964	OTTHUMG00000032395	ENST00000357779.3:c.2759G>C	20.37:g.35425294C>G	ENSP00000350424:p.Gly920Ala		Somatic				SOGA1_ENST00000357779.3_Missense_Mutation_p.G920A|SOGA1_ENST00000456801.2_Missense_Mutation_p.G761A|SOGA1_ENST00000279034.6_Missense_Mutation_p.G920A	p.G1158A	NM_080627.2	NP_542194.2	WXS	Illumina GAIIx	Phase_I	O94964	K0889_HUMAN			13	3814	-			920					A6NK10|Q14DB2|Q5JW51|Q6ZTG8	Missense_Mutation	SNP	ENST00000357779.3	37	c.3473G>C		.	.	.	.	.	.	.	.	.	.	C	3.560	-0.089841	0.07053	.	.	ENSG00000149639	ENST00000237536;ENST00000279034;ENST00000456801;ENST00000357779	T;T;T;T	0.39056	1.1;1.1;1.1;1.1	5.15	3.07	0.35406	.	0.919519	0.09398	N	0.807598	T	0.18964	0.0455	N	0.04880	-0.145	0.26506	N	0.974681	B	0.02656	0.0	B	0.06405	0.002	T	0.25187	-1.0139	10	0.16420	T	0.52	-16.3361	4.4448	0.11591	0.0:0.5947:0.2527:0.1526	.	920	O94964-4	.	A	1158;920;761;920	ENSP00000237536:G1158A;ENSP00000279034:G920A;ENSP00000413886:G761A;ENSP00000350424:G920A	ENSP00000237536:G1158A	G	-	2	0	KIAA0889	34858708	0.152000	0.22762	0.534000	0.28014	0.058000	0.15608	0.458000	0.21892	1.385000	0.46445	0.561000	0.74099	GGT		0.582	SOGA1-201	KNOWN	basic	protein_coding	protein_coding		NM_199181		11	43	11	43	---	---	---	---
RBM11	54033	broad.mit.edu	37	21	15592040	15592040	+	Nonsense_Mutation	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr21:15592040C>T	ENST00000400577.3	+	2	262	c.253C>T	c.(253-255)Cga>Tga	p.R85*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	85	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		CGTGCAGTATCGATTTGGTAG	0.373																																						ENST00000400577.3																			0				endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						c.(253-255)Cga>Tga		RNA binding motif protein 11							91.0	82.0	85.0					21																	15592040		1568	3582	5150	SO:0001587	stop_gained	54033						nucleotide binding|RNA binding	g.chr21:15592040C>T	AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.253C>T	21.37:g.15592040C>T	ENSP00000383421:p.Arg85*		Somatic				RBM11_ENST00000468643.1_3'UTR	p.R85*	NM_144770.3	NP_658983.3	WXS	Illumina GAIIx	Phase_I	P57052	RBM11_HUMAN		Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)	2	262	+			85			RRM.		Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	ENST00000400577.3	37	c.253C>T	CCDS46635.1	.	.	.	.	.	.	.	.	.	.	C	33	5.197580	0.94997	.	.	ENSG00000185272	ENST00000400577	.	.	.	5.29	4.36	0.52297	.	0.126326	0.35495	N	0.003163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-16.0949	15.5919	0.76537	0.1377:0.8623:0.0:0.0	.	.	.	.	X	85	.	ENSP00000383421:R85X	R	+	1	2	RBM11	14513911	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.592000	0.46171	2.661000	0.90470	0.655000	0.94253	CGA		0.373	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157818.1	NM_144770		3	13	3	13	---	---	---	---
IGLV3-25	28793	broad.mit.edu	37	22	23029467	23029467	+	RNA	SNP	G	G	A	rs546527918		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:23029467G>A	ENST00000390305.2	+	0	112									immunoglobulin lambda variable 3-25																		CCTATGAGCTGACACAGCCAC	0.572													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18425	0.0		0.0	False		,,,				2504	0.0					ENST00000390305.2																			0																				71.0	69.0	69.0					22																	23029467		1937	4142	6079			28793							g.chr22:23029467G>A	X97474		22q11.2	2012-02-08			ENSG00000211659	ENSG00000211659		"""Immunoglobulins / IGL locus"""	5908	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000151221		22.37:g.23029467G>A			Somatic								WXS	Illumina GAIIx	Phase_I					0	112	+									RNA	SNP	ENST00000390305.2	37																																																																																						0.572	IGLV3-25-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321825.1	NG_000002		7	74	7	74	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26707841	26707841	+	Missense_Mutation	SNP	G	G	T	rs375633558		TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr22:26707841G>T	ENST00000248933.6	+	8	1884	c.1789G>T	c.(1789-1791)Ggc>Tgc	p.G597C	SEZ6L_ENST00000529632.2_Missense_Mutation_p.G597C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	597	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CTGCGACCCCGGCCACTCCCT	0.567																																						ENST00000529632.2																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						c.(1789-1791)Ggc>Tgc		seizure related 6 homolog (mouse)-like							152.0	152.0	152.0					22																	26707841		2203	4300	6503	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26707841G>T	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.1789G>T	22.37:g.26707841G>T	ENSP00000248933:p.Gly597Cys		Somatic				SEZ6L_ENST00000360929.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000248933.6_Missense_Mutation_p.G597C|SEZ6L_ENST00000402979.1_Missense_Mutation_p.G370C|SEZ6L_ENST00000343706.4_Missense_Mutation_p.G597C|SEZ6L_ENST00000404234.3_Missense_Mutation_p.G597C|SEZ6L_ENST00000403121.1_Missense_Mutation_p.G370C	p.G597C	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	WXS	Illumina GAIIx	Phase_I	Q9BYH1	SE6L1_HUMAN			8	1985	+			597			Sushi 2.		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.1789G>T	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759687	0.89932	.	.	ENSG00000100095	ENST00000404234;ENST00000529632;ENST00000360929;ENST00000248933;ENST00000343706;ENST00000403121;ENST00000402979	T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.83	4.83	0.62350	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.56097	D	0.000021	D	0.91895	0.7434	H	0.96142	3.775	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.94391	0.7614	10	0.87932	D	0	.	17.0892	0.86618	0.0:0.0:1.0:0.0	.	597;597;370;597;597;597;597	B7ZLJ8;B7ZLJ6;B0QYH4;Q9BYH1-5;Q9BYH1-4;B0QYG3;Q9BYH1	.;.;.;.;.;.;SE6L1_HUMAN	C	597;597;597;597;597;370;370	ENSP00000384772:G597C;ENSP00000437037:G597C;ENSP00000354185:G597C;ENSP00000248933:G597C;ENSP00000342661:G597C;ENSP00000384838:G370C;ENSP00000384733:G370C	ENSP00000248933:G597C	G	+	1	0	SEZ6L	25037841	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.085000	0.94083	2.498000	0.84270	0.563000	0.77884	GGC		0.567	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			4	187	4	187	---	---	---	---
FAM47C	442444	broad.mit.edu	37	X	37028160	37028160	+	Silent	SNP	C	C	T			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chrX:37028160C>T	ENST00000358047.3	+	1	1729	c.1677C>T	c.(1675-1677)cgC>cgT	p.R559R		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	559										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCATCTCCGCCCAGAGCCTC	0.612																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1675-1677)cgC>cgT		family with sequence similarity 47, member C							49.0	55.0	53.0					X																	37028160		2181	4283	6464	SO:0001819	synonymous_variant	442444							g.chrX:37028160C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1677C>T	X.37:g.37028160C>T			Somatic					p.R559R	NM_001013736.2	NP_001013758.1	WXS	Illumina GAIIx	Phase_I	Q5HY64	FA47C_HUMAN			1	1729	+			559					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1677C>T	CCDS35227.1																																																																																				0.612	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		36	12	36	12	---	---	---	---
SENP7	57337	broad.mit.edu	37	3	101086791	101086800	+	Frame_Shift_Del	DEL	TTTAACATCC	TTTAACATCC	-			TCGA-VP-A87D-01A-11D-A34U-08	TCGA-VP-A87D-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a582e00-aad2-4360-868a-9ab8fa301eaa	4ca66d58-c6b9-4c71-b209-aa0a52690c09	g.chr3:101086791_101086800delTTTAACATCC	ENST00000394095.2	-	8	905_914	c.852_861delGGATGTTAAA	c.(850-861)aaggatgttaaafs	p.KDVK284fs	SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	284						intracellular (GO:0005622)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AATCAGAATATTTAACATCCTTGTTTCTGC	0.333																																						ENST00000394095.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(850-861)aaggatgttaaafs		SUMO1/sentrin specific peptidase 7																																				SO:0001589	frameshift_variant	57337				proteolysis	nucleus	cysteine-type peptidase activity	g.chr3:101086791_101086800delTTTAACATCC		CCDS2941.2, CCDS43121.1, CCDS63704.1, CCDS63705.1, CCDS63706.1	3q12	2008-02-05	2005-08-17		ENSG00000138468	ENSG00000138468			30402	protein-coding gene	gene with protein product		612846	"""SUMO1/sentrin specific protease 7"""			11214970, 11230166	Standard	NM_001282802		Approved		uc003dut.3	Q9BQF6	OTTHUMG00000149927	ENST00000394095.2:c.852_861delGGATGTTAAA	3.37:g.101086791_101086800delTTTAACATCC	ENSP00000377655:p.Lys284fs		Somatic				SENP7_ENST00000314261.7_Frame_Shift_Del_p.KDVK218fs|SENP7_ENST00000394091.1_Frame_Shift_Del_p.KDVK120fs|SENP7_ENST00000394094.2_Frame_Shift_Del_p.KDVK219fs|SENP7_ENST00000348610.3_Frame_Shift_Del_p.KDVK251fs|SENP7_ENST00000358203.3_Frame_Shift_Del_p.KDVK120fs	p.KDVK284fs	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	WXS	Illumina GAIIx	Phase_I	Q9BQF6	SENP7_HUMAN			8	905_914	-			284					A1L3A5|A8MW39|B7WNW8|Q7Z3F4|Q96PS5|Q9C0F6|Q9HBT5	Frame_Shift_Del	DEL	ENST00000394095.2	37	c.852_861delGGATGTTAAA	CCDS2941.2																																																																																				0.333	SENP7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000313957.2	NM_020654		10	100	10	100	---	---	---	---
